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AKR1C4 (aldo-keto reductase family 1, member C4)

Identity

Alias_namesCHDR
aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)
Alias_symbol (synonym)DD4
HAKRA
C11
3-alpha-HSD
CDR
MGC22581
Other aliasDD-4
HGNC (Hugo) AKR1C4
LocusID (NCBI) 1109
Atlas_Id 60231
Location 10p15.1  [Link to chromosome band 10p15]
Location_base_pair Starts at 5238798 and ends at 5260910 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CMTM4 (16q21) / AKR1C4 (10p15.1)

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)AKR1C4   387
Cards
Entrez_Gene (NCBI)AKR1C4  1109  aldo-keto reductase family 1, member C4
Aliases3-alpha-HSD; C11; CDR; CHDR; 
DD-4; DD4; HAKRA
GeneCards (Weizmann)AKR1C4
Ensembl hg19 (Hinxton)ENSG00000198610 [Gene_View]  chr10:5238798-5260910 [Contig_View]  AKR1C4 [Vega]
Ensembl hg38 (Hinxton)ENSG00000198610 [Gene_View]  chr10:5238798-5260910 [Contig_View]  AKR1C4 [Vega]
ICGC DataPortalENSG00000198610
TCGA cBioPortalAKR1C4
AceView (NCBI)AKR1C4
Genatlas (Paris)AKR1C4
WikiGenes1109
SOURCE (Princeton)AKR1C4
Genetics Home Reference (NIH)AKR1C4
Genomic and cartography
GoldenPath hg19 (UCSC)AKR1C4  -     chr10:5238798-5260910 +  10p15.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)AKR1C4  -     10p15.1   [Description]    (hg38-Dec_2013)
EnsemblAKR1C4 - 10p15.1 [CytoView hg19]  AKR1C4 - 10p15.1 [CytoView hg38]
Mapping of homologs : NCBIAKR1C4 [Mapview hg19]  AKR1C4 [Mapview hg38]
OMIM600451   614279   
Gene and transcription
Genbank (Entrez)AB031085 AB045829 AK314988 BC020744 D26125
RefSeq transcript (Entrez)NM_001818
RefSeq genomic (Entrez)NC_000010 NC_018921 NG_031872 NT_008705 NW_004929370
Consensus coding sequences : CCDS (NCBI)AKR1C4
Cluster EST : UnigeneHs.567245 [ NCBI ]
CGAP (NCI)Hs.567245
Alternative Splicing GalleryENSG00000198610
Gene ExpressionAKR1C4 [ NCBI-GEO ]   AKR1C4 [ EBI - ARRAY_EXPRESS ]   AKR1C4 [ SEEK ]   AKR1C4 [ MEM ]
Gene Expression Viewer (FireBrowse)AKR1C4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1109
GTEX Portal (Tissue expression)AKR1C4
Protein : pattern, domain, 3D structure
UniProt/SwissProtP17516   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP17516  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP17516
Splice isoforms : SwissVarP17516
Catalytic activity : Enzyme1.1.1.- [ Enzyme-Expasy ]   1.1.1.-1.1.1.- [ IntEnz-EBI ]   1.1.1.- [ BRENDA ]   1.1.1.- [ KEGG ]   
PhosPhoSitePlusP17516
Domaine pattern : Prosite (Expaxy)ALDOKETO_REDUCTASE_1 (PS00798)    ALDOKETO_REDUCTASE_2 (PS00062)    ALDOKETO_REDUCTASE_3 (PS00063)   
Domains : Interpro (EBI)Aldo/ket_red    Aldo/ket_reductase_CS    Aldo/keto_reductase_subgr    NADP_OxRdtase_dom   
Domain families : Pfam (Sanger)Aldo_ket_red (PF00248)   
Domain families : Pfam (NCBI)pfam00248   
Conserved Domain (NCBI)AKR1C4
DMDM Disease mutations1109
Blocks (Seattle)AKR1C4
PDB (SRS)2FVL   
PDB (PDBSum)2FVL   
PDB (IMB)2FVL   
PDB (RSDB)2FVL   
Structural Biology KnowledgeBase2FVL   
SCOP (Structural Classification of Proteins)2FVL   
CATH (Classification of proteins structures)2FVL   
SuperfamilyP17516
Human Protein AtlasENSG00000198610
Peptide AtlasP17516
HPRD07040
IPIIPI00289524   IPI00871915   
Protein Interaction databases
DIP (DOE-UCLA)P17516
IntAct (EBI)P17516
FunCoupENSG00000198610
BioGRIDAKR1C4
STRING (EMBL)AKR1C4
ZODIACAKR1C4
Ontologies - Pathways
QuickGOP17516
Ontology : AmiGOretinoid metabolic process  retinal dehydrogenase activity  aldo-keto reductase (NADP) activity  cytoplasm  cytosol  bile acid biosynthetic process  phototransduction, visible light  steroid metabolic process  bile acid metabolic process  androgen metabolic process  electron carrier activity  bile acid transmembrane transporter activity  bile acid and bile salt transport  oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor  small molecule metabolic process  daunorubicin metabolic process  doxorubicin metabolic process  androsterone dehydrogenase activity  chlordecone reductase activity  oxidation-reduction process  extracellular exosome  cellular response to jasmonic acid stimulus  
Ontology : EGO-EBIretinoid metabolic process  retinal dehydrogenase activity  aldo-keto reductase (NADP) activity  cytoplasm  cytosol  bile acid biosynthetic process  phototransduction, visible light  steroid metabolic process  bile acid metabolic process  androgen metabolic process  electron carrier activity  bile acid transmembrane transporter activity  bile acid and bile salt transport  oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor  small molecule metabolic process  daunorubicin metabolic process  doxorubicin metabolic process  androsterone dehydrogenase activity  chlordecone reductase activity  oxidation-reduction process  extracellular exosome  cellular response to jasmonic acid stimulus  
Pathways : KEGGPrimary bile acid biosynthesis    Steroid hormone biosynthesis    Metabolism of xenobiotics by cytochrome P450   
NDEx NetworkAKR1C4
Atlas of Cancer Signalling NetworkAKR1C4
Wikipedia pathwaysAKR1C4
Orthology - Evolution
OrthoDB1109
GeneTree (enSembl)ENSG00000198610
Phylogenetic Trees/Animal Genes : TreeFamAKR1C4
HOVERGENP17516
HOGENOMP17516
Homologs : HomoloGeneAKR1C4
Homology/Alignments : Family Browser (UCSC)AKR1C4
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAKR1C4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AKR1C4
dbVarAKR1C4
ClinVarAKR1C4
1000_GenomesAKR1C4 
Exome Variant ServerAKR1C4
ExAC (Exome Aggregation Consortium)AKR1C4 (select the gene name)
Genetic variants : HAPMAP1109
Genomic Variants (DGV)AKR1C4 [DGVbeta]
DECIPHER (Syndromes)10:5238798-5260910  ENSG00000198610
CONAN: Copy Number AnalysisAKR1C4 
Mutations
ICGC Data PortalAKR1C4 
TCGA Data PortalAKR1C4 
Broad Tumor PortalAKR1C4
OASIS PortalAKR1C4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAKR1C4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAKR1C4
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 AKR1C4
DgiDB (Drug Gene Interaction Database)AKR1C4
DoCM (Curated mutations)AKR1C4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AKR1C4 (select a term)
intoGenAKR1C4
Cancer3DAKR1C4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600451    614279   
Orphanet23440   
MedgenAKR1C4
Genetic Testing Registry AKR1C4
NextProtP17516 [Medical]
TSGene1109
GENETestsAKR1C4
Huge Navigator AKR1C4 [HugePedia]
snp3D : Map Gene to Disease1109
BioCentury BCIQAKR1C4
ClinGenAKR1C4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1109
Chemical/Pharm GKB GenePA24680
Clinical trialAKR1C4
Miscellaneous
canSAR (ICR)AKR1C4 (select the gene name)
Probes
Litterature
PubMed39 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAKR1C4
EVEXAKR1C4
GoPubMedAKR1C4
iHOPAKR1C4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 11:54:01 CET 2017

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