B3GALT4 beta-1,3-galactosyltransferase 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: B3GALT4provided by HGNC
Official Full Name: beta-1,3-galactosyltransferase 4provided by HGNC
Primary source: HGNC:HGNC:919
See related: Ensembl:ENSG00000235863 MIM:603095; AllianceGenome:HGNC:919
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GALT2; GALT4; BETA3GALT4
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]
Orthologs: mouse all
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Genomic context

Location:: 6p21.32

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (33277123..33278825)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (33098485..33100187)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (33244900..33246602)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

In patients with late-onset Alzheimer disease, a number of differentially methylated postitions were hypomethylated in B3GALT4 compared with controls.
Title: DNA Hypomethylation in Blood Links B3GALT4 and ZADH2 to Alzheimer's Disease.
B3GALT4 knockdown decreases GM1 ganglioside level and enhances vulnerability for neurodegeneration.
Title: siRNA-mediated knockdown of B3GALT4 decreases GM1 ganglioside expression and enhances vulnerability for neurodegeneration.
Colorectal cancer (CRC) patients expressing both high B7-H3 and high B3GALT4 contributed to a significant decrease in overall survival. The expression of B3GALT4 in CRC is positively correlated with B7-H3 expression in vitro. B7-H3/B3GLAT4 may be used as dual prognostic biomarkers for CRC.
Title: Clinical correlation of B7-H3 and B3GALT4 with the prognosis of colorectal cancer.
Induction of GM1a/GD1b synthase triggers complex ganglioside expression and alters neuroblastoma cell behavior; a new tumor cell model of ganglioside function
Title: Induction of GM1a/GD1b synthase triggers complex ganglioside expression and alters neuroblastoma cell behavior; a new tumor cell model of ganglioside function.
Data showed that GM1/GD1b/GA1 synthase transfectant cells had definite reduction in cell growth and invasion.
Title: GM1 / GD1b / GA1 synthase expression results in the reduced cancer phenotypes with modulation of composition and raft-localization of gangliosides in a melanoma cell line.
Observational study of gene-disease association. (HuGE Navigator)
Title: High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.
We found beta3Gal-T4 and T5 enzymatic activity in ovarian cancer tissues, indicating that these enzymes are expressed at least in ovarian cancer
Title: Beta1,3-galactosyltransferases-4/5 are novel tumor markers for gynecological cancers.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Newly identified loci that influence lipid concentrations and risk of coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus	PubMed

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH77 (e-PCR)
- UniSTS:89654

RH12532 (e-PCR)
- UniSTS:78925

G43302 (e-PCR)
- UniSTS:94931

RH12439 (e-PCR)
- UniSTS:69093

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity	TAS Traceable Author Statement more info
enables ganglioside galactosyltransferase activity	IEA Inferred from Electronic Annotation more info
enables glycosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glycosyltransferase activity	IEA Inferred from Electronic Annotation more info
enables hexosyltransferase activity	IEA Inferred from Electronic Annotation more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in carbohydrate derivative biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in ganglioside biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in glycosphingolipid biosynthetic process	TAS Traceable Author Statement more info
involved_in lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in oligosaccharide biosynthetic process	TAS Traceable Author Statement more info
involved_in protein O-linked glycosylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein glycosylation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
is_active_in Golgi membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: beta-1,3-galactosyltransferase 4

Names: UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase 4; UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4; UDP-galactose:beta-N-acetyl-galactosamine-beta-1,3-galactosyltransferase; b3Gal-T4; beta-1,3-GalTase 4; beta-3-galactosyltransferase 4; gal-T2; ganglioside galactosyltransferase

NP_003773.1

EC 2.4.1.62

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.