MUC1: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

MUC1

Aliases

ADMCKD, ADMCKD1, CA 15-3, CD227, EMA, H23AG, KL-6, MAM6, MCD, MCKD, MCKD1, MUC-1, MUC-1/SEC, MUC-1/X, MUC1/ZD, PEM, PEMT, PUM

Entrez Gene ID

4582

Gene Name

Mucin 1, cell surface associated

Chromosomal Location

1q22

HGNC ID

HGNC:7508

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]

e!Ensembl

Gene	ENSG00000185499
Transcript	ENST00000620103, ENST00000462317, ENST00000485118, ENST00000368392, ENST00000438413, ENST00000610468, ENST00000368393, ENST00000368389, ENST00000368396, ENST00000343256, ENST00000342482, ENST00000498431, ENST00000467134, ENST00000471283, ENST00000368398, ENST00000368390, ENST00000337604, ENST00000610359, ENST00000338684, ENST00000615517, ENST00000612778, ENST00000611577, ENST00000457295, ENST00000614519, ENST00000462215, ENST00000611571
Protein	ENSP00000481231, ENSP00000479471, ENSP00000478068, ENSP00000357377, ENSP00000389098, ENSP00000482688, ENSP00000357378, ENSP00000357374, ENSP00000357381, ENSP00000339690, ENSP00000342814, ENSP00000483128, ENSP00000484006, ENSP00000484730, ENSP00000357383, ENSP00000357375, ENSP00000338983, ENSP00000483482, ENSP00000343482, ENSP00000483473, ENSP00000484824, ENSP00000483581, ENSP00000388172, ENSP00000482988, ENSP00000480335, ENSP00000480333

Gene Ontology (GO)

Show/Hide all(19 )

GO ID	Ontology	Function	Evidence	Reference
GO:0006977	Biological process	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	IDA	15710329
GO:0006978	Biological process	DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	IDA	15710329
GO:0010944	Biological process	Negative regulation of transcription by competitive promoter binding	IDA	15710329
GO:0033629	Biological process	Negative regulation of cell adhesion mediated by integrin	IDA	7698991
GO:0036003	Biological process	Positive regulation of transcription from RNA polymerase II promoter in response to stress	IDA	15710329
GO:0043618	Biological process	Regulation of transcription from RNA polymerase II promoter in response to stress	IDA	15710329
GO:0090240	Biological process	Positive regulation of histone H4 acetylation	IDA	15710329
GO:1902166	Biological process	Negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IDA	15710329
GO:0000790	Cellular component	Nuclear chromatin	IDA	15710329
GO:0005615	Cellular component	Extracellular space	HDA	16502470
GO:0005887	Cellular component	Integral component of plasma membrane	TAS	1697589
GO:0016324	Cellular component	Apical plasma membrane	IBA	21873635
GO:0031982	Cellular component	Vesicle	HDA	19190083
GO:0070062	Cellular component	Extracellular exosome	HDA	19056867, 19199708, 23533145
GO:0070062	Cellular component	Extracellular exosome	IDA	15326289
GO:0000978	Molecular function	RNA polymerase II proximal promoter sequence-specific DNA binding	IDA	15710329
GO:0002039	Molecular function	P53 binding	IPI	15710329
GO:0003712	Molecular function	Transcription coregulator activity	IDA	15710329
GO:0005515	Molecular function	Protein binding	IPI	16888623, 21258405, 21798038, 22905162, 22962849, 24043631, 24658140

Protein Information

Protein Name

Mucin-1, H23 antigen, breast carcinoma-associated antigen DF3, cancer antigen 15-3, carcinoma-associated mucin, episialin, krebs von den Lungen-6, mucin 1, transmembrane, peanut-reactive urinary mucin, polymorphic epithelial mucin, tumor associated epithelial mucin, tumor-associated epithelial membrane antigen

Function

The alpha subunit has cell adhesive properties. Can act both as an adhesion and an anti-adhesion protein. May provide a protective layer on epithelial cells against bacterial and enzyme attack.; The beta subunit contains a C-terminal domain which is involved in cell signaling, through phosphorylations and protein-protein interactions. Modulates signaling in ERK, SRC and NF-kappa-B pathways. In activated T-cells, influences directly or indirectly the Ras/MAPK pathway. Promotes tumor progression. Regulates TP53-mediated transcription and determines cell fate in the genotoxic stress response. Binds, together with KLF4, the PE21 promoter element of TP53 and represses TP53 activity

UniProt

P15941