Atlas of Genetics and Cytogenetics in Oncology and Haematology

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UGT1A1 (UDP glucuronosyltransferase family 1 member A1)

Identity

Alias_namesUGT1
GNT1
UDP glycosyltransferase 1 family, polypeptide A1
Alias_symbol (synonym)UGT1A
Other aliasBILIQTL1
HUG-BR1
UDPGT
UDPGT 1-1
HGNC (Hugo) UGT1A1
LocusID (NCBI) 54658
Atlas_Id 45654
Location 2q37.1  [Link to chromosome band 2q37]
Location_base_pair Starts at 233760273 and ends at 233773299 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)

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)UGT1A1   12530
LRG (Locus Reference Genomic)LRG_733
Cards
Entrez_Gene (NCBI)UGT1A1  54658  UDP glucuronosyltransferase family 1 member A1
AliasesBILIQTL1; GNT1; HUG-BR1; UDPGT; 
UDPGT; UGT1; UGT1A
GeneCards (Weizmann)UGT1A1
Ensembl hg19 (Hinxton)ENSG00000241635 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000241635 [Gene_View]  ENSG00000241635 [Sequence]  chr2:233760273-233773299 [Contig_View]  UGT1A1 [Vega]
ICGC DataPortalENSG00000241635
TCGA cBioPortalUGT1A1
AceView (NCBI)UGT1A1
Genatlas (Paris)UGT1A1
WikiGenes54658
SOURCE (Princeton)UGT1A1
Genetics Home Reference (NIH)UGT1A1
Genomic and cartography
GoldenPath hg38 (UCSC)UGT1A1  -     chr2:233760273-233773299 +  2q37.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UGT1A1  -     2q37.1   [Description]    (hg19-Feb_2009)
GoldenPathUGT1A1 - 2q37.1 [CytoView hg19]  UGT1A1 - 2q37.1 [CytoView hg38]
ImmunoBaseENSG00000241635
Mapping of homologs : NCBIUGT1A1 [Mapview hg19]  UGT1A1 [Mapview hg38]
OMIM143500   191740   218800   237900   601816   606785   
Gene and transcription
Genbank (Entrez)AK290834 AY435136 BC128414 BC128415 DQ364247
RefSeq transcript (Entrez)NM_000463
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)UGT1A1
Cluster EST : UnigeneHs.554822 [ NCBI ]
CGAP (NCI)Hs.554822
Alternative Splicing GalleryENSG00000241635
Gene ExpressionUGT1A1 [ NCBI-GEO ]   UGT1A1 [ EBI - ARRAY_EXPRESS ]   UGT1A1 [ SEEK ]   UGT1A1 [ MEM ]
Gene Expression Viewer (FireBrowse)UGT1A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54658
GTEX Portal (Tissue expression)UGT1A1
Human Protein AtlasENSG00000241635-UGT1A1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP22309   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP22309  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP22309
Splice isoforms : SwissVarP22309
Catalytic activity : Enzyme2.4.1.17 [ Enzyme-Expasy ]   2.4.1.172.4.1.17 [ IntEnz-EBI ]   2.4.1.17 [ BRENDA ]   2.4.1.17 [ KEGG ]   
PhosPhoSitePlusP22309
Domaine pattern : Prosite (Expaxy)UDPGT (PS00375)   
Domains : Interpro (EBI)UDP_glucos_trans    UDP_glycos_trans_CS   
Domain families : Pfam (Sanger)UDPGT (PF00201)   
Domain families : Pfam (NCBI)pfam00201   
Conserved Domain (NCBI)UGT1A1
DMDM Disease mutations54658
Blocks (Seattle)UGT1A1
SuperfamilyP22309
Human Protein Atlas [tissue]ENSG00000241635-UGT1A1 [tissue]
Peptide AtlasP22309
HPRD08933
IPIIPI00434346   IPI01012357   IPI00930064   
Protein Interaction databases
DIP (DOE-UCLA)P22309
IntAct (EBI)P22309
FunCoupENSG00000241635
BioGRIDUGT1A1
STRING (EMBL)UGT1A1
ZODIACUGT1A1
Ontologies - Pathways
QuickGOP22309
Ontology : AmiGOliver development  retinoic acid binding  enzyme inhibitor activity  steroid binding  endoplasmic reticulum  endoplasmic reticulum membrane  integral component of plasma membrane  bilirubin conjugation  acute-phase response  response to nutrient  UDP-glycosyltransferase activity  steroid metabolic process  estrogen metabolic process  glucuronosyltransferase activity  drug metabolic process  enzyme binding  animal organ regeneration  response to lipopolysaccharide  endoplasmic reticulum chaperone complex  heme catabolic process  retinoic acid metabolic process  response to starvation  protein homodimerization activity  negative regulation of catalytic activity  intracellular membrane-bounded organelle  negative regulation of steroid metabolic process  heterocycle metabolic process  protein heterodimerization activity  flavone metabolic process  cellular glucuronidation  cellular glucuronidation  flavonoid glucuronidation  flavonoid glucuronidation  xenobiotic glucuronidation  xenobiotic glucuronidation  cytochrome complex  biphenyl catabolic process  cellular response to ethanol  cellular response to glucocorticoid stimulus  cellular response to estradiol stimulus  
Ontology : EGO-EBIliver development  retinoic acid binding  enzyme inhibitor activity  steroid binding  endoplasmic reticulum  endoplasmic reticulum membrane  integral component of plasma membrane  bilirubin conjugation  acute-phase response  response to nutrient  UDP-glycosyltransferase activity  steroid metabolic process  estrogen metabolic process  glucuronosyltransferase activity  drug metabolic process  enzyme binding  animal organ regeneration  response to lipopolysaccharide  endoplasmic reticulum chaperone complex  heme catabolic process  retinoic acid metabolic process  response to starvation  protein homodimerization activity  negative regulation of catalytic activity  intracellular membrane-bounded organelle  negative regulation of steroid metabolic process  heterocycle metabolic process  protein heterodimerization activity  flavone metabolic process  cellular glucuronidation  cellular glucuronidation  flavonoid glucuronidation  flavonoid glucuronidation  xenobiotic glucuronidation  xenobiotic glucuronidation  cytochrome complex  biphenyl catabolic process  cellular response to ethanol  cellular response to glucocorticoid stimulus  cellular response to estradiol stimulus  
Pathways : KEGGPentose and glucuronate interconversions    Ascorbate and aldarate metabolism    Steroid hormone biosynthesis    Starch and sucrose metabolism    Retinol metabolism    Porphyrin and chlorophyll metabolism    Metabolism of xenobiotics by cytochrome P450    Drug metabolism - cytochrome P450    Drug metabolism - other enzymes    Chemical carcinogenesis   
NDEx NetworkUGT1A1
Atlas of Cancer Signalling NetworkUGT1A1
Wikipedia pathwaysUGT1A1
Orthology - Evolution
OrthoDB54658
GeneTree (enSembl)ENSG00000241635
Phylogenetic Trees/Animal Genes : TreeFamUGT1A1
HOGENOMP22309
Homologs : HomoloGeneUGT1A1
Homology/Alignments : Family Browser (UCSC)UGT1A1
Gene fusions - Rearrangements
Fusion : QuiverUGT1A1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUGT1A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UGT1A1
dbVarUGT1A1
ClinVarUGT1A1
1000_GenomesUGT1A1 
Exome Variant ServerUGT1A1
ExAC (Exome Aggregation Consortium)ENSG00000241635
GNOMAD BrowserENSG00000241635
Varsome BrowserUGT1A1
Genetic variants : HAPMAP54658
Genomic Variants (DGV)UGT1A1 [DGVbeta]
DECIPHERUGT1A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUGT1A1 
Mutations
ICGC Data PortalUGT1A1 
TCGA Data PortalUGT1A1 
Broad Tumor PortalUGT1A1
OASIS PortalUGT1A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUGT1A1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DUGT1A1
Mutations and Diseases : HGMDUGT1A1
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 UGT1A1
DgiDB (Drug Gene Interaction Database)UGT1A1
DoCM (Curated mutations)UGT1A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UGT1A1 (select a term)
intoGenUGT1A1
Cancer3DUGT1A1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM143500    191740    218800    237900    601816    606785   
Orphanet838    19369    19379    11260    11261   
DisGeNETUGT1A1
MedgenUGT1A1
Genetic Testing Registry UGT1A1
NextProtP22309 [Medical]
TSGene54658
GENETestsUGT1A1
Target ValidationUGT1A1
Huge Navigator UGT1A1 [HugePedia]
snp3D : Map Gene to Disease54658
BioCentury BCIQUGT1A1
ClinGenUGT1A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54658
Chemical/Pharm GKB GenePA420
Clinical trialUGT1A1
Miscellaneous
canSAR (ICR)UGT1A1 (select the gene name)
DataMed IndexUGT1A1
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUGT1A1
EVEXUGT1A1
GoPubMedUGT1A1
iHOPUGT1A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 18:14:12 CET 2019
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