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Description for Protein MUC1

mucin 1, cell surface associated
30 total interacting proteins; 14 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene is a member of the mucin family and encodes a membrane bound, glycosylated phosphoprotein. The protein is anchored to the apical surface of many epithelia by a transmembrane domain, with the degree of glycosylation varying with cell type. It also includes a 20 aa variable number tandem repeat (VNTR) domain, with the number of repeats varying from 20 to 120 in different individuals. The protein serves a protective function by binding to pathogens and also functions in a cell signaling capacity. Overexpression, aberrant intracellular localization, and changes in glycosylation of this protein have been associated with carcinomas. Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length nature of only some has been determined. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • SEA: Domain found in sea urchin sperm protein, enterokinase, agrin
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K06568
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    MAM6; Mucin; MUC1/ZD; MUC-1/X; MUC-1/Y; Epithelial mucin tandem repeat sequence; Tumor mucin antigen; MUC-1/Z; MUC1 mucin; MUC1 mucin isoform 2 precursor; MUC1 mucin isoform 3 precursor; MUC1 mucin isoform 1 precursor; Mucin 1 isoform 5 precursor; Mucin 1 isoform 6 precursor; Mucin 1 isoform 7 precursor; Mucin 1 isoform 8 precursor; Mucin-1 precursor; CD227; Tumor associated epithelial membrane antigen; PEM; PEMT; Episialin; Carcinoma associated mucin; EMA; H23AG; Peanut reactive urinary mucin; PUM; Breast carcinoma associated antigen DF3; Mucin 1 urinary; Mucin tumor associated epithelial; Tumor associated mucin; DF3 antigen; H23 antigen; Epithelial membrane antigen
    Approved Symbol:
    MUC1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 70
    Human (de-) phosphorylation sites: 70; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

    None Available
    		Predicted Transmembrane Domains:
    01152_10(0)
  • Isoform 9 : 0
  • Isoform 8 : 0
  • Isoform 7 : 2
  • Isoform 6 : 0
  • Isoform 5 : 2
  • Isoform 4 : 1
  • Isoform 2 : 2
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 01152 Entrez Gene ID: 4582 OMIM ID: 158340 Swissprot Accession: Q7Z538; P15941; Q0VAP5;