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    B3GALT5 beta-1,3-galactosyltransferase 5 [ Homo sapiens (human) ]

    Gene ID: 10317, updated on 8-Jul-2021

    Summary

    Official Symbol
    B3GALT5provided by HGNC
    Official Full Name
    beta-1,3-galactosyltransferase 5provided by HGNC
    Primary source
    HGNC:HGNC:920
    See related
    Ensembl:ENSG00000183778 MIM:604066
    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
    B3T5; GLCT5; B3GalTx; B3GalT-V; beta3Gal-T5; beta-3-Gx-T5; beta-1,3-GalTase 5
    Summary
    This gene encodes a member of a family of membrane-bound glycoproteins. The encoded protein may synthesize type 1 Lewis antigens, which are elevated in gastrointestinal and pancreatic cancers. Alternatively spliced transcript variants using multiple alternate promoters have been observed for this gene. [provided by RefSeq, Sep 2017]
    Expression
    Biased expression in small intestine (RPKM 5.1), colon (RPKM 4.2) and 3 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See B3GALT5 in Genome Data Viewer
    Location:
    21q22.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (39612940..39673137)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (40984867..41045064)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene JCAD pseudogene 1 Neighboring gene B3GALT5 antisense RNA 1 Neighboring gene B3GALT5 ERV-L LTR promoter Neighboring gene immunoglobulin superfamily member 5 Neighboring gene uncharacterized LOC107985499 Neighboring gene uncharacterized LOC107985500

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association study of suicide attempts in mood disorder patients.
    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity TAS
    Traceable Author Statement
    more info
     
    enables UDP-glycosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables glycosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in oligosaccharide biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in protein glycosylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to bacterium IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus HDA PubMed 
    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 endoplasmic reticulum HDA PubMed 
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    beta-1,3-galactosyltransferase 5
    Names
    UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5
    UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 5
    homolog of C. elegans Bt toxin resistance gene bre-5
    NP_001265579.1
    NP_001343265.1
    NP_001343267.1
    NP_001343268.1
    NP_006048.1
    NP_149360.1
    NP_149361.1
    NP_149362.2

    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.

    mRNA and Protein(s)

    1. NM_001278650.2NP_001265579.1  beta-1,3-galactosyltransferase 5 isoform a

      See identical proteins and their annotated locations for NP_001265579.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) represents use of the alternate A promoter and contains an alternate 5' UTR compared to variant 1.
      Source sequence(s)
      AB020337, AF064860, AK292951, AW136254, KF457302
      Consensus CDS
      CCDS13667.1
      UniProtKB/Swiss-Prot
      Q9Y2C3
      Related
      ENSP00000480285.1, ENST00000615480.5
      Conserved Domains (1) summary
      cl21608
      Location:71261
      Galactosyl_T; Galactosyltransferase
    2. NM_001356336.2NP_001343265.1  beta-1,3-galactosyltransferase 5 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) represents use of the alternate A promoter and contains an alternate 5' UTR compared to variant 1.
      Source sequence(s)
      AB020337, AF064860, AK292951, AW136254, DQ645732, KF457302
      Consensus CDS
      CCDS13667.1
      Related
      ENSP00000506797.1, ENST00000684187.1
      Conserved Domains (1) summary
      cl21608
      Location:71261
      Galactosyl_T; Galactosyltransferase
    3. NM_001356338.2NP_001343267.1  beta-1,3-galactosyltransferase 5 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) represents use of the alternate C promoter and contains an alternate 5' UTR compared to variant 1.
      Source sequence(s)
      AB020337, AF064860, AW136254, DQ645737, KF457302
      Consensus CDS
      CCDS13667.1
      Related
      ENSP00000507453.1, ENST00000682542.1
      Conserved Domains (1) summary
      cl21608
      Location:71261
      Galactosyl_T; Galactosyltransferase
    4. NM_001356339.2NP_001343268.1  beta-1,3-galactosyltransferase 5 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) represents use of the alternate C promoter and contains an alternate 5' UTR compared to variant 1.
      Source sequence(s)
      AB020337, AF064860, AW136254, DQ645738, KF457302
      Consensus CDS
      CCDS13667.1
      Related
      ENSP00000343318.4, ENST00000343118.6
      Conserved Domains (1) summary
      cl21608
      Location:71261
      Galactosyl_T; Galactosyltransferase
    5. NM_006057.3NP_006048.1  beta-1,3-galactosyltransferase 5 isoform a

      See identical proteins and their annotated locations for NP_006048.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents use of a promoter derived from long terminal repeat (LTR) and encodes isoform a.
      Source sequence(s)
      AB020337, AF064860, AW136254, KF457302
      Consensus CDS
      CCDS13667.1
      UniProtKB/Swiss-Prot
      Q9Y2C3
      Related
      ENSP00000369992.1, ENST00000380618.5
      Conserved Domains (1) summary
      cl21608
      Location:71261
      Galactosyl_T; Galactosyltransferase
    6. NM_033170.3NP_149360.1  beta-1,3-galactosyltransferase 5 isoform a

      See identical proteins and their annotated locations for NP_149360.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents use of a promoter derived from long terminal repeat (LTR) and uses an alternate splice site in the 5' UTR, compared to variant 1.
      Source sequence(s)
      AB020337, AF064860, AW136254, KF457302
      Consensus CDS
      CCDS13667.1
      UniProtKB/Swiss-Prot
      Q9Y2C3
      Conserved Domains (1) summary
      cl21608
      Location:71261
      Galactosyl_T; Galactosyltransferase
    7. NM_033171.3NP_149361.1  beta-1,3-galactosyltransferase 5 isoform a

      See identical proteins and their annotated locations for NP_149361.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents use of a promoter derived from long terminal repeat (LTR) and contains an alternate exon in the 5' UTR, compared to variant 1.
      Source sequence(s)
      AB020337, AF064860, AW136254, KF457302
      Consensus CDS
      CCDS13667.1
      UniProtKB/Swiss-Prot
      Q9Y2C3
      Conserved Domains (1) summary
      cl21608
      Location:71261
      Galactosyl_T; Galactosyltransferase
    8. NM_033172.3NP_149362.2  beta-1,3-galactosyltransferase 5 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4)represents use of a promoter derived from long terminal repeat (LTR), but differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) has a longer N-terminus, compared to isoform a.
      Source sequence(s)
      AB020337, AF064860, AW136254, KF457302
      Consensus CDS
      CCDS74795.1
      UniProtKB/Swiss-Prot
      Q9Y2C3
      UniProtKB/TrEMBL
      A0A0A0MS93
      Conserved Domains (1) summary
      cl21608
      Location:75265
      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_000021.9 Reference GRCh38.p13 Primary Assembly

      Range
      39612940..39673137
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_033173.1: Suppressed sequence

      Description
      NM_033173.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
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