B3GALT4 - beta-1,3-galactosyltransferase 4 Gene

Also Known as GALT2; GALT4; BETA3GALT4

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8705

About B3GALT4

Cytogenetic location: 6p21.32 Genomic coordinates (GRCh38): 6:33,277,123-33,278,825 (from NCBI)

This gene has 2 transcripts (splice variants), 1 gene allele, 184 orthologues and 15 paralogues.

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 oriented telomere to centromere in close proximity to the ribosomal protein S18 gene. The functionality of the encoded protein is limited to ganglioseries glycolipid biosynthesis. [provided by RefSeq, Jul 2008]

B3GALT4 Products (1)

mRNA Protein Name
NM_003782.4 NP_003773.1 beta-1,3-galactosyltransferase 4

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity IDA
IDA: Inferred from direct assay
9582303 GOA
Biological Process GO Annotation Evidence References Source
involved in ganglioside biosynthetic process IDA
IDA: Inferred from direct assay
9582303 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

B3GALT4 Protein Structure

Galactosyl_T

Galactosyl_T: Galactosyltransferase (85 - 308)

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

beta-1,3-galactosyltransferase 4

  • UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase 4

B3GALT4 Antibodies

Cat. No. Product Name Application Reactivity
HY-P83885 B3GALT4 Antibody (YA3582) WB, FC, ELISA Human
HY-P83885A B3GALT4 Antibody (YA3582)(PBS only) WB, FC, ELISA Human

Related Diseases

Diseases Alias
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

  • Ehlers-Danlos Syndrome Progeroid Type

  • Ehlers-Danlos Syndrome, Progeroid Type, 2

  • EDSSPD2

  • Ehlers-Danlos Syndrome Spondylodysplastic Type 2

  • Ehlers-Danlos Syndrome, Progeroid Type, 2, Formerly

  • Edsp2, Formerly

  • Defective Biosynthesis Of Proteodermatan Sulfate

  • Xgpt Deficiency

  • Xylosylprotein 4-Beta-Galactosyltransferase Deficiency

  • B3galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome

  • B3galt6-Related Speds

  • B3galt6-Related Spondylodysplastic Eds

  • Beta3galt6-Deficient Eds

  • Ehlers-Danlos Syndrome Progeroid Type 2

  • Speds-B3galt6

  • Edsp2

  • Ehlers-Danlos, Spondylodysplastic Syndrome, Type 2

  • Ehlers-Danlos Syndrome, Progeroid Form
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy

  • Jankovic-Rivera Syndrome

  • SMAPME

  • Sma-Pme

  • Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome

  • Hereditary Myoclonus-Progressive Distal Muscular Atrophy Syndrome

  • Hereditary Myoclonus With Progressive Distal Muscular Atrophy

  • Jankovic Rivera Syndrome

  • Myoclonus, Hereditary, With Progressive Distal Muscular Atrophy

  • Myoclonus Hereditary Progressive Distal Muscular Atrophy

  • Atrophy, Muscular, Spinal, With Progressive Myoclonic Epilepsy
Polycystic Kidney Disease

  • Polycystic Kidney Diseases

  • Pkd

  • Polycystic Renal Disease

  • Kidney Disease, Polycystic

  • Polycystic Kidney, Autosomal Dominant
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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS01304 B3GALT4 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus B3GALT4 VGNC VGNC:68948
Mus musculus B3GALT4 MGD MGI:1859517
Canis familiaris B3GALT4 VGNC VGNC:38335
Macaca mulatta B3GALT4 VGNC VGNC:104311
Bos taurus B3GALT4 VGNC VGNC:26374
Rattus norvegicus B3GALT4 RGD RGD:620328
Others B3GALT4 NCBI