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    B3GLCT beta 3-glucosyltransferase [ Homo sapiens (human) ]

    Gene ID: 145173, updated on 5-Nov-2017
    Official Symbol
    B3GLCTprovided by HGNC
    Official Full Name
    beta 3-glucosyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:20207
    See related
    Ensembl:ENSG00000187676 MIM:610308; Vega:OTTHUMG00000016688
    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
    B3GTL; Gal-T; B3GALTL; B3Glc-T; beta3Glc-T
    Summary
    The protein encoded by this gene is a beta-1,3-glucosyltransferase that transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins. The encoded protein is a type II membrane protein. Defects in this gene are a cause of Peters-plus syndrome (PPS).[provided by RefSeq, Mar 2009]
    Orthologs
    Location:
    13q12.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 13 NC_000013.11 (31199975..31332276)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (31774112..31906413)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene WD repeat domain 95, pseudogene Neighboring gene uncharacterized LOC105370148 Neighboring gene heat shock protein family H (Hsp110) member 1 Neighboring gene ankyrin repeat domain 26 pseudogene 4 Neighboring gene uncharacterized LOC105370149 Neighboring gene uncharacterized LOC105370150

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Peters plus syndrome
    MedGen: C0796012 OMIM: 261540 GeneReviews: Peters Plus Syndrome
    Compare labs

    NHGRI GWAS Catalog

    Description
    Seven new loci associated with age-related macular degeneration.
    NHGRI GWA Catalog
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • O-glycosylation of TSR domain-containing proteins, organism-specific biosystem (from REACTOME)
      O-glycosylation of TSR domain-containing proteins, organism-specific biosystemThe O-fucosylation of proteins containing thrombospondin type 1 repeat (TSR) domains is an important PTM, regulating many biological processes such as Notch signalling, inflammation, wound healing, a...
    • O-linked glycosylation, organism-specific biosystem (from REACTOME)
      O-linked glycosylation, organism-specific biosystemO-glycosylation is an important post-translational modification (PTM) required for correct functioning of many proteins (Van den Steen et al. 1998, Moremen et al. 2012). The O-glycosylation of protei...
    • Other types of O-glycan biosynthesis, organism-specific biosystem (from KEGG)
      Other types of O-glycan biosynthesis, organism-specific biosystemO-linked glycosylation is the attachment of monosaccharides to the hydroxyl groups of amino acids, mostly serine and threonine, and is found in eukaryotes, archaea and bacteria. O-glycans exhibit div...
    • Other types of O-glycan biosynthesis, conserved biosystem (from KEGG)
      Other types of O-glycan biosynthesis, conserved biosystemO-linked glycosylation is the attachment of monosaccharides to the hydroxyl groups of amino acids, mostly serine and threonine, and is found in eukaryotes, archaea and bacteria. O-glycans exhibit div...
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    transferase activity, transferring glycosyl groups TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    fucose metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    protein O-linked fucosylation TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    beta-1,3-glucosyltransferase
    Names
    UDP-GAL:beta-GlcNAc beta-1,3-galactosyltransferase-like
    beta 1,3-galactosyltransferase-like
    beta 3-glycosyltransferase-like

    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_011732.1 RefSeqGene

      Range
      5001..137302
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_194318.3NP_919299.3  beta-1,3-glucosyltransferase precursor

      See identical proteins and their annotated locations for NP_919299.3

      Status: REVIEWED

      Source sequence(s)
      AA769548, AB101481, AV728071, AY190526, DA290408, DN999521
      Consensus CDS
      CCDS9341.1
      UniProtKB/Swiss-Prot
      Q6Y288
      Related
      ENSP00000343002.4, OTTHUMP00000018218, ENST00000343307.4, OTTHUMT00000044396
      Conserved Domains (1) summary
      cl21608
      Location:264467
      Galactosyl_T; Galactosyltransferase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p7 Primary Assembly

      Range
      31199975..31332276
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017020395.1XP_016875884.1  beta-1,3-glucosyltransferase isoform X3

      Conserved Domains (1) summary
      cl21608
      Location:215418
      Galactosyl_T; Galactosyltransferase
    2. XM_011534936.1XP_011533238.1  beta-1,3-glucosyltransferase isoform X1

      Conserved Domains (1) summary
      cl21608
      Location:264427
      Galactosyl_T; Galactosyltransferase
    3. XM_006719768.3XP_006719831.1  beta-1,3-glucosyltransferase isoform X2

      Conserved Domains (1) summary
      pfam02434
      Location:245448
      Fringe; Fringe-like
    4. XM_011534938.2XP_011533240.1  beta-1,3-glucosyltransferase isoform X3

      See identical proteins and their annotated locations for XP_011533240.1

      Conserved Domains (1) summary
      cl21608
      Location:215418
      Galactosyl_T; Galactosyltransferase

    RNA

    1. XR_941500.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018924.2 Alternate CHM1_1.1

      Range
      31741727..31874040
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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