C1galt1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: C1galt1provided by MGI
Official Full Name: core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1provided by MGI
Primary source: MGI:MGI:2151071
See related: Ensembl:ENSMUSG00000042460 AllianceGenome:MGI:2151071
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: T-synthase; 2210410E06Rik
Summary: Predicted to enable glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity. Acts upstream of or within angiogenesis; intestinal epithelial cell development; and protein O-linked glycosylation. Predicted to be located in membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Orthologous to human C1GALT1 (core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in placenta adult (RPKM 10.0), colon adult (RPKM 6.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 A1; 6 3.37 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (7845224..7872042)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (7845224..7872042)

Chromosome 6 - NC_000072.7 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.
pancreas-specific conditional KO of C1galt1 expression of truncated O-glycans, which in turn accelerates Pancreatic ductal adenocarcinomas (PDACs) progression and metastasis.
Title: Disruption of C1galt1 Gene Promotes Development and Metastasis of Pancreatic Adenocarcinomas in Mice.
hepatic asialoglycoprotein receptor promotes preferential adherence to and phagocytosis of desialylated and/or HC C1galt1(-/-) platelets by the Kupffer cell through its C-type lectin receptor CLEC4F. These findings provide insights into an essential role for core 1 O-glycosylation of platelets in their clearance in the liver.
Title: Sialylation on O-glycans protects platelets from clearance by liver Kupffer cells.
Deletion of C1galt1 in mice develop spontaneous microbiota-dependent colitis with a remitting/relapsing course due to loss of mucin core-1 derived O-glycans.
Title: Microbial, metabolomic, and immunologic dynamics in a relapsing genetic mouse model of colitis induced by T-synthase deficiency.
C1GALT1 promotes invasive phenotypes of hepatocellular carcinoma cells by modulating integrin beta1 glycosylation and activity.
Title: C1GALT1 promotes invasive phenotypes of hepatocellular carcinoma cells by modulating integrin β1 glycosylation and activity.
O-glycan is required for terminal megakaryocyte differentiation and platelet production and the decrease in GPIbalpha in cells lacking O-glycan might be caused by increased proteolysis.
Title: C1galt1-deficient mice exhibit thrombocytopenia due to abnormal terminal differentiation of megakaryocytes.
Data from transgenic mice suggest that a lack of complex N- and O-glycans impairs early embryo development and viability in vivo leading to delayed implantation and embryo loss; C1galt1 and MGAT1 are required for embryo development and implantation.
Title: Embryos generated from oocytes lacking complex N- and O-glycans have compromised development and implantation.
Transgenic mice were generated lacking T-synthase (C1galt1).
Title: Endothelial cell O-glycan deficiency causes blood/lymphatic misconnections and consequent fatty liver disease in mice.
It was found that targeted disruption of this gene causes embryonic lethality and defective angiogenesis in mice.
Title: Targeted disruption of the gene encoding core 1 beta1-3-galactosyltransferase (T-synthase) causes embryonic lethality and defective angiogenesis in mice.
disease in plt1/plt1 mice suggests that, in addition to immune-mediated effects, intrinsic C1Gal-T1 deficiency in megakaryocytes and the kidney may contribute to pathology
Title: Thrombocytopenia and kidney disease in mice with a mutation in the C1galt1 gene.

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Variation

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Alleles

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

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (5)
Gene trapped (1)
Targeted (5) 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 galactosyltransferase activity	ISO Inferred from Sequence Orthology more info	PubMed
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	IEA Inferred from Electronic Annotation more info
enables glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in angiogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within core 1 O-glycan biosynthetic process	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within intestinal epithelial cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in kidney development	IEA Inferred from Electronic Annotation more info
involved_in kidney development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein O-linked glycosylation	IMP Inferred from Mutant Phenotype more info	PubMed

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

General protein information

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Preferred Names: glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1

Names: T-syn; core 1 O-glycan T-synthase; core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 1; core 1 beta1,3-galactosyltransferase 1; core 1 beta3-Gal-T; core 1 beta3-Gal-T1; core1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 1

NP_443719.3

EC 2.4.1.122

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.