C1GALT1C1 Back

C1GALT1-specific chaperone 1

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NCBI Description of C1GALT1C1
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.

Community Annotation of C1GALT1C1 Add / Edit C1GALT1C1: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

C1GALT1C1 is highly significantly mutated in
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C1GALT1C1 is significantly mutated in
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C1GALT1C1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for C1GALT1C1