C1GALT1C1

This gene encodes a type II transmembrane protein that is similar to the core 1 beta1,3-galactosyltransferase 1, which catalyzes the synthesis of the core-1 structure, also known as Thomsen-Friedenreich antigen, on O-linked glycans. This gene product lacks the galactosyltransferase activity itself, but instead acts as a molecular chaperone required for the folding, stability and full activity of the core 1 beta1,3-galactosyltransferase 1. Mutations in this gene have been associated with Tn syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2009]

Description

C1GALT1 specific chaperone 1

Tissue specificity

Low tissue specificity

Subcell location

Vesicles

Predicted location

Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

X (120625674 - 120630054)

Ensembl ID

ENSG00000171155  (ver. 103.38)

Orthologs

Mouse C1galt1c1: ENSMUSG00000048970

UniProt

Q96EU7

neXtProt

NX_Q96EU7

Human splice variants
Mouse splice variants

Protein structure