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

    Gene ID: 8708, updated on 8-Jul-2021

    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
    NEW
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    Genomic context

    See B3GALT1 in Genome Data Viewer
    Location:
    2q24.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (167293001..167874045)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (168149511..168730555)

    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 B3GALT1 antisense RNA 1 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

    Associated conditions

    Description Tests
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    GeneReviews: Not available

    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 PubChem

    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
    involved_in galactosylceramide biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in lipid glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in lipid glycosylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in oligosaccharide biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in oligosaccharide biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in protein glycosylation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
     
    located_in 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_006712882.1
    XP_011510387.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_020981.4NP_066191.1  beta-1,3-galactosyltransferase 1

      See identical proteins and their annotated locations for NP_066191.1

      Status: REVIEWED

      Source sequence(s)
      AC016723, AC017070, AC074363, AC093684
      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 Updated Annotation Release 109.20210514

    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
      167293001..167874045
      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_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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