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Aliases for B3GAT1 Gene

Aliases for B3GAT1 Gene

  • Beta-1,3-Glucuronyltransferase 1 2 3 4 5
  • Glucuronosyltransferase P 2 3 4
  • UDP-GlcUA:Glycoprotein Beta-1,3-Glucuronyltransferase 3 4
  • EC 2.4.1.135 4 63
  • GlcUAT-P 3 4
  • GLCATP 3 4
  • Galactosylgalactosylxylosylprotein 3-Beta-Glucuronosyltransferase 1 2
  • CD57 Antigen 2
  • LEU7 Antigen 3
  • GLCUATP 3
  • GlcAT-P 4
  • HNK1 3
  • NK-1 3
  • CD57 3
  • LEU7 3
  • NK1 3

External Ids for B3GAT1 Gene

Previous HGNC Symbols for B3GAT1 Gene

  • CD57
  • LEU7

Previous GeneCards Identifiers for B3GAT1 Gene

  • GC11M136745
  • GC11M135763
  • GC11M134281
  • GC11M133786
  • GC11M133753
  • GC11M130203
  • GC11M134248

Summaries for B3GAT1 Gene

Entrez Gene Summary for B3GAT1 Gene

  • The protein encoded by this gene is a member of the glucuronyltransferase gene family. These enzymes exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product functions as the key enzyme in a glucuronyl transfer reaction during the biosynthesis of the carbohydrate epitope HNK-1 (human natural killer-1, also known as CD57 and LEU7). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]

GeneCards Summary for B3GAT1 Gene

B3GAT1 (Beta-1,3-Glucuronyltransferase 1) is a Protein Coding gene. Diseases associated with B3GAT1 include renal adenoma and malignant glandular tumor of peripheral nerve sheath. Among its related pathways are Metabolism and heparan sulfate biosynthesis. GO annotations related to this gene include UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity and galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity. An important paralog of this gene is B3GAT2.

UniProtKB/Swiss-Prot for B3GAT1 Gene

  • Involved in the biosynthesis of L2/HNK-1 carbohydrate epitope on glycoproteins. Can also play a role in glycosaminoglycan biosynthesis. Substrates include asialo-orosomucoid (ASOR), asialo-fetuin, and asialo-neural cell adhesion molecule. Requires sphingomyelin for activity: stearoyl-sphingomyelin was the most effective, followed by palmitoyl-sphingomyelin and lignoceroyl-sphingomyelin. Activity was demonstrated only for sphingomyelin with a saturated fatty acid and not for that with an unsaturated fatty acid, regardless of the length of the acyl group (By similarity).

Gene Wiki entry for B3GAT1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for B3GAT1 Gene

Genomics for B3GAT1 Gene

Regulatory Elements for B3GAT1 Gene

Promoters for B3GAT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around B3GAT1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the B3GAT1 gene promoter:

Genomic Location for B3GAT1 Gene

Chromosome:
11
Start:
134,378,504 bp from pter
End:
134,411,987 bp from pter
Size:
33,484 bases
Orientation:
Minus strand

Genomic View for B3GAT1 Gene

Genes around B3GAT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
B3GAT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for B3GAT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for B3GAT1 Gene

Proteins for B3GAT1 Gene

  • Protein details for B3GAT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2W7-B3GA1_HUMAN
    Recommended name:
    Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1
    Protein Accession:
    Q9P2W7
    Secondary Accessions:
    • Q96FS7

    Protein attributes for B3GAT1 Gene

    Size:
    334 amino acids
    Molecular mass:
    38256 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for B3GAT1 Gene

neXtProt entry for B3GAT1 Gene

Proteomics data for B3GAT1 Gene at MOPED

Post-translational modifications for B3GAT1 Gene

  • Glycosylation at Asn 140, Asn 184, and Asn 303
  • Modification sites at PhosphoSitePlus

Other Protein References for B3GAT1 Gene

Antibody Products

  • R&D Systems Antibodies for B3GAT1 ("beta-1,3-Glucuronyltransferase 1/B3GAT1")

Domains & Families for B3GAT1 Gene

Gene Families for B3GAT1 Gene

Protein Domains for B3GAT1 Gene

Suggested Antigen Peptide Sequences for B3GAT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9P2W7

UniProtKB/Swiss-Prot:

B3GA1_HUMAN :
  • Belongs to the glycosyltransferase 43 family.
Family:
  • Belongs to the glycosyltransferase 43 family.
genes like me logo Genes that share domains with B3GAT1: view

Function for B3GAT1 Gene

Molecular function for B3GAT1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
UDP-glucuronate + 3-beta-D-galactosyl-4-beta-D-galactosyl-O-beta-D-xylosylprotein = UDP + 3-beta-D-glucuronosyl-3-beta-D-galactosyl-4-beta-D-galactosyl-O-beta-D-xylosylprotein.
UniProtKB/Swiss-Prot Function:
Involved in the biosynthesis of L2/HNK-1 carbohydrate epitope on glycoproteins. Can also play a role in glycosaminoglycan biosynthesis. Substrates include asialo-orosomucoid (ASOR), asialo-fetuin, and asialo-neural cell adhesion molecule. Requires sphingomyelin for activity: stearoyl-sphingomyelin was the most effective, followed by palmitoyl-sphingomyelin and lignoceroyl-sphingomyelin. Activity was demonstrated only for sphingomyelin with a saturated fatty acid and not for that with an unsaturated fatty acid, regardless of the length of the acyl group (By similarity).

Enzyme Numbers (IUBMB) for B3GAT1 Gene

Gene Ontology (GO) - Molecular Function for B3GAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with B3GAT1: view
genes like me logo Genes that share phenotypes with B3GAT1: view

Animal Models for B3GAT1 Gene

MGI Knock Outs for B3GAT1:

Animal Model Products

CRISPR Products

miRNA for B3GAT1 Gene

miRTarBase miRNAs that target B3GAT1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for B3GAT1 Gene

Localization for B3GAT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for B3GAT1 Gene

Golgi apparatus membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for B3GAT1 Gene COMPARTMENTS Subcellular localization image for B3GAT1 gene
Compartment Confidence
golgi apparatus 5
extracellular 3
cytoskeleton 2
cytosol 2
nucleus 2
plasma membrane 2
endoplasmic reticulum 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for B3GAT1 Gene

Pathways & Interactions for B3GAT1 Gene

genes like me logo Genes that share pathways with B3GAT1: view

UniProtKB/Swiss-Prot Q9P2W7-B3GA1_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for B3GAT1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000307875%0d%0a9606.ENSP00000269886%0d%0a
Selected Interacting proteins: ENSP00000307875 for B3GAT1 Gene via STRING

Symbol External ID(s) Details
SH3GL1

Gene Ontology (GO) - Biological Process for B3GAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0030203 glycosaminoglycan metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with B3GAT1: view

No data available for SIGNOR curated interactions for B3GAT1 Gene

Drugs & Compounds for B3GAT1 Gene

(18) Drugs for B3GAT1 Gene - From: Novoseek, DrugBank, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
D-tartaric acid Experimental Pharma Target 0
Uridine-5'-Diphosphate Experimental Pharma Target 0
Manganese Pharma 32

(49) Additional Compounds for B3GAT1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
LysoSM(d18:0)
  • Lysosphingomyelin
  • SM(d18:0/0:0)
  • Sphinganine-1-phosphocholine
  • Sphingomyelin(d18:0/0:0)
LysoSM(d18:1)
  • C18-Sphingosine phosphocholine
  • D-Erythro-sphingosylphosphorylcholine
  • Lysosphingomyelin
  • SM(d18:1/0:0)
  • Sphing-4-enine-1-phosphocholine
1670-26-4
SM(d16:1/24:1(15Z))
  • SPH(d16:1/24:1(15Z))
  • Sphingomyelin (d16:1/24:1(15Z))
SM(d17:1/24:0)
  • SPH(d17:1/24:0)
  • Sphingomyelin (d17:1/24:0)
SM(d17:1/24:1(15Z))
  • SPH(d17:1/24:1(15Z))
  • Sphingomyelin (d17:1/24:1(15Z))
genes like me logo Genes that share compounds with B3GAT1: view

Transcripts for B3GAT1 Gene

Unigene Clusters for B3GAT1 Gene

Beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for B3GAT1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b
SP1:
SP2: -
SP3: - -
SP4:

Relevant External Links for B3GAT1 Gene

GeneLoc Exon Structure for
B3GAT1
ECgene alternative splicing isoforms for
B3GAT1

Expression for B3GAT1 Gene

mRNA expression in normal human tissues for B3GAT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for B3GAT1 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x6.3), Brain - Hippocampus (x6.2), Brain - Amygdala (x5.7), Brain - Cortex (x5.7), Brain - Anterior cingulate cortex (BA24) (x4.8), and Brain - Frontal Cortex (BA9) (x4.4).

Protein differential expression in normal tissues from HIPED for B3GAT1 Gene

This gene is overexpressed in Plasma (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for B3GAT1 Gene



SOURCE GeneReport for Unigene cluster for B3GAT1 Gene Hs.381050

mRNA Expression by UniProt/SwissProt for B3GAT1 Gene

Q9P2W7-B3GA1_HUMAN
Tissue specificity: Mainly expressed in the brain.
genes like me logo Genes that share expression patterns with B3GAT1: view

Protein tissue co-expression partners for B3GAT1 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for B3GAT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for B3GAT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia B3GAT1 36
  • 99 (a)
OneToOne
B3GAT1 35
  • 98.8 (n)
  • 98.49 (a)
cow
(Bos Taurus)
Mammalia B3GAT1 35
  • 88.69 (n)
  • 92.19 (a)
B3GAT1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia B3GAT1 36
  • 80 (a)
OneToOne
B3GAT1 35
  • 92.02 (n)
  • 96.41 (a)
mouse
(Mus musculus)
Mammalia B3gat1 36
  • 99 (a)
OneToOne
B3gat1 16
B3gat1 35
  • 88.62 (n)
  • 98.5 (a)
oppossum
(Monodelphis domestica)
Mammalia B3GAT1 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia B3GAT1 36
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia B3gat1 35
  • 88.52 (n)
  • 98.5 (a)
chicken
(Gallus gallus)
Aves B3GAT1 35
  • 79.64 (n)
  • 90.42 (a)
B3GAT1 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia B3GAT1 36
  • 83 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.8747 35
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100037907 35
  • 71.96 (n)
  • 86.23 (a)
zebrafish
(Danio rerio)
Actinopterygii b3gat1a 36
  • 86 (a)
OneToOne
b3gat1a 35
  • 73.15 (n)
  • 86.23 (a)
fruit fly
(Drosophila melanogaster)
Insecta BcDNA:GH05057 37
  • 48 (a)
CG3881 37
  • 39 (a)
EG:EG0007.5 37
  • 44 (a)
GlcAT-I 36
  • 42 (a)
ManyToMany
GlcAT-P 36
  • 23 (a)
ManyToMany
GlcAT-S 36
  • 24 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea C47F8.4 37
  • 41 (a)
C54C8.5 37
  • 40 (a)
E03H4.12 37
  • 40 (a)
sqv-8 37
  • 46 (a)
T09E11.1 37
  • 35 (a)
glct-1 36
  • 39 (a)
ManyToMany
glct-2 36
  • 32 (a)
ManyToMany
glct-3 36
  • 34 (a)
ManyToMany
glct-4 36
  • 35 (a)
ManyToMany
glct-5 36
  • 35 (a)
ManyToMany
glct-6 36
  • 35 (a)
ManyToMany
sqv-8 36
  • 36 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7080 36
  • 37 (a)
ManyToMany
CSA.7081 36
  • 37 (a)
ManyToMany
CSA.7425 36
  • 41 (a)
ManyToMany
Species with no ortholog for B3GAT1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 B3GAT1 Gene

ENSEMBL:
Gene Tree for B3GAT1 (if available)
TreeFam:
Gene Tree for B3GAT1 (if available)

Paralogs for B3GAT1 Gene

Paralogs for B3GAT1 Gene

(3) SIMAP similar genes for B3GAT1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with B3GAT1: view

Variants for B3GAT1 Gene

Sequence variations from dbSNP and Humsavar for B3GAT1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs35434644 - 134,383,910(+) GCGCG(C/T)GGTCA reference, missense
rs729687 -- 134,381,883(+) GGTGC(A/C/T)GCCCT intron-variant
rs1078938 -- 134,405,852(-) GGTGC(C/T)GGACA intron-variant
rs1866767 -- 134,404,869(-) CTCAC(A/G)GTCAG intron-variant
rs1866768 -- 134,404,816(-) TCGCC(C/T)GTCGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for B3GAT1 Gene

Variant ID Type Subtype PubMed ID
nsv521581 CNV Gain 19592680
nsv898475 CNV Gain 21882294
dgv4e196 CNV Duplication 17116639
nsv521623 CNV Gain 19592680
nsv898491 CNV Gain 21882294
dgv1328n71 CNV Loss 21882294
nsv561 CNV Insertion 18451855
nsv898495 CNV Loss 21882294
nsv898496 CNV Loss 21882294
nsv898497 CNV Loss 21882294
esv22213 CNV Gain 19812545

Variation tolerance for B3GAT1 Gene

Residual Variation Intolerance Score: 19.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.88; 59.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for B3GAT1 Gene

HapMap Linkage Disequilibrium report
B3GAT1
Human Gene Mutation Database (HGMD)
B3GAT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B3GAT1 Gene

Disorders for B3GAT1 Gene

MalaCards: The human disease database

(25) MalaCards diseases for B3GAT1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
renal adenoma
  • renal cell adenoma
malignant glandular tumor of peripheral nerve sheath
  • glandular mpnst
chronic nk-cell lymphocytosis
  • nk-cell large granular lymphocyte lymphocytosis
natural killer cell leukemia
  • aggressive nk-cell leukemia
lymphocytic gastritis
  • lymphocytic gastritis [ambiguous]
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for B3GAT1

Genetic Association Database (GAD)
B3GAT1
Human Genome Epidemiology (HuGE) Navigator
B3GAT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
B3GAT1
genes like me logo Genes that share disorders with B3GAT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for B3GAT1 Gene

Publications for B3GAT1 Gene

  1. Structural basis for acceptor substrate recognition of a human glucuronyltransferase, GlcAT-P, an enzyme critical in the biosynthesis of the carbohydrate epitope HNK-1. (PMID: 14993226) Kakuda S. … Kato R. (J. Biol. Chem. 2004) 3 4 23 67
  2. Molecular basis for acceptor substrate specificity of the human beta1,3-glucuronosyltransferases GlcAT-I and GlcAT-P involved in glycosaminoglycan and HNK-1 carbohydrate epitope biosynthesis, respectively. (PMID: 17567734) Fondeur-Gelinotte M. … Fournel-Gigleux S. (Glycobiology 2007) 3 23
  3. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  4. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26
  5. Expression of killer cell lectin-like receptor G1 on antigen-specific human CD8+ T lymphocytes during active, latent, and resolved infection and its relation with CD57. (PMID: 15879103) Ibegbu C.C. … Kourtis A.P. (J. Immunol. 2005) 3 23

Products for B3GAT1 Gene

Sources for B3GAT1 Gene

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