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

Gene ID: 145173, updated on 10-Dec-2024

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
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Genomic context

See B3GLCT in Genome Data Viewer
Location:
13q12.3
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (31199975..31332276)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (30422990..30555445)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (31774112..31906413)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:31735135-31735680 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:31735681-31736226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7551 Neighboring gene uncharacterized LOC105370148 Neighboring gene heat shock protein family H (Hsp110) member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5239 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5240 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5241 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:31783127-31783654 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:31876110-31876722 Neighboring gene ankyrin repeat domain 26 pseudogene 4 Neighboring gene uncharacterized LOC124903148 Neighboring gene uncharacterized LOC105370150 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5242

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

General gene information

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in brain development  
involved_in camera-type eye development  
involved_in cilium assembly  
involved_in cranial skeletal system development  
involved_in fucose metabolic process  
involved_in gene expression  
involved_in limb development  
involved_in protein O-linked fucosylation  
involved_in protein secretion  
involved_in roof of mouth development  
involved_in skeletal system development  
Component Evidence Code Pubs
located_in endoplasmic reticulum membrane  

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
XP_054230103.1
XP_054230104.1
XP_054230105.1
XP_054230106.1
XP_054230107.1

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
    A8K5F8, Q5W0H2, Q6NUI3, Q6Y288
    Related
    ENSP00000343002.4, ENST00000343307.5
    Conserved Domains (1) summary
    cl21608
    Location:264467
    Galactosyl_T; Galactosyltransferase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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)

mRNA and Protein(s)

  1. XM_054374128.1XP_054230103.1  beta-1,3-glucosyltransferase isoform X1

  2. XM_054374132.1XP_054230107.1  beta-1,3-glucosyltransferase isoform X4

  3. XM_054374129.1XP_054230104.1  beta-1,3-glucosyltransferase isoform X2

  4. XM_054374130.1XP_054230105.1  beta-1,3-glucosyltransferase isoform X3

  5. XM_054374131.1XP_054230106.1  beta-1,3-glucosyltransferase isoform X3

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