| Gene Symbol |
MUC1
|
| Gene Synonyms |
EMA MCD PEM PUM KL-6 MAM6 MCKD PEMT CD227 H23AG MCKD1 MUC-1 ADMCKD ADTKD2 Ca15-3 ADMCKD1 CA 15-3 MUC-1/X MUC1/ZD MUC-1/SEC |
| Gene Full Name |
mucin 1, cell surface associated |
| Gene Summary |
This gene encodes a membrane-bound protein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces. These proteins also play a role in intracellular signaling. This protein is expressed on the apical surface of epithelial cells that line the mucosal surfaces of many different tissues including lung, breast stomach and pancreas. This protein is proteolytically cleaved into alpha and beta subunits that form a heterodimeric complex. The N-terminal alpha subunit functions in cell-adhesion and the C-terminal beta subunit is involved in cell signaling. Overexpression, aberrant intracellular localization, and changes in glycosylation of this protein have been associated with carcinomas. This gene is known to contain a highly polymorphic variable number tandem repeats (VNTR) domain. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011] |
| Alternative Names |
ADMCKD ADMCKD1 Breast carcinoma associated antigen DF3 Breast carcinoma-associated antigen DF3 CA 15-3 CA15 3 CA15 3 antigen CA15.3 Cancer antigen 15-3 Carcinoma associated mucin Carcinoma-associated mucin CD 227 CD227 DF3 antigen EMA Episialin H23 antigen H23AG KL 6 KL-6 KL6 Krebs von den Lungen-6 MAM 6 MAM6 MCD MCKD MCKD1 Medullary cystic kidney disease 1 (autosomal dominant) Medullary cystic kidney disease autosomal dominant MUC 1 MUC-1 MUC-1/SEC MUC-1/X MUC1 MUC1-alpha MUC1-beta MUC1-CT MUC1-NT MUC1/ZD MUC1_HUMAN Mucin 1 Mucin 1 transmembrane Mucin 1 cell surface associated Mucin-1 subunit beta Peanut reactive urinary mucin Peanut-reactive urinary mucin PEM PEMT Polymorphic epithelial mucin PUM Tumor associated epithelial membrane antigen Tumor associated epithelial mucin Tumor associated mucin Tumor-associated epithelial membrane antigen Tumor-associated mucin |
| Molecular Weight(MW) |
122 kDa |
| Cellular Localization |
Apical cell membrane>Single-pass type I membrane protein. |