Atlas of Genetics and Cytogenetics in Oncology and Haematology

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AKR1C4 (aldo-keto reductase family 1 member C4)

Identity

Alias (NCBI)3-alpha-HSD
C11
CDR
CHDR
DD-4
DD4
HAKRA
HGNC (Hugo) AKR1C4
HGNC Alias symbDD4
HAKRA
C11
3-alpha-HSD
CDR
MGC22581
HGNC Alias namechlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4
HGNC Previous nameCHDR
HGNC Previous namealdo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)
LocusID (NCBI) 1109
Atlas_Id 56854
Location 10p15.1  [Link to chromosome band 10p15]
Location_base_pair Starts at 5196837 and ends at 5218949 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)
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]
Ensembl hg38 (Hinxton)ENSG00000198610 [Gene_View]  ENSG00000198610 [Sequence]  chr10:5196837-5218949 [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 hg38 (UCSC)AKR1C4  -     chr10:5196837-5218949 +  10p15.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AKR1C4  -     10p15.1   [Description]    (hg19-Feb_2009)
GoldenPathAKR1C4 - 10p15.1 [CytoView hg19]  AKR1C4 - 10p15.1 [CytoView hg38]
ImmunoBaseENSG00000198610
genome Data Viewer NCBIAKR1C4 [Mapview hg19]  
OMIM600451   614279   
Gene and transcription
Genbank (Entrez)AB031085 AB045829 AK314988 BC020744 D26125
RefSeq transcript (Entrez)NM_001818
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AKR1C4
Alternative Splicing GalleryENSG00000198610
Gene ExpressionAKR1C4 [ NCBI-GEO ]   AKR1C4 [ EBI - ARRAY_EXPRESS ]   AKR1C4 [ SEEK ]   AKR1C4 [ MEM ]
Gene Expression Viewer (FireBrowse)AKR1C4 [ Firebrowse - Broad ]
GenevisibleExpression of AKR1C4 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1109
GTEX Portal (Tissue expression)AKR1C4
Human Protein AtlasENSG00000198610-AKR1C4 [pathology]   [cell]   [tissue]
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 ]   [ MEROPS ]
PhosPhoSitePlusP17516
Domaine pattern : Prosite (Expaxy)ALDOKETO_REDUCTASE_1 (PS00798)    ALDOKETO_REDUCTASE_2 (PS00062)    ALDOKETO_REDUCTASE_3 (PS00063)   
Domains : Interpro (EBI)Aldo/ket_reductase_CS    Aldo/keto_reductase    NADP_OxRdtase_dom    NADP_OxRdtase_dom_sf   
Domain families : Pfam (Sanger)Aldo_ket_red (PF00248)   
Domain families : Pfam (NCBI)pfam00248   
Conserved Domain (NCBI)AKR1C4
DMDM Disease mutations1109
Blocks (Seattle)AKR1C4
PDB (RSDB)2FVL   
PDB Europe2FVL   
PDB (PDBSum)2FVL   
PDB (IMB)2FVL   
Structural Biology KnowledgeBase2FVL   
SCOP (Structural Classification of Proteins)2FVL   
CATH (Classification of proteins structures)2FVL   
SuperfamilyP17516
Human Protein Atlas [tissue]ENSG00000198610-AKR1C4 [tissue]
Peptide AtlasP17516
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  alditol:NADP+ 1-oxidoreductase activity  aldo-keto reductase (NADP) activity  steroid binding  cytoplasm  cytosol  cytosol  prostaglandin metabolic process  bile acid biosynthetic process  alcohol dehydrogenase (NADP+) activity  steroid metabolic process  C21-steroid hormone metabolic process  androgen metabolic process  electron transfer activity  bile acid transmembrane transporter activity  bile acid and bile salt transport  steroid dehydrogenase activity  oxidoreductase activity  oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor  electron transport chain  bile acid binding  progesterone metabolic process  daunorubicin metabolic process  daunorubicin metabolic process  doxorubicin metabolic process  doxorubicin metabolic process  androsterone dehydrogenase activity  androsterone dehydrogenase activity  ketosteroid monooxygenase activity  chlordecone reductase activity  extracellular exosome  cellular response to jasmonic acid stimulus  
Ontology : EGO-EBIretinoid metabolic process  retinal dehydrogenase activity  alditol:NADP+ 1-oxidoreductase activity  aldo-keto reductase (NADP) activity  steroid binding  cytoplasm  cytosol  cytosol  prostaglandin metabolic process  bile acid biosynthetic process  alcohol dehydrogenase (NADP+) activity  steroid metabolic process  C21-steroid hormone metabolic process  androgen metabolic process  electron transfer activity  bile acid transmembrane transporter activity  bile acid and bile salt transport  steroid dehydrogenase activity  oxidoreductase activity  oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor  electron transport chain  bile acid binding  progesterone metabolic process  daunorubicin metabolic process  daunorubicin metabolic process  doxorubicin metabolic process  doxorubicin metabolic process  androsterone dehydrogenase activity  androsterone dehydrogenase activity  ketosteroid monooxygenase activity  chlordecone reductase activity  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
HOGENOMP17516
Homologs : HomoloGeneAKR1C4
Homology/Alignments : Family Browser (UCSC)AKR1C4
Gene fusions - Rearrangements
Fusion : QuiverAKR1C4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAKR1C4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AKR1C4
dbVarAKR1C4
ClinVarAKR1C4
MonarchAKR1C4
1000_GenomesAKR1C4 
Exome Variant ServerAKR1C4
GNOMAD BrowserENSG00000198610
Varsome BrowserAKR1C4
Genetic variants : HAPMAP1109
Genomic Variants (DGV)AKR1C4 [DGVbeta]
DECIPHERAKR1C4 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DAKR1C4
Mutations and Diseases : HGMDAKR1C4
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] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600451    614279   
Orphanet
DisGeNETAKR1C4
MedgenAKR1C4
Genetic Testing Registry AKR1C4
NextProtP17516 [Medical]
TSGene1109
GENETestsAKR1C4
Target ValidationAKR1C4
Huge Navigator AKR1C4 [HugePedia]
snp3D : Map Gene to Disease1109
BioCentury BCIQAKR1C4
ClinGenAKR1C4
Clinical trials, drugs, therapy
Protein Interactions : CTD1109
Pharm GKB GenePA24680
Clinical trialAKR1C4
Miscellaneous
canSAR (ICR)AKR1C4 (select the gene name)
HarmonizomeAKR1C4
DataMed IndexAKR1C4
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAKR1C4
EVEXAKR1C4
GoPubMedAKR1C4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 14 14:01:04 CEST 2020
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