C1GALT1 - core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 Gene

Homo sapiens

Also known as C1GALT; T-synthase

Gene ID: 56913 | Gene type: protein coding

About C1GALT1

Cytogenetic location: 7p22.1-p21.3 Genomic coordinates (GRCh38): 7:7,157,377-7,248,616 (from NCBI)

This gene has 6 transcripts (splice variants), 148 orthologues and 2 paralogues. Ubiquitous expression in bone marrow (RPKM 7.5), duodenum (RPKM 6.7) and 24 other tissues.

Summary

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]

C1GALT1 Products(1)

mRNA	Protein	Name
NM_020156.5	NP_064541.1	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity	IDA IDA: Inferred from direct assay	11677243	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21496458	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in angiogenesis	IMP IMP: Inferred from mutant phenotype	17228361	GOA
involved in kidney development	IMP IMP: Inferred from mutant phenotype	17228361	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in membrane	IDA IDA: Inferred from direct assay	11677243	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

C1GALT1 Protein Structure

Fringe

0
100
200
300
363 a.a.

Protein Preferred Names

Protein Names

glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1

B3Gal-T8

C1GALT1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	C1GALT1	Q9NS00	C1GALT1C1	Homo sapiens	Q96EU7	Enzymatic Study	21496458

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Iga Glomerulonephritis

Iga Nephropathy	Glomerulonephritis, Iga
Berger'S Iga Or Igg Nephropathy	Focal Glomerulonephritis
Primary Iga Nephropathy	Segmental Glomerulonephritis
Berger Disease	Berger'S Disease
Igan	Nephritis, Iga Type
Nephropathy Iga	Glomerulonephritis Focal
Iga Nephropathy, Susceptibility To	Primary Immunoglobulin A Nephropathy

Lutembacher'S Syndrome

Lutembacher Syndrome

Lutembacher'S Anomaly

Hypersensitivity Vasculitis

Cutaneous Small Vessel Vasculitis	Hypersensitivity Angiitis
Cutaneous Leukocytoclastic Vasculitis	Leukocytoclastic Angiitis
Vasculitis, Leukocytoclastic, Cutaneous	Leukocytoclastic Vasculitis
Cutaneous Leukocytoclastic Angiitis	Cutaneous Hypersensitivity Vasculitis
Vasculitis Hypersensitivity	Drug Induced Cutaneous Vasculitis
Allergic Vasculitis

Henoch-Schoenlein Purpura

Henoch-Schonlein Purpura	Iga Vasculitis
Allergic Purpura	Anaphylactoid Purpura
Rheumatoid Purpura	Immunoglobulin A Vasculitis
Vascular Purpura	Purpura Rheumatica
Henoch-Schönlein Purpura	Autoimmune Purpura
Henoch-Schnlein Purpura	Henoch-Sch@Nlein Purpura
Henoch-Scholein Purpura	Purpura, Autoimmune
Henoch Schonlein Purpura	Immunoglobulin-A Vasculitis
Purpura, Schonlein-Henoch	Purpura, Schönlein-Henoch
Hsp -	Schönlein-Henoch Purpura

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01707	C1GALT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS01708	C1GALT1C1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	C1GALT1	VGNC	VGNC:60217
Mus musculus	C1GALT1	MGD	MGI:2151071
Bos taurus	C1GALT1	VGNC	VGNC:26615
Canis familiaris	C1GALT1	VGNC	VGNC:38574
Rattus norvegicus	C1GALT1	RGD	RGD:621105

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