C1GALT1

Also known as C1GALT, T-synthase, core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1

Core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1, also known as C1GALT1, is an enzyme which in humans is encoded by the C1GALT1 gene.

Gene data

C1GALT1

Name: core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
Type: protein-coding
Position: 7,156,934–7,259,333 (+)
Aliases: C1GALT, T-synthase
Ensembl: ENSG00000106392
RefSeq RNA: NM_020156.5, XM_011515456.3, XM_017012442.2, XM_017012444.2, XM_017012445.2
RefSeq protein: NP_064541.1, XP_011513758.1, XP_016867931.1, XP_016867933.1, XP_016867934.1

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 gene plays a key role in thrombopoiesis and kidney homeostasis.[provided by RefSeq, Sep 2010].

Gene Ontology

Biological process

angiogenesis angiogenesis kidney development

Molecular function

protein binding N-acetylgalactosaminide beta-1,3-galactosyltransferase activity N-acetylgalactosaminide beta-1,3-galactosyltransferase activity N-acetylgalactosaminide beta-1,3-galactosyltransferase activity glycosyltransferase activity

Cellular component

Golgi membrane membrane membrane membrane

Pathways

Mucin type O-glycan biosynthesis - Homo sapiens (human)Other types of O-glycan biosynthesis - Homo sapiens (human)Disease Diseases of glycosylation Diseases associated with O-glycosylation of proteins Metabolism of proteins Defective C1GALT1C1 causes TNPS O-linked glycosylation Diseases of metabolism Post-translational protein modification

via MyGene.info

Gene · Ensembl

core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1

Symbol: C1GALT1
Biotype: Protein coding
Organism: Homo sapiens
Location: 7:7,156,934-7,259,333
Strand: Forward (+)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Show 5 more facts

HomoloGene ID: 10599
exact match: identifiers.org/ncbigene/56913
genomic end: 7248616
genomic start: 7196565
cytogenetic location: 7p22.1-p21.3

Sources (6)

via Wikidata · CC0

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Article

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Contents

Function
Clinical significance
See also
References

Core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1, also known as C1GALT1, is an enzyme which in humans is encoded by the C1GALT1 gene.

==Function== The common core 1 O-glycan structure Gal-beta-1-3GalNAc-R is a precursor for many extended mucin-type O-glycan structures in animal cell surface and secreted glycoproteins. Core 1 is synthesized by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R by core 1 beta-3-galactosyltransferase (C1GALT1).