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

Also Known as FS; A3GALNT; UNQ2513

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 26301

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

Glyco_transf_6: Glycosyltransferase family 6 (17 - 347)

  • 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

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
Others GBGT1 NCBI