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B3GALNT1 (beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group))

Identity

Alias_namesB3GALT3
UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group)
UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group)
Alias_symbol (synonym)beta3Gal-T3
galT3
P1
GLOB
Other aliasGLCT3
Gb4Cer
P
HGNC (Hugo) B3GALNT1
LocusID (NCBI) 8706
Atlas_Id 60675
Location 3q26.1  [Link to chromosome band 3q26]
Location_base_pair Starts at 160801671 and ends at 160823160 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
B3GALNT1 (3q26.1) / CBS (21q22.3)B3GALNT1 (3q26.1) / COLCA1 (11q23.1)B3GALNT1 (3q26.1) / TP63 (3q28)
TBCB (19q13.12) / B3GALNT1 (3q26.1)

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)B3GALNT1   918
LRG (Locus Reference Genomic)LRG_820
Cards
Entrez_Gene (NCBI)B3GALNT1  8706  beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
AliasesB3GALT3; GLCT3; GLOB; Gb4Cer; 
P; P1; beta3Gal-T3; galT3
GeneCards (Weizmann)B3GALNT1
Ensembl hg19 (Hinxton)ENSG00000169255 [Gene_View]  chr3:160801671-160823160 [Contig_View]  B3GALNT1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000169255 [Gene_View]  chr3:160801671-160823160 [Contig_View]  B3GALNT1 [Vega]
ICGC DataPortalENSG00000169255
TCGA cBioPortalB3GALNT1
AceView (NCBI)B3GALNT1
Genatlas (Paris)B3GALNT1
WikiGenes8706
SOURCE (Princeton)B3GALNT1
Genetics Home Reference (NIH)B3GALNT1
Genomic and cartography
GoldenPath hg19 (UCSC)B3GALNT1  -     chr3:160801671-160823160 -  3q26.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)B3GALNT1  -     3q26.1   [Description]    (hg38-Dec_2013)
EnsemblB3GALNT1 - 3q26.1 [CytoView hg19]  B3GALNT1 - 3q26.1 [CytoView hg38]
Mapping of homologs : NCBIB3GALNT1 [Mapview hg19]  B3GALNT1 [Mapview hg38]
OMIM111400   603094   615021   
Gene and transcription
Genbank (Entrez)AB050855 AB050856 AB060691 AF132731 AF154848
RefSeq transcript (Entrez)NM_001038628 NM_003781 NM_033167 NM_033168 NM_033169
RefSeq genomic (Entrez)NC_000003 NC_018914 NG_007854 NT_005612 NW_004929311
Consensus coding sequences : CCDS (NCBI)B3GALNT1
Cluster EST : UnigeneHs.606694 [ NCBI ]
CGAP (NCI)Hs.606694
Alternative Splicing GalleryENSG00000169255
Gene ExpressionB3GALNT1 [ NCBI-GEO ]   B3GALNT1 [ EBI - ARRAY_EXPRESS ]   B3GALNT1 [ SEEK ]   B3GALNT1 [ MEM ]
Gene Expression Viewer (FireBrowse)B3GALNT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8706
GTEX Portal (Tissue expression)B3GALNT1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75752   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75752  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75752
Splice isoforms : SwissVarO75752
Catalytic activity : Enzyme2.4.1.79 [ Enzyme-Expasy ]   2.4.1.792.4.1.79 [ IntEnz-EBI ]   2.4.1.79 [ BRENDA ]   2.4.1.79 [ KEGG ]   
PhosPhoSitePlusO75752
Domains : Interpro (EBI)Glyco_trans_31   
Domain families : Pfam (Sanger)Galactosyl_T (PF01762)   
Domain families : Pfam (NCBI)pfam01762   
Conserved Domain (NCBI)B3GALNT1
DMDM Disease mutations8706
Blocks (Seattle)B3GALNT1
SuperfamilyO75752
Human Protein AtlasENSG00000169255
Peptide AtlasO75752
HPRD09119
IPIIPI00021552   IPI00910609   IPI00945714   IPI00945395   IPI00947299   IPI00945244   IPI00945103   IPI00945575   IPI00945531   
Protein Interaction databases
DIP (DOE-UCLA)O75752
IntAct (EBI)O75752
FunCoupENSG00000169255
BioGRIDB3GALNT1
STRING (EMBL)B3GALNT1
ZODIACB3GALNT1
Ontologies - Pathways
QuickGOO75752
Ontology : AmiGOGolgi membrane  protein glycosylation  UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity  oligosaccharide biosynthetic process  integral component of membrane  galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity  
Ontology : EGO-EBIGolgi membrane  protein glycosylation  UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity  oligosaccharide biosynthetic process  integral component of membrane  galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity  
Pathways : KEGGGlycosphingolipid biosynthesis - globo series   
NDEx NetworkB3GALNT1
Atlas of Cancer Signalling NetworkB3GALNT1
Wikipedia pathwaysB3GALNT1
Orthology - Evolution
OrthoDB8706
GeneTree (enSembl)ENSG00000169255
Phylogenetic Trees/Animal Genes : TreeFamB3GALNT1
HOVERGENO75752
HOGENOMO75752
Homologs : HomoloGeneB3GALNT1
Homology/Alignments : Family Browser (UCSC)B3GALNT1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerB3GALNT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)B3GALNT1
dbVarB3GALNT1
ClinVarB3GALNT1
1000_GenomesB3GALNT1 
Exome Variant ServerB3GALNT1
ExAC (Exome Aggregation Consortium)B3GALNT1 (select the gene name)
Genetic variants : HAPMAP8706
Genomic Variants (DGV)B3GALNT1 [DGVbeta]
DECIPHER (Syndromes)3:160801671-160823160  ENSG00000169255
CONAN: Copy Number AnalysisB3GALNT1 
Mutations
ICGC Data PortalB3GALNT1 
TCGA Data PortalB3GALNT1 
Broad Tumor PortalB3GALNT1
OASIS PortalB3GALNT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICB3GALNT1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDB3GALNT1
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 B3GALNT1
DgiDB (Drug Gene Interaction Database)B3GALNT1
DoCM (Curated mutations)B3GALNT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)B3GALNT1 (select a term)
intoGenB3GALNT1
Cancer3DB3GALNT1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM111400    603094    615021   
Orphanet
MedgenB3GALNT1
Genetic Testing Registry B3GALNT1
NextProtO75752 [Medical]
TSGene8706
GENETestsB3GALNT1
Huge Navigator B3GALNT1 [HugePedia]
snp3D : Map Gene to Disease8706
BioCentury BCIQB3GALNT1
ClinGenB3GALNT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8706
Chemical/Pharm GKB GenePA25211
Clinical trialB3GALNT1
Miscellaneous
canSAR (ICR)B3GALNT1 (select the gene name)
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineB3GALNT1
EVEXB3GALNT1
GoPubMedB3GALNT1
iHOPB3GALNT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 11:55:33 CET 2017

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