HuLPr13189

Uniprot ID

C1GLC_HUMAN

Uniprot Acc

Q96EU7;A8K246;Q8WWS3;Q9NZX1;

Protein name

C1GALT1-specific chaperone 1

Comment

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).||SUBUNIT:Associates with core 1 beta-3-galactosyltransferase (C1GALT1), probably not with the soluble active form.||SUBCELLULAR LOCATION:Membrane; Single-pass type II membrane protein (Potential).||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.||DISEASE:Defects in C1GALT1C1 are the cause of Tn syndrome (TNSYN) [MIM:300622]. Tn syndrome is a rare autoimmune disease caused by somatic mutation in the C1GALT1C1 gene in which subpopulations of blood cells of all lineages carry

Subcellular localization

Membrane;Single-pass type II membrane protein(Potential).

Gene name

C1GALT1-specific chaperone 1

Protein sequence

MLSESSSFLKGVMLGSIFCALITMLGHIRIGHGNRMHHHE HHHLQAPNKEDILKISEDERMELSKSFRVYCIILVKPKD VSLWAAVKETWTKHCDKAEFFSSENVKVFESINMDTNDM WLMMRKAYKYAFDKYRDQYNWFFLARPTTFAIIENLKYF LLKKDPSQPFYLGHTIKSGDLEYVGMEGGIVLSVESMKR LNSLLNIPEKCPEQGGMIWKISEDKQLAVCLKYAGVFAE NAEDADGKDVFNTKSVGLSIKEAMTYHPNQVVEGCCSDM AVTFNGLTPNQMHVMMYGVYRLRAFGHIFNDALVFLPPNGSDND

Database cross reference

RefSeq Protein accession:NP_001011551
RefSeq Protein gi:58532584

HLPP validation

Yes/No

Yes

Project name

Chinese Liver;French Liver;

GO:0016021;C:integral to membrane;IEA:UniProtKB-KW.