mucin 1, cell surface associated

Symbol

MUC1 (may also be known as: None)

Organism

Human

Description

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]

Orthologs

SymbolSpecies
CELE_Y46B2A.3 Caenorhabditis elegans
Muc68E Drosophila melanogaster

Links to external resources

Changes associated with this gene

Identifier Name Type Tissues Organism Gene Data Actions
DAA3276 Gene expression of MUC1 decreases with age Molecular skin Human MUC1 —

GO Terms

GO IDGO TermGO Category
GO:0006916 anti-apoptosis biological_process
GO:0006977 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest biological_process
GO:0006978 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator biological_process
GO:0010944 negative regulation of transcription by competitive promoter binding biological_process
GO:0016266 O-glycan processing biological_process
GO:0036003 positive regulation of transcription from RNA polymerase II promoter in response to stress biological_process
GO:0043618 regulation of transcription from RNA polymerase II promoter in response to stress biological_process
GO:0043687 post-translational protein modification biological_process
GO:0044267 cellular protein metabolic process biological_process
GO:0090240 positive regulation of histone H4 acetylation biological_process
GO:0000790 nuclear chromatin cellular_component
GO:0005576 extracellular region cellular_component
GO:0005634 nucleus cellular_component
GO:0005737 cytoplasm cellular_component
GO:0005796 Golgi lumen cellular_component
GO:0005886 plasma membrane cellular_component
GO:0005887 integral to plasma membrane cellular_component
GO:0009986 cell surface cellular_component
GO:0016324 apical plasma membrane cellular_component
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding molecular_function
GO:0002039 p53 binding molecular_function
GO:0003712 transcription cofactor activity molecular_function
GO:0005515 protein binding molecular_function