C1galt1 Gene Search Result

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6 records found for search term C1galt1

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
732029	C1GALT1	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1	The protein encoded by this gene generates the common core 1 O-glycan structure, Gal-beta-1-3GalNAc-R, by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R. Core 1 is a precursor for many extended mucin-type O-glycans on cell surface and secreted glycoproteins. Studies in mice suggest that this g ... (more) ene plays a key role in thrombopoiesis and kidney homeostasis.[provided by RefSeq, Sep 2010]	7	7157377	7248616	Human	105	symbol , COSMIC , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
9850238	C1GALT1P1	C1GALT1 pseudogene 1	INTERACTS WITH aristolochic acid A	12	69284217	69285684	Human	1	symbol , COSMIC , name , Human Proteome Map	gene, pseudo, INFERRED [RefSeq]
9850239	C1GALT1P2	C1GALT1 pseudogene 2		5	56192368	56193835	Human		symbol , COSMIC , name , Human Proteome Map	gene, pseudo, INFERRED [RefSeq]
10399653	C1GALT1P3	C1GALT1 pseudogene 3		8	61909984	61910802	Human		symbol , COSMIC , name , Human Proteome Map	gene, pseudo, INFERRED [RefSeq]
1344219	C1GALT1C1	C1GALT1 specific chaperone 1	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, ... (more) 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]	X	120625674	120630054	Human	147	symbol , old_gene_name , COSMIC , name , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
9999358	C1GALT1C1L	C1GALT1 specific chaperone 1 like	Predicted to enable glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]	2	43675151	43676429	Human	9	symbol , old_gene_name , COSMIC , name , Human Proteome Map	gene, protein-coding, VALIDATED [RefSeq]