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

Also Known as C1GALT; T-synthase

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 56913

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

Cross: Cross-species interaction Intra: Intraspecies interaction

C1GALT1 Antibodies

Cat. No.	상품명	신청	Reactivity
HY-P89711	C1GALT1 Antibody (YA9055)	WB, ICC/IF, IF-Tissue, IHC-P, IP, ELISA	human

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

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS01707	C1GALT1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS01708	C1GALT1C1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21231	C1galt1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22079	C1galt1c1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27748	C1galt1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28598	C1galt1c1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	C1GALT1	NCBI