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

Gene ID: 145173, updated on 23-Nov-2021

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
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
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Genomic context

See B3GLCT in Genome Data Viewer
Location:
13q12.3
Exon count:
20
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (31199975..31332276)
105.20201022 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 LOC105370150 Neighboring gene uncharacterized LOC105370152 Neighboring gene relaxin family peptide receptor 2

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?

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
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
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_016875884.1

NCBI Reference Sequences (RefSeq)

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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 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

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