MUC1
Chr 1mucin 1, cell surface associated
Also known as: ADMCKD, ADMCKD1, ADTKD2, CA 15-3, CD227, Ca15-3, EMA, H23AG
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]
Primary Disease Associations & Inheritance
Clinical highlights
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MUC1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
A Clinical Study of TQB2029 for Injection in Subjects With Multiple Myeloma
RECRUITINGProspective Cohort Study of Pancreatic Cancer Patients Treated With Proton Beam Therapy
ENROLLING BY INVITATIONAntihypertensive Mechanisms of Minocycline in Resistant Hypertension
RECRUITINGPredictive Value of Progastrin Titer at Diagnosis and of Progastrin Kinetics During Treatment in Cancer Patients
RECRUITINGAnti-Inflammatory Diet in BRC Patients on Aromatase Inhibitors
RECRUITINGThe Role of Intestinal Microbiota Dysbiosis in the Development of Spondyloarthritis
RECRUITINGTesting a Combination of Vaccines for Cancer Prevention in Lynch Syndrome
ACTIVE NOT RECRUITINGEngineered TILs/CAR-TILs to Treat Advanced Solid Tumors
RECRUITINGMulti-CAR T Cell Therapy for Acute Myeloid Leukemia
NOT YET RECRUITINGImmun Checkpoint Washout in Patients With Invasive Ductal Breast Cancer
RECRUITINGTalimogene Laherparepvec and Nivolumab in Treating Patients With Refractory Lymphomas or Advanced or Refractory Non-melanoma Skin Cancers
ACTIVE NOT RECRUITINGThe Impact of Pectin Supplementation on Systematic Inflammation Pathway, Gut Microbiome, and Metabolic Health in Patients With Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD)
RECRUITINGExternal Resources
Links to major genomics databases and tools