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UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide A1)

Identity

Other namesBILIQTL1
GNT1
HUG-BR1
UDPGT
UDPGT 1-1
UGT1
UGT1A
HGNC (Hugo) UGT1A1
LocusID (NCBI) 54658
Atlas_Id 45654
Location 2q37.1
Location_base_pair Starts at 234668919 and ends at 234681945 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)UGT1A1   12530
Cards
Entrez_Gene (NCBI)UGT1A1  54658  UDP glucuronosyltransferase 1 family, polypeptide A1
GeneCards (Weizmann)UGT1A1
Ensembl hg19 (Hinxton)ENSG00000241635 [Gene_View]  chr2:234668919-234681945 [Contig_View]  UGT1A1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000241635 [Gene_View]  chr2:234668919-234681945 [Contig_View]  UGT1A1 [Vega]
ICGC DataPortalENSG00000241635
TCGA cBioPortalUGT1A1
AceView (NCBI)UGT1A1
Genatlas (Paris)UGT1A1
WikiGenes54658
SOURCE (Princeton)UGT1A1
Genomic and cartography
GoldenPath hg19 (UCSC)UGT1A1  -     chr2:234668919-234681945 +  2q37.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)UGT1A1  -     2q37.1   [Description]    (hg38-Dec_2013)
EnsemblUGT1A1 - 2q37.1 [CytoView hg19]  UGT1A1 - 2q37.1 [CytoView hg38]
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)NC_000002 NC_018913 NG_002601 NG_033238 NT_005403 NW_004929306
Consensus coding sequences : CCDS (NCBI)UGT1A1
Cluster EST : UnigeneHs.554822 [ NCBI ]
CGAP (NCI)Hs.554822
Alternative Splicing : Fast-db (Paris)GSHG0017294
Alternative Splicing GalleryENSG00000241635
Gene ExpressionUGT1A1 [ NCBI-GEO ]     UGT1A1 [ SEEK ]   UGT1A1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP22309 (Uniprot)
NextProtP22309  [Medical]
With graphics : InterProP22309
Splice isoforms : SwissVarP22309 (Swissvar)
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 ]   
Domaine pattern : Prosite (Expaxy)UDPGT (PS00375)   
Domains : Interpro (EBI)UDP_glucos_trans   
Related proteins : CluSTrP22309
Domain families : Pfam (Sanger)UDPGT (PF00201)   
Domain families : Pfam (NCBI)pfam00201   
DMDM Disease mutations54658
Blocks (Seattle)P22309
Human Protein AtlasENSG00000241635
Peptide AtlasP22309
HPRD08933
IPIIPI00434346   IPI01012357   IPI00930064   
Protein Interaction databases
DIP (DOE-UCLA)P22309
IntAct (EBI)P22309
FunCoupENSG00000241635
BioGRIDUGT1A1
IntegromeDBUGT1A1
STRING (EMBL)UGT1A1
Ontologies - Pathways
QuickGOP22309
Ontology : AmiGOliver development  retinoic acid binding  enzyme inhibitor activity  steroid binding  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum membrane  endoplasmic reticulum membrane  endoplasmic reticulum membrane  integral component of plasma membrane  porphyrin-containing compound metabolic process  bilirubin conjugation  xenobiotic metabolic process  acute-phase response  response to nutrient  digestion  steroid metabolic process  estrogen metabolic process  flavonoid biosynthetic process  glucuronosyltransferase activity  glucuronosyltransferase activity  glucuronosyltransferase activity  drug metabolic process  drug metabolic process  enzyme binding  enzyme binding  organ regeneration  response to lipopolysaccharide  cellular response to hormone stimulus  heme catabolic process  response to drug  retinoic acid metabolic process  response to starvation  protein homodimerization activity  negative regulation of catalytic activity  small molecule metabolic process  negative regulation of fatty acid metabolic process  negative regulation of steroid metabolic process  heterocycle metabolic process  protein heterodimerization activity  protein heterodimerization activity  negative regulation of transferase activity  flavone metabolic process  cellular glucuronidation  cellular glucuronidation  cellular glucuronidation  flavonoid glucuronidation  xenobiotic glucuronidation  cytochrome complex  biphenyl catabolic process  cellular response to ethanol  cellular response to glucocorticoid stimulus  negative regulation of cellular glucuronidation  
Ontology : EGO-EBIliver development  retinoic acid binding  enzyme inhibitor activity  steroid binding  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum membrane  endoplasmic reticulum membrane  endoplasmic reticulum membrane  integral component of plasma membrane  porphyrin-containing compound metabolic process  bilirubin conjugation  xenobiotic metabolic process  acute-phase response  response to nutrient  digestion  steroid metabolic process  estrogen metabolic process  flavonoid biosynthetic process  glucuronosyltransferase activity  glucuronosyltransferase activity  glucuronosyltransferase activity  drug metabolic process  drug metabolic process  enzyme binding  enzyme binding  organ regeneration  response to lipopolysaccharide  cellular response to hormone stimulus  heme catabolic process  response to drug  retinoic acid metabolic process  response to starvation  protein homodimerization activity  negative regulation of catalytic activity  small molecule metabolic process  negative regulation of fatty acid metabolic process  negative regulation of steroid metabolic process  heterocycle metabolic process  protein heterodimerization activity  protein heterodimerization activity  negative regulation of transferase activity  flavone metabolic process  cellular glucuronidation  cellular glucuronidation  cellular glucuronidation  flavonoid glucuronidation  xenobiotic glucuronidation  cytochrome complex  biphenyl catabolic process  cellular response to ethanol  cellular response to glucocorticoid stimulus  negative regulation of cellular glucuronidation  
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   
Protein Interaction DatabaseUGT1A1
DoCM (Curated mutations)UGT1A1
Wikipedia pathwaysUGT1A1
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerUGT1A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UGT1A1
dbVarUGT1A1
ClinVarUGT1A1
1000_GenomesUGT1A1 
Exome Variant ServerUGT1A1
SNP (GeneSNP Utah)UGT1A1
SNP : HGBaseUGT1A1
Genetic variants : HAPMAPUGT1A1
Genomic Variants (DGV)UGT1A1 [DGVbeta]
Mutations
ICGC Data PortalUGT1A1 
TCGA Data PortalUGT1A1 
Tumor PortalUGT1A1
Somatic Mutations in Cancer : COSMICUGT1A1 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)2:234668919-234681945
CONAN: Copy Number AnalysisUGT1A1 
Mutations and Diseases : HGMDUGT1A1
OMIM143500    191740    218800    237900    601816    606785   
MedgenUGT1A1
NextProtP22309 [Medical]
GENETestsUGT1A1
Disease Genetic AssociationUGT1A1
Huge Navigator UGT1A1 [HugePedia]  UGT1A1 [HugeCancerGEM]
snp3D : Map Gene to Disease54658
DGIdb (Drug Gene Interaction db)UGT1A1
General knowledge
Homologs : HomoloGeneUGT1A1
Homology/Alignments : Family Browser (UCSC)UGT1A1
Phylogenetic Trees/Animal Genes : TreeFamUGT1A1
Chemical/Protein Interactions : CTD54658
Chemical/Pharm GKB GenePA420
Clinical trialUGT1A1
Cancer Resource (Charite)ENSG00000241635
Other databases
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
CoreMineUGT1A1
GoPubMedUGT1A1
iHOPUGT1A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Apr 13 15:28:53 CEST 2015

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