| Gene Symbol | C1GALT1C1 |
|---|---|
| Entrez Gene | 29071 |
| Alt Symbol | C1GALT2, C38H2-L1, COSMC, HSPC067, MST143, TNPS |
| Species | Human |
| Gene Type | protein-coding |
| Description | C1GALT1-specific chaperone 1 |
| Other Description | C1Gal-T2|C38H2-like protein 1|beta 1,3-galactosyltransferase 2|core 1 beta1,3-galactosyltransferase 2|core 1 beta3-Gal-T2|core 1 beta3-galactosyltransferase-specific molecular chaperone |
| Swissprots | A8K246 Q96EU7 Q9NZX1 Q8WWS3 |
| Accessions | EAX11873 Q96EU7 AA578739 AB084170 BAC41493 AF088029 AF161552 AAF29039 AF177284 AAQ13670 AJ238398 CAC80277 AK290111 BAF82800 AY159319 AAN78129 AY358642 AAQ89005 BC011930 AAH11930 BC012502 BC050441 AAH50441 BG779539 BM971206 JF432849 ADZ16066 NM_001011551 NP_001011551 NM_152692 NP_689905 |
| 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). {ECO:0000269|PubMed:12464682}. |
| Subcellular Location | Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}. |
| 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. {ECO:0000269|PubMed:12361956}. |
| Top Pathways | Mucin type O-Glycan biosynthesis |