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

    Gene ID: 145173, updated on 27-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
    mouse all
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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
    • 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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    Related articles in PubMed

    1. Clinical utility gene card for: Peters plus syndrome. Jaeken J, et al. Eur J Hum Genet, 2016 Aug. PMID 27049305, Free PMC Article
    2. Peters Plus Syndrome. Adam MP, et al. , 1993. PMID 20301637
    3. A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly. Aliferis K, et al. Ophthalmic Genet, 2010 Dec. PMID 21067481
    4. Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL. Faletra F, et al. Ophthalmic Genet, 2011 Nov. PMID 21671750
    5. Novel B3GALTL mutation in Peters-plus Syndrome. Dassie-Ajdid J, et al. Clin Genet, 2009 Nov. PMID 19796186

    See all (38) citations in PubMed

    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
    		Compare labs

    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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