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Gene: MUC1 (mucin 1, cell surface associated) Homo sapiens
Symbol: MUC1
Name: mucin 1, cell surface associated
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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ADMCKD; ADMCKD1; breast carcinoma-associated antigen DF3; CA 15-3; cancer antigen 15-3; carcinoma-associated mucin; CD227; DF3 antigen; EMA; episialin; H23 antigen; H23AG; KL-6; krebs von den Lungen-6; MAM6; MCD; MCKD; MCKD1; medullary cystic kidney disease 1 (autosomal dominant); Medullary cystic kidney disease, autosomal dominant; MUC-1; MUC-1/SEC; MUC-1/X; MUC1/ZD; mucin 1; mucin 1, transmembrane; mucin-1; peanut-reactive urinary mucin; PEM; PEMT; polymorphic epithelial mucin; PUM; tumor associated epithelial mucin; tumor-associated epithelial membrane antigen; tumor-associated mucin
Mus musculus (house mouse) : Muc1 (mucin 1, transmembrane)  MGI  Alliance
Rattus norvegicus (Norway rat) : Muc1 (mucin 1, cell surface associated)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Muc1 (mucin 1, cell surface associated)
Pan paniscus (bonobo/pygmy chimpanzee) : MUC1 (mucin 1, cell surface associated)
Canis lupus familiaris (dog) : MUC1 (mucin 1, cell surface associated)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Muc1 (mucin 1, cell surface associated)
Sus scrofa (pig) : MUC1 (mucin 1, cell surface associated)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh381155,185,824 - 155,192,915 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371155,158,300 - 155,162,768 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361153,424,924 - 153,429,324 (-)NCBINCBI36hg18NCBI36
Build 341151,971,671 - 151,975,732NCBI
Celera1128,229,565 - 128,235,983 (-)NCBI
Cytogenetic Map1q22NCBI
HuRef1126,521,570 - 126,525,810 (-)NCBIHuRef
CHM1_11156,554,155 - 156,558,213 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on MUC1
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 737252
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2019-10-08
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.