======= 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 |}}