B3GALT4 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
B3GALT4
Official Name
beta-1,3-galactosyltransferase 4 [Source:HGNC Symbol;Acc:HGNC:919]
Ensembl ID
ENSG00000206285
Bio databases IDs NCBI: 8705 Ensembl: ENSG00000206285
Aliases beta-1,3-galactosyltransferase 4
Synonyms Beta-1,3-galactosyltransferase 4, BETA3GALT4, GALT2, GALT4, LOC100045158, UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4, UDP-Gal:betaGlcNAc β 1,3-galactosyltransferase, polypeptide 4, β-1,3-galactosyltransferase 4
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human B3GALT4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • UDP-galactose beta-N-acetylglucosamine beta-1,3-galactosyltransferase
  • galactosyltransferase
  • ganglioside galactosyltransferase
  • enzyme

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • non-small cell lung carcinoma
  • non-small cell lung cancer
  • organismal death
  • systemic juvenile idiopathic arthritis
  • intoxication
  • Huntington disease
regulated by
regulates
  • glycosphingolipid
  • ganglioside GM1
  • oligosaccharide
  • ganglioside
role in cell
  • accumulation
  • progression

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • Golgi Apparatus
  • Golgi membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human B3GALT4 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • protein O-linked glycosylation
  • oligosaccharide biosynthetic process
  • glycosphingolipid biosynthetic process
  • ganglioside biosynthetic process

Cellular Component

Where in the cell the gene product is active
  • Golgi membrane

Molecular Function

What the gene product does at the molecular level
  • ganglioside galactosyltransferase activity
  • UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.