C1galt1c1 C1GALT1-specific chaperone 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: C1galt1c1provided by MGI
Official Full Name: C1GALT1-specific chaperone 1provided by MGI
Primary source: MGI:MGI:1913493
See related: Ensembl:ENSMUSG00000048970 AllianceGenome:MGI:1913493
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Cosmc; C1GalT2; 1500002I11Rik
Summary: Predicted to enable glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity. Acts upstream of or within platelet activation; platelet morphogenesis; and protein O-linked glycosylation. Predicted to be located in membrane. Human ortholog(s) of this gene implicated in Tn polyagglutination syndrome and hemolytic-uremic syndrome. Orthologous to human C1GALT1C1 (C1GALT1 specific chaperone 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in bladder adult (RPKM 14.4), large intestine adult (RPKM 13.0) and 26 other tissues See more
Orthologs: human all
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Genomic context

Location:: X A3.3; X 22.91 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (37719660..37724020, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (38630783..38635143, complement)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Global Loss of Core 1-Derived O-Glycans in Mice Leads to High Mortality Due to Acute Kidney Failure and Gastric Ulcers.
Title: Global Loss of Core 1-Derived O-Glycans in Mice Leads to High Mortality Due to Acute Kidney Failure and Gastric Ulcers.
Cosmc controls B cell homing.
Title: Cosmc controls B cell homing.
Cosmc-dependent mucin-type O-linked glycosylation has an essential and likely cell nonautonomous role for podocyte function.
Title: Cosmc-dependent mucin-type O-linked glycosylation is essential for podocyte function.
Loss of Cosmc is highly deleterious to T cell persistence, with near-complete elimination of Cosmc-null T cells from spleen and lymph nodes.
Title: Cosmc is required for T cell persistence in the periphery.
Cosmc is an inflammatory bowel disease risk factor and is implicated in regulating the spatial pattern of dysbiosis and sex bias in IBD.
Title: Cosmc is an X-linked inflammatory bowel disease risk gene that spatially regulates gut microbiota and contributes to sex-specific risk.
These results demonstrated that core 1-derived O-glycan is required for Tim4-dependent normal efferocytosis and may contribute to the stable expression of the Tim4 glycoprotein.
Title: Incomplete clearance of apoptotic cells by core 1-derived O-glycan-deficient resident peritoneal macrophages.
Cosmc is an essential chaperone for correct protein O-glycosylation.
Title: Cosmc is an essential chaperone for correct protein O-glycosylation.
a somatic mutation in the chaperone gene Cosmc abolished function of a glycosyltransferase, disrupting O-glycan Core 1 synthesis & creating a tumor-specific glycopeptidic neo-epitope consisting of a monosaccharide and a specific wild-type protein sequence
Title: A mutant chaperone converts a wild-type protein into a tumor-specific antigen.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity	ISO Inferred from Sequence Orthology more info
NOT enables glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within platelet activation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within platelet morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of transferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein O-linked glycosylation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein O-linked glycosylation	ISO Inferred from Sequence Orthology more info
involved_in protein O-linked glycosylation	ISO Inferred from Sequence Orthology more info
involved_in protein O-linked glycosylation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: C1GALT1-specific chaperone 1

Names: C1Gal-T2; beta1,3-galactosyltransferase 2; core 1 beta1,3-galactosyltransferase 2; core 1 beta3-Gal-T2; core 1 beta3-galactosyltransferase-specific molecular chaperone; mC1Gal-T2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.