C1GALT1C1

Chr Xq24

C1GALT1 specific chaperone 1

Aliases:: COSMC, C1GALT2
MANE:: ENST00000304661.6

OMIM: 300611 ↗NCBI: 29071 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

C1GALT1C1 · Q96EU7

v62025-08-01

Predicted Aligned Error matrix for C1GALT1C1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

87.2/ 100

Confident

318 residues

Confidence breakdown

Very high(≥ 90)62%
Confident(70–90)25%
Low(50–70)10%
Very low(< 50)4%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Fetal anomalies
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital disorders of glycosylation
Other - please specify in evaluation comments
Likely inborn error of metabolism
Other - please specify in evaluation comments
Undiagnosed metabolic disorders
Other - please specifiy in evaluation comments

Disease associations (Open Targets)

hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature
0.63
neurodegenerative disease
0.46
carcinoma
0.37
atypical hemolytic-uremic syndrome
0.34
Abnormal protein O-linked glycosylation
0.27
breast cancer
0.10
colorectal carcinoma
0.09
breast carcinoma
0.09
cancer
0.06
anti-neutrophil antibody associated vasculitis
0.06

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

Protein function (UniProt)

C1GALT1-specific chaperone 1

Probable chaperone required for the generation of 1 O-glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins. Probably acts as a specific molecular chaperone assisting the folding/stability of core 1 beta-3-galactosyltransferase (C1GALT1)