======= C1GALT1C1 ======= == Gene Information == * **Official Symbol**: C1GALT1C1 * **Official Name**: C1GALT1 specific chaperone 1 * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=29071|29071]] * **UniProt**: [[https://www.uniprot.org/uniprot/Q96EU7|Q96EU7]] * **Interactions**: [[https://thebiogrid.org/search.php?search=C1GALT1C1&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20C1GALT1C1|Open PubMed]] * **OMIM**: [[https://omim.org/entry/300611|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}. No Pfam Domain information is available for this gene. |O-glycan processing, core 1| |glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity| |platelet morphogenesis| |O-glycan processing| |protein O-linked glycosylation| |platelet activation| |macromolecule glycosylation| |protein glycosylation| |glycosylation| |blood coagulation| |coagulation| |hemostasis| |glycoprotein biosynthetic process| |glycoprotein metabolic process| |wound healing| |regulation of body fluid levels| |cell morphogenesis involved in differentiation| |response to wounding| |carbohydrate derivative biosynthetic process| |Golgi membrane| |cell morphogenesis| |cellular component morphogenesis| |carbohydrate derivative metabolic process| |cell activation| |organonitrogen compound biosynthetic process| |cell development| |cellular macromolecule biosynthetic process| |macromolecule biosynthetic process| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp227|Cryptotanshinone 12μM R05 exp227]]|-1.74| |[[:results:exp121|Golgicide-A 2μM R03 exp121]]|1.73| |[[:results:exp16|DABN 2μM R00 exp16]]|1.93| No correlation found to any other genes in chemogenomics. Global Fraction of Cell Lines Where Essential: 0/694 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/26| |bone|0/26| |breast|0/30| |central nervous system|0/49| |cervix|0/4| |colorectal|0/17| |esophagus|0/11| |fibroblast|0/1| |gastric|0/14| |kidney|0/18| |liver|0/19| |lung|0/72| |lymphocyte|0/16| |ovary|0/25| |pancreas|0/22| |peripheral nervous system|0/15| |plasma cell|0/12| |prostate|0/1| |skin|0/20| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/28| |uterus|0/5| == Essentiality in NALM6 == * **Essentiality Rank**: 13830 * **Expression level (log2 read counts)**: 4.28 {{:chemogenomics:nalm6 dist.png?nolink |}}