1. Gene
  2. B3GALT1 - beta-1,3-galactosyltransferase 1 Gene

B3GALT1 - beta-1,3-galactosyltransferase 1 Gene

Homo sapiens

Also known as beta3Gal-T1

Gene ID: 8708 | Gene type: protein coding

About B3GALT1

Cytogenetic location: 2q24.3 Genomic coordinates (GRCh38): 2:167,293,001-167,874,045 (from NCBI)

This gene has 1 transcript (splice variant), 272 orthologues and 15 paralogues. Biased expression in colon (RPKM 1.2), brain (RPKM 0.9) and 2 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). This gene is expressed exclusively in the brain. The encoded protein shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008]

B3GALT1 Products(1)

mRNA Protein Name
NM_020981.4 NP_066191.1 beta-1,3-galactosyltransferase 1

B3GALT1 Protein Structure

Galactosyl_T

Galactosyl_T: Galactosyltransferase (93 - 281)

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  • 326 a.a.
Protein Preferred Names Protein Names

beta-1,3-galactosyltransferase 1

UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1

Related Diseases

Diseases Alias
Gluten Allergy

Allergy To Gluten

Gluten Allergic Reaction

Cervical Adenosquamous Carcinoma

Adenosquamous Carcinoma Of Cervix

Adenosquamous Cell Carcinoma Of The Cervix Uteri

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 B3GALT1 RGD RGD:1311898
Bos taurus B3GALT1 VGNC VGNC:26372
Canis familiaris B3GALT1 VGNC VGNC:38333
Felis catus B3GALT1 VGNC VGNC:68930
Macaca mulatta B3GALT1 VGNC VGNC:70204
Mus musculus B3GALT1 MGD MGI:1349403