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

    Gene ID: 145173, updated on 22-Sep-2022

    Summary

    Official Symbol
    B3GLCTprovided by HGNC
    Official Full Name
    beta 3-glucosyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:20207
    See related
    Ensembl:ENSG00000187676 MIM:610308; AllianceGenome:HGNC:20207
    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]
    Expression
    Ubiquitous expression in heart (RPKM 6.7), endometrium (RPKM 5.7) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See B3GLCT in Genome Data Viewer
    Location:
    13q12.3
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (31199975..31332276)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (30422990..30555445)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (31774112..31906413)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes 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 LOC124903148 Neighboring gene uncharacterized LOC105370150

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

    EBI GWAS Catalog

    Description
    Seven new loci associated with age-related macular degeneration.
    EBI GWAS Catalog

    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 acetylglucosaminyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables glycosyltransferase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    involved_in fucose metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein O-linked fucosylation TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    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
    NP_919299.3
    XP_006719831.1
    XP_011533238.1
    XP_011533240.1
    XP_047286066.1
    XP_047286067.1

    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_011732.2 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_194318.4NP_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
      Q6NUI3, Q6Y288
      Related
      ENSP00000343002.4, ENST00000343307.5
      Conserved Domains (1) summary
      cl21608
      Location:264467
      Galactosyl_T; Galactosyltransferase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011534936.2XP_011533238.1  beta-1,3-glucosyltransferase isoform X1

      Conserved Domains (1) summary
      cl21608
      Location:264427
      Galactosyl_T; Galactosyltransferase
    2. XM_047430111.1XP_047286067.1  beta-1,3-glucosyltransferase isoform X4

    3. XM_006719768.4XP_006719831.1  beta-1,3-glucosyltransferase isoform X2

      Conserved Domains (1) summary
      pfam02434
      Location:245448
      Fringe; Fringe-like
    4. XM_047430110.1XP_047286066.1  beta-1,3-glucosyltransferase isoform X3

    5. XM_011534938.3XP_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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      30422990..30555445
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)