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B3GAT1 (beta-1,3-glucuronyltransferase 1)

Identity

Alias_namesCD57
LEU7
CD57 antigen
Alias_symbol (synonym)GlcAT-P
HNK-1
NK-1
Other aliasGLCATP
GLCUATP
HNK1
NK1
HGNC (Hugo) B3GAT1
LocusID (NCBI) 27087
Atlas_Id 45625
Location 11q25  [Link to chromosome band 11q25]
Location_base_pair Starts at 134378504 and ends at 134411918 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
EFHC1 (6p12.2) / B3GAT1 (11q25)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)B3GAT1   921
Cards
Entrez_Gene (NCBI)B3GAT1  27087  beta-1,3-glucuronyltransferase 1
AliasesCD57; GLCATP; GLCUATP; HNK1; 
LEU7; NK-1; NK1
GeneCards (Weizmann)B3GAT1
Ensembl hg19 (Hinxton)ENSG00000109956 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000109956 [Gene_View]  ENSG00000109956 [Sequence]  chr11:134378504-134411918 [Contig_View]  B3GAT1 [Vega]
ICGC DataPortalENSG00000109956
TCGA cBioPortalB3GAT1
AceView (NCBI)B3GAT1
Genatlas (Paris)B3GAT1
WikiGenes27087
SOURCE (Princeton)B3GAT1
Genetics Home Reference (NIH)B3GAT1
Genomic and cartography
GoldenPath hg38 (UCSC)B3GAT1  -     chr11:134378504-134411918 -  11q25   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)B3GAT1  -     11q25   [Description]    (hg19-Feb_2009)
GoldenPathB3GAT1 - 11q25 [CytoView hg19]  B3GAT1 - 11q25 [CytoView hg38]
ImmunoBaseENSG00000109956
Mapping of homologs : NCBIB3GAT1 [Mapview hg19]  B3GAT1 [Mapview hg38]
OMIM151290   
Gene and transcription
Genbank (Entrez)AB029396 AF131769 AI929010 AK299637 AL834455
RefSeq transcript (Entrez)NM_001367973 NM_018644 NM_054025
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)B3GAT1
Cluster EST : UnigeneHs.381050 [ NCBI ]
CGAP (NCI)Hs.381050
Alternative Splicing GalleryENSG00000109956
Gene ExpressionB3GAT1 [ NCBI-GEO ]   B3GAT1 [ EBI - ARRAY_EXPRESS ]   B3GAT1 [ SEEK ]   B3GAT1 [ MEM ]
Gene Expression Viewer (FireBrowse)B3GAT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27087
GTEX Portal (Tissue expression)B3GAT1
Human Protein AtlasENSG00000109956-B3GAT1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9P2W7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9P2W7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9P2W7
Splice isoforms : SwissVarQ9P2W7
Catalytic activity : Enzyme2.4.1.135 [ Enzyme-Expasy ]   2.4.1.1352.4.1.135 [ IntEnz-EBI ]   2.4.1.135 [ BRENDA ]   2.4.1.135 [ KEGG ]   
PhosPhoSitePlusQ9P2W7
Domains : Interpro (EBI)Glyco_trans_43    Nucleotide-diphossugar_trans   
Domain families : Pfam (Sanger)Glyco_transf_43 (PF03360)   
Domain families : Pfam (NCBI)pfam03360   
Conserved Domain (NCBI)B3GAT1
DMDM Disease mutations27087
Blocks (Seattle)B3GAT1
PDB (RSDB)1V82    1V83    1V84   
PDB Europe1V82    1V83    1V84   
PDB (PDBSum)1V82    1V83    1V84   
PDB (IMB)1V82    1V83    1V84   
Structural Biology KnowledgeBase1V82    1V83    1V84   
SCOP (Structural Classification of Proteins)1V82    1V83    1V84   
CATH (Classification of proteins structures)1V82    1V83    1V84   
SuperfamilyQ9P2W7
Human Protein Atlas [tissue]ENSG00000109956-B3GAT1 [tissue]
Peptide AtlasQ9P2W7
HPRD06969
IPIIPI01013111   IPI00002585   
Protein Interaction databases
DIP (DOE-UCLA)Q9P2W7
IntAct (EBI)Q9P2W7
FunCoupENSG00000109956
BioGRIDB3GAT1
STRING (EMBL)B3GAT1
ZODIACB3GAT1
Ontologies - Pathways
QuickGOQ9P2W7
Ontology : AmiGOGolgi membrane  Golgi membrane  Golgi membrane  extracellular region  endoplasmic reticulum membrane  carbohydrate metabolic process  protein glycosylation  UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity  galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity  galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity  integral component of membrane  glycosaminoglycan metabolic process  intracellular membrane-bounded organelle  metal ion binding  chondroitin sulfate proteoglycan biosynthetic process  cellular response to hypoxia  
Ontology : EGO-EBIGolgi membrane  Golgi membrane  Golgi membrane  extracellular region  endoplasmic reticulum membrane  carbohydrate metabolic process  protein glycosylation  UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity  galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity  galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity  integral component of membrane  glycosaminoglycan metabolic process  intracellular membrane-bounded organelle  metal ion binding  chondroitin sulfate proteoglycan biosynthetic process  cellular response to hypoxia  
Pathways : KEGGOther types of O-glycan biosynthesis   
NDEx NetworkB3GAT1
Atlas of Cancer Signalling NetworkB3GAT1
Wikipedia pathwaysB3GAT1
Orthology - Evolution
OrthoDB27087
GeneTree (enSembl)ENSG00000109956
Phylogenetic Trees/Animal Genes : TreeFamB3GAT1
HOGENOMQ9P2W7
Homologs : HomoloGeneB3GAT1
Homology/Alignments : Family Browser (UCSC)B3GAT1
Gene fusions - Rearrangements
Fusion : QuiverB3GAT1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerB3GAT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)B3GAT1
dbVarB3GAT1
ClinVarB3GAT1
1000_GenomesB3GAT1 
Exome Variant ServerB3GAT1
ExAC (Exome Aggregation Consortium)ENSG00000109956
GNOMAD BrowserENSG00000109956
Varsome BrowserB3GAT1
Genetic variants : HAPMAP27087
Genomic Variants (DGV)B3GAT1 [DGVbeta]
DECIPHERB3GAT1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisB3GAT1 
Mutations
ICGC Data PortalB3GAT1 
TCGA Data PortalB3GAT1 
Broad Tumor PortalB3GAT1
OASIS PortalB3GAT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICB3GAT1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DB3GAT1
Mutations and Diseases : HGMDB3GAT1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch B3GAT1
DgiDB (Drug Gene Interaction Database)B3GAT1
DoCM (Curated mutations)B3GAT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)B3GAT1 (select a term)
intoGenB3GAT1
Cancer3DB3GAT1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM151290   
Orphanet
DisGeNETB3GAT1
MedgenB3GAT1
Genetic Testing Registry B3GAT1
NextProtQ9P2W7 [Medical]
TSGene27087
GENETestsB3GAT1
Target ValidationB3GAT1
Huge Navigator B3GAT1 [HugePedia]
snp3D : Map Gene to Disease27087
BioCentury BCIQB3GAT1
ClinGenB3GAT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD27087
Chemical/Pharm GKB GenePA25215
Clinical trialB3GAT1
Miscellaneous
canSAR (ICR)B3GAT1 (select the gene name)
DataMed IndexB3GAT1
Probes
Litterature
PubMed59 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineB3GAT1
EVEXB3GAT1
GoPubMedB3GAT1
iHOPB3GAT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Wed Nov 13 17:33:45 CET 2019
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