MUC1 Chromosome 1
Mucin 1, cell surface associated
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What This Gene Does
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]
Gene Info
Gene Group
"CD molecules|Mucins"
Locus Type
gene with protein product
Location
1q22
Ensembl
ENSG00000185499
Associated Conditions (6)
Tubulointerstitial kidney disease
autosomal dominant
2
Inborn genetic diseases
MUC1-related disorder
Kidney failure
Key Variants
RS375090196
Conflicting classifications of pathogenicity
Tubulointerstitial kidney disease, autosomal dominant, 2
Health Risk
RS758786611
Conflicting classifications of pathogenicity
MUC1-related disorder, Inborn genetic diseases, Kidney failure
Health Risk
RS2526888534
Likely pathogenic
Tubulointerstitial kidney disease, autosomal dominant, 2
Health Risk
RS2527044406
Likely pathogenic
Tubulointerstitial kidney disease, autosomal dominant, 2
Health Risk
RS2527049898
Likely pathogenic
Tubulointerstitial kidney disease, autosomal dominant, 2
Health Risk
RS1557836992
Pathogenic
Health Risk
RS1667142761
Pathogenic
Tubulointerstitial kidney disease, autosomal dominant, 2
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS375090196 | Health Risk | Conflicting classifications of pathogenicity | Tubulointerstitial kidney disease, autosomal dominant, 2 |
| RS758786611 | Health Risk | Conflicting classifications of pathogenicity | MUC1-related disorder, Inborn genetic diseases, Kidney failure |
| RS2526888534 | Health Risk | Likely pathogenic | Tubulointerstitial kidney disease, autosomal dominant, 2 |
| RS2527044406 | Health Risk | Likely pathogenic | Tubulointerstitial kidney disease, autosomal dominant, 2 |
| RS2527049898 | Health Risk | Likely pathogenic | Tubulointerstitial kidney disease, autosomal dominant, 2 |
| RS1557836992 | Health Risk | Pathogenic | — |
| RS1667142761 | Health Risk | Pathogenic | Tubulointerstitial kidney disease, autosomal dominant, 2 |