UniProtKB - O00255 (MEN1_HUMAN)
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- BLAST
>sp|O00255|MEN1_HUMAN Menin OS=Homo sapiens OX=9606 GN=MEN1 PE=1 SV=4 MGLKAAQKTLFPLRSIDDVVRLFAAELGREEPDLVLLSLVLGFVEHFLAVNRVIPTNVPE LTFQPSPAPDPPGGLTYFPVADLSIIAALYARFTAQIRGAVDLSLYPREGGVSSRELVKK VSDVIWNSLSRSYFKDRAHIQSLFSFITGWSPVGTKLDSSGVAFAVVGACQALGLRDVHL ALSEDHAWVVFGPNGEQTAEVTWHGKGNEDRRGQTVNAGVAERSWLYLKGSYMRCDRKME VAFMVCAINPSIDLHTDSLELLQLQQKLLWLLYDLGHLERYPMALGNLADLEELEPTPGR PDPLTLYHKGIASAKTYYRDEHIYPYMYLAGYHCRNRNVREALQAWADTATVIQDYNYCR EDEEIYKEFFEVANDVIPNLLKEAASLLEAGEERPGEQSQGTQSQGSALQDPECFAHLLR FYDGICKWEEGSPTPVLHVGWATFLVQSLGRFEGQVRQKVRIVSREAEAAEAEEPWGEEA REGRRRGPRRESKPEEPPPPKKPALDKGLGTGQGAVSGPPRKPPGTVAGTARGPEGGSTA QVPAPTASPPPEGPVLTFQSEKMKGMKELLVATKINSSAIKLQLTAQSQVQMKKQKVSTP SDYTLSFLKRQRKGL
- Align
Protein
Menin
Gene
MEN1
Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:
Annotation score:5 out of 5
<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>Select a section on the left to see content.
<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni
Essential component of a MLL/SET1 histone methyltransferase (HMT) complex, a complex that specifically methylates 'Lys-4' of histone H3 (H3K4). Functions as a transcriptional regulator. Binds to the TERT promoter and represses telomerase expression. Plays a role in TGFB1-mediated inhibition of cell-proliferation, possibly regulating SMAD3 transcriptional activity. Represses JUND-mediated transcriptional activation on AP1 sites, as well as that mediated by NFKB subunit RELA. Positively regulates HOXC8 and HOXC6 gene expression. May be involved in normal hematopoiesis through the activation of HOXA9 expression (By similarity). May be involved in DNA repair.By similarity5 Publications
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.6"The tumor suppressor protein menin interacts with NF-kappaB proteins and inhibits NF-kappaB-mediated transactivation."
Heppner C., Bilimoria K.Y., Agarwal S.K., Kester M., Whitty L.J., Guru S.C., Chandrasekharappa S.C., Collins F.S., Spiegel A.M., Marx S.J., Burns A.L.
Oncogene 20:4917-4925(2001) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, INTERACTION WITH NFKB1; NFKB2 AND RELA. - Ref.7"Inactivation of menin, a Smad3-interacting protein, blocks transforming growth factor type beta signaling."
Kaji H., Canaff L., Lebrun J.J., Goltzman D., Hendy G.N.
Proc. Natl. Acad. Sci. U.S.A. 98:3837-3842(2001) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, INTERACTION WITH SMAD3. - Ref.8"Menin associates with FANCD2, a protein involved in repair of DNA damage."
Jin S., Mao H., Schnepp R.W., Sykes S.M., Silva A.C., D'Andrea A.D., Hua X.
Cancer Res. 63:4204-4210(2003) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH FANCD2. - Ref.9"Multiple tumor suppressor pathways negatively regulate telomerase."
Lin S.Y., Elledge S.J.
Cell 113:881-889(2003) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION IN TERT REPRESSION. - Ref.11"Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus."
Hughes C.M., Rozenblatt-Rosen O., Milne T.A., Copeland T.D., Levine S.S., Lee J.C., Hayes D.N., Shanmugam K.S., Bhattacharjee A., Biondi C.A., Kay G.F., Hayward N.K., Hess J.L., Meyerson M.
Mol. Cell 13:587-597(2004) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION IN H3K4 METHYLATION, IDENTIFICATION IN THE MEN1-ASSOCIATED HISTONE METHYLTRANSFERASE COMPLEX, INTERACTION WITH POLR2A AND POLR2B, VARIANTS MEN1 LEU-12; ARG-22; ASP-139; VAL-247; PRO-314; ARG-349 AND ARG-441.
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni
- chromatin binding Source: GO_Central <p>Inferred from Biological aspect of Ancestor</p> <p>A type of phylogenetic evidence whereby an aspect of a descendent is inferred through the characterization of an aspect of a ancestral gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#iba">GO evidence code guide</a></p> Inferred from biological aspect of ancestori
- double-stranded DNA binding Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- four-way junction DNA binding Source: UniProtKBInferred from direct assayi
- protein binding, bridging Source: UniProtKBInferred from direct assayi
- protein N-terminus binding Source: UniProtKB <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactioni
- R-SMAD binding Source: BHF-UCLInferred from physical interactioni
- transcription regulatory region DNA binding Source: UniProtKBInferred from direct assayi
- Y-form DNA binding Source: UniProtKBInferred from direct assayi
GO - Biological processi
- beta-catenin-TCF complex assembly Source: Reactome
- brain development Source: Ensembl
- cellular protein metabolic process Source: Reactome
- cellular response to DNA damage stimulus Source: UniProtKBInferred from direct assayi
- cellular response to glucose stimulus Source: Ensembl
- cellular response to peptide hormone stimulus Source: Ensembl
- decidualization Source: Ensembl
- DNA repair Source: UniProtKB <p>Non-traceable Author Statement</p> <p>Used for statements in the abstract, introduction or discussion of a paper that cannot be traced back to another publication.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#nas">GO evidence code guide</a></p> Non-traceable author statementi
- histone lysine methylation Source: GOC
- MAPK cascade Source: UniProtKBInferred from direct assayi
- mitotic cell cycle Source: Ensembl
- negative regulation of cell cycle Source: UniProtKBInferred from direct assayi
- negative regulation of cell cycle G1/S phase transition Source: Ensembl
- negative regulation of cell proliferation Source: UniProtKBInferred from direct assayi
- negative regulation of cell-substrate adhesion Source: Ensembl
- negative regulation of cyclin-dependent protein serine/threonine kinase activity Source: UniProtKB <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- negative regulation of DNA-binding transcription factor activity Source: UniProtKBInferred from direct assayi
- negative regulation of epithelial cell proliferation Source: Ensembl
- negative regulation of JNK cascade Source: UniProtKBInferred from direct assayi
- negative regulation of osteoblast differentiation Source: MGI <p>Inferred from Genetic Interaction</p> <p>Used to describe “traditional” genetic interactions such as suppressors and synthetic lethals as well as other techniques such as functional complementation, rescue experiments, or inferences about a gene drawn from the phenotype of a mutation in a different gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#igi">GO evidence code guide</a></p> Inferred from genetic interactioni
- negative regulation of protein phosphorylation Source: UniProtKBInferred from direct assayi
- negative regulation of telomerase activity Source: UniProtKBInferred from mutant phenotypei
- negative regulation of transcription, DNA-templated Source: UniProtKBInferred from direct assayi
- negative regulation of transcription by RNA polymerase II Source: UniProtKBInferred from direct assayi
- osteoblast development Source: MGIInferred from genetic interactioni
- positive regulation of protein binding Source: UniProtKBInferred from direct assayi
- positive regulation of transcription by RNA polymerase II Source: Reactome
- positive regulation of transforming growth factor beta receptor signaling pathway Source: UniProtKBInferred from mutant phenotypei
- post-translational protein modification Source: Reactome
- regulation of activin receptor signaling pathway Source: Ensembl
- regulation of type B pancreatic cell proliferation Source: Ensembl
- response to gamma radiation Source: UniProtKBInferred from direct assayi
- response to transforming growth factor beta Source: Ensembl
- response to UV Source: UniProtKBInferred from direct assayi
- type B pancreatic cell differentiation Source: Ensembl
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi
| Molecular function | Chromatin regulator, DNA-binding, Repressor |
| Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
Reactome - a knowledgebase of biological pathways and processes More...Reactomei | R-HSA-201722 Formation of the beta-catenin:TCF transactivating complex R-HSA-2173796 SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription R-HSA-3769402 Deactivation of the beta-catenin transactivating complex R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) R-HSA-5626467 RHO GTPases activate IQGAPs R-HSA-8957275 Post-translational protein phosphorylation |
SIGNOR Signaling Network Open Resource More...SIGNORi | O00255 |
<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi | Recommended name: Menin |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi | Name:MEN1 Synonyms:SCG2 |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>Organismi | Homo sapiens (Human) |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri | 9606 [NCBI] |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineagei | cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi |
|
Organism-specific databases
Eukaryotic Pathogen Database Resources More...EuPathDBi | HostDB:ENSG00000133895.14 |
Human Gene Nomenclature Database More...HGNCi | HGNC:7010 MEN1 |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 613733 gene |
neXtProt; the human protein knowledge platform More...neXtProti | NX_O00255 |
<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi
Nucleus
- Nucleus 1 Publication
Manual assertion based on experiment ini
- Ref.8"Menin associates with FANCD2, a protein involved in repair of DNA damage."
Jin S., Mao H., Schnepp R.W., Sykes S.M., Silva A.C., D'Andrea A.D., Hua X.
Cancer Res. 63:4204-4210(2003) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH FANCD2.
Note: Concentrated in nuclear body-like structures. Relocates to the nuclear matrix upon gamma irradiation.- Nucleus 1 Publication
Cytosol
Endoplasmic reticulum
- endoplasmic reticulum lumen Source: Reactome
Nucleus
- histone methyltransferase complex Source: MGIInferred from direct assayi
- nuclear chromatin Source: BHF-UCLInferred from direct assayi
- nuclear chromosome, telomeric region Source: BHF-UCL
- nuclear matrix Source: UniProtKBInferred from direct assayi
- nucleoplasm Source: HPA
- nucleus Source: UniProtKBInferred from direct assayi
Plasma Membrane
- cleavage furrow Source: UniProtKBInferred from direct assayi
Other locations
Keywords - Cellular componenti
Nucleus<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi
<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei
Familial multiple endocrine neoplasia type I (MEN1)40 PublicationsManual assertion based on experiment ini
- Ref.1"Positional cloning of the gene for multiple endocrine neoplasia-type 1."
Chandrasekharappa S.C., Guru S.C., Manickam P., Olufemi S.-E., Collins F.S., Emmert-Buck M.R., Debelenko L.V., Zhuang Z., Lubensky I.A., Liotta L.A., Crabtree J.S., Wang Y., Roe B.A., Weisemann J., Boguski M.S., Agarwal S.K., Kester M.B., Kim Y.S. , Heppner C., Dong Q., Spiegel A.M., Burns A.L., Marx S.J.
Science 276:404-407(1997) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2), VARIANTS MEN1 ARG-22; LYS-119 DEL; GLU-368 DEL AND ARG-441, VARIANTS GLN-176 AND ALA-546. - Ref.3"Novel MEN1 germline mutations in Brazilian families with multiple endocrine neoplasia type 1."
Toledo R.A., Lourenco D.M., Coutinho F.L., Quedas E., Mackowiack I., Machado M.C., Montenegro F., Cunha-Neto M.B., Liberman B., Pereira M.A., Correa P.H., Toledo S.P.
Clin. Endocrinol. (Oxf.) 67:377-384(2007) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 2), VARIANTS MEN1 89-LEU--ALA-95 DEL; PHE-147; ARG-418; PRO-419 AND CYS-476, VARIANT ALA-546. - Ref.5"Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription."
Agarwal S.K., Guru S.C., Heppner C., Erdos M.R., Collins R.M., Park S.Y., Saggar S., Chandrasekharappa S.C., Collins F.S., Spiegel A.M., Marx S.J., Burns A.L.
Cell 96:143-152(1999) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH JUND, VARIANTS MEN1 LEU-12; ARG-22; ASP-139; TYR-139; PRO-165; PRO-181; VAL-247; PRO-291; PRO-314; ARG-349 AND ARG-441. - Ref.11"Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus."
Hughes C.M., Rozenblatt-Rosen O., Milne T.A., Copeland T.D., Levine S.S., Lee J.C., Hayes D.N., Shanmugam K.S., Bhattacharjee A., Biondi C.A., Kay G.F., Hayward N.K., Hess J.L., Meyerson M.
Mol. Cell 13:587-597(2004) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION IN H3K4 METHYLATION, IDENTIFICATION IN THE MEN1-ASSOCIATED HISTONE METHYLTRANSFERASE COMPLEX, INTERACTION WITH POLR2A AND POLR2B, VARIANTS MEN1 LEU-12; ARG-22; ASP-139; VAL-247; PRO-314; ARG-349 AND ARG-441. - Ref.19"Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states."
Agarwal S.K., Kester M.B., Debelenko L.V., Heppner C., Emmert-Buck M.R., Skarulis M.C., Doppman J.L., Kim Y.S., Lubensky I.A., Zhuang Z., Green J.S., Guru S.C., Manickam P., Olufemi S.E., Liotta L.A., Chandrasekharappa S.C., Collins F.S., Spiegel A.M., Burns A.L., Marx S.J.
Hum. Mol. Genet. 6:1169-1175(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS MEN1. - Ref.20"Identification of the multiple endocrine neoplasia type 1 (MEN1) gene."
The European consortium on MEN1
Lemmens I., Van de Ven W.J.M., Kas K., Zhang C.X., Giraud S., Wautot V., Buisson N., De Witte K., Salandre J., Lenoir G., Pugeat M., Calender A., Parente F., Quincey D., Gaudray P., De Wit M.J., Lips C.J.M., Hoeppener J.W.M. , Khodaei S., Grant A.L., Weber G., Kytoelae S., Teh B.T., Farnebo F., Phelan C., Hayward N., Larsson C., Pannett A.A.J., Forbes S.A., Basset J.H.D., Thakker R.V.
Hum. Mol. Genet. 6:1177-1183(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT MEN1 SER-188, VARIANT GLN-176. - Ref.22"Characterization of mutations in patients with multiple endocrine neoplasia type 1."
Bassett J.H.D., Forbes S.A., Pannett A.A.J., Lloyd S.E., Christie P.T., Wooding C., Harding B., Besser G.M., Edwards C.R., Monson J.P., Sampson J., Wass J.A.H., Wheeler M.H., Thakker R.V.
Am. J. Hum. Genet. 62:232-244(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS MEN1 ASP-42; PRO-165; ASP-169; SER-188 AND GLU-289. - Ref.23"Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders."
Giraud S., Zhang C.X., Serova-Sinilnikova O., Wautot V., Salandre J., Buisson N., Waterlot C., Bauters C., Porchet N., Aubert J.-P., Emy P., Cadiot G., Delemer B., Chabre O., Niccoli P., Leprat F., Duron F., Emperauger B. , Cougard P., Goudet P., Sarfati E., Riou J.-P., Guichard S., Rodier M., Meyrier A., Caron P., Vantyghem M.-C., Assayag M., Peix J.-L., Pugeat M., Rohmer V., Vallotton M., Lenoir G., Gaudray P., Proye C., Conte-Devolx B., Chanson P., Shugart Y.Y., Goldgar D., Murat A., Calender A.
Am. J. Hum. Genet. 63:455-467(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS MEN1. - Ref.26"MEN1 gene mutations in 12 MEN1 families and their associated tumors."
Bartsch D., Kopp I., Bergenfelz A., Rieder H., Muench K., Jaeger K., Deiss Y., Schudy A., Barth P., Arnold R., Rothmund M., Simon B.
Eur. J. Endocrinol. 139:416-420(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS MEN1 LYS-26 AND PRO-173. - Ref.27"Analysis of recurrent germline mutations in the MEN1 gene encountered in apparently unrelated families."
Agarwal S.K., Debelenko L.V., Kester M.B., Guru S.C., Manickam P., Olufemi S.-E., Skarulis M.C., Heppner C., Crabtree J.S., Lubensky I.A., Zhuang Z., Kim Y.S., Chandrasekharappa S.C., Collins F.S., Liotta L.A., Spiegel A.M., Burns A.L., Emmert-Buck M.R., Marx S.J.
Hum. Mutat. 12:75-82(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS MEN1. - Ref.28"Five novel mutations in the familial multiple endocrine neoplasia type 1 (MEN1) gene."
Cote G.J., Lee J.E., Evans D.B., Huang E., Schultz P.N., Dang G.T., Qiu H., Shetelbine S., Sellin R.V., Gagel R.F.
Hum. Mutat. 12:219-219(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT MEN1 ARG-432. - Ref.29"Absence of germ-line mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in familial pituitary adenoma in contrast to MEN1 in Japanese."
Tanaka C., Yoshimoto K., Yamada S., Nishioka H., Ii S., Moritani M., Yamaoka T., Itakura M.
J. Clin. Endocrinol. Metab. 83:960-965(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT MEN1 LEU-325, VARIANT ALA-546. - Ref.30"Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism."
Teh B.T., Kytoelae S., Farnebo F., Bergman L., Wong F.K., Weber G., Hayward N., Larsson C., Skogseid B., Beckers A., Phelan C., Edwards M., Epstein M., Alford F., Hurley D., Grimmond S., Silins G., Walters M. , Stewart C., Cardinal J., Khodaei S., Parente F., Tranebjaerg L., Jorde R., Menon J., Khir A., Tan T.T., Chan S.P., Zaini A., Khalid B.A.K., Sandelin K., Thompson N., Brandi M.-L., Warth M., Stock J., Leisti J., Cameron D., Shepherd J.J., Oeberg K., Nordenskjoeld M., Salmela P.
J. Clin. Endocrinol. Metab. 83:2621-2626(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT MEN1 ASN-423, VARIANTS GLN-176 AND ALA-546. - Ref.31"Parathyroid MEN1 gene mutations in relation to clinical characteristics of nonfamilial primary hyperparathyroidism."
Carling T., Correa P., Hessman O., Hedberg J., Skogseid B., Lindberg D., Rastad J., Westin G., Akerstrom G.
J. Clin. Endocrinol. Metab. 83:2960-2963(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT MEN1 ASP-139, VARIANT TRP-157. - Ref.32"Menin mutations in MEN1 patients."
Mayr B., Brabant G., von zur Muehlen A.
J. Clin. Endocrinol. Metab. 83:3004-3005(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT MEN1 SER-428. - Ref.33"Somatic mutations of the MEN1 tumor suppressor gene detected in sporadic angiofibromas."
Boeni R., Vortmeyer A.O., Pack S., Park W.-S., Burg G., Hofbauer G., Darling T., Liotta L., Zhuang Z.
J. Invest. Dermatol. 111:539-540(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS MEN1 ILE-135 AND LYS-364. - Ref.34"Novel MEN1 gene mutations in familial multiple endocrine neoplasia type 1."
Sakurai A., Shirahama S., Fujimori M., Katai M., Itakura Y., Kobayashi S., Amano J., Fukushima Y., Hashizume K.
J. Hum. Genet. 43:199-201(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS MEN1 LYS-119 DEL AND 171-GLN--LEU-173 DEL. - Ref.35"Identification of five novel germline mutations of the MEN1 gene in Japanese multiple endocrine neoplasia type 1 (MEN1) families."
Sato M., Matsubara S., Miyauchi A., Ohye H., Imachi H., Murao K., Takahara J.
J. Med. Genet. 35:915-919(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT MEN1 GLY-45. - Ref.36"Molecular pathology of multiple endocrine neoplasia type I: two novel germline mutations and updated classification of mutations affecting MEN1 gene."
Martin-Campos J.M., Catasus L., Chico A., Mayoral C., Lagarda E., Gallart L., Mato E., Rodriguez-Espinosa J., Matias-Guiu X., De Leiva A., Blanco-Vaca F.
Diagn. Mol. Pathol. 8:195-204(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT MEN1 ARG-139. - Ref.37"A new mutation of the MEN1 gene in an Italian kindred with multiple endocrine neoplasia type 1."
Cetani F., Pardi E., Cianferotti L., Vignali E., Picone A., Miccoli P., Pinchera A., Marcocci C.
Eur. J. Endocrinol. 140:429-433(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT MEN1 PRO-449. - Ref.38"Germline MEN1 mutations in sixteen Japanese families with multiple endocrine neoplasia type 1 (MEN1)."
Hai N., Aoki N., Matsuda A., Mori T., Kosugi S.
Eur. J. Endocrinol. 141:475-480(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS MEN1 ARG-188; ARG-230; TYR-246 AND PRO-258, VARIANT ALA-546. - Ref.40"Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases."
Poncin J., Abs R., Velkeniers B., Bonduelle M., Abramowicz M., Legros J.-J., Verloes A., Meurisse M., van Gaal L., Verellen C., Koulischer L., Beckers A.
Hum. Mutat. 13:54-60(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS MEN1 TRP-39; TYR-177; ASP-184 AND PRO-269, VARIANTS GLN-176; PRO-272 AND ALA-546, INVOLVEMENT IN ISOLATED HYPERPARATHYROIDISM. - Ref.41"Germline mutations in the multiple endocrine neoplasia type 1 gene: evidence for frequent splicing defects."
Mutch M.G., Dilley W.G., Sanjurjo F., Debenedetti M.K., Doherty G.M., Wells S.A. Jr., Goodfellow P.J., Lairmore T.C.
Hum. Mutat. 13:175-185(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS MEN1 ASP-161 AND ARG-246. - Ref.42"Germline mutations in the MEN1 gene: creation of a new splice acceptor site and insertion of 7 intron nucleotides into the mRNA."
Engelbach M., Forst T., Hankeln T., Tratzky M., Heerdt S., Pfuetzner A., Kann P., Kunt T., Schneider S., Schmidt E.R., Beyer J.
Int. J. Mol. Med. 4:483-485(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT MEN1 PHE-160. - Ref.43"Identification of MEN1 gene mutations in families with MEN 1 and related disorders."
Bergman L., Teh B.T., Cardinal J., Palmer J., Walters M., Shepherd J., Cameron D., Hayward N.
Br. J. Cancer 83:1009-1014(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS MEN1 LEU-234; ASP-358; SER-378 AND PRO-420. - Ref.45"Criteria for mutation analysis in MEN 1-suspected patients: MEN 1 case-finding."
Roijers J.F.M., de Wit M.J., van der Luijt R.B., Ploos van Amstel H.K., Hoeppener J.W.M., Lips C.J.M.
Eur. J. Clin. Invest. 30:487-492(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS MEN1 TRP-39; LYS-119 DEL; GLN-184; PRO-228; ARG-322; PRO-342; ASN-353; VAL-390 AND SER-549. - Ref.46"MEN1 gene mutation analysis in Italian patients with multiple endocrine neoplasia type 1."
Morelli A., Falchetti A., Martineti V., Becherini L., Mark M., Friedman E., Brandi M.L.
Eur. J. Endocrinol. 142:131-137(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS MEN1 LYS-45; MET-220 AND ARG-349. - Ref.48"A novel mutation E179K of the MEN1 gene predisposes for multiple endocrine neoplasia-type 1 (MEN1)."
Weinhaeusel A., Vierhapper H., Schlegl R., Wagner T., Muhr D., Scheuba C., Niederle B., Haas O.A.
Hum. Mutat. 16:533-533(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT MEN1 LYS-184. - Ref.50"Pituitary macroadenoma in a 5-year-old: an early expression of multiple endocrine neoplasia type 1."
Stratakis C.A., Schussheim D.H., Freedman S.M., Keil M.F., Pack S.D., Agarwal S.K., Skarulis M.C., Weil R.J., Lubensky I.A., Zhuang Z., Oldfield E.H., Marx S.J.
J. Clin. Endocrinol. Metab. 85:4776-4780(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT MEN1 ASP-139. - Ref.51"Identification of three novel menin mutations (c.741delGTCA, c.1348T>C, c.1785delA) in unrelated Italian families affected with multiple endocrine neoplasia type 1: additional information for mutational screening."
Asteria C., Faglia G., Roncoroni R., Borretta G., Ribotto P., Beck-Peccoz P.
Hum. Mutat. 17:237-237(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT MEN1 PRO-419. - Ref.52"Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein."
Wautot V., Vercherat C., Lespinasse J., Chambe B., Lenoir G.M., Zhang C.X., Porchet N., Cordier M., Beroud C., Calender A.
Hum. Mutat. 20:35-47(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS MEN1 TRP-39; ASP-42; LEU-98; PRO-165; THR-165; PHE-167; ASP-169; ARG-170; TYR-177; PRO-228; PHE-245; ARG-286; PRO-316; PRO-319; TYR-322; ARG-322; ASP-342; ARG-346; HIS-362; ASP-373; MET-377; ASN-423; CYS-532; ASN-560 AND ARG-560. - Ref.53"A novel six-nucleotide insertion in exon 4 of the MEN1 gene, 878insCTGCAG, in three patients with familial insulinoma and primary hyperparathyroidism."
Okamoto H., Tamada A., Hai N., Doi M., Uchimura I., Hirata Y., Kosugi S.
Jpn. J. Clin. Oncol. 32:368-370(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT MEN1 LEU-GLN-266 INS. - Ref.54"Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1."
Turner J.J.O., Leotlela P.D., Pannett A.A.J., Forbes S.A., Bassett J.H.D., Harding B., Christie P.T., Bowen-Jones D., Ellard S., Hattersley A., Jackson C.E., Pope R., Quarrell O.W., Trembath R., Thakker R.V.
J. Clin. Endocrinol. Metab. 87:2688-2693(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS MEN1 LYS-119 DEL; ILE-159; GLU-368 DEL AND ASN-423. - Ref.56"Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism."
Pannett A.A.J., Kennedy A.M., Turner J.J.O., Forbes S.A., Cavaco B.M., Bassett J.H.D., Cianferotti L., Harding B., Shine B., Flinter F., Maidment C.G.H., Trembath R., Thakker R.V.
Clin. Endocrinol. (Oxf.) 58:639-646(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS MEN1 VAL-158 AND PRO-416, INVOLVEMENT IN ISOLATED HYPERPARATHYROIDISM. - Ref.57"Germline mutations of the MEN1 gene in Korean families with multiple endocrine neoplasia type 1 (MEN1) or MEN1-related disorders."
Park J.-H., Kim I.-J., Kang H.C., Lee S.-H., Shin Y., Kim K.-H., Lim S.-B., Kang S.-B., Lee K.U., Kim S.Y., Lee M.-S., Lee M.-K., Park J.-H., Moon S.-D., Park J.-G.
Clin. Genet. 64:48-53(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT MEN1 PRO-330. - Ref.58"Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA) and heteroduplex analysis."
Groupe d'etude des neoplasies endocriniennes multiples
Crepin M., Escande F., Pigny P., Buisine M.-P., Calender A., Porchet N., Odou M.-F.
Electrophoresis 24:26-33(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS MEN1 ARG-170; PRO-228; PHE-246; ARG-286; PRO-316; TYR-322; ASN-423 AND SER-545. - Ref.59"A novel missense mutation of the MEN1 gene in a multiple endocrine neoplasia type 1 patient associated with carcinoid syndrome."
Ukita C., Yamaguchi M., Tanaka T., Shigeta H., Nishikawa M.
Intern. Med. 42:1112-1116(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT MEN1 PRO-347. - Ref.60"Mutational and gross deletion study of the MEN1 gene and correlation with clinical features in Spanish patients."
Cebrian A., Ruiz-Llorente S., Cascon A., Pollan M., Diez J.J., Pico A., Telleria D., Benitez J., Robledo M.
J. Med. Genet. 40:E72-E72(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS MEN1 LYS-45 AND PRO-139, VARIANTS GLN-176 AND ALA-546. - Ref.62"Novel mutations in the MEN1 gene in subjects with multiple endocrine neoplasia-1."
Jap T.-S., Chiu C.-Y., Won J.G.-S., Wu Y.-C., Chen H.-S.
Clin. Endocrinol. (Oxf.) 62:336-342(2005) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS MEN1 GLU-110 AND HIS-423. - Ref.63"Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory."
Klein R.D., Salih S., Bessoni J., Bale A.E.
Genet. Med. 7:131-138(2005) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS MEN1 VAL-144; ASP-161; ASP-184; LYS-184; ARG-186; MET-220; ARG-264; ARG-325; TRP-360; TYR-426; CYS-441 AND ARG-441.
Ref.1
"Positional cloning of the gene for multiple endocrine neoplasia-type 1."
Chandrasekharappa S.C., Guru S.C., Manickam P., Olufemi S.-E., Collins F.S., Emmert-Buck M.R., Debelenko L.V., Zhuang Z., Lubensky I.A., Liotta L.A., Crabtree J.S., Wang Y., Roe B.A., Weisemann J., Boguski M.S., Agarwal S.K., Kester M.B., Kim Y.S. , Heppner C., Dong Q., Spiegel A.M., Burns A.L., Marx S.J.
Science 276:404-407(1997) [PubMed] [Europe PMC] [Abstract]
Chandrasekharappa S.C., Guru S.C., Manickam P., Olufemi S.-E., Collins F.S., Emmert-Buck M.R., Debelenko L.V., Zhuang Z., Lubensky I.A., Liotta L.A., Crabtree J.S., Wang Y., Roe B.A., Weisemann J., Boguski M.S., Agarwal S.K., Kester M.B., Kim Y.S. , Heppner C., Dong Q., Spiegel A.M., Burns A.L., Marx S.J.
Science 276:404-407(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2), VARIANTS MEN1 ARG-22; LYS-119 DEL; GLU-368 DEL AND ARG-441, VARIANTS GLN-176 AND ALA-546.
Ref.3
"Novel MEN1 germline mutations in Brazilian families with multiple endocrine neoplasia type 1."
Toledo R.A., Lourenco D.M., Coutinho F.L., Quedas E., Mackowiack I., Machado M.C., Montenegro F., Cunha-Neto M.B., Liberman B., Pereira M.A., Correa P.H., Toledo S.P.
Clin. Endocrinol. (Oxf.) 67:377-384(2007) [PubMed] [Europe PMC] [Abstract]
Toledo R.A., Lourenco D.M., Coutinho F.L., Quedas E., Mackowiack I., Machado M.C., Montenegro F., Cunha-Neto M.B., Liberman B., Pereira M.A., Correa P.H., Toledo S.P.
Clin. Endocrinol. (Oxf.) 67:377-384(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 2), VARIANTS MEN1 89-LEU--ALA-95 DEL; PHE-147; ARG-418; PRO-419 AND CYS-476, VARIANT ALA-546.
Ref.5
"Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription."
Agarwal S.K., Guru S.C., Heppner C., Erdos M.R., Collins R.M., Park S.Y., Saggar S., Chandrasekharappa S.C., Collins F.S., Spiegel A.M., Marx S.J., Burns A.L.
Cell 96:143-152(1999) [PubMed] [Europe PMC] [Abstract]
Agarwal S.K., Guru S.C., Heppner C., Erdos M.R., Collins R.M., Park S.Y., Saggar S., Chandrasekharappa S.C., Collins F.S., Spiegel A.M., Marx S.J., Burns A.L.
Cell 96:143-152(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH JUND, VARIANTS MEN1 LEU-12; ARG-22; ASP-139; TYR-139; PRO-165; PRO-181; VAL-247; PRO-291; PRO-314; ARG-349 AND ARG-441.
Ref.11
"Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus."
Hughes C.M., Rozenblatt-Rosen O., Milne T.A., Copeland T.D., Levine S.S., Lee J.C., Hayes D.N., Shanmugam K.S., Bhattacharjee A., Biondi C.A., Kay G.F., Hayward N.K., Hess J.L., Meyerson M.
Mol. Cell 13:587-597(2004) [PubMed] [Europe PMC] [Abstract]
Hughes C.M., Rozenblatt-Rosen O., Milne T.A., Copeland T.D., Levine S.S., Lee J.C., Hayes D.N., Shanmugam K.S., Bhattacharjee A., Biondi C.A., Kay G.F., Hayward N.K., Hess J.L., Meyerson M.
Mol. Cell 13:587-597(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION IN H3K4 METHYLATION, IDENTIFICATION IN THE MEN1-ASSOCIATED HISTONE METHYLTRANSFERASE COMPLEX, INTERACTION WITH POLR2A AND POLR2B, VARIANTS MEN1 LEU-12; ARG-22; ASP-139; VAL-247; PRO-314; ARG-349 AND ARG-441.
Ref.19
"Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states."
Agarwal S.K., Kester M.B., Debelenko L.V., Heppner C., Emmert-Buck M.R., Skarulis M.C., Doppman J.L., Kim Y.S., Lubensky I.A., Zhuang Z., Green J.S., Guru S.C., Manickam P., Olufemi S.E., Liotta L.A., Chandrasekharappa S.C., Collins F.S., Spiegel A.M., Burns A.L., Marx S.J.
Hum. Mol. Genet. 6:1169-1175(1997) [PubMed] [Europe PMC] [Abstract]
Agarwal S.K., Kester M.B., Debelenko L.V., Heppner C., Emmert-Buck M.R., Skarulis M.C., Doppman J.L., Kim Y.S., Lubensky I.A., Zhuang Z., Green J.S., Guru S.C., Manickam P., Olufemi S.E., Liotta L.A., Chandrasekharappa S.C., Collins F.S., Spiegel A.M., Burns A.L., Marx S.J.
Hum. Mol. Genet. 6:1169-1175(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MEN1.
Ref.20
"Identification of the multiple endocrine neoplasia type 1 (MEN1) gene."
The European consortium on MEN1
Lemmens I., Van de Ven W.J.M., Kas K., Zhang C.X., Giraud S., Wautot V., Buisson N., De Witte K., Salandre J., Lenoir G., Pugeat M., Calender A., Parente F., Quincey D., Gaudray P., De Wit M.J., Lips C.J.M., Hoeppener J.W.M. , Khodaei S., Grant A.L., Weber G., Kytoelae S., Teh B.T., Farnebo F., Phelan C., Hayward N., Larsson C., Pannett A.A.J., Forbes S.A., Basset J.H.D., Thakker R.V.
Hum. Mol. Genet. 6:1177-1183(1997) [PubMed] [Europe PMC] [Abstract]
The European consortium on MEN1
Lemmens I., Van de Ven W.J.M., Kas K., Zhang C.X., Giraud S., Wautot V., Buisson N., De Witte K., Salandre J., Lenoir G., Pugeat M., Calender A., Parente F., Quincey D., Gaudray P., De Wit M.J., Lips C.J.M., Hoeppener J.W.M. , Khodaei S., Grant A.L., Weber G., Kytoelae S., Teh B.T., Farnebo F., Phelan C., Hayward N., Larsson C., Pannett A.A.J., Forbes S.A., Basset J.H.D., Thakker R.V.
Hum. Mol. Genet. 6:1177-1183(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MEN1 SER-188, VARIANT GLN-176.
Ref.22
"Characterization of mutations in patients with multiple endocrine neoplasia type 1."
Bassett J.H.D., Forbes S.A., Pannett A.A.J., Lloyd S.E., Christie P.T., Wooding C., Harding B., Besser G.M., Edwards C.R., Monson J.P., Sampson J., Wass J.A.H., Wheeler M.H., Thakker R.V.
Am. J. Hum. Genet. 62:232-244(1998) [PubMed] [Europe PMC] [Abstract]
Bassett J.H.D., Forbes S.A., Pannett A.A.J., Lloyd S.E., Christie P.T., Wooding C., Harding B., Besser G.M., Edwards C.R., Monson J.P., Sampson J., Wass J.A.H., Wheeler M.H., Thakker R.V.
Am. J. Hum. Genet. 62:232-244(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MEN1 ASP-42; PRO-165; ASP-169; SER-188 AND GLU-289.
Ref.23
"Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders."
Giraud S., Zhang C.X., Serova-Sinilnikova O., Wautot V., Salandre J., Buisson N., Waterlot C., Bauters C., Porchet N., Aubert J.-P., Emy P., Cadiot G., Delemer B., Chabre O., Niccoli P., Leprat F., Duron F., Emperauger B. , Cougard P., Goudet P., Sarfati E., Riou J.-P., Guichard S., Rodier M., Meyrier A., Caron P., Vantyghem M.-C., Assayag M., Peix J.-L., Pugeat M., Rohmer V., Vallotton M., Lenoir G., Gaudray P., Proye C., Conte-Devolx B., Chanson P., Shugart Y.Y., Goldgar D., Murat A., Calender A.
Am. J. Hum. Genet. 63:455-467(1998) [PubMed] [Europe PMC] [Abstract]
Giraud S., Zhang C.X., Serova-Sinilnikova O., Wautot V., Salandre J., Buisson N., Waterlot C., Bauters C., Porchet N., Aubert J.-P., Emy P., Cadiot G., Delemer B., Chabre O., Niccoli P., Leprat F., Duron F., Emperauger B. , Cougard P., Goudet P., Sarfati E., Riou J.-P., Guichard S., Rodier M., Meyrier A., Caron P., Vantyghem M.-C., Assayag M., Peix J.-L., Pugeat M., Rohmer V., Vallotton M., Lenoir G., Gaudray P., Proye C., Conte-Devolx B., Chanson P., Shugart Y.Y., Goldgar D., Murat A., Calender A.
Am. J. Hum. Genet. 63:455-467(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MEN1.
Ref.26
"MEN1 gene mutations in 12 MEN1 families and their associated tumors."
Bartsch D., Kopp I., Bergenfelz A., Rieder H., Muench K., Jaeger K., Deiss Y., Schudy A., Barth P., Arnold R., Rothmund M., Simon B.
Eur. J. Endocrinol. 139:416-420(1998) [PubMed] [Europe PMC] [Abstract]
Bartsch D., Kopp I., Bergenfelz A., Rieder H., Muench K., Jaeger K., Deiss Y., Schudy A., Barth P., Arnold R., Rothmund M., Simon B.
Eur. J. Endocrinol. 139:416-420(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MEN1 LYS-26 AND PRO-173.
Ref.27
"Analysis of recurrent germline mutations in the MEN1 gene encountered in apparently unrelated families."
Agarwal S.K., Debelenko L.V., Kester M.B., Guru S.C., Manickam P., Olufemi S.-E., Skarulis M.C., Heppner C., Crabtree J.S., Lubensky I.A., Zhuang Z., Kim Y.S., Chandrasekharappa S.C., Collins F.S., Liotta L.A., Spiegel A.M., Burns A.L., Emmert-Buck M.R., Marx S.J.
Hum. Mutat. 12:75-82(1998) [PubMed] [Europe PMC] [Abstract]
Agarwal S.K., Debelenko L.V., Kester M.B., Guru S.C., Manickam P., Olufemi S.-E., Skarulis M.C., Heppner C., Crabtree J.S., Lubensky I.A., Zhuang Z., Kim Y.S., Chandrasekharappa S.C., Collins F.S., Liotta L.A., Spiegel A.M., Burns A.L., Emmert-Buck M.R., Marx S.J.
Hum. Mutat. 12:75-82(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MEN1.
Ref.28
"Five novel mutations in the familial multiple endocrine neoplasia type 1 (MEN1) gene."
Cote G.J., Lee J.E., Evans D.B., Huang E., Schultz P.N., Dang G.T., Qiu H., Shetelbine S., Sellin R.V., Gagel R.F.
Hum. Mutat. 12:219-219(1998) [PubMed] [Europe PMC] [Abstract]
Cote G.J., Lee J.E., Evans D.B., Huang E., Schultz P.N., Dang G.T., Qiu H., Shetelbine S., Sellin R.V., Gagel R.F.
Hum. Mutat. 12:219-219(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MEN1 ARG-432.
Ref.29
"Absence of germ-line mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in familial pituitary adenoma in contrast to MEN1 in Japanese."
Tanaka C., Yoshimoto K., Yamada S., Nishioka H., Ii S., Moritani M., Yamaoka T., Itakura M.
J. Clin. Endocrinol. Metab. 83:960-965(1998) [PubMed] [Europe PMC] [Abstract]
Tanaka C., Yoshimoto K., Yamada S., Nishioka H., Ii S., Moritani M., Yamaoka T., Itakura M.
J. Clin. Endocrinol. Metab. 83:960-965(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MEN1 LEU-325, VARIANT ALA-546.
Ref.30
"Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism."
Teh B.T., Kytoelae S., Farnebo F., Bergman L., Wong F.K., Weber G., Hayward N., Larsson C., Skogseid B., Beckers A., Phelan C., Edwards M., Epstein M., Alford F., Hurley D., Grimmond S., Silins G., Walters M. , Stewart C., Cardinal J., Khodaei S., Parente F., Tranebjaerg L., Jorde R., Menon J., Khir A., Tan T.T., Chan S.P., Zaini A., Khalid B.A.K., Sandelin K., Thompson N., Brandi M.-L., Warth M., Stock J., Leisti J., Cameron D., Shepherd J.J., Oeberg K., Nordenskjoeld M., Salmela P.
J. Clin. Endocrinol. Metab. 83:2621-2626(1998) [PubMed] [Europe PMC] [Abstract]
Teh B.T., Kytoelae S., Farnebo F., Bergman L., Wong F.K., Weber G., Hayward N., Larsson C., Skogseid B., Beckers A., Phelan C., Edwards M., Epstein M., Alford F., Hurley D., Grimmond S., Silins G., Walters M. , Stewart C., Cardinal J., Khodaei S., Parente F., Tranebjaerg L., Jorde R., Menon J., Khir A., Tan T.T., Chan S.P., Zaini A., Khalid B.A.K., Sandelin K., Thompson N., Brandi M.-L., Warth M., Stock J., Leisti J., Cameron D., Shepherd J.J., Oeberg K., Nordenskjoeld M., Salmela P.
J. Clin. Endocrinol. Metab. 83:2621-2626(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MEN1 ASN-423, VARIANTS GLN-176 AND ALA-546.
Ref.31
"Parathyroid MEN1 gene mutations in relation to clinical characteristics of nonfamilial primary hyperparathyroidism."
Carling T., Correa P., Hessman O., Hedberg J., Skogseid B., Lindberg D., Rastad J., Westin G., Akerstrom G.
J. Clin. Endocrinol. Metab. 83:2960-2963(1998) [PubMed] [Europe PMC] [Abstract]
Carling T., Correa P., Hessman O., Hedberg J., Skogseid B., Lindberg D., Rastad J., Westin G., Akerstrom G.
J. Clin. Endocrinol. Metab. 83:2960-2963(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MEN1 ASP-139, VARIANT TRP-157.
Ref.32
"Menin mutations in MEN1 patients."
Mayr B., Brabant G., von zur Muehlen A.
J. Clin. Endocrinol. Metab. 83:3004-3005(1998) [PubMed] [Europe PMC] [Abstract]
Mayr B., Brabant G., von zur Muehlen A.
J. Clin. Endocrinol. Metab. 83:3004-3005(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MEN1 SER-428.
Ref.33
"Somatic mutations of the MEN1 tumor suppressor gene detected in sporadic angiofibromas."
Boeni R., Vortmeyer A.O., Pack S., Park W.-S., Burg G., Hofbauer G., Darling T., Liotta L., Zhuang Z.
J. Invest. Dermatol. 111:539-540(1998) [PubMed] [Europe PMC] [Abstract]
Boeni R., Vortmeyer A.O., Pack S., Park W.-S., Burg G., Hofbauer G., Darling T., Liotta L., Zhuang Z.
J. Invest. Dermatol. 111:539-540(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MEN1 ILE-135 AND LYS-364.
Ref.34
"Novel MEN1 gene mutations in familial multiple endocrine neoplasia type 1."
Sakurai A., Shirahama S., Fujimori M., Katai M., Itakura Y., Kobayashi S., Amano J., Fukushima Y., Hashizume K.
J. Hum. Genet. 43:199-201(1998) [PubMed] [Europe PMC] [Abstract]
Sakurai A., Shirahama S., Fujimori M., Katai M., Itakura Y., Kobayashi S., Amano J., Fukushima Y., Hashizume K.
J. Hum. Genet. 43:199-201(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MEN1 LYS-119 DEL AND 171-GLN--LEU-173 DEL.
Ref.35
"Identification of five novel germline mutations of the MEN1 gene in Japanese multiple endocrine neoplasia type 1 (MEN1) families."
Sato M., Matsubara S., Miyauchi A., Ohye H., Imachi H., Murao K., Takahara J.
J. Med. Genet. 35:915-919(1998) [PubMed] [Europe PMC] [Abstract]
Sato M., Matsubara S., Miyauchi A., Ohye H., Imachi H., Murao K., Takahara J.
J. Med. Genet. 35:915-919(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MEN1 GLY-45.
Ref.36
"Molecular pathology of multiple endocrine neoplasia type I: two novel germline mutations and updated classification of mutations affecting MEN1 gene."
Martin-Campos J.M., Catasus L., Chico A., Mayoral C., Lagarda E., Gallart L., Mato E., Rodriguez-Espinosa J., Matias-Guiu X., De Leiva A., Blanco-Vaca F.
Diagn. Mol. Pathol. 8:195-204(1999) [PubMed] [Europe PMC] [Abstract]
Martin-Campos J.M., Catasus L., Chico A., Mayoral C., Lagarda E., Gallart L., Mato E., Rodriguez-Espinosa J., Matias-Guiu X., De Leiva A., Blanco-Vaca F.
Diagn. Mol. Pathol. 8:195-204(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MEN1 ARG-139.
Ref.37
"A new mutation of the MEN1 gene in an Italian kindred with multiple endocrine neoplasia type 1."
Cetani F., Pardi E., Cianferotti L., Vignali E., Picone A., Miccoli P., Pinchera A., Marcocci C.
Eur. J. Endocrinol. 140:429-433(1999) [PubMed] [Europe PMC] [Abstract]
Cetani F., Pardi E., Cianferotti L., Vignali E., Picone A., Miccoli P., Pinchera A., Marcocci C.
Eur. J. Endocrinol. 140:429-433(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MEN1 PRO-449.
Ref.38
"Germline MEN1 mutations in sixteen Japanese families with multiple endocrine neoplasia type 1 (MEN1)."
Hai N., Aoki N., Matsuda A., Mori T., Kosugi S.
Eur. J. Endocrinol. 141:475-480(1999) [PubMed] [Europe PMC] [Abstract]
Hai N., Aoki N., Matsuda A., Mori T., Kosugi S.
Eur. J. Endocrinol. 141:475-480(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MEN1 ARG-188; ARG-230; TYR-246 AND PRO-258, VARIANT ALA-546.
Ref.40
"Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases."
Poncin J., Abs R., Velkeniers B., Bonduelle M., Abramowicz M., Legros J.-J., Verloes A., Meurisse M., van Gaal L., Verellen C., Koulischer L., Beckers A.
Hum. Mutat. 13:54-60(1999) [PubMed] [Europe PMC] [Abstract]
Poncin J., Abs R., Velkeniers B., Bonduelle M., Abramowicz M., Legros J.-J., Verloes A., Meurisse M., van Gaal L., Verellen C., Koulischer L., Beckers A.
Hum. Mutat. 13:54-60(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MEN1 TRP-39; TYR-177; ASP-184 AND PRO-269, VARIANTS GLN-176; PRO-272 AND ALA-546, INVOLVEMENT IN ISOLATED HYPERPARATHYROIDISM.
Ref.41
"Germline mutations in the multiple endocrine neoplasia type 1 gene: evidence for frequent splicing defects."
Mutch M.G., Dilley W.G., Sanjurjo F., Debenedetti M.K., Doherty G.M., Wells S.A. Jr., Goodfellow P.J., Lairmore T.C.
Hum. Mutat. 13:175-185(1999) [PubMed] [Europe PMC] [Abstract]
Mutch M.G., Dilley W.G., Sanjurjo F., Debenedetti M.K., Doherty G.M., Wells S.A. Jr., Goodfellow P.J., Lairmore T.C.
Hum. Mutat. 13:175-185(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MEN1 ASP-161 AND ARG-246.
Ref.42
"Germline mutations in the MEN1 gene: creation of a new splice acceptor site and insertion of 7 intron nucleotides into the mRNA."
Engelbach M., Forst T., Hankeln T., Tratzky M., Heerdt S., Pfuetzner A., Kann P., Kunt T., Schneider S., Schmidt E.R., Beyer J.
Int. J. Mol. Med. 4:483-485(1999) [PubMed] [Europe PMC] [Abstract]
Engelbach M., Forst T., Hankeln T., Tratzky M., Heerdt S., Pfuetzner A., Kann P., Kunt T., Schneider S., Schmidt E.R., Beyer J.
Int. J. Mol. Med. 4:483-485(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MEN1 PHE-160.
Ref.43
"Identification of MEN1 gene mutations in families with MEN 1 and related disorders."
Bergman L., Teh B.T., Cardinal J., Palmer J., Walters M., Shepherd J., Cameron D., Hayward N.
Br. J. Cancer 83:1009-1014(2000) [PubMed] [Europe PMC] [Abstract]
Bergman L., Teh B.T., Cardinal J., Palmer J., Walters M., Shepherd J., Cameron D., Hayward N.
Br. J. Cancer 83:1009-1014(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MEN1 LEU-234; ASP-358; SER-378 AND PRO-420.
Ref.45
"Criteria for mutation analysis in MEN 1-suspected patients: MEN 1 case-finding."
Roijers J.F.M., de Wit M.J., van der Luijt R.B., Ploos van Amstel H.K., Hoeppener J.W.M., Lips C.J.M.
Eur. J. Clin. Invest. 30:487-492(2000) [PubMed] [Europe PMC] [Abstract]
Roijers J.F.M., de Wit M.J., van der Luijt R.B., Ploos van Amstel H.K., Hoeppener J.W.M., Lips C.J.M.
Eur. J. Clin. Invest. 30:487-492(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MEN1 TRP-39; LYS-119 DEL; GLN-184; PRO-228; ARG-322; PRO-342; ASN-353; VAL-390 AND SER-549.
Ref.46
"MEN1 gene mutation analysis in Italian patients with multiple endocrine neoplasia type 1."
Morelli A., Falchetti A., Martineti V., Becherini L., Mark M., Friedman E., Brandi M.L.
Eur. J. Endocrinol. 142:131-137(2000) [PubMed] [Europe PMC] [Abstract]
Morelli A., Falchetti A., Martineti V., Becherini L., Mark M., Friedman E., Brandi M.L.
Eur. J. Endocrinol. 142:131-137(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MEN1 LYS-45; MET-220 AND ARG-349.
Ref.48
"A novel mutation E179K of the MEN1 gene predisposes for multiple endocrine neoplasia-type 1 (MEN1)."
Weinhaeusel A., Vierhapper H., Schlegl R., Wagner T., Muhr D., Scheuba C., Niederle B., Haas O.A.
Hum. Mutat. 16:533-533(2000) [PubMed] [Europe PMC] [Abstract]
Weinhaeusel A., Vierhapper H., Schlegl R., Wagner T., Muhr D., Scheuba C., Niederle B., Haas O.A.
Hum. Mutat. 16:533-533(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MEN1 LYS-184.
Ref.50
"Pituitary macroadenoma in a 5-year-old: an early expression of multiple endocrine neoplasia type 1."
Stratakis C.A., Schussheim D.H., Freedman S.M., Keil M.F., Pack S.D., Agarwal S.K., Skarulis M.C., Weil R.J., Lubensky I.A., Zhuang Z., Oldfield E.H., Marx S.J.
J. Clin. Endocrinol. Metab. 85:4776-4780(2000) [PubMed] [Europe PMC] [Abstract]
Stratakis C.A., Schussheim D.H., Freedman S.M., Keil M.F., Pack S.D., Agarwal S.K., Skarulis M.C., Weil R.J., Lubensky I.A., Zhuang Z., Oldfield E.H., Marx S.J.
J. Clin. Endocrinol. Metab. 85:4776-4780(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MEN1 ASP-139.
Ref.51
"Identification of three novel menin mutations (c.741delGTCA, c.1348T>C, c.1785delA) in unrelated Italian families affected with multiple endocrine neoplasia type 1: additional information for mutational screening."
Asteria C., Faglia G., Roncoroni R., Borretta G., Ribotto P., Beck-Peccoz P.
Hum. Mutat. 17:237-237(2001) [PubMed] [Europe PMC] [Abstract]
Asteria C., Faglia G., Roncoroni R., Borretta G., Ribotto P., Beck-Peccoz P.
Hum. Mutat. 17:237-237(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MEN1 PRO-419.
Ref.52
"Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein."
Wautot V., Vercherat C., Lespinasse J., Chambe B., Lenoir G.M., Zhang C.X., Porchet N., Cordier M., Beroud C., Calender A.
Hum. Mutat. 20:35-47(2002) [PubMed] [Europe PMC] [Abstract]
Wautot V., Vercherat C., Lespinasse J., Chambe B., Lenoir G.M., Zhang C.X., Porchet N., Cordier M., Beroud C., Calender A.
Hum. Mutat. 20:35-47(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MEN1 TRP-39; ASP-42; LEU-98; PRO-165; THR-165; PHE-167; ASP-169; ARG-170; TYR-177; PRO-228; PHE-245; ARG-286; PRO-316; PRO-319; TYR-322; ARG-322; ASP-342; ARG-346; HIS-362; ASP-373; MET-377; ASN-423; CYS-532; ASN-560 AND ARG-560.
Ref.53
"A novel six-nucleotide insertion in exon 4 of the MEN1 gene, 878insCTGCAG, in three patients with familial insulinoma and primary hyperparathyroidism."
Okamoto H., Tamada A., Hai N., Doi M., Uchimura I., Hirata Y., Kosugi S.
Jpn. J. Clin. Oncol. 32:368-370(2002) [PubMed] [Europe PMC] [Abstract]
Okamoto H., Tamada A., Hai N., Doi M., Uchimura I., Hirata Y., Kosugi S.
Jpn. J. Clin. Oncol. 32:368-370(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MEN1 LEU-GLN-266 INS.
Ref.54
"Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1."
Turner J.J.O., Leotlela P.D., Pannett A.A.J., Forbes S.A., Bassett J.H.D., Harding B., Christie P.T., Bowen-Jones D., Ellard S., Hattersley A., Jackson C.E., Pope R., Quarrell O.W., Trembath R., Thakker R.V.
J. Clin. Endocrinol. Metab. 87:2688-2693(2002) [PubMed] [Europe PMC] [Abstract]
Turner J.J.O., Leotlela P.D., Pannett A.A.J., Forbes S.A., Bassett J.H.D., Harding B., Christie P.T., Bowen-Jones D., Ellard S., Hattersley A., Jackson C.E., Pope R., Quarrell O.W., Trembath R., Thakker R.V.
J. Clin. Endocrinol. Metab. 87:2688-2693(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MEN1 LYS-119 DEL; ILE-159; GLU-368 DEL AND ASN-423.
Ref.56
"Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism."
Pannett A.A.J., Kennedy A.M., Turner J.J.O., Forbes S.A., Cavaco B.M., Bassett J.H.D., Cianferotti L., Harding B., Shine B., Flinter F., Maidment C.G.H., Trembath R., Thakker R.V.
Clin. Endocrinol. (Oxf.) 58:639-646(2003) [PubMed] [Europe PMC] [Abstract]
Pannett A.A.J., Kennedy A.M., Turner J.J.O., Forbes S.A., Cavaco B.M., Bassett J.H.D., Cianferotti L., Harding B., Shine B., Flinter F., Maidment C.G.H., Trembath R., Thakker R.V.
Clin. Endocrinol. (Oxf.) 58:639-646(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MEN1 VAL-158 AND PRO-416, INVOLVEMENT IN ISOLATED HYPERPARATHYROIDISM.
Ref.57
"Germline mutations of the MEN1 gene in Korean families with multiple endocrine neoplasia type 1 (MEN1) or MEN1-related disorders."
Park J.-H., Kim I.-J., Kang H.C., Lee S.-H., Shin Y., Kim K.-H., Lim S.-B., Kang S.-B., Lee K.U., Kim S.Y., Lee M.-S., Lee M.-K., Park J.-H., Moon S.-D., Park J.-G.
Clin. Genet. 64:48-53(2003) [PubMed] [Europe PMC] [Abstract]
Park J.-H., Kim I.-J., Kang H.C., Lee S.-H., Shin Y., Kim K.-H., Lim S.-B., Kang S.-B., Lee K.U., Kim S.Y., Lee M.-S., Lee M.-K., Park J.-H., Moon S.-D., Park J.-G.
Clin. Genet. 64:48-53(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MEN1 PRO-330.
Ref.58
"Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA) and heteroduplex analysis."
Groupe d'etude des neoplasies endocriniennes multiples
Crepin M., Escande F., Pigny P., Buisine M.-P., Calender A., Porchet N., Odou M.-F.
Electrophoresis 24:26-33(2003) [PubMed] [Europe PMC] [Abstract]
Groupe d'etude des neoplasies endocriniennes multiples
Crepin M., Escande F., Pigny P., Buisine M.-P., Calender A., Porchet N., Odou M.-F.
Electrophoresis 24:26-33(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MEN1 ARG-170; PRO-228; PHE-246; ARG-286; PRO-316; TYR-322; ASN-423 AND SER-545.
Ref.59
"A novel missense mutation of the MEN1 gene in a multiple endocrine neoplasia type 1 patient associated with carcinoid syndrome."
Ukita C., Yamaguchi M., Tanaka T., Shigeta H., Nishikawa M.
Intern. Med. 42:1112-1116(2003) [PubMed] [Europe PMC] [Abstract]
Ukita C., Yamaguchi M., Tanaka T., Shigeta H., Nishikawa M.
Intern. Med. 42:1112-1116(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MEN1 PRO-347.
Ref.60
"Mutational and gross deletion study of the MEN1 gene and correlation with clinical features in Spanish patients."
Cebrian A., Ruiz-Llorente S., Cascon A., Pollan M., Diez J.J., Pico A., Telleria D., Benitez J., Robledo M.
J. Med. Genet. 40:E72-E72(2003) [PubMed] [Europe PMC] [Abstract]
Cebrian A., Ruiz-Llorente S., Cascon A., Pollan M., Diez J.J., Pico A., Telleria D., Benitez J., Robledo M.
J. Med. Genet. 40:E72-E72(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MEN1 LYS-45 AND PRO-139, VARIANTS GLN-176 AND ALA-546.
Ref.62
"Novel mutations in the MEN1 gene in subjects with multiple endocrine neoplasia-1."
Jap T.-S., Chiu C.-Y., Won J.G.-S., Wu Y.-C., Chen H.-S.
Clin. Endocrinol. (Oxf.) 62:336-342(2005) [PubMed] [Europe PMC] [Abstract]
Jap T.-S., Chiu C.-Y., Won J.G.-S., Wu Y.-C., Chen H.-S.
Clin. Endocrinol. (Oxf.) 62:336-342(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MEN1 GLU-110 AND HIS-423.
Ref.63
"Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory."
Klein R.D., Salih S., Bessoni J., Bale A.E.
Genet. Med. 7:131-138(2005) [PubMed] [Europe PMC] [Abstract]
Klein R.D., Salih S., Bessoni J., Bale A.E.
Genet. Med. 7:131-138(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MEN1 VAL-144; ASP-161; ASP-184; LYS-184; ARG-186; MET-220; ARG-264; ARG-325; TRP-360; TYR-426; CYS-441 AND ARG-441.
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal dominant disorder characterized by tumors of the parathyroid glands, gastro-intestinal endocrine tissue, the anterior pituitary and other tissues. Cutaneous lesions and nervous-tissue tumors can exist. Prognosis in MEN1 patients is related to hormonal hypersecretion by tumors, such as hypergastrinemia causing severe peptic ulcer disease (Zollinger-Ellison syndrome, ZES), primary hyperparathyroidism, and acute forms of hyperinsulinemia.
See also OMIM:131100| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_005425 | 12 | P → L in MEN1; no effect on histone methylation; almost no effect on JUND-binding. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005426 | 22 | L → R in MEN1; no effect on histone methylation; almost no effect on JUND-binding; no repression of JUND transactivation. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005428 | 39 | L → W in MEN1. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005429 | 42 | G → D in MEN1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005430 | 45 | E → G in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039587 | 45 | E → K in MEN1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_065152 | 89 – 95 | Missing in MEN1. 1 Publication Manual assertion based on experiment ini
| 7 | |
| Natural variantiVAR_039588 | 98 | R → L in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039589 | 110 | G → E in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005431 | 119 | Missing in MEN1. 4 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005434 | 135 | K → I in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005432 | 139 | H → D in MEN1; almost complete loss of histone methylation; strong decrease in JUND-binding; no repression of JUND transactivation. 4 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039590 | 139 | H → P in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039591 | 139 | H → R in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005433 | 139 | H → Y in MEN1; familial and sporadic cases; almost no effect on JUND-binding; no repression of JUND transactivation. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005436 | 144 | F → V in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_065153 | 147 | I → F in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039592 | 158 | D → V in MEN1; also found in isolated hyperparathyroidism. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039593 | 159 | S → I in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039594 | 160 | S → F in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005437 | 165 | A → P in MEN1; strong decrease in JUND-binding. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039595 | 165 | A → T in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039596 | 167 | V → F in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005438 | 169 | A → D in MEN1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039597 | 170 | C → R in MEN1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005439 | 171 – 173 | Missing in MEN1. 1 Publication Manual assertion based on experiment ini
| 3 | |
| Natural variantiVAR_039598 | 173 | L → P in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005441 | 177 | D → Y in MEN1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005442 | 181 | A → P in MEN1; loss of JUND-binding. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005443 | 184 | E → D in MEN1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039599 | 184 | E → K in MEN1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039600 | 184 | E → Q in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039601 | 186 | H → R in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005444 | 188 | W → S in MEN1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039603 | 220 | V → M in MEN1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005446 | 228 | L → P in MEN1. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039604 | 230 | G → R in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039605 | 234 | R → L in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039606 | 245 | V → F in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039607 | 246 | C → F in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008018 | 246 | C → R in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039608 | 246 | C → Y in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005447 | 247 | A → V in MEN1; almost complete loss of histone methylation; loss of JUND-binding; no repression of JUND transactivation. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039609 | 258 | S → P in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039611 | 264 | L → R in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039613 | 266 | Q → QLQ in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005449 | 269 | L → P in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039616 | 286 | G → R in MEN1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005451 | 289 | A → E in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005452 | 291 | L → P in MEN1; almost no effect on JUND-binding. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005453 | 314 | A → P in MEN1; no effect on histone methylation; almost no effect on JUND-binding. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039619 | 316 | T → P in MEN1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005454 | 319 | R → P in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039620 | 322 | H → R in MEN1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039621 | 322 | H → Y in MEN1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039622 | 325 | P → L in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039623 | 325 | P → R in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039624 | 330 | A → P in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005455 | 342 | A → D in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039625 | 342 | A → P in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005456 | 346 | W → R in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039626 | 347 | A → P in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005457 | 349 | T → R in MEN1; almost complete loss of histone methylation; almost no effect on JUND-binding. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039627 | 353 | I → N in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039628 | 358 | Y → D in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039629 | 360 | R → W in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039630 | 362 | D → H in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005458 | 364 | E → K in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005459 | 368 | Missing in MEN1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005460 | 373 | A → D in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039631 | 377 | I → M in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039632 | 378 | P → S in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039633 | 390 | A → V in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039634 | 416 | A → P in MEN1; also found in isolated hyperparathyroidism. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_065155 | 418 | L → R in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039635 | 419 | L → P in MEN1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039636 | 420 | R → P in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005463 | 423 – 426 | Missing in MEN1. | 4 | |
| Natural variantiVAR_039637 | 423 | D → H in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005461 | 423 | D → N in MEN1. 4 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005462 | 423 | Missing in MEN1. | 1 | |
| Natural variantiVAR_039638 | 426 | C → Y in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039639 | 428 | W → S in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039640 | 432 | S → R in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039641 | 441 | W → C in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005464 | 441 | W → R in MEN1; no effect on histone methylation; almost no effect on JUND-binding; modest repression of JUND transactivation. 4 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039642 | 449 | L → P in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005465 | 452 | F → S in MEN1; sporadic; with Zollinger-Ellison syndrome. | 1 | |
| Natural variantiVAR_065156 | 476 | W → C in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039643 | 532 | R → C in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039644 | 545 | P → S in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039645 | 549 | P → S in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005467 | 560 | S → N in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039647 | 560 | S → R in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 |
MEN1 inactivating mutations are responsible for hyperfunctioning of the parathyroid glands and subsequent primary hyperparathyroidism. Primary hyperparathyroidism can occur in isolation or in association with multiple endocrine neoplasia.7 Publications
Manual assertion based on experiment ini
- Ref.24"A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors."
Teh B.T., Esapa C.T., Houlston R., Grandell U., Farnebo F., Nordenskjoeld M., Pearce C.J., Carmichael D., Larsson C., Harris P.E.
Am. J. Hum. Genet. 63:1544-1549(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT LYS-260, INVOLVEMENT IN ISOLATED HYPERPARATHYROIDISM. - Ref.25"Novel V184E MEN1 germline mutation in a Japanese kindred with familial hyperparathyroidism."
Fujimori M., Shirahama S., Sakurai A., Hashizume K., Hama Y., Ito K., Shingu K., Kobayashi S., Amano J., Fukushima Y.
Am. J. Med. Genet. 80:221-222(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT GLU-189, INVOLVEMENT IN ISOLATED HYPERPARATHYROIDISM. - Ref.40"Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases."
Poncin J., Abs R., Velkeniers B., Bonduelle M., Abramowicz M., Legros J.-J., Verloes A., Meurisse M., van Gaal L., Verellen C., Koulischer L., Beckers A.
Hum. Mutat. 13:54-60(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS MEN1 TRP-39; TYR-177; ASP-184 AND PRO-269, VARIANTS GLN-176; PRO-272 AND ALA-546, INVOLVEMENT IN ISOLATED HYPERPARATHYROIDISM. - Ref.47"A novel mutation of the MEN1 gene in a Japanese kindred with familial isolated primary hyperparathyroidism."
Honda M., Tsukada T., Tanaka H., Maruyama K., Yamaguchi K., Obara T., Yamaji T., Ishibashi M.
Eur. J. Endocrinol. 142:138-143(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT ASP-310, INVOLVEMENT IN ISOLATED HYPERPARATHYROIDISM. - Ref.49"Familial isolated hyperparathyroidism as a variant of multiple endocrine neoplasia type 1 in a large Danish pedigree."
Kassem M., Kruse T.A., Wong F.K., Larsson C., Teh B.T.
J. Clin. Endocrinol. Metab. 85:165-167(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PRO-265, INVOLVEMENT IN ISOLATED HYPERPARATHYROIDISM. - Ref.55"Genetic screening for MEN1 mutations in families presenting with familial primary hyperparathyroidism."
Perrier N.D., Villablanca A., Larsson C., Wong M., Ituarte P., Teh B.T., Clark O.H.
World J. Surg. 26:907-913(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT HIS-282, INVOLVEMENT IN ISOLATED HYPERPARATHYROIDISM. - Ref.56"Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism."
Pannett A.A.J., Kennedy A.M., Turner J.J.O., Forbes S.A., Cavaco B.M., Bassett J.H.D., Cianferotti L., Harding B., Shine B., Flinter F., Maidment C.G.H., Trembath R., Thakker R.V.
Clin. Endocrinol. (Oxf.) 58:639-646(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS MEN1 VAL-158 AND PRO-416, INVOLVEMENT IN ISOLATED HYPERPARATHYROIDISM.
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNET More...DisGeNETi | 4221 |
GeneReviews a resource of expert-authored, peer-reviewed disease descriptions. More...GeneReviewsi | MEN1 |
MalaCards human disease database More...MalaCardsi | MEN1 |
| MIMi | 131100 phenotype |
Open Targets More...OpenTargetsi | ENSG00000133895 |
Orphanet; a database dedicated to information on rare diseases and orphan drugs More...Orphaneti | 99879 Familial isolated hyperparathyroidism 97279 Insulinoma 652 Multiple endocrine neoplasia type 1 314790 Null pituitary adenoma 2965 Prolactinoma 314786 Silent pituitary adenoma |
The Pharmacogenetics and Pharmacogenomics Knowledge Base More...PharmGKBi | PA30746 |
Chemistry databases
ChEMBL database of bioactive drug-like small molecules More...ChEMBLi | CHEMBL1615381 |
Polymorphism and mutation databases
BioMuta curated single-nucleotide variation and disease association database More...BioMutai | MEN1 |
<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi
Molecule processing
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_0000096411 | 1 – 615 | MeninAdd BLAST | 615 |
Amino acid modifications
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 492 | PhosphoserineCombined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei
| 1 | |
| Modified residuei | 548 | PhosphoserineCombined sources Manual assertion inferred from combination of experimental and computational evidencei
| 1 | |
| Modified residuei | 599 | PhosphothreonineCombined sources Manual assertion inferred from combination of experimental and computational evidencei
| 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
Encyclopedia of Proteome Dynamics More...EPDi | O00255 |
MaxQB - The MaxQuant DataBase More...MaxQBi | O00255 |
PaxDb, a database of protein abundance averages across all three domains of life More...PaxDbi | O00255 |
PeptideAtlas More...PeptideAtlasi | O00255 |
PRoteomics IDEntifications database More...PRIDEi | O00255 |
ProteomicsDB human proteome resource More...ProteomicsDBi | 47808 47809 [O00255-2] 47810 [O00255-3] |
PTM databases
iPTMnet integrated resource for PTMs in systems biology context More...iPTMneti | O00255 |
Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat. More...PhosphoSitePlusi | O00255 |
<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni
<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi
Ubiquitous.
Gene expression databases
Bgee dataBase for Gene Expression Evolution More...Bgeei | ENSG00000133895 Expressed in 201 organ(s), highest expression level in cerebellar hemisphere |
CleanEx database of gene expression profiles More...CleanExi | HS_MEN1 HS_SCG2 |
ExpressionAtlas, Differential and Baseline Expression More...ExpressionAtlasi | O00255 baseline and differential |
Genevisible search portal to normalized and curated expression data from Genevestigator More...Genevisiblei | O00255 HS |
Organism-specific databases
Human Protein Atlas More...HPAi | HPA030342 |
<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni
<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei
Component of the MLL-HCF complex, at least composed of KMT2A/MLL1, MEN1, ASH2L, RBBP5, DPY30, WDR5, HCFC1 and HCFC2. Component of the menin-associated histone methyltransferase complex, at least composed of KMT2B/MLL4, MEN1, ASH2L, RBBP5, DPY30 and WDR5. Interacts with POLR2B. Interacts with POLR2A phosphorylated at 'Ser-5', but not with the unphosphorylated, nor 'Ser-2' phosphorylated POLR2A forms. Interacts with FANCD2 and DBF4. Interacts with JUND. Interacts with SMAD3, but not with SMAD2, nor SMAD4. Directly interacts with NFKB1, NFKB2 and RELA.8 Publications
Manual assertion based on experiment ini
- Ref.5"Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription."
Agarwal S.K., Guru S.C., Heppner C., Erdos M.R., Collins R.M., Park S.Y., Saggar S., Chandrasekharappa S.C., Collins F.S., Spiegel A.M., Marx S.J., Burns A.L.
Cell 96:143-152(1999) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH JUND, VARIANTS MEN1 LEU-12; ARG-22; ASP-139; TYR-139; PRO-165; PRO-181; VAL-247; PRO-291; PRO-314; ARG-349 AND ARG-441. - Ref.6"The tumor suppressor protein menin interacts with NF-kappaB proteins and inhibits NF-kappaB-mediated transactivation."
Heppner C., Bilimoria K.Y., Agarwal S.K., Kester M., Whitty L.J., Guru S.C., Chandrasekharappa S.C., Collins F.S., Spiegel A.M., Marx S.J., Burns A.L.
Oncogene 20:4917-4925(2001) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, INTERACTION WITH NFKB1; NFKB2 AND RELA. - Ref.7"Inactivation of menin, a Smad3-interacting protein, blocks transforming growth factor type beta signaling."
Kaji H., Canaff L., Lebrun J.J., Goltzman D., Hendy G.N.
Proc. Natl. Acad. Sci. U.S.A. 98:3837-3842(2001) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, INTERACTION WITH SMAD3. - Ref.8"Menin associates with FANCD2, a protein involved in repair of DNA damage."
Jin S., Mao H., Schnepp R.W., Sykes S.M., Silva A.C., D'Andrea A.D., Hua X.
Cancer Res. 63:4204-4210(2003) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH FANCD2. - Ref.10"Functional interaction between tumor suppressor menin and activator of S-phase kinase."
Schnepp R.W., Hou Z., Wang H., Petersen C., Silva A., Masai H., Hua X.
Cancer Res. 64:6791-6796(2004) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH DBF4. - Ref.11"Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus."
Hughes C.M., Rozenblatt-Rosen O., Milne T.A., Copeland T.D., Levine S.S., Lee J.C., Hayes D.N., Shanmugam K.S., Bhattacharjee A., Biondi C.A., Kay G.F., Hayward N.K., Hess J.L., Meyerson M.
Mol. Cell 13:587-597(2004) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION IN H3K4 METHYLATION, IDENTIFICATION IN THE MEN1-ASSOCIATED HISTONE METHYLTRANSFERASE COMPLEX, INTERACTION WITH POLR2A AND POLR2B, VARIANTS MEN1 LEU-12; ARG-22; ASP-139; VAL-247; PRO-314; ARG-349 AND ARG-441. - Ref.12"Leukemia proto-oncoprotein MLL forms a SET1-like histone methyltransferase complex with menin to regulate Hox gene expression."
Yokoyama A., Wang Z., Wysocka J., Sanyal M., Aufiero D.J., Kitabayashi I., Herr W., Cleary M.L.
Mol. Cell. Biol. 24:5639-5649(2004) [PubMed] [Europe PMC] [Abstract]Cited for: IDENTIFICATION IN THE MLL-HCF COMPLEX. - Ref.13"PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex."
Cho Y.-W., Hong T., Hong S., Guo H., Yu H., Kim D., Guszczynski T., Dressler G.R., Copeland T.D., Kalkum M., Ge K.
J. Biol. Chem. 282:20395-20406(2007) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH DPY30.
<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi
| With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| CHEK1 | O14757 | 2 | EBI-592789,EBI-974488 | |
| FANCD2 | Q9BXW9 | 4 | EBI-592789,EBI-359343 | |
| JUND | P17535 | 6 | EBI-9869387,EBI-2682803 | |
| KMT2A | Q03164 | 12 | EBI-9869387,EBI-591370 | |
| MYH9 | P35579 | 4 | EBI-9869387,EBI-350338 | |
| NFKB1 | P19838 | 2 | EBI-592789,EBI-697771 | |
| NFKB2 | Q00653 | 3 | EBI-9869387,EBI-9869360 | |
| Nme1 | Q05982 | 5 | EBI-9869387,EBI-1165329 | From Rattus norvegicus. |
| RELA | Q04206 | 4 | EBI-9869387,EBI-73886 |
GO - Molecular functioni
- protein binding, bridging Source: UniProtKBInferred from direct assayi
- protein N-terminus binding Source: UniProtKBInferred from physical interactioni
- R-SMAD binding Source: BHF-UCLInferred from physical interactioni
Protein-protein interaction databases
The Biological General Repository for Interaction Datasets (BioGrid) More...BioGridi | 110384, 68 interactors |
ComplexPortal: manually curated resource of macromolecular complexes More...ComplexPortali | CPX-497 Menin-JUND transcription inhibition complex |
CORUM comprehensive resource of mammalian protein complexes More...CORUMi | O00255 |
Database of interacting proteins More...DIPi | DIP-24236N |
Protein interaction database and analysis system More...IntActi | O00255, 29 interactors |
Molecular INTeraction database More...MINTi | O00255 |
STRING: functional protein association networks More...STRINGi | 9606.ENSP00000337088 |
Chemistry databases
BindingDB database of measured binding affinities More...BindingDBi | O00255 |
<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more detailsHide details| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 5 – 8 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
| Helixi | 16 – 27 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 12 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined beta strands within the protein sequence.<p><a href='/help/strand' target='_top'>More...</a></p>Beta strandi | 29 – 31 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
| Helixi | 34 – 49 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 16 | |
| Beta strandi | 63 – 67 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 5 | |
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined hydrogen-bonded turns within the protein sequence. These elements correspond to the DSSP secondary structure code ‘T’.<p><a href='/help/turn' target='_top'>More...</a></p>Turni | 70 – 72 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
| Beta strandi | 74 – 79 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 6 | |
| Helixi | 83 – 100 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 18 | |
| Helixi | 103 – 105 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
| Helixi | 109 – 111 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
| Helixi | 115 – 127 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 13 | |
| Beta strandi | 137 – 139 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
| Helixi | 143 – 149 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 7 | |
| Helixi | 159 – 172 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 14 | |
| Beta strandi | 179 – 182 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
| Beta strandi | 187 – 192 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 6 | |
| Helixi | 193 – 195 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
| Beta strandi | 197 – 199 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
| Beta strandi | 205 – 207 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
| Helixi | 209 – 211 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
| Helixi | 217 – 221 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 5 | |
| Helixi | 225 – 230 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 6 | |
| Helixi | 237 – 246 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 10 | |
| Beta strandi | 251 – 253 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
| Helixi | 259 – 275 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 17 | |
| Turni | 276 – 280 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 5 | |
| Helixi | 282 – 294 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 13 | |
| Beta strandi | 298 – 300 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
| Helixi | 303 – 317 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 15 | |
| Helixi | 324 – 335 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 12 | |
| Helixi | 339 – 353 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 15 | |
| Helixi | 360 – 362 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
| Helixi | 363 – 374 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 12 | |
| Helixi | 376 – 389 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 14 | |
| Helixi | 408 – 410 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
| Helixi | 412 – 429 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 18 | |
| Helixi | 439 – 450 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 12 | |
| Helixi | 454 – 457 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
| Beta strandi | 461 – 463 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
| Beta strandi | 555 – 557 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
| Helixi | 561 – 566 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 6 | |
| Helixi | 567 – 569 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
| Beta strandi | 572 – 574 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
| Helixi | 577 – 585 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 9 | |
| Helixi | 603 – 612 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 10 |
3D structure databases
Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase More...ProteinModelPortali | O00255 |
SWISS-MODEL Repository - a database of annotated 3D protein structure models More...SMRi | O00255 |
Database of comparative protein structure models More...ModBasei | Search... |
MobiDB: a database of protein disorder and mobility annotations More...MobiDBi | Search... |
<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi
Region
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni | 219 – 395 | Interaction with FANCD21 Publication Manual assertion based on experiment ini
| 177 |
Phylogenomic databases
evolutionary genealogy of genes: Non-supervised Orthologous Groups More...eggNOGi | ENOG410IF2R Eukaryota ENOG410ZNZF LUCA |
Ensembl GeneTree More...GeneTreei | ENSGT00390000014237 |
The HOVERGEN Database of Homologous Vertebrate Genes More...HOVERGENi | HBG000208 |
InParanoid: Eukaryotic Ortholog Groups More...InParanoidi | O00255 |
KEGG Orthology (KO) More...KOi | K14970 |
Identification of Orthologs from Complete Genome Data More...OMAi | NNEHIYP |
Database of Orthologous Groups More...OrthoDBi | EOG091G066V |
Database for complete collections of gene phylogenies More...PhylomeDBi | O00255 |
TreeFam database of animal gene trees More...TreeFami | TF323888 |
Family and domain databases
Conserved Domains Database More...CDDi | cd14456 Menin, 1 hit |
Integrated resource of protein families, domains and functional sites More...InterProi | View protein in InterPro IPR007747 Menin |
The PANTHER Classification System More...PANTHERi | PTHR12693 PTHR12693, 1 hit |
Pfam protein domain database More...Pfami | View protein in Pfam PF05053 Menin, 2 hits |
<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i
<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.
This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basketAdded to basketThis entry has 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: O00255-1) [UniParc]FASTAAdd to basketAdded to basket
Also known as: Long
This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
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MGLKAAQKTL FPLRSIDDVV RLFAAELGRE EPDLVLLSLV LGFVEHFLAV
60 70 80 90 100
NRVIPTNVPE LTFQPSPAPD PPGGLTYFPV ADLSIIAALY ARFTAQIRGA
110 120 130 140 150
VDLSLYPREG GVSSRELVKK VSDVIWNSLS RSYFKDRAHI QSLFSFITGW
160 170 180 190 200
SPVGTKLDSS GVAFAVVGAC QALGLRDVHL ALSEDHAWVV FGPNGEQTAE
210 220 230 240 250
VTWHGKGNED RRGQTVNAGV AERSWLYLKG SYMRCDRKME VAFMVCAINP
260 270 280 290 300
SIDLHTDSLE LLQLQQKLLW LLYDLGHLER YPMALGNLAD LEELEPTPGR
310 320 330 340 350
PDPLTLYHKG IASAKTYYRD EHIYPYMYLA GYHCRNRNVR EALQAWADTA
360 370 380 390 400
TVIQDYNYCR EDEEIYKEFF EVANDVIPNL LKEAASLLEA GEERPGEQSQ
410 420 430 440 450
GTQSQGSALQ DPECFAHLLR FYDGICKWEE GSPTPVLHVG WATFLVQSLG
460 470 480 490 500
RFEGQVRQKV RIVSREAEAA EAEEPWGEEA REGRRRGPRR ESKPEEPPPP
510 520 530 540 550
KKPALDKGLG TGQGAVSGPP RKPPGTVAGT ARGPEGGSTA QVPAPTASPP
560 570 580 590 600
PEGPVLTFQS EKMKGMKELL VATKINSSAI KLQLTAQSQV QMKKQKVSTP
610
SDYTLSFLKR QRKGL
Length:615
Mass (Da):68,023
Last modified:January 11, 2011 - v4
<p>The checksum is a form of redundancy check that is calculated
from the sequence. It is useful for tracking sequence updates.</p>
<p>It should be noted that while, in theory, two different sequences could
have the same checksum value, the likelihood that this would happen
is extremely low.</p>
<p>However UniProtKB may contain entries with identical sequences in case
of multiple genes (paralogs).</p>
<p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64)
using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1.
The algorithm is described in the ISO 3309 standard.
</p>
<p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br />
<strong>Cyclic redundancy and other checksums</strong><br />
<a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p>
Checksum:iDDDF850EA5AB77B4
Isoform 2 (identifier: O00255-2) [UniParc]FASTAAdd to basketAdded to basket
Also known as: Short
The sequence of this isoform differs from the canonical sequence as follows:
149-153: Missing.
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MGLKAAQKTL FPLRSIDDVV RLFAAELGRE EPDLVLLSLV LGFVEHFLAV
60 70 80 90 100
NRVIPTNVPE LTFQPSPAPD PPGGLTYFPV ADLSIIAALY ARFTAQIRGA
110 120 130 140 150
VDLSLYPREG GVSSRELVKK VSDVIWNSLS RSYFKDRAHI QSLFSFITGT
160 170 180 190 200
KLDSSGVAFA VVGACQALGL RDVHLALSED HAWVVFGPNG EQTAEVTWHG
210 220 230 240 250
KGNEDRRGQT VNAGVAERSW LYLKGSYMRC DRKMEVAFMV CAINPSIDLH
260 270 280 290 300
TDSLELLQLQ QKLLWLLYDL GHLERYPMAL GNLADLEELE PTPGRPDPLT
310 320 330 340 350
LYHKGIASAK TYYRDEHIYP YMYLAGYHCR NRNVREALQA WADTATVIQD
360 370 380 390 400
YNYCREDEEI YKEFFEVAND VIPNLLKEAA SLLEAGEERP GEQSQGTQSQ
410 420 430 440 450
GSALQDPECF AHLLRFYDGI CKWEEGSPTP VLHVGWATFL VQSLGRFEGQ
460 470 480 490 500
VRQKVRIVSR EAEAAEAEEP WGEEAREGRR RGPRRESKPE EPPPPKKPAL
510 520 530 540 550
DKGLGTGQGA VSGPPRKPPG TVAGTARGPE GGSTAQVPAP TASPPPEGPV
560 570 580 590 600
LTFQSEKMKG MKELLVATKI NSSAIKLQLT AQSQVQMKKQ KVSTPSDYTL
610
SFLKRQRKGL
Isoform 3 (identifier: O00255-3) [UniParc]FASTAAdd to basketAdded to basket
The sequence of this isoform differs from the canonical sequence as follows:
149-153: Missing.
189-223: Missing.
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Show »10 20 30 40 50
MGLKAAQKTL FPLRSIDDVV RLFAAELGRE EPDLVLLSLV LGFVEHFLAV
60 70 80 90 100
NRVIPTNVPE LTFQPSPAPD PPGGLTYFPV ADLSIIAALY ARFTAQIRGA
110 120 130 140 150
VDLSLYPREG GVSSRELVKK VSDVIWNSLS RSYFKDRAHI QSLFSFITGT
160 170 180 190 200
KLDSSGVAFA VVGACQALGL RDVHLALSED HAWSWLYLKG SYMRCDRKME
210 220 230 240 250
VAFMVCAINP SIDLHTDSLE LLQLQQKLLW LLYDLGHLER YPMALGNLAD
260 270 280 290 300
LEELEPTPGR PDPLTLYHKG IASAKTYYRD EHIYPYMYLA GYHCRNRNVR
310 320 330 340 350
EALQAWADTA TVIQDYNYCR EDEEIYKEFF EVANDVIPNL LKEAASLLEA
360 370 380 390 400
GEERPGEQSQ GTQSQGSALQ DPECFAHLLR FYDGICKWEE GSPTPVLHVG
410 420 430 440 450
WATFLVQSLG RFEGQVRQKV RIVSREAEAA EAEEPWGEEA REGRRRGPRR
460 470 480 490 500
ESKPEEPPPP KKPALDKGLG TGQGAVSGPP RKPPGTVAGT ARGPEGGSTA
510 520 530 540 550
QVPAPTASPP PEGPVLTFQS EKMKGMKELL VATKINSSAI KLQLTAQSQV
560 570
QMKKQKVSTP SDYTLSFLKR QRKGL
<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket| Entry | Entry name | Protein names | Gene names | Length | Annotation | ||
|---|---|---|---|---|---|---|---|
| E7EN32 | E7EN32_HUMAN | Menin Menin | MEN1 | 555 | Annotation score: Annotation score:1 out of 5 <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p> | ||
| Q9GZQ5 | Q9GZQ5_HUMAN | Menin Menin | MEN1 | 146 | Annotation score: Annotation score:1 out of 5 <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p> | ||
| E7ET29 | E7ET29_HUMAN | Menin Menin | MEN1 | 346 | Annotation score: Annotation score:1 out of 5 <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p> | ||
| E7EPR4 | E7EPR4_HUMAN | Menin Menin | MEN1 | 281 | Annotation score: Annotation score:1 out of 5 <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p> | ||
| E7ENS2 | E7ENS2_HUMAN | Menin Menin | MEN1 | 261 | Annotation score: Annotation score:1 out of 5 <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p> | ||
<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni
The sequence ABQ12624 differs from that shown. Reason: Frameshift at position 383. The frameshift is caused by a single nucleotide deletion which is found in a MEN1 kindred.Curated
The sequence ABQ12627 differs from that shown. Reason: Frameshift at position 97. The frameshift is caused by a single nucleotide deletion which is found in a MEN1 kindred.Curated
Natural variant
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_005425 | 12 | P → L in MEN1; no effect on histone methylation; almost no effect on JUND-binding. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005426 | 22 | L → R in MEN1; no effect on histone methylation; almost no effect on JUND-binding; no repression of JUND transactivation. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005427 | 26 | E → K in parathyroid adenoma and MEN1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005428 | 39 | L → W in MEN1. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005429 | 42 | G → D in MEN1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005430 | 45 | E → G in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039587 | 45 | E → K in MEN1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_065152 | 89 – 95 | Missing in MEN1. 1 Publication Manual assertion based on experiment ini
| 7 | |
| Natural variantiVAR_039588 | 98 | R → L in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039589 | 110 | G → E in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005431 | 119 | Missing in MEN1. 4 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005434 | 135 | K → I in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005432 | 139 | H → D in MEN1; almost complete loss of histone methylation; strong decrease in JUND-binding; no repression of JUND transactivation. 4 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039590 | 139 | H → P in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039591 | 139 | H → R in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005433 | 139 | H → Y in MEN1; familial and sporadic cases; almost no effect on JUND-binding; no repression of JUND transactivation. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005436 | 144 | F → V in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_065153 | 147 | I → F in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_065154 | 157 | L → W in parathyroid tumors; somatic. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039592 | 158 | D → V in MEN1; also found in isolated hyperparathyroidism. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039593 | 159 | S → I in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039594 | 160 | S → F in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008017 | 161 | G → D in MEN1 and parathyroid tumor. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005437 | 165 | A → P in MEN1; strong decrease in JUND-binding. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039595 | 165 | A → T in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039596 | 167 | V → F in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005438 | 169 | A → D in MEN1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039597 | 170 | C → R in MEN1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005439 | 171 – 173 | Missing in MEN1. 1 Publication Manual assertion based on experiment ini
| 3 | |
| Natural variantiVAR_039598 | 173 | L → P in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005440 | 176 | R → Q6 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005441 | 177 | D → Y in MEN1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005442 | 181 | A → P in MEN1; loss of JUND-binding. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005443 | 184 | E → D in MEN1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039599 | 184 | E → K in MEN1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039600 | 184 | E → Q in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039601 | 186 | H → R in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039602 | 188 | W → R in MEN1 and parathyroid tumor. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005444 | 188 | W → S in MEN1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005445 | 189 | V → E Probable disease-associated mutation found in isolated hyperparathyroidism. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_064937 | 220 | V → F Found in a parathyroid carcinoma sample; somatic mutation. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039603 | 220 | V → M in MEN1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005446 | 228 | L → P in MEN1. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039604 | 230 | G → R in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039605 | 234 | R → L in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039606 | 245 | V → F in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039607 | 246 | C → F in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008018 | 246 | C → R in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039608 | 246 | C → Y in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005447 | 247 | A → V in MEN1; almost complete loss of histone methylation; loss of JUND-binding; no repression of JUND transactivation. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039609 | 258 | S → P in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039610 | 258 | S → W in parathyroid tumor. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005448 | 260 | E → K Probable disease-associated mutation found in isolated hyperparathyroidism. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039611 | 264 | L → R in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039612 | 265 | Q → P Probable disease-associated mutation found in isolated hyperparathyroidism. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039613 | 266 | Q → QLQ in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005449 | 269 | L → P in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005450 | 272 | L → P Probable disease-associated mutation found in isolated hyperparathyroidism. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039614 | 279 | E → A in parathyroid tumor. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039615 | 282 | P → H Probable disease-associated mutation found in isolated hyperparathyroidism. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039616 | 286 | G → R in MEN1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005451 | 289 | A → E in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039617 | 289 | A → P in parathyroid tumor. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005452 | 291 | L → P in MEN1; almost no effect on JUND-binding. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039618 | 310 | G → D Probable disease-associated mutation found in isolated hyperparathyroidism. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005453 | 314 | A → P in MEN1; no effect on histone methylation; almost no effect on JUND-binding. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039619 | 316 | T → P in MEN1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005454 | 319 | R → P in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039620 | 322 | H → R in MEN1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039621 | 322 | H → Y in MEN1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039622 | 325 | P → L in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039623 | 325 | P → R in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039624 | 330 | A → P in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005455 | 342 | A → D in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039625 | 342 | A → P in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_005456 | 346 | W → R in MEN1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_039626 | 347 | A → P in MEN1. 1 Publication Manual assertion based on experiment ini
|