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Mucin 1, cell surface associated

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]


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Medullary cystic kidney disease 1
Autosomal dominant tubulointerstitial kidney disease (ADTKD)



Kiser RL et al. (2004) Medullary cystic kidney disease type 1 in a large Native-American kindred.

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Pratt WS et al. (1996) Two additional polymorphisms within the hypervariable MUC1 gene: association of alleles either side of the VNTR region.

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Kingsmore SF et al. (1995) Genetic mapping of the tumor-associated mucin 1 gene on mouse chromosome 3.

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Karlsson S et al. (1983) A genetic polymorphism of a human urinary mucin.

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Swallow DM et al. () The human tumour-associated epithelial mucins are coded by an expressed hypervariable gene locus PUM.

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Swallow DM et al. (1987) The hypervariable gene locus PUM, which codes for the tumour associated epithelial mucins, is located on chromosome 1, within the region 1q21-24.

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Middleton-Price H et al. (1988) Close linkage of PUM and SPTA within chromosome band 1q21.

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Swallow DM et al. (1988) Linkage between the expressed hypervariable gene locus PUM and the gene coding for the Duffy blood group FY.

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Lan MS et al. (1990) Cloning and sequencing of a human pancreatic tumor mucin cDNA.

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Ligtenberg MJ et al. (1990) Episialin, a carcinoma-associated mucin, is generated by a polymorphic gene encoding splice variants with alternative amino termini.

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Ligtenberg MJ et al. (1991) A single nucleotide polymorphism in an exon dictates allele dependent differential splicing of episialin mRNA.

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Ramasamy S et al. (2007) The MUC1 and galectin-3 oncoproteins function in a microRNA-dependent regulatory loop.

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McAuley JL et al. (2007) MUC1 cell surface mucin is a critical element of the mucosal barrier to infection.

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Moehle C et. al. (2006) Aberrant intestinal expression and allelic variants of mucin genes associated with inflammatory bowel disease.

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Lu W et al. (2006) Cutting edge: enhanced pulmonary clearance of Pseudomonas aeruginosa by Muc1 knockout mice.

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Sood R et al. (2006) Gene expression patterns in human placenta.

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Kirby A et al. (2013) Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.

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DeSouza MM et al. (1999) MUC1/episialin: a critical barrier in the female reproductive tract.

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Silva F et al. (2001) MUC1 gene polymorphism in the gastric carcinogenesis pathway.

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Yin L et al. (2003) Human MUC1 carcinoma antigen regulates intracellular oxidant levels and the apoptotic response to oxidative stress.

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Fowler JC et al. (2003) Hypervariability of the membrane-associated mucin and cancer marker MUC1.

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Li Y et al. (2003) Human DF3/MUC1 carcinoma-associated protein functions as an oncogene.

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Levi E et al. (2004) MUC1 and MUC2 in pancreatic neoplasia.

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Rahn JJ et al. (2004) MUC1 initiates a calcium signal after ligation by intercellular adhesion molecule-1.

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Levitin F et al. (2005) A novel protein derived from the MUC1 gene by alternative splicing and frameshifting.

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Wei X et al. (2006) MUC1 oncoprotein stabilizes and activates estrogen receptor alpha.

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Gendler SJ et al. (1990) Molecular cloning and expression of human tumor-associated polymorphic epithelial mucin.

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Orphanet article

Orphanet ID 330730 external link

NCBI article

NCBI 4582 external link

OMIM.ORG article

Omim 158340 external link

Wikipedia article

Wikipedia EN (MUC1) external link
Update: Aug. 14, 2020
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