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O00255 (MEN1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 138. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Menin
Gene names
Name:MEN1
Synonyms:SCG2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length615 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.6 Ref.7 Ref.8 Ref.9 Ref.11

Subunit structure

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. Ref.5 Ref.6 Ref.7 Ref.8 Ref.10 Ref.11 Ref.12 Ref.13

Subcellular location

Nucleus. Note: Concentrated in nuclear body-like structures. Relocates to the nuclear matrix upon gamma irradiation. Ref.8

Tissue specificity

Ubiquitous.

Involvement in disease

Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]: Autosomal 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.3 Ref.5 Ref.11 Ref.17 Ref.18 Ref.20 Ref.21 Ref.24 Ref.25 Ref.26 Ref.27 Ref.28 Ref.29 Ref.30 Ref.31 Ref.32 Ref.33 Ref.34 Ref.35 Ref.36 Ref.38 Ref.39 Ref.40 Ref.41 Ref.43 Ref.44 Ref.46 Ref.48 Ref.49 Ref.50 Ref.51 Ref.52 Ref.54 Ref.55 Ref.56 Ref.57 Ref.58 Ref.60 Ref.61

Familial isolated hyperparathyroidism (FIHP) [MIM:145000]: Autosomal dominant disorder characterized by hypercalcemia, elevated parathyroid hormone (PTH) levels, and uniglandular or multiglandular parathyroid tumors.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.22 Ref.23 Ref.38 Ref.45 Ref.47 Ref.53 Ref.54

Sequence caution

The sequence ABQ12624.1 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.

The sequence ABQ12627.1 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.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
   LigandDNA-binding
   Molecular functionChromatin regulator
Repressor
   PTMPhosphoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processDNA repair

Non-traceable author statement Ref.8. Source: UniProtKB

MAPK cascade

Inferred from direct assay PubMed 12226747. Source: UniProtKB

brain development

Inferred from electronic annotation. Source: Ensembl

cell cycle arrest

Inferred from electronic annotation. Source: Ensembl

cellular response to DNA damage stimulus

Inferred from direct assay PubMed 16690369. Source: UniProtKB

chromatin remodeling

Inferred from electronic annotation. Source: Ensembl

embryonic skeletal system morphogenesis

Inferred from electronic annotation. Source: Ensembl

gene expression

Traceable author statement. Source: Reactome

hemopoiesis

Inferred from electronic annotation. Source: Ensembl

histone lysine methylation

Inferred from direct assay Ref.11. Source: GOC

leukocyte homeostasis

Inferred from electronic annotation. Source: Ensembl

maternal process involved in female pregnancy

Inferred from electronic annotation. Source: Ensembl

negative regulation of JNK cascade

Inferred from direct assay PubMed 12226747. Source: UniProtKB

negative regulation of cell cycle

Inferred from direct assay PubMed 15331604. Source: UniProtKB

negative regulation of cell proliferation

Inferred from direct assay PubMed 15331604. Source: UniProtKB

negative regulation of cyclin-dependent protein serine/threonine kinase activity

Inferred from mutant phenotype PubMed 15640349. Source: UniProtKB

negative regulation of organ growth

Inferred from electronic annotation. Source: Ensembl

negative regulation of osteoblast differentiation

Inferred from genetic interaction PubMed 15563473. Source: MGI

negative regulation of protein phosphorylation

Inferred from direct assay PubMed 12226747. Source: UniProtKB

negative regulation of sequence-specific DNA binding transcription factor activity

Inferred from direct assay Ref.6PubMed 12226747. Source: UniProtKB

negative regulation of telomerase activity

Inferred from mutant phenotype Ref.9. Source: UniProtKB

negative regulation of transcription from RNA polymerase II promoter

Inferred from direct assay Ref.5. Source: UniProtKB

negative regulation of transcription, DNA-templated

Inferred from direct assay PubMed 12226747. Source: UniProtKB

osteoblast development

Inferred from genetic interaction PubMed 15563473. Source: MGI

osteoblast fate commitment

Inferred from electronic annotation. Source: Ensembl

palate development

Inferred from electronic annotation. Source: Ensembl

positive regulation of apoptotic process

Inferred from electronic annotation. Source: Ensembl

positive regulation of cell division

Inferred from electronic annotation. Source: Ensembl

positive regulation of cysteine-type endopeptidase activity involved in apoptotic process

Inferred from electronic annotation. Source: Ensembl

positive regulation of histone methylation

Inferred from electronic annotation. Source: Ensembl

positive regulation of osteoblast differentiation

Inferred from electronic annotation. Source: Ensembl

positive regulation of protein binding

Inferred from direct assay PubMed 20484083. Source: UniProtKB

positive regulation of transcription from RNA polymerase II promoter

Traceable author statement. Source: Reactome

positive regulation of transforming growth factor beta receptor signaling pathway

Inferred from mutant phenotype Ref.7. Source: UniProtKB

regulation of activin receptor signaling pathway

Inferred from electronic annotation. Source: Ensembl

response to UV

Inferred from direct assay PubMed 16690369. Source: UniProtKB

response to gamma radiation

Inferred from direct assay Ref.8. Source: UniProtKB

transcription initiation from RNA polymerase II promoter

Traceable author statement. Source: Reactome

transcription, DNA-templated

Traceable author statement. Source: Reactome

transforming growth factor beta receptor signaling pathway

Traceable author statement. Source: Reactome

   Cellular_componentchromatin

Inferred from direct assay Ref.8. Source: UniProtKB

cleavage furrow

Inferred from direct assay PubMed 14508515. Source: UniProtKB

cytoplasm

Inferred from direct assay PubMed 11500056. Source: UniProtKB

cytosol

Inferred from direct assay PubMed 14508515. Source: UniProtKB

histone methyltransferase complex

Inferred from direct assay Ref.13. Source: MGI

nuclear matrix

Inferred from direct assay Ref.8. Source: UniProtKB

nucleoplasm

Traceable author statement. Source: Reactome

nucleus

Inferred from direct assay PubMed 14508515Ref.12PubMed 9465067. Source: UniProtKB

protein complex

Inferred from direct assay Ref.12. Source: UniProtKB

   Molecular_functionR-SMAD binding

Inferred from physical interaction Ref.7. Source: BHF-UCL

Y-form DNA binding

Inferred from direct assay PubMed 15331604. Source: UniProtKB

chromatin binding

Inferred from electronic annotation. Source: Ensembl

double-stranded DNA binding

Inferred from direct assay PubMed 15331604. Source: UniProtKB

four-way junction DNA binding

Inferred from direct assay PubMed 15331604. Source: UniProtKB

protein N-terminus binding

Inferred from physical interaction Ref.6. Source: UniProtKB

protein binding, bridging

Inferred from direct assay PubMed 20484083. Source: UniProtKB

sequence-specific DNA binding

Inferred from electronic annotation. Source: Ensembl

transcription regulatory region DNA binding

Inferred from direct assay PubMed 20484083. Source: UniProtKB

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

CHEK1O147572EBI-592789,EBI-974488
FANCD2Q9BXW94EBI-592789,EBI-359343
MYH9P355797EBI-592789,EBI-350338
Nme1Q059825EBI-592789,EBI-1165329From a different organism.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O00255-1)

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.
Isoform 2 (identifier: O00255-2)

Also known as: Short;

The sequence of this isoform differs from the canonical sequence as follows:
     149-153: Missing.
Isoform 3 (identifier: O00255-3)

The sequence of this isoform differs from the canonical sequence as follows:
     149-153: Missing.
     189-223: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 615615Menin
PRO_0000096411

Regions

Region219 – 395177Interaction with FANCD2

Amino acid modifications

Modified residue5991Phosphothreonine Ref.15

Natural variations

Alternative sequence149 – 1535Missing in isoform 2 and isoform 3.
VSP_004323
Alternative sequence189 – 22335Missing in isoform 3.
VSP_015854
Natural variant121P → L in MEN1; no effect on histone methylation; almost no effect on JUND-binding. Ref.5 Ref.11
VAR_005425
Natural variant221L → R in MEN1; no effect on histone methylation; almost no effect on JUND-binding; no repression of JUND transactivation. Ref.1 Ref.5 Ref.11
VAR_005426
Natural variant261E → K in parathyroid adenoma and MEN1. Ref.19 Ref.24
Corresponds to variant rs28931612 [ dbSNP | Ensembl ].
VAR_005427
Natural variant391L → W in MEN1. Ref.38 Ref.43 Ref.50
VAR_005428
Natural variant421G → D in MEN1. Ref.20 Ref.50
VAR_005429
Natural variant451E → G in MEN1. Ref.33
VAR_005430
Natural variant451E → K in MEN1. Ref.44 Ref.58
VAR_039587
Natural variant89 – 957Missing in MEN1.
VAR_065152
Natural variant981R → L in MEN1. Ref.50
VAR_039588
Natural variant1101G → E in MEN1. Ref.60
VAR_039589
Natural variant1191Missing in MEN1. Ref.1 Ref.32 Ref.43 Ref.52
VAR_005431
Natural variant1351K → I in MEN1. Ref.31
VAR_005434
Natural variant1391H → D in MEN1; almost complete loss of histone methylation; strong decrease in JUND-binding; no repression of JUND transactivation. Ref.5 Ref.11 Ref.29 Ref.48
VAR_005432
Natural variant1391H → P in MEN1. Ref.58
VAR_039590
Natural variant1391H → R in MEN1. Ref.34
VAR_039591
Natural variant1391H → Y in MEN1; familial and sporadic cases; almost no effect on JUND-binding; no repression of JUND transactivation. Ref.5
VAR_005433
Natural variant1441F → V in MEN1. Ref.61
VAR_005436
Natural variant1471I → F in MEN1. Ref.3
VAR_065153
Natural variant1571L → W in parathyroid tumors; somatic. Ref.29
VAR_065154
Natural variant1581D → V in MEN1 and FIHP. Ref.54
VAR_039592
Natural variant1591S → I in MEN1. Ref.52
VAR_039593
Natural variant1601S → F in MEN1. Ref.40
VAR_039594
Natural variant1611G → D in MEN1 and parathyroid tumor. Ref.39 Ref.42 Ref.61
VAR_008017
Natural variant1651A → P in MEN1; strong decrease in JUND-binding. Ref.5 Ref.20 Ref.50
VAR_005437
Natural variant1651A → T in MEN1. Ref.50
VAR_039595
Natural variant1671V → F in MEN1. Ref.50
VAR_039596
Natural variant1691A → D in MEN1. Ref.20 Ref.50
VAR_005438
Natural variant1701C → R in MEN1. Ref.50 Ref.56
VAR_039597
Natural variant171 – 1733Missing in MEN1.
VAR_005439
Natural variant1731L → P in MEN1. Ref.24
VAR_039598
Natural variant1761R → Q. Ref.1 Ref.18 Ref.28 Ref.38 Ref.58 Ref.59
Corresponds to variant rs607969 [ dbSNP | Ensembl ].
VAR_005440
Natural variant1771D → Y in MEN1. Ref.38 Ref.50
VAR_005441
Natural variant1811A → P in MEN1; loss of JUND-binding. Ref.5
VAR_005442
Natural variant1841E → D in MEN1. Ref.38 Ref.61
VAR_005443
Natural variant1841E → K in MEN1. Ref.46 Ref.61
VAR_039599
Natural variant1841E → Q in MEN1. Ref.43
VAR_039600
Natural variant1861H → R in MEN1. Ref.61
VAR_039601
Natural variant1881W → R in MEN1 and parathyroid tumor. Ref.36 Ref.42
VAR_039602
Natural variant1881W → S in MEN1. Ref.18 Ref.20
VAR_005444
Natural variant1891V → E in FIHP. Ref.23
VAR_005445
Natural variant2201V → F Found in a parathyroid carcinoma sample; somatic mutation. Ref.62
VAR_064937
Natural variant2201V → M in MEN1. Ref.44 Ref.61
VAR_039603
Natural variant2281L → P in MEN1. Ref.43 Ref.50 Ref.56
VAR_005446
Natural variant2301G → R in MEN1. Ref.36
VAR_039604
Natural variant2341R → L in MEN1. Ref.41
VAR_039605
Natural variant2451V → F in MEN1. Ref.50
VAR_039606
Natural variant2461C → F in MEN1. Ref.56
VAR_039607
Natural variant2461C → R in MEN1. Ref.39
VAR_008018
Natural variant2461C → Y in MEN1. Ref.36
VAR_039608
Natural variant2471A → V in MEN1; almost complete loss of histone methylation; loss of JUND-binding; no repression of JUND transactivation. Ref.5 Ref.11
VAR_005447
Natural variant2581S → P in MEN1. Ref.36
VAR_039609
Natural variant2581S → W in parathyroid tumor. Ref.42
VAR_039610
Natural variant2601E → K in FIHP. Ref.22
VAR_005448
Natural variant2641L → R in MEN1. Ref.61
VAR_039611
Natural variant2651Q → P in FIHP. Ref.47
VAR_039612
Natural variant2661Q → QLQ in MEN1.
VAR_039613
Natural variant2691L → P in MEN1. Ref.38
VAR_005449
Natural variant2721L → P in FIHP. Ref.38
VAR_005450
Natural variant2791E → A in parathyroid tumor. Ref.42
VAR_039614
Natural variant2821P → H in FIHP. Ref.53
VAR_039615
Natural variant2861G → R in MEN1. Ref.50 Ref.56
VAR_039616
Natural variant2891A → E in MEN1. Ref.20
VAR_005451
Natural variant2891A → P in parathyroid tumor. Ref.42
VAR_039617
Natural variant2911L → P in MEN1; almost no effect on JUND-binding. Ref.5
VAR_005452
Natural variant3101G → D in FIHP. Ref.45
VAR_039618
Natural variant3141A → P in MEN1; no effect on histone methylation; almost no effect on JUND-binding. Ref.5 Ref.11
VAR_005453
Natural variant3161T → P in MEN1. Ref.50 Ref.56
VAR_039619
Natural variant3191R → P in MEN1. Ref.50
VAR_005454
Natural variant3221H → R in MEN1. Ref.43 Ref.50
VAR_039620
Natural variant3221H → Y in MEN1. Ref.50 Ref.56
VAR_039621
Natural variant3251P → L in MEN1. Ref.27
VAR_039622
Natural variant3251P → R in MEN1. Ref.61
VAR_039623
Natural variant3301A → P in MEN1. Ref.55
VAR_039624
Natural variant3421A → D in MEN1. Ref.50
Corresponds to variant rs2071312 [ dbSNP | Ensembl ].
VAR_005455
Natural variant3421A → P in MEN1. Ref.43
VAR_039625
Natural variant3461W → R in MEN1. Ref.50
VAR_005456
Natural variant3471A → P in MEN1. Ref.57
VAR_039626
Natural variant3491T → R in MEN1; almost complete loss of histone methylation; almost no effect on JUND-binding. Ref.5 Ref.11 Ref.44
VAR_005457
Natural variant3531I → N in MEN1. Ref.43
VAR_039627
Natural variant3581Y → D in MEN1. Ref.41
VAR_039628
Natural variant3601R → W in MEN1. Ref.61
VAR_039629
Natural variant3621D → H in MEN1. Ref.50
VAR_039630
Natural variant3641E → K in MEN1. Ref.31
VAR_005458
Natural variant3681Missing in MEN1. Ref.1 Ref.52
VAR_005459
Natural variant3731A → D in MEN1. Ref.50
VAR_005460
Natural variant3771I → M in MEN1. Ref.50
VAR_039631
Natural variant3781P → S in MEN1. Ref.41
VAR_039632
Natural variant3901A → V in MEN1. Ref.43
VAR_039633
Natural variant4161A → P in MEN1 and FIHP. Ref.54
VAR_039634
Natural variant4181L → R in MEN1. Ref.3
VAR_065155
Natural variant4191L → P in MEN1. Ref.3 Ref.49
VAR_039635
Natural variant4201R → P in MEN1. Ref.41
VAR_039636
Natural variant423 – 4264Missing in MEN1.
VAR_005463
Natural variant4231D → H in MEN1. Ref.60
VAR_039637
Natural variant4231D → N in MEN1. Ref.28 Ref.50 Ref.52 Ref.56
VAR_005461
Natural variant4231Missing in MEN1.
VAR_005462
Natural variant4261C → Y in MEN1. Ref.61
VAR_039638
Natural variant4281W → S in MEN1. Ref.30
VAR_039639
Natural variant4321S → R in MEN1. Ref.26
VAR_039640
Natural variant4411W → C in MEN1. Ref.61
VAR_039641
Natural variant4411W → R in MEN1; no effect on histone methylation; almost no effect on JUND-binding; modest repression of JUND transactivation. Ref.1 Ref.5 Ref.11 Ref.61
VAR_005464
Natural variant4491L → P in MEN1. Ref.35
VAR_039642
Natural variant4521F → S in MEN1; sporadic; with Zollinger-Ellison syndrome.
VAR_005465
Natural variant4761W → C in MEN1. Ref.3
VAR_065156
Natural variant5321R → C in MEN1. Ref.50
VAR_039643
Natural variant5451P → S in MEN1. Ref.56
VAR_039644
Natural variant5461T → A. Ref.1 Ref.3 Ref.4 Ref.27 Ref.28 Ref.36 Ref.38 Ref.58 Ref.63 Ref.64
Corresponds to variant rs2959656 [ dbSNP | Ensembl ].
VAR_005466
Natural variant5491P → S in MEN1. Ref.43
VAR_039645
Natural variant5571T → S in adrenal adenoma; somatic. Ref.37
VAR_039646
Natural variant5601S → N in MEN1. Ref.50
VAR_005467
Natural variant5601S → R in MEN1. Ref.50
VAR_039647

Secondary structure

..................................................................................... 615
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (Long) [UniParc].

Last modified January 11, 2011. Version 4.
Checksum: DDDF850EA5AB77B4

FASTA61568,023
        10         20         30         40         50         60 
MGLKAAQKTL FPLRSIDDVV RLFAAELGRE EPDLVLLSLV LGFVEHFLAV NRVIPTNVPE 

        70         80         90        100        110        120 
LTFQPSPAPD PPGGLTYFPV ADLSIIAALY ARFTAQIRGA VDLSLYPREG GVSSRELVKK 

       130        140        150        160        170        180 
VSDVIWNSLS RSYFKDRAHI QSLFSFITGW SPVGTKLDSS GVAFAVVGAC QALGLRDVHL 

       190        200        210        220        230        240 
ALSEDHAWVV FGPNGEQTAE VTWHGKGNED RRGQTVNAGV AERSWLYLKG SYMRCDRKME 

       250        260        270        280        290        300 
VAFMVCAINP SIDLHTDSLE LLQLQQKLLW LLYDLGHLER YPMALGNLAD LEELEPTPGR 

       310        320        330        340        350        360 
PDPLTLYHKG IASAKTYYRD EHIYPYMYLA GYHCRNRNVR EALQAWADTA TVIQDYNYCR 

       370        380        390        400        410        420 
EDEEIYKEFF EVANDVIPNL LKEAASLLEA GEERPGEQSQ GTQSQGSALQ DPECFAHLLR 

       430        440        450        460        470        480 
FYDGICKWEE GSPTPVLHVG WATFLVQSLG RFEGQVRQKV RIVSREAEAA EAEEPWGEEA 

       490        500        510        520        530        540 
REGRRRGPRR ESKPEEPPPP KKPALDKGLG TGQGAVSGPP RKPPGTVAGT ARGPEGGSTA 

       550        560        570        580        590        600 
QVPAPTASPP PEGPVLTFQS EKMKGMKELL VATKINSSAI KLQLTAQSQV QMKKQKVSTP 

       610 
SDYTLSFLKR QRKGL 

« Hide

Isoform 2 (Short) [UniParc].

Checksum: 9BF844C0302B43EF
Show »

FASTA61067,497
Isoform 3 [UniParc].

Checksum: 3A06BE24447818A3
Show »

FASTA57563,748

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
Tissue: Leukocyte.
[2]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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.
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT ALA-546.
Tissue: Placenta and Uterus.
[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.
[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.
[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.
[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.
[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.
[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.
[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.
[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.
[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.
[14]"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage."
Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J.
Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Embryonic kidney.
[15]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-599, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[16]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[17]"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.
[18]"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. expand/collapse author list , 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.
[19]"Somatic mutation of the MEN1 gene in parathyroid tumours."
Heppner C., Kester M.B., Agarwal S.K., Debelenko L.V., Emmert-Buck M.R., Guru S.C., Manickam P., Olufemi S.-E., Skarulis M.C., Doppman J.L., Alexander R.H., Kim Y.S., Saggar S.K., Lubensky I.A., Zhuang Z., Liotta L.A., Chandrasekharappa S.C., Collins F.S. expand/collapse author list , Spiegel A.M., Burns A.L., Marx S.J.
Nat. Genet. 16:375-378(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PARATHYROID ADENOMA LYS-26.
[20]"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.
[21]"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. expand/collapse author list , 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.
[22]"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 FIHP LYS-260.
[23]"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 FIHP GLU-189.
[24]"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.
[25]"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.
[26]"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.
[27]"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.
[28]"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. expand/collapse author list , 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.
[29]"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.
[30]"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.
[31]"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.
[32]"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.
[33]"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.
[34]"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.
[35]"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.
[36]"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.
[37]"MEN I gene mutations in sporadic adrenal adenomas."
Schulte K.-M., Heinze M., Mengel M., Simon D., Scheuring S., Koehrer K., Roeher H.-D.
Hum. Genet. 105:603-610(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ADRENAL ADENOMA SER-557.
[38]"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, VARIANT FIHP PRO-272, VARIANTS GLN-176 AND ALA-546.
[39]"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.
[40]"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.
[41]"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.
[42]"Screening of the MEN1 gene and discovery of germ-line and somatic mutations in apparently sporadic parathyroid tumors."
Uchino S., Noguchi S., Sato M., Yamashita H., Yamashita H., Watanabe S., Murakami T., Toda M., Ohshima A., Futata T., Mizukoshi T., Koike E., Takatsu K., Terao K., Wakiya S., Nagatomo M., Adachi M.
Cancer Res. 60:5553-5557(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PARATHYROID TUMOR ASP-161; ARG-188; TRP-258; ALA-279 AND PRO-289.
[43]"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.
[44]"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.
[45]"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 FIHP ASP-310.
[46]"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.
[47]"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 FIHP PRO-265.
[48]"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.
[49]"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.
[50]"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.
[51]"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.
[52]"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.
[53]"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 FIHP HIS-282.
[54]"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 AND FIHP VAL-158 AND PRO-416.
[55]"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.
[56]"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.
[57]"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.
[58]"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.
[59]"Unusual presentation of multiple endocrine neoplasia type 1 in a young woman with a novel mutation of the MEN1 gene."
Balogh K., Patocs A., Majnik J., Varga F., Illyes G., Hunyady L., Racz K.
J. Hum. Genet. 49:380-386(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GLN-176.
[60]"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.
[61]"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.
[62]"Identification of MEN1 and HRPT2 somatic mutations in paraffin-embedded (sporadic) parathyroid carcinomas."
Haven C.J., van Puijenbroek M., Tan M.H., Teh B.T., Fleuren G.J., van Wezel T., Morreau H.
Clin. Endocrinol. (Oxf.) 67:370-376(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PHE-220, ASSOCIATION WITH PARATHYROID CARCINOMA.
[63]"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] ALA-546, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[64]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] ALA-546, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U93236 mRNA. Translation: AAC51228.1.
U93237 Genomic DNA. Translation: AAC51229.1.
U93237 Genomic DNA. Translation: AAC51230.1.
AP001462 Genomic DNA. No translation available.
EF443091 Genomic DNA. Translation: ABQ12621.1.
EF443092 Genomic DNA. Translation: ABQ12622.1.
EF443093 Genomic DNA. Translation: ABQ12623.1.
EF443094 Genomic DNA. Translation: ABQ12624.1. Frameshift.
EF443095 Genomic DNA. Translation: ABQ12625.1.
EF443096 Genomic DNA. Translation: ABQ12626.1.
EF443097 Genomic DNA. Translation: ABQ12627.1. Frameshift.
BC002544 mRNA. Translation: AAH02544.1.
BC002664 mRNA. Translation: AAH02664.2.
RefSeqNP_000235.2. NM_000244.3.
NP_570711.1. NM_130799.2.
NP_570712.1. NM_130800.2.
NP_570713.1. NM_130801.2.
NP_570714.1. NM_130802.2.
NP_570715.1. NM_130803.2.
NP_570716.1. NM_130804.2.
XP_005274058.1. XM_005274001.2.
XP_005274059.1. XM_005274002.2.
XP_005274060.1. XM_005274003.2.
UniGeneHs.423348.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3U84X-ray2.50A/B2-615[»]
3U85X-ray3.00A2-615[»]
3U86X-ray2.84A2-615[»]
3U88X-ray3.00A/B2-615[»]
4GPQX-ray1.46A1-598[»]
4GQ3X-ray1.56A1-598[»]
4GQ4X-ray1.27A1-598[»]
4GQ6X-ray1.55A1-598[»]
4I80X-ray3.10A2-615[»]
4OG3X-ray2.01A1-598[»]
4OG4X-ray1.45A1-598[»]
4OG5X-ray1.63A1-598[»]
4OG6X-ray1.49A1-598[»]
4OG7X-ray2.08A1-598[»]
4OG8X-ray1.53A1-598[»]
ProteinModelPortalO00255.
SMRO00255. Positions 2-613.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110384. 57 interactions.
DIPDIP-24236N.
IntActO00255. 10 interactions.
MINTMINT-1543749.
STRING9606.ENSP00000337088.

Chemistry

ChEMBLCHEMBL1615381.

PTM databases

PhosphoSiteO00255.

Proteomic databases

PaxDbO00255.
PRIDEO00255.

Protocols and materials databases

DNASU4221.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000312049; ENSP00000308975; ENSG00000133895. [O00255-2]
ENST00000315422; ENSP00000323747; ENSG00000133895. [O00255-2]
ENST00000337652; ENSP00000337088; ENSG00000133895. [O00255-1]
ENST00000377313; ENSP00000366530; ENSG00000133895. [O00255-1]
ENST00000377321; ENSP00000366538; ENSG00000133895. [O00255-3]
ENST00000377326; ENSP00000366543; ENSG00000133895. [O00255-2]
ENST00000394374; ENSP00000377899; ENSG00000133895. [O00255-1]
ENST00000394376; ENSP00000377901; ENSG00000133895. [O00255-1]
ENST00000443283; ENSP00000396940; ENSG00000133895. [O00255-1]
GeneID4221.
KEGGhsa:4221.
UCSCuc001obj.3. human. [O00255-1]
uc001obl.3. human. [O00255-3]
uc001obm.3. human. [O00255-2]

Organism-specific databases

CTD4221.
GeneCardsGC11M064570.
HGNCHGNC:7010. MEN1.
HPAHPA030342.
MIM131100. phenotype.
145000. phenotype.
613733. gene.
neXtProtNX_O00255.
Orphanet99879. Familial isolated hyperparathyroidism.
99877. Familial parathyroid adenoma.
652. Multiple endocrine neoplasia type 1.
913. Zollinger-Ellison syndrome.
PharmGKBPA30746.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG67412.
HOVERGENHBG000208.
InParanoidO00255.
KOK14970.
OMAPYMYLAG.
OrthoDBEOG7QC7WH.
PhylomeDBO00255.
TreeFamTF323888.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.
REACT_116125. Disease.
REACT_71. Gene Expression.

Gene expression databases

ArrayExpressO00255.
BgeeO00255.
CleanExHS_MEN1.
HS_SCG2.
GenevestigatorO00255.

Family and domain databases

InterProIPR007747. Menin.
[Graphical view]
PANTHERPTHR12693. PTHR12693. 1 hit.
PfamPF05053. Menin. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSMEN1. human.
GeneWikiMEN1.
GenomeRNAi4221.
NextBio16643.
PROO00255.
SOURCESearch...

Entry information

Entry nameMEN1_HUMAN
AccessionPrimary (citable) accession number: O00255
Secondary accession number(s): A5HBC6 expand/collapse secondary AC list , A5HBC7, A5HBC8, A5HBC9, A5HBD0, A5HBD1, A5HBD2, O00632, Q9BUF0, Q9BUK2
Entry history
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: January 11, 2011
Last modified: April 16, 2014
This is version 138 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM