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

Gene ID: 145173, updated on 2-Nov-2024

Summary

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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

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Loss of the AMD-associated B3GLCT gene affects glycosylation of TSP1 without impairing secretion in retinal pigment epithelial cells.
    Title: Loss of the AMD-associated B3GLCT gene affects glycosylation of TSP1 without impairing secretion in retinal pigment epithelial cells.
  2. Peters plus syndrome mutations affect the function and stability of human beta1,3-glucosyltransferase.
    Title: Peters plus syndrome mutations affect the function and stability of human β1,3-glucosyltransferase.
  3. Peters plus syndrome and Chorioretinal findings associated with B3GLCT gene mutation - a case report.
    Title: Peters plus syndrome and Chorioretinal findings associated with B3GLCT gene mutation - a case report.
  4. Studies indicate that Peters Plus syndrome is caused by mutations in beta 3-glucosyltransferase (B3GALTL).
    Title: Clinical utility gene card for: Peters plus syndrome.
  5. POFUT2 and B3GLCT mediate a noncanonical endoplasmic reticulum quality-control mechanism that recognizes folded thrombospondin type 1 repeats and stabilizes them by glycosylation.
    Title: Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism.
  6. Mutations in the coding region of B3GALTL were identified in nine patients; six had a documented phenotype of classic Peters plus syndrome (PPS) and the remaining three had a clinical diagnosis of PPS with incomplete clinical documentation.
    Title: Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.
  7. a novel c.597-2 A>G splicing mutation within the B3GALTL gene in typical Peters-plus syndrome
    Title: First functional analysis of a novel splicing mutation in the B3GALTL gene by an ex vivo approach in Tunisian patients with typical Peters plus syndrome.
  8. A novel homozygous c.597-2A>G mutation was identified in both patients with Peters plus syndrome harbouring a novel splice site mutation in the B3GALTL gene
    Title: Two Tunisian patients with Peters plus syndrome harbouring a novel splice site mutation in the B3GALTL gene that modulates the mRNA secondary structure.
  9. Vertebral defects in a patient with Peters plus syndrome and mutations in B3GALTL.
    Title: Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL.
  10. The present report confirms the wide clinical spectrum of Peters plus syndrome, underlines the major clinical criteria of the syndrome and the major implication of B3GALTL gene in this condition.
    Title: A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly.
Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Peters plus syndrome
MedGen: C0796012 OMIM: 261540 GeneReviews: Peters Plus Syndrome
not available

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables acetylglucosaminyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables glycosyltransferase activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in brain development IEA
Inferred from Electronic Annotation
more info
  
involved_in camera-type eye development IEA
Inferred from Electronic Annotation
more info
  
involved_in cilium assembly IEA
Inferred from Electronic Annotation
more info
  
involved_in cranial skeletal system development IEA
Inferred from Electronic Annotation
more info
  
involved_in fucose metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in gene expression IEA
Inferred from Electronic Annotation
more info
  
involved_in limb development IEA
Inferred from Electronic Annotation
more info
  
involved_in protein O-linked fucosylation TAS
Traceable Author Statement
more info
  
involved_in protein secretion IEA
Inferred from Electronic Annotation
more info
  
involved_in roof of mouth development IEA
Inferred from Electronic Annotation
more info
  
involved_in skeletal system development IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  

General protein information

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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_194318.4 → NP_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:264 → 467
    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_011534936.2 → XP_011533238.1  beta-1,3-glucosyltransferase isoform X1

    Conserved Domains (1) summary
    cl21608
    Location:264 → 427
    Galactosyl_T; Galactosyltransferase

  2. XM_047430111.1 → XP_047286067.1  beta-1,3-glucosyltransferase isoform X4

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

    Conserved Domains (1) summary
    pfam02434
    Location:245 → 448
    Fringe; Fringe-like

  4. XM_047430110.1 → XP_047286066.1  beta-1,3-glucosyltransferase isoform X3

  5. XM_011534938.3 → XP_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:215 → 418
    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_054374128.1 → XP_054230103.1  beta-1,3-glucosyltransferase isoform X1

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

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

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

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

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6Y288.2 GenPept UniProtKB/Swiss-Prot:Q6Y288

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