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B3GALT1 (beta-1,3-galactosyltransferase 1)

Identity

Alias_namesUDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1
UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase 1
Alias_symbol (synonym)beta3Gal-T1
Other alias
HGNC (Hugo) B3GALT1
LocusID (NCBI) 8708
Atlas_Id 54149
Location 2q24.3  [Link to chromosome band 2q24]
Location_base_pair Starts at 167818672 and ends at 167870856 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
STK39 (2q24.3) / B3GALT1 (2q24.3)

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Adenocarcinoma


External links

Nomenclature
HGNC (Hugo)B3GALT1   916
Cards
Entrez_Gene (NCBI)B3GALT1  8708  beta-1,3-galactosyltransferase 1
Aliasesbeta3Gal-T1
GeneCards (Weizmann)B3GALT1
Ensembl hg19 (Hinxton)ENSG00000172318 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000172318 [Gene_View]  chr2:167818672-167870856 [Contig_View]  B3GALT1 [Vega]
ICGC DataPortalENSG00000172318
TCGA cBioPortalB3GALT1
AceView (NCBI)B3GALT1
Genatlas (Paris)B3GALT1
WikiGenes8708
SOURCE (Princeton)B3GALT1
Genetics Home Reference (NIH)B3GALT1
Genomic and cartography
GoldenPath hg38 (UCSC)B3GALT1  -     chr2:167818672-167870856 +  2q24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)B3GALT1  -     2q24.3   [Description]    (hg19-Feb_2009)
EnsemblB3GALT1 - 2q24.3 [CytoView hg19]  B3GALT1 - 2q24.3 [CytoView hg38]
Mapping of homologs : NCBIB3GALT1 [Mapview hg19]  B3GALT1 [Mapview hg38]
OMIM603093   
Gene and transcription
Genbank (Entrez)AF117222 BC101545 BC104813 E07739
RefSeq transcript (Entrez)NM_020981
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)B3GALT1
Cluster EST : UnigeneHs.735833 [ NCBI ]
CGAP (NCI)Hs.735833
Alternative Splicing GalleryENSG00000172318
Gene ExpressionB3GALT1 [ NCBI-GEO ]   B3GALT1 [ EBI - ARRAY_EXPRESS ]   B3GALT1 [ SEEK ]   B3GALT1 [ MEM ]
Gene Expression Viewer (FireBrowse)B3GALT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8708
GTEX Portal (Tissue expression)B3GALT1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y5Z6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y5Z6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y5Z6
Splice isoforms : SwissVarQ9Y5Z6
PhosPhoSitePlusQ9Y5Z6
Domains : Interpro (EBI)Glyco_trans_31    Nucleotide-diphossugar_trans   
Domain families : Pfam (Sanger)Galactosyl_T (PF01762)   
Domain families : Pfam (NCBI)pfam01762   
Conserved Domain (NCBI)B3GALT1
DMDM Disease mutations8708
Blocks (Seattle)B3GALT1
SuperfamilyQ9Y5Z6
Human Protein AtlasENSG00000172318
Peptide AtlasQ9Y5Z6
HPRD04369
IPIIPI00025387   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y5Z6
IntAct (EBI)Q9Y5Z6
FunCoupENSG00000172318
BioGRIDB3GALT1
STRING (EMBL)B3GALT1
ZODIACB3GALT1
Ontologies - Pathways
QuickGOQ9Y5Z6
Ontology : AmiGOGolgi membrane  protein glycosylation  protein glycosylation  UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity  oligosaccharide biosynthetic process  integral component of membrane  glucosaminylgalactosylglucosylceramide beta-galactosyltransferase activity  
Ontology : EGO-EBIGolgi membrane  protein glycosylation  protein glycosylation  UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity  oligosaccharide biosynthetic process  integral component of membrane  glucosaminylgalactosylglucosylceramide beta-galactosyltransferase activity  
Pathways : BIOCARTASteps in the Glycosylation of Mammalian N-linked Oligosaccarides [Genes]   
Pathways : KEGGGlycosphingolipid biosynthesis - lacto and neolacto series   
NDEx NetworkB3GALT1
Atlas of Cancer Signalling NetworkB3GALT1
Wikipedia pathwaysB3GALT1
Orthology - Evolution
OrthoDB8708
GeneTree (enSembl)ENSG00000172318
Phylogenetic Trees/Animal Genes : TreeFamB3GALT1
HOVERGENQ9Y5Z6
HOGENOMQ9Y5Z6
Homologs : HomoloGeneB3GALT1
Homology/Alignments : Family Browser (UCSC)B3GALT1
Gene fusions - Rearrangements
Fusion : MitelmanSTK39/B3GALT1 [2q24.3/2q24.3]  [t(2;2)(q24;q24)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerB3GALT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)B3GALT1
dbVarB3GALT1
ClinVarB3GALT1
1000_GenomesB3GALT1 
Exome Variant ServerB3GALT1
ExAC (Exome Aggregation Consortium)B3GALT1 (select the gene name)
Genetic variants : HAPMAP8708
Genomic Variants (DGV)B3GALT1 [DGVbeta]
DECIPHERB3GALT1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisB3GALT1 
Mutations
ICGC Data PortalB3GALT1 
TCGA Data PortalB3GALT1 
Broad Tumor PortalB3GALT1
OASIS PortalB3GALT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICB3GALT1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDB3GALT1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch B3GALT1
DgiDB (Drug Gene Interaction Database)B3GALT1
DoCM (Curated mutations)B3GALT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)B3GALT1 (select a term)
intoGenB3GALT1
Cancer3DB3GALT1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603093   
Orphanet
MedgenB3GALT1
Genetic Testing Registry B3GALT1
NextProtQ9Y5Z6 [Medical]
TSGene8708
GENETestsB3GALT1
Huge Navigator B3GALT1 [HugePedia]
snp3D : Map Gene to Disease8708
BioCentury BCIQB3GALT1
ClinGenB3GALT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8708
Chemical/Pharm GKB GenePA25209
Clinical trialB3GALT1
Miscellaneous
canSAR (ICR)B3GALT1 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineB3GALT1
EVEXB3GALT1
GoPubMedB3GALT1
iHOPB3GALT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:07:22 CEST 2017

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