Query author contributions in Reactome
Reactome depends on collaboration between our curation team and outside experts to assemble and peer-review its pathway modules. The integration of ORCID within Reactome enables us to meet a key challenge with authoring, curating and reviewing biological information by incentivizing and crediting the external experts that contribute their expertise and time to the Reactome curation process. More information is available at ORCID and Reactome.
If you have an ORCID ID that is not listed on this page, please forward this information to us and we will update your Reactome pathway records.
Details on Person Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransfer...
| Class:Id | Summation:6785508 |
|---|---|
| _displayName | Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransfer... |
| _timestamp | 2015-12-16 15:40:32 |
| created | [InstanceEdit:6785504] Jassal, Bijay, 2015-06-29 |
| modified | [InstanceEdit:8849542] Jassal, Bijay, 2015-12-16 |
| text | Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 (C1GALT1; MIM:610555) mediates the transfer of Galactose (Gal) from UDP-galactose to single O-linked GalNAc residues (Tn antigens) to form Core 1 structures on glycoproteins. C1GALT1 is active when in complex with the molecular chaperone C1GALT1C1 (aka COSMC; MIM:300611) which assists the folding and/or stability of C1GALT1. Defects in C1GALT1C1 causes somatic Tn polyagglutination syndrome (TNPS; MIM:300622), characterised by the polyagglutination of erythrocytes by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on their surface. Defects in C1GALT1C1 render C1GALT1 inactive and results in the accumulation of the incompletely glycosylated Tn antigen. The Tn antigen is tumour-associated, found in a majority of human carcinomas, and is not normally expressed in peripheral tissues or blood cells (Crew et al. 2008, Ju et al. 2014). C1GALT1 and C1GALT1C1 belong to the CAZy family GT31 (www.cazy.org). Defects in C1GALT1C1 render C1GALT1 inactive and results in the accumulation of the incompletely glycosylated Tn antigen. Mutations in C1GALT1C1 causing TNPS include R68*, D131E, E152K, S193P and M1I (Ju & Cummings 2005, Crew et al. 2008). |
| (summation) | [FailedReaction:6785524] Defective C1GALT1C1 does not bind C1GALT1 [Homo sapiens] |
| [Change default viewing format] | |
No pathways have been reviewed or authored by Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransfer... (6785508)
