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B3GLCT Gene(Protein Coding)

Beta 3-Glucosyltransferase

GCID:
GC13P031200
GIFtS:
41
Genes Participants
UDN Logo

Aliases for B3GLCT Gene

Aliases for B3GLCT Gene

  • Beta 3-Glucosyltransferase 2 3 4 5
  • Beta 1,3-Galactosyltransferase-Like 2 3
  • Beta-1,3-Glucosyltransferase 2 3
  • 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-3-Glycosyltransferase-Like 4
  • 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-glycosylation of TSR domain-containing proteins and O-linked glycosylation. An important paralog of this gene is C1GALT1.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for B3GLCT Gene

Genomics for B3GLCT Gene

Products:

  1. Regulatory Element

Regulatory Elements for B3GLCT Gene

Enhancers for B3GLCT Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13G031207 1.4 FANTOM5 Ensembl ENCODE 16.4 +9.2 9229 3.0 PKNOX1 INSM2 FEZF1 ZNF2 GLIS2 ZNF366 SCRT2 EGR2 ZNF680 OVOL3 B3GLCT HSPH1 TEX26 GC13P031280
GH13G031171 1 Ensembl ENCODE 21 -27.4 -27429 2.2 SOX13 FOXA2 SAP130 JUN CEBPG ZNF644 ZSCAN9 TEAD3 FOS HOMEZ B3GLCT HSPH1
GH13G031199 1.3 FANTOM5 ENCODE 13.1 +0.6 625 2.4 ARNT SIN3A GLIS2 ZNF143 ZNF207 FOS KLF13 ZNF263 REST ZNF592 HSPH1 B3GLCT GC13P031280
GH13G031159 1.4 ENCODE dbSUPER 9.8 -38.2 -38212 4.0 PKNOX1 FOXA2 CREB3L1 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF766 UBE2L5P B3GLCT HSPH1 LOC105370148 WDR95P
GH13G031214 0.5 Ensembl 15 +14.2 14165 0.2 SMARCA4 GLIS1 FEZF1 B3GLCT GC13P031280
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around B3GLCT on UCSC Golden Path with GeneCards custom track

Promoters for B3GLCT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000060747 364 1801 ARNT SIN3A GLIS2 ZNF143 ZNF207 FOS KLF13 ZNF263 REST ZNF592

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 Structure • Gene Density

RefSeq DNA sequence for B3GLCT Gene

Proteins for B3GLCT Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

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

HGNC:

Protein Domains for B3GLCT Gene

InterPro:
ProtoNet:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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

Gene Ontology (GO) - Molecular Function for B3GLCT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups TAS --
genes like me logo Genes that share ontologies with B3GLCT: view
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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for B3GLCT gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 2
peroxisome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for B3GLCT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with B3GLCT: view

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.

Gene Ontology (GO) - Biological Process for B3GLCT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006004 fucose metabolic process IEA --
GO:0006486 protein glycosylation IEA --
GO:0036066 protein O-linked fucosylation 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

Products:

  1. Drug

(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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for B3GLCT Gene

(5) REFSEQ mRNAs :
(88) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Products:

  1. Primer

NURSA nuclear receptor signaling pathways regulating expression of B3GLCT Gene:

B3GLCT

mRNA Expression by UniProt/SwissProt for B3GLCT Gene:

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

Evidence on tissue expression from TISSUES for B3GLCT Gene

  • Eye(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for B3GLCT Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tongue
  • tooth
Thorax:
  • breast
  • chest wall
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • liver
  • pancreas
Pelvis:
  • pelvis
  • penis
  • placenta
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae

Primer 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
chimpanzee
(Pan troglodytes)
 Mammalia B3GALTL 34 35
  • 99.4 (n)
dog
(Canis familiaris)
 Mammalia B3GALTL 34 35
  • 90.54 (n)
cow
(Bos Taurus)
 Mammalia B3GALTL 35
  • 88 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia B3galtl 34
  • 83.12 (n)
mouse
(Mus musculus)
 Mammalia B3galtl 34 35
  • 82.34 (n)
B3glct 16
oppossum
(Monodelphis domestica)
 Mammalia B3GALTL 35
  • 79 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia B3GALTL 35
  • 73 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves B3GALTL 34 35
  • 74.7 (n)
lizard
(Anolis carolinensis)
 Reptilia B3GALTL 35
  • 64 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia b3galtl 34
  • 66.11 (n)
zebrafish
(Danio rerio)
 Actinopterygii b3galtla 35
  • 68 (a)
 OneToMany
b3galtlb 34 35
  • 62.08 (n)
Dr.20640 34
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.2664 34
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP009562 34
  • 49.92 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG9109 34 35
  • 48.08 (n)
worm
(Caenorhabditis elegans)
 Secernentea ZC250.2 34 35
  • 48.24 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 47 (a)
 OneToOne
Species where no ortholog for B3GLCT was found in the sources mined by GeneCards:
  • 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
rs267606675 Pathogenic 31,317,679(+) GGGAG(A/G)AGGAG intron-variant, downstream-variant-500B, reference, missense
rs371904655 Pathogenic 31,317,565(+) TCTCA(A/C/G)TATCT intron-variant, splice-acceptor-variant
rs794727108 Pathogenic 31,317,568(+) CAGTA(-/TCTCCAGGCTCCAGCA)CTTGC intron-variant, nc-transcript-variant, reference, frameshift-variant
rs80338850 Pathogenic 31,247,104(+) AGTAC(A/G)TTTGT intron-variant
rs80338851 Pathogenic 31,269,278(+) ATGAG(A/G)TATGT splice-donor-variant

Structural Variations from Database of Genomic Variants (DGV) for B3GLCT Gene

Variant ID Type Subtype PubMed ID
esv1007096 CNV deletion 20482838
esv2751142 CNV gain 17911159
esv2761783 CNV gain 21179565
esv3306032 CNV mobile element insertion 20981092
esv3309449 CNV mobile element insertion 20981092
esv3421234 CNV insertion 20981092
esv3631692 CNV gain 21293372
esv3631693 CNV gain 21293372
esv3631694 CNV gain 21293372
nsv1043630 CNV gain 25217958
nsv1143727 CNV deletion 24896259
nsv478924 CNV novel sequence insertion 20440878
nsv528568 CNV gain 19592680
nsv561399 CNV gain 21841781
nsv561400 CNV gain 21841781
nsv64080 CNV deletion 16902084

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
B3GLCT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B3GLCT Gene

Disorders for B3GLCT Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
peters anomaly
  • peters-plus syndrome
corneal staphyloma
retinitis pigmentosa 42
  • rp42
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

B3GLT_HUMAN
  • Peters-plus syndrome (PPLS) [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 64
  2. 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 64
  3. Peters plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. (PMID: 16909395) Lesnik Oberstein S.A. … Hennekam R.C.M. (Am. J. Hum. Genet. 2006) 3 4 64
  4. 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 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for B3GLCT Gene

Sources for B3GLCT Gene

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