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Aliases for B3GALTL Gene

Aliases for B3GALTL Gene

  • Beta 1,3-Galactosyltransferase-Like 2 3
  • B3GTL 3 4 6
  • Beta-3-Glycosyltransferase-Like 3 4
  • Beta3Glc-T 3 4
  • B3GLCT 3 6
  • UDP-GAL:Beta-GlcNAc Beta-1,3-Galactosyltransferase-Like 3
  • Beta 3-Glycosyltransferase-Like 3
  • Beta-1,3-Glucosyltransferase 3
  • EC 2.4.1.- 4
  • B3Glc-T 3
  • Gal-T 3

External Ids for B3GALTL Gene

Summaries for B3GALTL Gene

Entrez Gene Summary for B3GALTL 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 B3GALTL Gene

B3GALTL (Beta 1,3-Galactosyltransferase-Like) is a Protein Coding gene. Diseases associated with B3GALTL include peters anomaly. Among its related pathways are Other types of O-glycan biosynthesis. GO annotations related to this gene include transferase activity, transferring glycosyl groups.

UniProtKB/Swiss-Prot for B3GALTL Gene

  • O-fucosyltransferase 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 B3GALTL Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for B3GALTL Gene

Genomics for B3GALTL Gene

Genomic Location for B3GALTL Gene

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

Genomic View for B3GALTL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for B3GALTL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for B3GALTL Gene

Regulatory Elements for B3GALTL Gene

Proteins for B3GALTL Gene

  • Protein details for B3GALTL 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 B3GALTL Gene

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

neXtProt entry for B3GALTL Gene

Proteomics data for B3GALTL Gene at MOPED

Post-translational modifications for B3GALTL Gene

Other Protein References for B3GALTL Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for B3GALTL Gene

Domains for B3GALTL Gene

Gene Families for B3GALTL Gene

HGNC:
  • B3GT :Beta 3-glycosyltransferases

Protein Domains for B3GALTL Gene

UniProtKB/Swiss-Prot:

B3GLT_HUMAN
Family:
  • Belongs to the glycosyltransferase 31 family.:
    • Q6Y288
genes like me logo Genes that share domains with B3GALTL: view

Function for B3GALTL Gene

Molecular function for B3GALTL Gene

UniProtKB/Swiss-Prot Function: O-fucosyltransferase 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 B3GALTL Gene

Gene Ontology (GO) - Molecular Function for B3GALTL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with B3GALTL: view

No data available for Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for B3GALTL Gene

Localization for B3GALTL Gene

Subcellular locations from UniProtKB/Swiss-Prot for B3GALTL Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for B3GALTL Gene COMPARTMENTS Subcellular localization image for B3GALTL gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 2
cytosol 1
golgi apparatus 1
lysosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for B3GALTL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with B3GALTL: view

Pathways for B3GALTL Gene

genes like me logo Genes that share pathways with B3GALTL: view

Pathways by source for B3GALTL Gene

1 KEGG pathway for B3GALTL Gene

UniProtKB/Swiss-Prot Q6Y288-B3GLT_HUMAN

  • Pathway: Protein modification; protein glycosylation

Interacting Proteins for B3GALTL Gene

Gene Ontology (GO) - Biological Process for B3GALTL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006004 fucose metabolic process IEA --
GO:0006486 protein glycosylation --
GO:0006493 protein O-linked glycosylation TAS --
GO:0036066 protein O-linked fucosylation TAS --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with B3GALTL: view

Compounds for B3GALTL Gene

(4) Novoseek inferred chemical compound relationships for B3GALTL Gene

Compound -log(P) Hits PubMed IDs
nocodazole 56.6 2
monensin 55.7 6
n-acetylglucosamine 48.2 2
polysaccharide 22.1 1
genes like me logo Genes that share compounds with B3GALTL: view

Transcripts for B3GALTL Gene

Unigene Clusters for B3GALTL Gene

Beta 1,3-galactosyltransferase-like:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for B3GALTL Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21
SP1: - - - - - - -
SP2: -
SP3: - - - -

Relevant External Links for B3GALTL Gene

GeneLoc Exon Structure for
B3GALTL
ECgene alternative splicing isoforms for
B3GALTL

Expression for B3GALTL Gene

mRNA expression in normal human tissues for B3GALTL Gene

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for B3GALTL Gene

SOURCE GeneReport for Unigene cluster for B3GALTL Gene Hs.13205

mRNA Expression by UniProt/SwissProt for B3GALTL Gene

Q6Y288-B3GLT_HUMAN
Tissue specificity: Widely expressed, with highest levels in testis and uterus.
genes like me logo Genes that share expressions with B3GALTL: view

Orthologs for B3GALTL Gene

This gene was present in the common ancestor of animals.

Orthologs for B3GALTL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia B3GALTL 36
  • 99.4 (n)
  • 99.2 (a)
B3GALTL 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia B3GALTL 37
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia B3GALTL 36
  • 90.54 (n)
  • 92.9 (a)
B3GALTL 37
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia B3galtl 36
  • 82.34 (n)
  • 84.87 (a)
B3galtl 16
B3galtl 37
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia B3GALTL 37
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia B3GALTL 37
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia B3galtl 36
  • 83.12 (n)
  • 85.04 (a)
chicken
(Gallus gallus)
Aves B3GALTL 36
  • 74.7 (n)
  • 76.1 (a)
B3GALTL 37
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia B3GALTL 37
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia b3galtl 36
  • 66.11 (n)
  • 65.83 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2664 36
zebrafish
(Danio rerio)
Actinopterygii b3galtla 37
  • 68 (a)
OneToMany
b3galtlb 36
  • 62.08 (n)
  • 60.72 (a)
b3galtlb 37
  • 58 (a)
OneToMany
Dr.20640 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009562 36
  • 49.92 (n)
  • 46.19 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG9109 36
  • 48.08 (n)
  • 40.05 (a)
CG9109 37
  • 32 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ZC250.2 36
  • 48.24 (n)
  • 37.47 (a)
ZC250.2 37
  • 36 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 47 (a)
OneToOne
Species with no ortholog for B3GALTL:
  • 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 B3GALTL Gene

ENSEMBL:
Gene Tree for B3GALTL (if available)
TreeFam:
Gene Tree for B3GALTL (if available)

Paralogs for B3GALTL Gene

No data available for Paralogs for B3GALTL Gene

Variants for B3GALTL Gene

Sequence variations from dbSNP and Humsavar for B3GALTL Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type MAF
rs4057 -- 31,332,154(-) ACAAC(A/G)AGAGG utr-variant-3-prime
rs13080 -- 31,332,004(-) TAGTT(G/T)CAAGA utr-variant-3-prime
rs728930 -- 31,274,686(-) CATTA(C/T)GCACA intron-variant
rs755870 -- 31,231,679(-) ACACT(A/G)CCCTG intron-variant
rs767786 -- 31,277,107(+) GCGCA(C/G)TCTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for B3GALTL Gene

Variant ID Type Subtype PubMed ID
esv2751142 CNV Gain 17911159
nsv528568 CNV Gain 19592680
nsv899963 CNV Loss 21882294
nsv899964 CNV Loss 21882294
esv1007096 CNV Deletion 20482838
nsv899965 CNV Gain 21882294
nsv64080 CNV Loss 16902084
nsv899966 CNV Gain 21882294
esv270309 CNV Insertion 20981092
esv273721 CNV Insertion 20981092

Relevant External Links for B3GALTL Gene

HapMap Linkage Disequilibrium report
B3GALTL
Human Gene Mutation Database (HGMD)
B3GALTL
Locus Specific Mutation Databases (LSDB)
B3GALTL

Disorders for B3GALTL Gene

(1) OMIM Diseases for B3GALTL Gene (610308)

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.

(1) MalaCards Diseases for B3GALTL Gene

Search for B3GALTL Gene in MalaCards »

(2) University of Copenhagen DISEASES for B3GALTL Gene

(1) Novoseek inferred disease relationships for B3GALTL Gene

Disease -log(P) Hits PubMed IDs
tumors 0 2

Relevant External Links for B3GALTL

GeneTests
B3GALTL
GeneReviews
B3GALTL
Genetic Association Database (GAD)
B3GALTL
Human Genome Epidemiology (HuGE) Navigator
B3GALTL
genes like me logo Genes that share disorders with B3GALTL: view

Publications for B3GALTL 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
  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
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A. … Ross M.T. (Nature 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for B3GALTL Gene

Sources for B3GALTL Gene

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