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Q10571

- MN1_HUMAN

UniProt

Q10571 - MN1_HUMAN

Protein

Probable tumor suppressor protein MN1

Gene

MN1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 110 (01 Oct 2014)
      Sequence version 3 (25 Nov 2008)
      Previous versions | rss
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    Functioni

    May play a role in tumor suppression.

    GO - Biological processi

    1. intramembranous ossification Source: Ensembl

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Probable tumor suppressor protein MN1
    Gene namesi
    Name:MN1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 22

    Organism-specific databases

    HGNCiHGNC:7180. MN1.

    Pathology & Biotechi

    Involvement in diseasei

    A chromosomal aberration involving MN1 may be a cause of acute myeloid leukemia (AML). Translocation t(12;22)(p13;q11) with TEL.
    Defects in MN1 involved in the development of meningiomas, slowly growing benign tumors derived from the arachnoidal cap cells of the leptomeninges, the soft coverings of the brain and spinal cord. Meningiomas are believed to be the most common primary tumors of the central nervous system in man.

    Keywords - Diseasei

    Tumor suppressor

    Organism-specific databases

    MIMi607174. phenotype.
    Orphaneti263662. Familial multiple meningioma.
    PharmGKBiPA30893.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 13201320Probable tumor suppressor protein MN1PRO_0000096521Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1 – 11N-acetylmethionine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    PaxDbiQ10571.
    PRIDEiQ10571.

    PTM databases

    PhosphoSiteiQ10571.

    Expressioni

    Tissue specificityi

    Ubiquitously expressed. Highest levels in skeletal muscle.

    Gene expression databases

    ArrayExpressiQ10571.
    BgeeiQ10571.
    CleanExiHS_MN1.
    GenevestigatoriQ10571.

    Organism-specific databases

    HPAiHPA003072.

    Interactioni

    Protein-protein interaction databases

    BioGridi110473. 1 interaction.
    IntActiQ10571. 1 interaction.
    MINTiMINT-7970847.
    STRINGi9606.ENSP00000304956.

    Structurei

    3D structure databases

    ProteinModelPortaliQ10571.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi294 – 30815Poly-GlnAdd
    BLAST
    Compositional biasi523 – 55028Poly-GlnAdd
    BLAST

    Phylogenomic databases

    eggNOGiNOG40247.
    HOVERGENiHBG106874.
    InParanoidiQ10571.
    OMAiMAEQHAT.
    OrthoDBiEOG7X0VGB.
    PhylomeDBiQ10571.
    TreeFamiTF331780.

    Sequencei

    Sequence statusi: Complete.

    Q10571-1 [UniParc]FASTAAdd to Basket

    « Hide

    MFGLDQFEPQ VNSRNAGQGE RNFNETGLSM NTHFKAPAFH TGGPPGPVDP     50
    AMSALGEPPI LGMNMEPYGF HARGHSELHA GGLQAQPVHG FFGGQQPHHG 100
    HPGSHHPHQH HPHFGGNFGG PDPGASCLHG GRLLGYGGAA GGLGSQPPFA 150
    EGYEHMAESQ GPESFGPQRP GNLPDFHSSG ASSHAVPAPC LPLDQSPNRA 200
    ASFHGLPSSS GSDSHSLEPR RVTNQGAVDS LEYNYPGEAP SGHFDMFSPS 250
    DSEGQLPHYA AGRQVPGGAF PGASAMPRAA GMVGLSKMHA QPPQQQPQQQ 300
    QQPQQQQQQH GVFFERFSGA RKMPVGLEPS VGSRHPLMQP PQQAPPPPQQ 350
    QPPQQPPQQQ PPPPPGLLVR QNSCPPALPR PQQGEAGTPS GGLQDGGPML 400
    PSQHAQFEYP IHRLENRSMH PYSEPVFSMQ HPPPQQAPNQ RLQHFDAPPY 450
    MNVAKRPRFD FPGSAGVDRC ASWNGSMHNG ALDNHLSPSA YPGLPGEFTP 500
    PVPDSFPSGP PLQHPAPDHQ SLQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ 550
    RQNAALMIKQ MASRNQQQRL RQPNLAQLGH PGDVGQGGLV HGGPVGGLAQ 600
    PNFEREGGST GAGRLGTFEQ QAPHLAQESA WFSGPHPPPG DLLPRRMGGS 650
    GLPADCGPHD PSLAPPPPPG GSGVLFRGPL QEPMRMPGEG HVPALPSPGL 700
    QFGGSLGGLG QLQSPGAGVG LPSAASERRP PPPDFATSAL GGQPGFPFGA 750
    AGRQSTPHSG PGVNSPPSAG GGGGSSGGGG GGGAYPPQPD FQPSQRTSAS 800
    KLGALSLGSF NKPSSKDNLF GQSCLAALST ACQNMIASLG APNLNVTFNK 850
    KNPPEGKRKL SQNETDGAAV AGNPGSDYFP GGTAPGAPGP GGPSGTSSSG 900
    SKASGPPNPP AQGDGTSLSP NYTLESTSGN DGKPVSGGGG RGRGRRKRDS 950
    GHVSPGTFFD KYSAAPDSGG APGVSPGQQQ ASGAAVGGSS AGETRGAPTP 1000
    HEKALTSPSW GKGAELLLGD QPDLIGSLDG GAKSDSSSPN VGEFASDEVS 1050
    TSYANEDEVS SSSDNPQALV KASRSPLVTG SPKLPPRGVG AGEHGPKAPP 1100
    PALGLGIMSN STSTPDSYGG GGGPGHPGTP GLEQVRTPTS SSGAPPPDEI 1150
    HPLEILQAQI QLQRQQFSIS EDQPLGLKGG KKGECAVGAS GAQNGDSELG 1200
    SCCSEAVKSA MSTIDLDSLM AEHSAAWYMP ADKALVDSAD DDKTLAPWEK 1250
    AKPQNPNSKE AHDLPANKAS ASQPGSHLQC LSVHCTDDVG DAKARASVPT 1300
    WRSLHSDISN RFGTFVAALT 1320
    Length:1,320
    Mass (Da):136,001
    Last modified:November 25, 2008 - v3
    Checksum:i41CFFE16E5688B1C
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti382 – 3821Q → H.
    Corresponds to variant rs45589338 [ dbSNP | Ensembl ].
    VAR_047533

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X82209 mRNA. Translation: CAA57693.2.
    AL031591 Genomic DNA. No translation available.
    FO393416 Genomic DNA. No translation available.
    CH471095 Genomic DNA. Translation: EAW59741.1.
    Z70218 mRNA. Translation: CAA94179.1.
    CCDSiCCDS42998.1.
    RefSeqiNP_002421.3. NM_002430.2.
    UniGeneiHs.268515.

    Genome annotation databases

    EnsembliENST00000302326; ENSP00000304956; ENSG00000169184.
    GeneIDi4330.
    KEGGihsa:4330.
    UCSCiuc003adj.3. human.

    Polymorphism databases

    DMDMi215274133.

    Keywords - Coding sequence diversityi

    Chromosomal rearrangement, Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X82209 mRNA. Translation: CAA57693.2 .
    AL031591 Genomic DNA. No translation available.
    FO393416 Genomic DNA. No translation available.
    CH471095 Genomic DNA. Translation: EAW59741.1 .
    Z70218 mRNA. Translation: CAA94179.1 .
    CCDSi CCDS42998.1.
    RefSeqi NP_002421.3. NM_002430.2.
    UniGenei Hs.268515.

    3D structure databases

    ProteinModelPortali Q10571.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110473. 1 interaction.
    IntActi Q10571. 1 interaction.
    MINTi MINT-7970847.
    STRINGi 9606.ENSP00000304956.

    PTM databases

    PhosphoSitei Q10571.

    Polymorphism databases

    DMDMi 215274133.

    Proteomic databases

    PaxDbi Q10571.
    PRIDEi Q10571.

    Protocols and materials databases

    DNASUi 4330.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000302326 ; ENSP00000304956 ; ENSG00000169184 .
    GeneIDi 4330.
    KEGGi hsa:4330.
    UCSCi uc003adj.3. human.

    Organism-specific databases

    CTDi 4330.
    GeneCardsi GC22M028144.
    HGNCi HGNC:7180. MN1.
    HPAi HPA003072.
    MIMi 156100. gene.
    607174. phenotype.
    neXtProti NX_Q10571.
    Orphaneti 263662. Familial multiple meningioma.
    PharmGKBi PA30893.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG40247.
    HOVERGENi HBG106874.
    InParanoidi Q10571.
    OMAi MAEQHAT.
    OrthoDBi EOG7X0VGB.
    PhylomeDBi Q10571.
    TreeFami TF331780.

    Miscellaneous databases

    GeneWikii MN1_(gene).
    GenomeRNAii 4330.
    NextBioi 17039.
    PROi Q10571.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q10571.
    Bgeei Q10571.
    CleanExi HS_MN1.
    Genevestigatori Q10571.

    Family and domain databases

    ProtoNeti Search...

    Publicationsi

    1. "Cloning and characterization of MN1, a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma."
      Deprez R.H.L., Riegman P.H.J., Groen N.A., Warringa U.L., van Biezen N.A., Molijn A.C., Bootsma D., de Jong P.J., Menon A.G., Kley N.A., Seizenger B.R., Zwarthoff E.C.
      Oncogene 10:1521-1528(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Brain.
    2. Riegmann P.H.J.
      Submitted (AUG-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: SEQUENCE REVISION.
    3. "The DNA sequence of human chromosome 22."
      Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
      , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
      Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The characteristics of different types of mRNA expressed in the human brain."
      Dmitrenko V.V., Garifulin O.M., Shostak E.A., Smikodub A.I., Kavsan V.M.
      Cyt. Genet. 30:41-47(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1305-1320.
      Tissue: Brain.
    6. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiMN1_HUMAN
    AccessioniPrimary (citable) accession number: Q10571
    Secondary accession number(s): A9Z1V9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: November 25, 2008
    Last modified: October 1, 2014
    This is version 110 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 22
      Human chromosome 22: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

    External Data

    Dasty 3