B3GAT1 Gene (Protein Coding)

Beta-1,3-Glucuronyltransferase 1

GC11M134378
GIFtS:
44
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... See more...

Aliases for B3GAT1 Gene

Aliases for B3GAT1 Gene

  • Beta-1,3-Glucuronyltransferase 1 2 3 4 5
  • Galactosylgalactosylxylosylprotein 3-Beta-Glucuronosyltransferase 1 2 3 4
  • Glucuronosyltransferase P 2 3 4
  • UDP-GlcUA:Glycoprotein Beta-1,3-Glucuronyltransferase 3 4
  • EC 2.4.1.135 4 51
  • GlcAT-P 2 4
  • GLCATP 3 4
  • NK-1 2 3
  • CD57 Antigen 2
  • LEU7 Antigen 3
  • GlcUAT-P 4
  • GLCUATP 3
  • B3GAT1 5
  • HNK-1 2
  • CD57 3
  • HNK1 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 Chronic Nk-Cell Lymphocytosis. Among its related pathways are heparan sulfate biosynthesis and Chondroitin sulfate/dermatan sulfate metabolism. Gene Ontology (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 Summary 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.

Gene Wiki entry for B3GAT1 Gene

Additional gene information for B3GAT1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for B3GAT1 Gene

Genomics for B3GAT1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for B3GAT1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH11J134409 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 264 +0.7 728 5 ZBTB10 ZIC2 SIN3A ZNF341 ZNF843 KLF9 SP2 GLI4 ZNF2 ZBTB48 B3GAT1 B3GAT1-DT lnc-THYN1-5 GLB1L2
GH11J134252 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 12.7 +158.9 158941 3.4 CHD2 TBP ZBTB10 SP1 MXD4 SIX5 NR2C1 MNT SMAD5 ETS1 ACAD8 THYN1 HSALNG0088371 lnc-NCAPD3-3 OPCML GLB1L3 B3GAT1 LINC02731 GLB1L2 NCAPD3
GH11J134384 Enhancer 0.8 Ensembl dbSUPER 22.5 +25.4 25442 1.6 ZSCAN16 ZNF843 GLIS1 GATA2 NFIB TRIM28 ZEB2 ZNF629 EGR2 ZBTB17 B3GAT1 GLB1L2 GLB1L3 HSALNG0088385 lnc-THYN1-5
GH11J134406 Enhancer 0.9 Ensembl ENCODE dbSUPER 11 +5.2 5242 2.4 ZNF341 RXRA FOXA2 ZNF316 JUND HNF4A FOXA1 RAD21 REST MAX B3GAT1 lnc-THYN1-5 HSALNG0088385 GLB1L2
GH11J134395 Enhancer 0.6 dbSUPER 15.7 +14.0 13960 4.9 BHLHE40 RXRA FOXA2 JUND HNF4A FOXA1 RAD21 REST GATA2 MAX B3GAT1 GLB1L3 GLB1L2 lnc-THYN1-5 HSALNG0088385
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around B3GAT1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for B3GAT1

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

Genomic Locations for B3GAT1 Gene

Latest Assembly
chr11:134,378,504-134,412,242
(GRCh38/hg38)
Size:
33,739 bases
Orientation:
Minus strand

Previous Assembly
chr11:134,248,398-134,282,136
(GRCh37/hg19 by Entrez Gene)
Size:
33,739 bases
Orientation:
Minus strand

chr11:134,248,398-134,281,812
(GRCh37/hg19 by Ensembl)
Size:
33,415 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 Structure • Gene Density

RefSeq DNA sequence for B3GAT1 Gene

Proteins for B3GAT1 Gene

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  1. Antibodies for research
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  3. Assay products for research

  • 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:
    • B7Z5Z8
    • 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. Interacts with SAR1A.

    Three dimensional structures from OCA and Proteopedia for B3GAT1 Gene

    Alternative splice isoforms for B3GAT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for B3GAT1 Gene

Protein Expression for B3GAT1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for B3GAT1 Gene

Q9P2W7:
  • HVPNLHW
  • TPTYSRPVQKAELTR
  • VWHTRTEK
  • RPFAIDMAGFAV
  • DAPRRTPLTARLLRDTGLNYTHLHVETPRNYKLRGDARDP
  • FADDDNTYSLELF
  • ELFEEMR

Post-translational modifications for B3GAT1 Gene

  • The soluble form derives from the membrane form by proteolytic processing.
  • Glycosylation at Asn140, Asn184, and Asn303
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • B3GA1_HUMAN (1254)

Other Protein References for B3GAT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for B3GAT1

Domains & Families for B3GAT1 Gene

Gene Families for B3GAT1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for B3GAT1 Gene

InterPro:
Blocks:
  • Glycosyl transferase, family 43
ProtoNet:

Suggested Antigen Peptide Sequences for B3GAT1 Gene

GenScript: Design optimal peptide antigens:
  • UDP-GlcUA:glycoprotein beta-1,3-glucuronyltransferase (B3GA1_HUMAN)

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

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  6. Cell Lines for research

Molecular function for B3GAT1 Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3-O-(beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl)-L-seryl-[protein] + UDP-alpha-D-glucuronate = 3-O-(beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:24168, Rhea:RHEA-COMP:12571, Rhea:RHEA-COMP:12573, ChEBI:CHEBI:15378, ChEBI:CHEBI:58052, ChEBI:CHEBI:58223, ChEBI:CHEBI:132090, ChEBI:CHEBI:132093; EC=2.4.1.135; Evidence={ECO:0000250|UniProtKB:O35789};.

Enzyme Numbers (IUBMB) for B3GAT1 Gene

Phenotypes From GWAS Catalog for B3GAT1 Gene

Gene Ontology (GO) - Molecular Function for B3GAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
GO:0015018 galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity IBA,ISS --
GO:0016740 transferase activity IEA --
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 Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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

[Isoform 1]: Golgi apparatus membrane. Single-pass type II membrane protein. Secreted.
[Isoform 2]: Golgi apparatus membrane. Single-pass type II membrane protein. Endoplasmic reticulum membrane. Secreted.

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 B3GAT1 gene
Compartment Confidence
golgi apparatus 5
extracellular 4
plasma membrane 2
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
mitochondrion 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for B3GAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005576 extracellular region IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane ISS --
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with B3GAT1: view

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.

Gene Ontology (GO) - Biological Process for B3GAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IBA 21873635
GO:0006486 protein glycosylation IEA --
GO:0030203 glycosaminoglycan metabolic process TAS --
GO:0050650 chondroitin sulfate proteoglycan biosynthetic process IBA 21873635
GO:0071456 cellular response to hypoxia IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 64
D-tartaric acid Experimental Pharma Target 0
Uridine 5'-diphosphate Experimental Pharma Target 0
Tartaric acid Experimental Pharma Enzyme, catalytic activity 0
UDP-alpha-D-glucuronic acid Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
LysoSM(d18:0)
  • Dihydrosphingosine-1-phosphocholine
  • Dihydrosphingosylphosphorylcholine
  • SM(D18:0/0:0)
  • Lysosphingomyelin
  • Sphinganine-1-phosphocholine
LysoSM(d18:1)
  • Sphing-4-enine-1-phosphocholine
  • Sphingosyl-phosphocholine
  • Sphingosylphosphocholine
  • C18-Sphingosine phosphocholine
  • D-Erythro-sphingosylphosphorylcholine
 1670-26-4
SM(d16:1/23:0)
  • SM d16:1/24:1(15Z)
  • SM(d16:1/24:1(15Z))
  • Sphingomyelin (d16:1,C24:1(15Z))
  • Sphingomyelin (d16:1/24:1(15Z))
  • SPH(d16:1/24:1(15Z))
 121999-69-7
SM(d17:1/24:0)
  • Sphingomyelin
  • N-(Tetracosanoyl)-1-phosphocholine-heptadecasphing-4-enine
  • Sphingomyelin(D17:1/24:0)
  • N-(Tetracosanoyl)-1-phosphocholine-heptadecasphingosine
  • N-(Tetracosanoyl)-1-phosphocholine-heptadecad-erythro-sphingosine
 122002-27-1
SM(d17:1/24:1(15Z))
  • SPH(D17:1/24:1(15Z))
  • Sphingomyelin (D17:1/24:1(15Z))
  • Sphingomyelin
  • N-(15Z-Tetracosenoyl)-1-phosphocholine-heptadecasphing-4-enine
  • Sphingomyelin(D17:1/24:1(15Z))
 2292199-43-8
genes like me logo Genes that share compounds with B3GAT1: view

Transcripts for B3GAT1 Gene

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mRNA/cDNA for B3GAT1 Gene

3 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for B3GAT1

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

Expression for B3GAT1 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for B3GAT1 Gene

mRNA expression in normal human tissues for B3GAT1 Gene
mRNA expression by BioGPS for B3GAT1 GenemRNA expression by GTEx 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



Protein tissue co-expression partners for B3GAT1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for B3GAT1

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.

Evidence on tissue expression from TISSUES for B3GAT1 Gene

  • Nervous system(4.8)
  • Blood(2.9)
  • Lymph node(2.6)
  • Spleen(2.6)
  • Bone marrow(2.4)
  • Kidney(2.1)
  • Intestine(2.1)
  • Liver(2)
genes like me logo Genes that share expression patterns with B3GAT1: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for B3GAT1 Gene

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 30 31
  • 98.8 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia B3GAT1 30 31
  • 92.02 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia B3GAT1 31
  • 91 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia B3GAT1 30 31
  • 88.69 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia B3gat1 30 17 31
  • 88.62 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia B3gat1 30
  • 88.52 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia B3GAT1 31
  • 71 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves B3GAT1 30 31
  • 79.64 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia B3GAT1 31
  • 83 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100037907 30
  • 71.96 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.8747 30
Zebrafish
(Danio rerio)
 Actinopterygii b3gat1a 30 31
  • 73.15 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta BcDNA:GH05057 32
  • 48 (a)
EG:EG0007.5 32
  • 44 (a)
GlcAT-I 31
  • 42 (a)
 ManyToMany
CG3881 32
  • 39 (a)
GlcAT-S 31
  • 24 (a)
 ManyToMany
GlcAT-P 31
  • 23 (a)
 ManyToMany
Worm
(Caenorhabditis elegans)
 Secernentea C47F8.4 32
  • 41 (a)
C54C8.5 32
  • 40 (a)
E03H4.12 32
  • 40 (a)
glct-1 31
  • 39 (a)
 ManyToMany
sqv-8 31 32
  • 36 (a)
 ManyToMany
glct-6 31
  • 35 (a)
 ManyToMany
glct-5 31
  • 35 (a)
 ManyToMany
glct-4 31
  • 35 (a)
 ManyToMany
T09E11.1 32
  • 35 (a)
glct-3 31
  • 34 (a)
 ManyToMany
glct-2 31
  • 32 (a)
 ManyToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.7425 31
  • 41 (a)
 ManyToMany
CSA.7081 31
  • 37 (a)
 ManyToMany
CSA.7080 31
  • 37 (a)
 ManyToMany
Species where no ortholog for B3GAT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for B3GAT1: view image

Paralogs for B3GAT1 Gene

Paralogs for B3GAT1 Gene

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

  • B3GA1_HUMAN
  • F5H0S0_HUMAN
genes like me logo Genes that share paralogs with B3GAT1: view

Variants for B3GAT1 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for B3GAT1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs115362398 Benign: not provided 134,382,947(-) G/A
NM_054025.3(B3GAT1):c.681C>T (p.Tyr227=) 		SYNONYMOUS
rs35434644 - p.Ala131Thr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for B3GAT1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv1304n100 CNV gain 25217958
dgv1305n100 CNV gain 25217958
dgv1306n100 CNV gain 25217958
dgv1307n100 CNV gain 25217958
dgv2206n54 CNV gain 21841781
dgv4e196 CNV duplication 17116639
esv22213 CNV gain 19812545
esv2760555 CNV gain+loss 21179565
esv3628169 CNV gain 21293372
esv3628170 CNV gain 21293372
nsv1042300 CNV loss 25217958
nsv1053071 CNV loss 25217958
nsv1150829 CNV insertion 26484159
nsv521581 CNV gain 19592680
nsv521623 CNV gain 19592680
nsv556608 CNV gain 21841781
nsv556611 CNV loss 21841781
nsv561 CNV insertion 18451855
nsv952768 CNV deletion 24416366

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)

Additional Variant Information for B3GAT1 Gene

Human Gene Mutation Database (HGMD)
B3GAT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
B3GAT1

SNP Genotyping and Copy Number Assays for research

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

Disorders for B3GAT1 Gene

MalaCards: The human disease database

(31) MalaCards diseases for B3GAT1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
renal adenoma
  • renal cell adenoma
chronic nk-cell lymphocytosis
  • nk-cell large granular lymphocyte lymphocytosis
epithelial predominant wilms' tumor
  • epithelial predominant kidney adenosarcoma
malignant glandular tumor of peripheral nerve sheath
  • glandular mpnst
hodgkin's lymphoma, lymphocytic-histiocytic predominance
  • hodgkin lymphoma, lymphocyte-rich
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for B3GAT1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 (The Journal of biological chemistry 2004) 3 4 23
  2. Cloning and chromosomal mapping of human glucuronyltransferase involved in biosynthesis of the HNK-1 carbohydrate epitope. (PMID: 10783264) Mitsumoto Y … Kawasaki T (Genomics 2000) 3 4 23
  3. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PMID: 19343046) Saito A … Kamatani N (Journal of human genetics 2009) 3 41
  4. 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
  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 CC … Kourtis AP (Journal of immunology (Baltimore, Md. : 1950) 2005) 3 23

ExternalLinks

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