C1GALT1C1

GENE INFORMATION

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Gene name

C1GALT1C1 (HGNC Symbol)

Synonyms

C1GALT2, COSMC

Description

C1GALT1-specific chaperone 1 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

X

Cytoband

q24

Chromosome location (bp)

119759648 - 119764005

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000171155 (version 75.37)

Entrez gene

29071

UniProt

Q96EU7 (UniProt - Evidence at protein level)

neXtProt

NX_Q96EU7

Antibodypedia

C1GALT1C1 antibodies
 

PROTEIN VIEW

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C1GALT1C1-001
 
C1GALT1C1-002
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

C1GALT1C1-001 ENSP00000304364
ENST00000304661
Q96EU7
Show all »
Show » Show » 318 36.4 No 0
C1GALT1C1-002 ENSP00000360363
ENST00000371313
Q96EU7
Show all »
Show » Show » 318 36.4 No 0