MUC1

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Mucin 1, cell surface associated
PDB rendering based on 2acm.
Available structures: 2acm
Identifiers
Symbol(s) MUC1; EMA; CD227; H23AG; MAM6; PEM; PEMT; PUM
External IDs OMIM: 158340 MGI97231 HomoloGene8416
RNA expression pattern

More reference expression data

Orthologs
Human Mouse
Entrez 4582 17829
Ensembl ENSG00000185499 ENSMUSG00000042784
Uniprot P15941 Q99K60
Refseq NM_001018021 (mRNA)
NP_001018021 (protein)
NM_013605 (mRNA)
NP_038633 (protein)
Location Chr 1: 153.39 - 153.43 Mb Chr 3: 89.31 - 89.32 Mb
Pubmed search [1] [2]

Mucin 1, cell surface associated, also known as MUC1, is a human gene.

This gene is a member of the mucin family and encodes a membrane bound, glycosylated phosphoprotein. The protein is anchored to the apical surface of many epithelia by a transmembrane domain, with the degree of glycosylation varying with cell type. It also includes a 20 aa variable number tandem repeat (VNTR) domain, with the number of repeats varying from 20 to 120 in different individuals. The protein serves a protective function by binding to pathogens and also functions in a cell signaling capacity. Overexpression, aberrant intracellular localization, and changes in glycosylation of this protein have been associated with carcinomas. Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length nature of only some has been determined.[1]

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[edit] Further reading

  • Peterson JA, Scallan CD, Ceriani RL, Hamosh M (2002). "Structural and functional aspects of three major glycoproteins of the human milk fat globule membrane.". Adv. Exp. Med. Biol. 501: 179–87. PMID 11787681. 
  • Hu XF, Yang E, Li J, Xing PX (2006). "MUC1 cytoplasmic tail: a potential therapeutic target for ovarian carcinoma.". Expert Rev Anticancer Ther 6 (8): 1261–71. doi:10.1586/14737140.6.8.1261. PMID 16925492. 
  • Leroy X, Buisine MP, Leteurtre E, et al. (2007). "[MUC1 (EMA): A key molecule of carcinogenesis?]". Annales de pathologie 26 (4): 257–66. PMID 17128152. 
  • Li Y, Cozzi PJ (2007). "MUC1 is a promising therapeutic target for prostate cancer therapy.". Current cancer drug targets 7 (3): 259–71. PMID 17504123. 

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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