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GBGT1 (globoside alpha-1,3-N-acetylgalactosaminyltransferase 1)

Identity

Alias_symbol (synonym)UDP-GalNAc
A3GALNT
MGC44848
FS
Other aliasUNQ2513
HGNC (Hugo) GBGT1
LocusID (NCBI) 26301
Atlas_Id 55099
Location 9q34.2  [Link to chromosome band 9q34]
Location_base_pair Starts at 136028335 and ends at 136039332 bp from pter ( according to hg19-Feb_2009)

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)GBGT1   20460
LRG (Locus Reference Genomic)LRG_826
Cards
Entrez_Gene (NCBI)GBGT1  26301  globoside alpha-1,3-N-acetylgalactosaminyltransferase 1
AliasesA3GALNT; FS; UNQ2513
GeneCards (Weizmann)GBGT1
Ensembl hg19 (Hinxton)ENSG00000148288 [Gene_View]  chr9:136028335-136039332 [Contig_View]  GBGT1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000148288 [Gene_View]  chr9:136028335-136039332 [Contig_View]  GBGT1 [Vega]
ICGC DataPortalENSG00000148288
TCGA cBioPortalGBGT1
AceView (NCBI)GBGT1
Genatlas (Paris)GBGT1
WikiGenes26301
SOURCE (Princeton)GBGT1
Genetics Home Reference (NIH)GBGT1
Genomic and cartography
GoldenPath hg19 (UCSC)GBGT1  -     chr9:136028335-136039332 -  9q34.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)GBGT1  -     9q34.2   [Description]    (hg38-Dec_2013)
EnsemblGBGT1 - 9q34.2 [CytoView hg19]  GBGT1 - 9q34.2 [CytoView hg38]
Mapping of homologs : NCBIGBGT1 [Mapview hg19]  GBGT1 [Mapview hg38]
OMIM606074   
Gene and transcription
Genbank (Entrez)AK074639 AK074944 AK291498 AK303825 AK307687
RefSeq transcript (Entrez)NM_001282629 NM_001282632 NM_001288572 NM_001288573 NM_021996
RefSeq genomic (Entrez)NC_000009 NC_018920 NG_033868 NT_008470 NW_004929367
Consensus coding sequences : CCDS (NCBI)GBGT1
Cluster EST : UnigeneHs.495419 [ NCBI ]
CGAP (NCI)Hs.495419
Alternative Splicing GalleryENSG00000148288
Gene ExpressionGBGT1 [ NCBI-GEO ]   GBGT1 [ EBI - ARRAY_EXPRESS ]   GBGT1 [ SEEK ]   GBGT1 [ MEM ]
Gene Expression Viewer (FireBrowse)GBGT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26301
GTEX Portal (Tissue expression)GBGT1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N5D6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N5D6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N5D6
Splice isoforms : SwissVarQ8N5D6
Catalytic activity : Enzyme2.4.1.- [ Enzyme-Expasy ]   2.4.1.-2.4.1.- [ IntEnz-EBI ]   2.4.1.- [ BRENDA ]   2.4.1.- [ KEGG ]   
PhosPhoSitePlusQ8N5D6
Domains : Interpro (EBI)Glyco_trans_6    Nucleotide-diphossugar_trans   
Domain families : Pfam (Sanger)Glyco_transf_6 (PF03414)   
Domain families : Pfam (NCBI)pfam03414   
Conserved Domain (NCBI)GBGT1
DMDM Disease mutations26301
Blocks (Seattle)GBGT1
SuperfamilyQ8N5D6
Human Protein AtlasENSG00000148288
Peptide AtlasQ8N5D6
HPRD16193
IPIIPI00328941   IPI00384020   IPI01009551   IPI00514887   IPI00513921   
Protein Interaction databases
DIP (DOE-UCLA)Q8N5D6
IntAct (EBI)Q8N5D6
FunCoupENSG00000148288
BioGRIDGBGT1
STRING (EMBL)GBGT1
ZODIACGBGT1
Ontologies - Pathways
QuickGOQ8N5D6
Ontology : AmiGOGolgi membrane  protein glycosylation  glycolipid biosynthetic process  integral component of membrane  metal ion binding  globoside alpha-N-acetylgalactosaminyltransferase activity  
Ontology : EGO-EBIGolgi membrane  protein glycosylation  glycolipid biosynthetic process  integral component of membrane  metal ion binding  globoside alpha-N-acetylgalactosaminyltransferase activity  
Pathways : KEGGGlycosphingolipid biosynthesis - globo series   
NDEx NetworkGBGT1
Atlas of Cancer Signalling NetworkGBGT1
Wikipedia pathwaysGBGT1
Orthology - Evolution
OrthoDB26301
GeneTree (enSembl)ENSG00000148288
Phylogenetic Trees/Animal Genes : TreeFamGBGT1
HOVERGENQ8N5D6
HOGENOMQ8N5D6
Homologs : HomoloGeneGBGT1
Homology/Alignments : Family Browser (UCSC)GBGT1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGBGT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GBGT1
dbVarGBGT1
ClinVarGBGT1
1000_GenomesGBGT1 
Exome Variant ServerGBGT1
ExAC (Exome Aggregation Consortium)GBGT1 (select the gene name)
Genetic variants : HAPMAP26301
Genomic Variants (DGV)GBGT1 [DGVbeta]
DECIPHER (Syndromes)9:136028335-136039332  ENSG00000148288
CONAN: Copy Number AnalysisGBGT1 
Mutations
ICGC Data PortalGBGT1 
TCGA Data PortalGBGT1 
Broad Tumor PortalGBGT1
OASIS PortalGBGT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGBGT1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGBGT1
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 GBGT1
DgiDB (Drug Gene Interaction Database)GBGT1
DoCM (Curated mutations)GBGT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GBGT1 (select a term)
intoGenGBGT1
Cancer3DGBGT1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606074   
Orphanet
MedgenGBGT1
Genetic Testing Registry GBGT1
NextProtQ8N5D6 [Medical]
TSGene26301
GENETestsGBGT1
Huge Navigator GBGT1 [HugePedia]
snp3D : Map Gene to Disease26301
BioCentury BCIQGBGT1
ClinGenGBGT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD26301
Chemical/Pharm GKB GenePA134967297
Clinical trialGBGT1
Miscellaneous
canSAR (ICR)GBGT1 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGBGT1
EVEXGBGT1
GoPubMedGBGT1
iHOPGBGT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:02:08 CEST 2017

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