Recombinant Human C1GALT1-specific chaperone 1 (C1GALT1C1), Truncated

Uniprot Id

Q96EU7

Target Species

Human

Target Name

C1GALT1C1

Target Full Name

C1GALT1-specific chaperone 1

Target Function

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).

Target Involvement

Tn polyagglutination syndrome (TNPS)

Target Subcellular Location

Membrane; Single-pass type II membrane protein.

Target Protein Families

Glycosyltransferase 31 family, Beta3-Gal-T subfamily

Target Tissue Specificity

Ubiquitously expressed. Abundantly expressed in salivary gland, stomach, small intestine, kidney, and testis and at intermediate levels in whole brain, cerebellum, spinal cord, thymus, spleen, trachea, lung, pancreas, ovary, and uterus.

Target Synonyms

HSPC067; 3-galactosyltransferase 2; Beta 1,3 galactosyltransferase 2 ; Beta1,3 galactosyltransferase 2 ; C1Gal T2 ; C1Gal-T2; C1GALT1 specific chaperone 1 ; C1GALT1-specific chaperone 1; C1galt1c1; C1GalT2; C1GLC_HUMAN; C38H2 L1; C38H2 like protein 1; C38H2-L1; C38H2-like protein 1; C38H2L1; Core 1 beta1; Core 1 beta3 galactosyltransferase specific molecular chaperone; Core 1 beta3-Gal-T2; Core 1 beta3-galactosyltransferase-specific molecular chaperone; Core 1 UDP galactose:N acetylgalactosamine alpha R beta 1,3 galactosyltransferase 2 ; COSMC ; MGC19947; MST143

Target Background

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.