GBGT1 - globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) Gene

Homo sapiens

Also known as FS; A3GALNT; UNQ2513

Gene ID: 26301 | Gene type: protein coding

About GBGT1

Cytogenetic location: 9q34.2 Genomic coordinates (GRCh38): 9:133,152,948-133,163,914 (from NCBI)

This gene has 12 transcripts (splice variants), 323 orthologues and 3 paralogues. Ubiquitous expression in placenta (RPKM 6.0), appendix (RPKM 5.4) and 24 other tissues.

Summary

This gene encodes a glycosyltransferase that plays a role in the synthesis of Forssman glycolipid (FG), a member of the globoseries glycolipid family. Glycolipids such as FG form attachment sites for the binding of pathogens to cells; expression of this protein may determine host tropism to Microorganisms. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

GBGT1 Products(5)

mRNA	Protein	Name
NM_001282629.2	NP_001269558.1	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 isoform 2
NM_001282632.2	NP_001269561.1	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 isoform 3
NM_001288572.2	NP_001275501.1	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 isoform 4
NM_001288573.2	NP_001275502.1	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 isoform 5
NM_021996.6	NP_068836.2	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 isoform 1

GBGT1 Protein Structure

Glyco_transf_6

0
100
200
300
347 a.a.

Protein Preferred Names

Protein Names

globoside alpha-1,3-N-acetylgalactosaminyltransferase 1

Forssman blood group

Related Diseases

Diseases

Alias

Congenital Muscular Dystrophy-Dystroglycanopathy Type A11

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A11	Mddga11
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease B3galnt2-Related	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A11

Inflammatory Bowel Disease 19

Inflammatory Bowel Disease 19	IBD19
Bowel Disease, Inflammatory, Type 19

Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C	NPC1
Niemann-Pick Disease, Type D	Niemann-Pick Disease Type C1
Niemann-Pick Disease With Cholesterol Esterification Block	Niemann-Pick Disease, Subacute Juvenile Form
Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia	Npc
Niemann-Pick Disease, Chronic Neuronopathic Form	Niemann-Pick Disease Without Sphingomyelinase Deficiency
Niemann-Pick Disease Type C	Niemann-Pick Disease Type D
Niemann-Pick C1 Disease	Niemann-Pick Disease C1
Niemann-Pick Disease Chronic Neuronopathic Form	Niemann-Pick Disease Nova Scotian Type
Niemann-Pick Disease Subacute Juvenile Form	Niemann-Pick Disease Type Ii
Niemann-Picks Disease Type C

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05306	GBGT1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	GBGT1	MGD	MGI:2449143
Bos taurus	GBGT1	VGNC	VGNC:59217
Rattus norvegicus	GBGT1	RGD	RGD:1591938
Canis familiaris	GBGT1	VGNC	VGNC:55567

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