C1GALT1C1
Gene Information
- Official Symbol: C1GALT1C1
- Official Name: C1GALT1 specific chaperone 1
- Aliases and Previous Symbols: N/A
- Entrez ID: 29071
- UniProt: Q96EU7
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez 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]. Sequence Note: This RefSeq record represents the C1GALT1C1*001.1.1 allele.
- UniProt Summary: 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). {ECO:0000269|PubMed:12464682}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 13830
- Expression level (log2 read counts): 4.28
C1GALT1C1 Expression in NALM6 Cells: 4.28
