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MUC1 (NM_001204287) - mucin 1, cell surface associated

Mucin-1 Isoform 11 Precursor

Mutations Visualisation

Protein summary

This is an alternative isoform of MUC1 protein. View all 20 isoforms
MUC1: mucin-1 isoform 11 precursor
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].

Strand
-
Chromosome
1
Protein
282 residues
All mutations
44
PTM sites
17
CDS
155,158,610 - 155,162,634
Transcription
155,158,299 - 155,162,706
31.21% of sequence is predicted to be disordered

External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 4582
UniProt