B3GALNT1 - beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) Gene

Also Known as P1; GLOB; GLCT3; galT3; Gb4Cer; B3GALT3; B3GALANT1; beta3Gal-T3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8706

About B3GALNT1

Cytogenetic location: 3q26.1 Genomic coordinates (GRCh38): 3:161,083,883-161,105,349 (from NCBI)

This gene has 51 transcripts (splice variants), 278 orthologues, 15 paralogues and is associated with 2 phenotypes. Broad expression in heart (RPKM 13.1), thyroid (RPKM 10.2) and 24 other tissues.

Summary

This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these Enzymes are designated as type 1, whereas beta4GalT Enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 Other beta3GalT genes (beta3GalT1-3, beta3GalT5). The encoded protein of this gene does not use N-acetylglucosamine as an acceptor sugar at all. [provided by RefSeq, Mar 2017]

B3GALNT1 Products (39)

mRNA Protein Name
NM_001038628.2 NP_001033717.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b
NM_001349130.2 NP_001336059.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b
NM_001349131.2 NP_001336060.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b
NM_001349132.2 NP_001336061.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b
NM_001349133.2 NP_001336062.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b
NM_001349134.2 NP_001336063.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b
NM_001349135.2 NP_001336064.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b
NM_001349136.2 NP_001336065.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b
NM_001349137.2 NP_001336066.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b
NM_001349138.2 NP_001336067.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b
NM_001349139.2 NP_001336068.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b
NM_001349140.2 NP_001336069.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b
NM_001349141.2 NP_001336070.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b
NM_001349142.2 NP_001336071.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b
NM_001349143.2 NP_001336072.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b
NM_001349144.2 NP_001336073.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b
NM_001349145.2 NP_001336074.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b
NM_001349146.2 NP_001336075.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b
NM_001349147.2 NP_001336076.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b
NM_001349148.2 NP_001336077.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b
NM_001349149.2 NP_001336078.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b
NM_001349150.2 NP_001336079.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b
NM_001349151.2 NP_001336080.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b
NM_001349152.2 NP_001336081.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b
NM_001349153.2 NP_001336082.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b
NM_001349154.2 NP_001336083.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b
NM_001349155.2 NP_001336084.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b
NM_001349156.2 NP_001336085.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b
NM_001349157.2 NP_001336086.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b
NM_001349158.2 NP_001336087.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b
NM_001349159.2 NP_001336088.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b
NM_001349160.1 NP_001336089.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b
NM_001349161.2 NP_001336090.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b
NM_001349162.2 NP_001336091.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform a
NM_001349163.2 NP_001336092.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform a
NM_003781.4 NP_003772.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b
NM_033167.3 NP_149357.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b
NM_033168.3 NP_149358.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b
NM_033169.3 NP_149359.1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 isoform b

B3GALNT1 Protein Structure

Galactosyl_T

Galactosyl_T: Galactosyltransferase (92 - 282)

  • 0
  • 100
  • 200
  • 300
  • 331 a.a.
Protein Preferred Names Protein Names

UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1

  • P antigen synthase

Related Diseases

Diseases Alias
Blood Group, Globoside System
  • Globe Disease

  • GLOB

  • Blood Group System, Globoside

Blood Group, P1pk System
  • Blood Group, P1pk System, P Phenotype

  • Blood Group, P1pk System, P Phenotype

  • Nor Polyagglutination Syndrome

  • Blood Group, P1pk System, P(2) Phenotype

  • P1pk Blood Group System, P(2) Phenotype

  • Blood Group System, P1pk

Adhesive Otitis Media
  • Adhesive Middle Ear Disease

  • Chronic Adhesive Otitis Media

  • Adhesive Otitis

  • Fibrotic Adhesive Otitis Media

  • Adhesive Disorder Of Middle Ear

Myopathy With Extrapyramidal Signs
  • Proximal Myopathy With Extrapyramidal Signs

  • MPXPS

  • Myopathy, With Extrapyramidal Signs

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
Rattus norvegicus B3GALNT1 RGD RGD:1304797
Bos taurus B3GALNT1 VGNC VGNC:53513
Canis familiaris B3GALNT1 VGNC VGNC:53548
Macaca mulatta B3GALNT1 VGNC VGNC:84234
Mus musculus B3GALNT1 MGD MGI:1349405
Others B3GALNT1 NCBI