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B3GALT1 beta-1,3-galactosyltransferase 1 [ Homo sapiens (human) ]

Gene ID: 8708, updated on 17-Jun-2019

Summary

Official Symbol
B3GALT1provided by HGNC
Official Full Name
beta-1,3-galactosyltransferase 1provided by HGNC
Primary source
HGNC:HGNC:916
See related
Ensembl:ENSG00000172318 MIM:603093
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
beta3Gal-T1
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]
Expression
Biased expression in colon (RPKM 1.2), brain (RPKM 0.9) and 2 other tissues See more
Orthologs

Genomic context

See B3GALT1 in Genome Data Viewer
Location:
2q24.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (167293060..167870856)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (168346692..168727366)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985958 Neighboring gene xin actin binding repeat containing 2 Neighboring gene XIRP2 antisense RNA 1 Neighboring gene RNA, U7 small nuclear 148 pseudogene Neighboring gene CTAGE family member 14, pseudogene Neighboring gene uncharacterized LOC105616981 Neighboring gene serine/threonine kinase 39 Neighboring gene uncharacterized LOC107985959 Neighboring gene PHD finger protein 5G pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Phenotypes

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

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

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126594, AC074363.1

Gene Ontology Provided by GOA

Process Evidence Code Pubs
galactosylceramide biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
lipid glycosylation IDA
Inferred from Direct Assay
more info
PubMed 
oligosaccharide biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oligosaccharide biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
protein N-linked glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
beta-1,3-galactosyltransferase 1
Names
UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1
UDP-galactose:beta-N-acetyl-glucosamine-beta-1,3-galactosyltransferase 1
beta-1,3-GalTase 1
beta3GalT1
NP_066191.1
XP_005246988.1
XP_006712882.1
XP_011510387.1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_050644.1 RefSeqGene

    Range
    530612..582796
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_020981.3NP_066191.1  beta-1,3-galactosyltransferase 1

    See identical proteins and their annotated locations for NP_066191.1

    Status: REVIEWED

    Source sequence(s)
    AC016723, AF117222
    Consensus CDS
    CCDS2227.1
    UniProtKB/Swiss-Prot
    Q9Y5Z6
    Related
    ENSP00000376456.2, ENST00000392690.3
    Conserved Domains (1) summary
    pfam01762
    Location:92279
    Galactosyl_T; Galactosyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    167293060..167870856
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011512085.2XP_011510387.1  beta-1,3-galactosyltransferase 1 isoform X1

    See identical proteins and their annotated locations for XP_011510387.1

    UniProtKB/Swiss-Prot
    Q9Y5Z6
    Conserved Domains (1) summary
    pfam01762
    Location:92279
    Galactosyl_T; Galactosyltransferase
  2. XM_005246931.3XP_005246988.1  beta-1,3-galactosyltransferase 1 isoform X1

    See identical proteins and their annotated locations for XP_005246988.1

    UniProtKB/Swiss-Prot
    Q9Y5Z6
    Conserved Domains (1) summary
    pfam01762
    Location:92279
    Galactosyl_T; Galactosyltransferase
  3. XM_006712819.3XP_006712882.1  beta-1,3-galactosyltransferase 1 isoform X1

    See identical proteins and their annotated locations for XP_006712882.1

    UniProtKB/Swiss-Prot
    Q9Y5Z6
    Conserved Domains (1) summary
    pfam01762
    Location:92279
    Galactosyl_T; Galactosyltransferase
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