MUC1

Chr 1q22

mucin 1, cell surface associated

Aliases:: CD227, PEM, ADMCKD, ADMCKD1, MCKD

OMIM: 158340 ↗NCBI: 4582 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

MUC1 · P15941

v62025-08-01

Predicted Aligned Error matrix for MUC1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

47.4/ 100

Very low

1,255 residues

Confidence breakdown

Very high(≥ 90)2%
Confident(70–90)9%
Low(50–70)19%
Very low(< 50)71%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Tubulointerstitial kidney disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained kidney failure in young people
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
CAKUT
Cystic kidney disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare multisystem ciliopathy disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Renal ciliopathies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

tubulointerstitial kidney disease, autosomal dominant, 2
0.68
autosomal dominant medullary cystic kidney disease with or without hyperuricemia
0.57
non-small cell lung carcinoma
0.42
gout
0.42
breast cancer
0.37
dentures
0.36
Abnormality of the skeletal system
0.34
COVID-19
0.34
bipolar disorder
0.33
inflammatory bowel disease
0.32

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Mucin-1

The alpha subunit has cell adhesive properties. Can act both as an adhesion and an anti-adhesion protein. May provide a protective layer on epithelial cells against bacterial and enzyme attack