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

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

Homo sapiens

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

Gene ID: 8706 | Gene type: protein coding

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