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Aliases for B3GLCT Gene

Aliases for B3GLCT Gene

  • Beta 3-Glucosyltransferase 2 3 4 5
  • Beta 1,3-Galactosyltransferase-Like 2 3
  • Beta-3-Glycosyltransferase-Like 3 4
  • Beta3Glc-T 3 4
  • B3GALTL 3 4
  • B3GTL 3 4
  • UDP-GAL:Beta-GlcNAc Beta-1,3-Galactosyltransferase-Like 3
  • Beta 3-Glycosyltransferase-Like 3
  • Beta-1,3-Glucosyltransferase 2
  • EC 2.4.1.- 4
  • B3Glc-T 3
  • Gal-T 3

External Ids for B3GLCT Gene

Previous HGNC Symbols for B3GLCT Gene

  • B3GALTL

Summaries for B3GLCT Gene

Entrez Gene Summary for B3GLCT Gene

  • 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]

GeneCards Summary for B3GLCT Gene

B3GLCT (Beta 3-Glucosyltransferase) is a Protein Coding gene. Diseases associated with B3GLCT include peters anomaly and corneal staphyloma. Among its related pathways are O-linked glycosylation and Transport to the Golgi and subsequent modification. An important paralog of this gene is C1GALT1C1.

UniProtKB/Swiss-Prot for B3GLCT Gene

  • O-glucosyltransferase that transfers glucose toward fucose with a beta-1,3 linkage. Specifically glucosylates O-linked fucosylglycan on TSP type-1 domains of proteins, thereby contributing to elongation of O-fucosylglycan.

Gene Wiki entry for B3GLCT Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for B3GLCT Gene

Genomics for B3GLCT Gene

Regulatory Elements for B3GLCT Gene

Promoters for B3GLCT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around B3GLCT on UCSC Golden Path with GeneCards custom track

Genomic Location for B3GLCT Gene

Chromosome:
13
Start:
31,199,936 bp from pter
End:
31,332,276 bp from pter
Size:
132,341 bases
Orientation:
Plus strand

Genomic View for B3GLCT Gene

Genes around B3GLCT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
B3GLCT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for B3GLCT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for B3GLCT Gene

Proteins for B3GLCT Gene

  • Protein details for B3GLCT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6Y288-B3GLT_HUMAN
    Recommended name:
    Beta-1,3-glucosyltransferase
    Protein Accession:
    Q6Y288
    Secondary Accessions:
    • A8K5F8
    • Q5W0H2
    • Q6NUI3

    Protein attributes for B3GLCT Gene

    Size:
    498 amino acids
    Molecular mass:
    56564 Da
    Quaternary structure:
    No Data Available

neXtProt entry for B3GLCT Gene

Proteomics data for B3GLCT Gene at MOPED

Post-translational modifications for B3GLCT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for B3GLCT Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for B3GLCT Gene

Domains & Families for B3GLCT Gene

Gene Families for B3GLCT Gene

Protein Domains for B3GLCT Gene

Suggested Antigen Peptide Sequences for B3GLCT Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6Y288

UniProtKB/Swiss-Prot:

B3GLT_HUMAN :
  • Belongs to the glycosyltransferase 31 family.
Family:
  • Belongs to the glycosyltransferase 31 family.
genes like me logo Genes that share domains with B3GLCT: view

Function for B3GLCT Gene

Molecular function for B3GLCT Gene

UniProtKB/Swiss-Prot Function:
O-glucosyltransferase that transfers glucose toward fucose with a beta-1,3 linkage. Specifically glucosylates O-linked fucosylglycan on TSP type-1 domains of proteins, thereby contributing to elongation of O-fucosylglycan.

Enzyme Numbers (IUBMB) for B3GLCT Gene

genes like me logo Genes that share phenotypes with B3GLCT: view

Human Phenotype Ontology for B3GLCT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for B3GLCT Gene

Localization for B3GLCT Gene

Subcellular locations from UniProtKB/Swiss-Prot for B3GLCT Gene

Endoplasmic reticulum membrane; Single-pass type II membrane protein.

Gene Ontology (GO) - Cellular Components for B3GLCT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with B3GLCT: view

No data available for Subcellular locations from COMPARTMENTS for B3GLCT Gene

Pathways & Interactions for B3GLCT Gene

genes like me logo Genes that share pathways with B3GLCT: view

UniProtKB/Swiss-Prot Q6Y288-B3GLT_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for B3GLCT Gene

Gene Ontology (GO) - Biological Process for B3GLCT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006493 protein O-linked glycosylation TAS --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with B3GLCT: view

No data available for SIGNOR curated interactions for B3GLCT Gene

Drugs & Compounds for B3GLCT Gene

(2) Drugs for B3GLCT Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for B3GLCT Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with B3GLCT: view

Transcripts for B3GLCT Gene

Alternative Splicing Database (ASD) splice patterns (SP) for B3GLCT Gene

No ASD Table

Relevant External Links for B3GLCT Gene

GeneLoc Exon Structure for
B3GLCT
ECgene alternative splicing isoforms for
B3GLCT

Expression for B3GLCT Gene

mRNA Expression by UniProt/SwissProt for B3GLCT Gene

Q6Y288-B3GLT_HUMAN
Tissue specificity: Widely expressed, with highest levels in testis and uterus.

In Situ Assay Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for B3GLCT Gene

Orthologs for B3GLCT Gene

This gene was present in the common ancestor of animals.

Orthologs for B3GLCT Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia B3GALTL 35
  • 90.54 (n)
  • 92.9 (a)
B3GALTL 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia B3galtl 35
  • 82.34 (n)
  • 84.87 (a)
B3glct 16
B3galtl 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia B3GALTL 35
  • 99.4 (n)
  • 99.2 (a)
B3GALTL 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia B3galtl 35
  • 83.12 (n)
  • 85.04 (a)
cow
(Bos Taurus)
Mammalia B3GALTL 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia B3GALTL 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia B3GALTL 36
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves B3GALTL 35
  • 74.7 (n)
  • 76.1 (a)
B3GALTL 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia B3GALTL 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia b3galtl 35
  • 66.11 (n)
  • 65.83 (a)
zebrafish
(Danio rerio)
Actinopterygii b3galtlb 35
  • 62.08 (n)
  • 60.72 (a)
Dr.20640 35
b3galtla 36
  • 68 (a)
OneToMany
b3galtlb 36
  • 58 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2664 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009562 35
  • 49.92 (n)
  • 46.19 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG9109 35
  • 48.08 (n)
  • 40.05 (a)
CG9109 36
  • 32 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ZC250.2 35
  • 48.24 (n)
  • 37.47 (a)
ZC250.2 36
  • 36 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 47 (a)
OneToOne
Species with no ortholog for B3GLCT:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for B3GLCT Gene

ENSEMBL:
Gene Tree for B3GLCT (if available)
TreeFam:
Gene Tree for B3GLCT (if available)

Paralogs for B3GLCT Gene

Paralogs for B3GLCT Gene

genes like me logo Genes that share paralogs with B3GLCT: view

Variants for B3GLCT Gene

Sequence variations from dbSNP and Humsavar for B3GLCT Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs1041073 - 31,317,609(-) AGGCT(C/T)GCCGG intron-variant, nc-transcript-variant, reference, missense
rs4057 -- 31,332,154(-) ACAAC(A/G)AGAGG utr-variant-3-prime
rs13080 -- 31,332,004(-) TAGTT(G/T)CAAGA utr-variant-3-prime
rs755870 -- 31,231,679(-) ACACT(A/G)CCCTG intron-variant
rs938082 -- 31,270,618(+) TGAGT(G/T)ACCTT intron-variant

Variation tolerance for B3GLCT Gene

Residual Variation Intolerance Score: 51.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.78; 33.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for B3GLCT Gene

HapMap Linkage Disequilibrium report
B3GLCT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for B3GLCT Gene

Disorders for B3GLCT Gene

MalaCards: The human disease database

(2) MalaCards diseases for B3GLCT Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
peters anomaly
  • peters-plus syndrome
corneal staphyloma
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

B3GLT_HUMAN
  • Peters-plus syndrome (PpS) [MIM:261540]: Autosomal recessive disorder characterized by anterior eye-chamber abnormalities, disproportionate short stature, developmental delay, characteristic craniofacial features, cleft lip and/or palate. {ECO:0000269 PubMed:16909395}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for B3GLCT

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
B3GLCT
genes like me logo Genes that share disorders with B3GLCT: view

No data available for Genatlas for B3GLCT Gene

Publications for B3GLCT Gene

  1. Molecular cloning and characterization of a novel human beta1,3- glucosyltransferase, which is localized at the endoplasmic reticulum and glucosylates O-linked fucosylglycan on thrombospondin type 1 repeat domain. (PMID: 16899492) Sato T. … Narimatsu H. (Glycobiology 2006) 2 3 4 67
  2. Identification and characterization of abeta1,3-glucosyltransferase that synthesizes the Glc-beta1,3-Fuc disaccharide on thrombospondin type 1 repeats. (PMID: 17032646) Kozma K. … Hofsteenge J. (J. Biol. Chem. 2006) 2 3
  3. A novel human glycosyltransferase: primary structure and characterization of the gene and transcripts. (PMID: 12943678) Heinonen T.Y.K. … Kainulainen H. (Biochem. Biophys. Res. Commun. 2003) 2 3
  4. Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism. (PMID: 25544610) Vasudevan D. … Haltiwanger R.S. (Curr. Biol. 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for B3GLCT Gene

Sources for B3GLCT Gene

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