Version: 8.0.0Date: Tue Jan 28 2025
Gene
MUC1
- Species
- Homo sapiens
- Symbol
- MUC1
- Name
- mucin 1, cell surface associated
- Synonyms
- ADMCKD
- ADMCKD1
- Biotype
- protein coding gene
- Automated Description
- Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; p53 binding activity; and transcription coregulator activity. Involved in several processes, including DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator; and regulation of DNA-templated transcription. Located in chromatin; extracellular exosome; and plasma membrane. Implicated in several diseases, including biliary tract benign neoplasm; dry eye syndrome; familial juvenile hyperuricemic nephropathy; mucinous adenocarcinoma; and pancreatic cancer (multiple). Biomarker of several diseases, including allergic rhinitis; carcinoma (multiple); common bile duct neoplasm; cystic fibrosis; and lung disease (multiple).
- RGD 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR10006
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr1:155185824...155192916 - (7.09 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.