MUC1
MUC1 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]
Details
| Type | Protein Coding |
| Official Symbol | MUC1 |
| Official Name | mucin 1, cell surface associated [Source:HGNC Symbol;Acc:HGNC:7508] |
| Ensembl ID | ENSG00000185499 |
| Bio databases IDs | |
| Aliases | mucin 1, cell surface associated, epithelial membrane antigen |
| Synonyms | ADMCKD,ADMCKD1,ADTKD2,CA 15-3,CD227,EMA,EMA1,Episialin,H23AG,KL-6,MAM6,MCD,MCKD,MCKD1,mucin,Mucin1,mucin 1, cell surface associated,Mucin 1 (episialin),Mucin-1 subunit beta,Mucin-1 subunit β,mucin 1, transmembrane,PANCREATIC MUCIN,PEM,PEMT,PUM |
| Species | Human, homo_sapiens |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular domain
- nucleic acid binding
- ectodomain
- SEA domain
- transcription cofactor
- p53 binding
- protein binding
- sequence-specific DNA binding
- tandem repeat
- serine-rich region
- cytoplasmic domain
- double-stranded DNA binding
- transmembrane domain
- cytosolic tail domain
- transmembrane receptor
Pathways
Biological processes and signaling networks where the MUC1 gene plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
- AQP1
- BCR
- HHATL
- IKBKB
- HLA-A
- CEBPB
- APP
- SOS1
- CTNND1
- IKBKG
disease
- neoplasia
- hepatocellular carcinoma
- liver cancer
- epithelial cancer
- cancer
- osteoarthritis
- digestive system cancer
- abdominal cancer
- metastasis
- lung adenocarcinoma formation
regulated by
- GSK3B
- lipopolysaccharide
- IFNG
- PPARG
- fucose
- EGF
- PTEN
- HIF1A
- cigarette smoke
- IL1B
regulates
- Ca2+
- EGFR
- CCND1
- MYC
- MAPK14
- TNF
- IL6
- SOD2
- reactive oxygen species
- HIF1A
role in cell
- phosphorylation in
- expression in
- invasion by
- transcription in
- growth
- cell death
- apoptosis
- activation in
- quantity
- transmembrane potential
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- detergent resistant lipid raft fraction
- Golgi lumen
- extracellular vesicles
- Cytoplasm
- cell surface
- Extracellular Space
- apical compartment
- membrane surface
- cellular membrane
- Nucleus
- vesicles
- Golgi Apparatus
- Mitochondria
- cell-cell contacts
- cytosol
- apical cell surfaces
- apical membrane
- perinuclear space
- peripheral vesicles
- chromatin
- exosomes
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the MUC1 gene, providing context for its role in the cell.
BIOLOGICAL PROCESS
Functions and activities the gene product is involved in
- negative regulation of cell adhesion mediated by integrin
- DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest
- negative regulation of transcription by competitive promoter binding
- DNA damage response, signal transduction by p53 class mediator
- positive regulation of transcription from RNA polymerase II promoter
CELLULAR COMPONENT
Where in the cell the gene product is active
- nucleus
- extracellular space
- extracellular vesicular exosome
- vesicle
- Golgi lumen
- chromatin
- apical plasma membrane
- plasma membrane
MOLECULAR FUNCTION
What the gene product does at the molecular level
- p53 binding
- protein binding
- transcription cofactor activity
- RNA polymerase II core promoter proximal region sequence-specific DNA binding