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AKR1C1 (aldo-keto reductase family 1 member C1)

Identity

Alias (NCBI)2-ALPHA-HSD
20-ALPHA-HSD
C9
DD1
DD1/DD2
DDH
DDH1
H-37
HAKRC
HBAB
MBAB
HGNC (Hugo) AKR1C1
HGNC Alias symbDDH
MBAB
DD1
HAKRC
HGNC Alias namedihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase
HGNC Previous nameDDH1
HGNC Previous namealdo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)
LocusID (NCBI) 1645
Atlas_Id 53098
Location 10p15.1  [Link to chromosome band 10p15]
Location_base_pair Starts at 4963415 and ends at 4983282 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)
CCDC88B (11q13.1) / AKR1C1 (10p15.1)CCDC88B 11q13.1 / AKR1C1 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

 



Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(10;11)(p15;q13) CCDC88B/AKR1C1


External links

Nomenclature
HGNC (Hugo)AKR1C1   384
Cards
Entrez_Gene (NCBI)AKR1C1  1645  aldo-keto reductase family 1 member C1
Aliases2-ALPHA-HSD; 20-ALPHA-HSD; C9; DD1; 
DD1/DD2; DDH; DDH1; H-37; HAKRC; HBAB; MBAB
GeneCards (Weizmann)AKR1C1
Ensembl hg19 (Hinxton)ENSG00000187134 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000187134 [Gene_View]  ENSG00000187134 [Sequence]  chr10:4963415-4983282 [Contig_View]  AKR1C1 [Vega]
ICGC DataPortalENSG00000187134
TCGA cBioPortalAKR1C1
AceView (NCBI)AKR1C1
Genatlas (Paris)AKR1C1
WikiGenes1645
SOURCE (Princeton)AKR1C1
Genetics Home Reference (NIH)AKR1C1
Genomic and cartography
GoldenPath hg38 (UCSC)AKR1C1  -     chr10:4963415-4983282 +  10p15.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AKR1C1  -     10p15.1   [Description]    (hg19-Feb_2009)
GoldenPathAKR1C1 - 10p15.1 [CytoView hg19]  AKR1C1 - 10p15.1 [CytoView hg38]
ImmunoBaseENSG00000187134
genome Data Viewer NCBIAKR1C1 [Mapview hg19]  
OMIM600449   
Gene and transcription
Genbank (Entrez)AB031083 AK303435 AK310658 BC015490 BC020216
RefSeq transcript (Entrez)NM_001353
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AKR1C1
Alternative Splicing GalleryENSG00000187134
Gene ExpressionAKR1C1 [ NCBI-GEO ]   AKR1C1 [ EBI - ARRAY_EXPRESS ]   AKR1C1 [ SEEK ]   AKR1C1 [ MEM ]
Gene Expression Viewer (FireBrowse)AKR1C1 [ Firebrowse - Broad ]
GenevisibleExpression of AKR1C1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1645
GTEX Portal (Tissue expression)AKR1C1
Human Protein AtlasENSG00000187134-AKR1C1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ04828   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ04828  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ04828
Splice isoforms : SwissVarQ04828
Catalytic activity : Enzyme1.1.1.- [ Enzyme-Expasy ]   1.1.1.-1.1.1.- [ IntEnz-EBI ]   1.1.1.- [ BRENDA ]   1.1.1.- [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusQ04828
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)AKR1C1
DMDM Disease mutations1645
Blocks (Seattle)AKR1C1
PDB (RSDB)1MRQ    3C3U    3GUG    3NTY    4YVP    6A7A    6IJX   
PDB Europe1MRQ    3C3U    3GUG    3NTY    4YVP    6A7A    6IJX   
PDB (PDBSum)1MRQ    3C3U    3GUG    3NTY    4YVP    6A7A    6IJX   
PDB (IMB)1MRQ    3C3U    3GUG    3NTY    4YVP    6A7A    6IJX   
Structural Biology KnowledgeBase1MRQ    3C3U    3GUG    3NTY    4YVP    6A7A    6IJX   
SCOP (Structural Classification of Proteins)1MRQ    3C3U    3GUG    3NTY    4YVP    6A7A    6IJX   
CATH (Classification of proteins structures)1MRQ    3C3U    3GUG    3NTY    4YVP    6A7A    6IJX   
SuperfamilyQ04828
Human Protein Atlas [tissue]ENSG00000187134-AKR1C1 [tissue]
Peptide AtlasQ04828
HPRD07194
IPIIPI00029733   IPI00514814   IPI00642560   
Protein Interaction databases
DIP (DOE-UCLA)Q04828
IntAct (EBI)Q04828
FunCoupENSG00000187134
BioGRIDAKR1C1
STRING (EMBL)AKR1C1
ZODIACAKR1C1
Ontologies - Pathways
QuickGOQ04828
Ontology : AmiGOretinoid metabolic process  alditol:NADP+ 1-oxidoreductase activity  alditol:NADP+ 1-oxidoreductase activity  aldo-keto reductase (NADP) activity  steroid binding  protein binding  cytosol  cytosol  cytosol  prostaglandin metabolic process  xenobiotic metabolic process  digestion  alcohol dehydrogenase (NADP+) activity  steroid metabolic process  bile acid metabolic process  C21-steroid hormone metabolic process  bile acid and bile salt transport  steroid dehydrogenase activity  oxidoreductase activity  oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor  phenanthrene 9,10-monooxygenase activity  intestinal cholesterol absorption  epithelial cell differentiation  carboxylic acid binding  bile acid binding  bile acid binding  progesterone metabolic process  progesterone metabolic process  retinal metabolic process  cholesterol homeostasis  daunorubicin metabolic process  daunorubicin metabolic process  doxorubicin metabolic process  doxorubicin metabolic process  response to organophosphorus  17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity  androsterone dehydrogenase activity  androsterone dehydrogenase (B-specific) activity  ketosteroid monooxygenase activity  ketosteroid monooxygenase activity  trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity  indanol dehydrogenase activity  oxidation-reduction process  extracellular exosome  cellular response to jasmonic acid stimulus  
Ontology : EGO-EBIretinoid metabolic process  alditol:NADP+ 1-oxidoreductase activity  alditol:NADP+ 1-oxidoreductase activity  aldo-keto reductase (NADP) activity  steroid binding  protein binding  cytosol  cytosol  cytosol  prostaglandin metabolic process  xenobiotic metabolic process  digestion  alcohol dehydrogenase (NADP+) activity  steroid metabolic process  bile acid metabolic process  C21-steroid hormone metabolic process  bile acid and bile salt transport  steroid dehydrogenase activity  oxidoreductase activity  oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor  phenanthrene 9,10-monooxygenase activity  intestinal cholesterol absorption  epithelial cell differentiation  carboxylic acid binding  bile acid binding  bile acid binding  progesterone metabolic process  progesterone metabolic process  retinal metabolic process  cholesterol homeostasis  daunorubicin metabolic process  daunorubicin metabolic process  doxorubicin metabolic process  doxorubicin metabolic process  response to organophosphorus  17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity  androsterone dehydrogenase activity  androsterone dehydrogenase (B-specific) activity  ketosteroid monooxygenase activity  ketosteroid monooxygenase activity  trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity  indanol dehydrogenase activity  oxidation-reduction process  extracellular exosome  cellular response to jasmonic acid stimulus  
Pathways : KEGGSteroid hormone biosynthesis    Metabolism of xenobiotics by cytochrome P450   
NDEx NetworkAKR1C1
Atlas of Cancer Signalling NetworkAKR1C1
Wikipedia pathwaysAKR1C1
Orthology - Evolution
OrthoDB1645
GeneTree (enSembl)ENSG00000187134
Phylogenetic Trees/Animal Genes : TreeFamAKR1C1
HOGENOMQ04828
Homologs : HomoloGeneAKR1C1
Homology/Alignments : Family Browser (UCSC)AKR1C1
Gene fusions - Rearrangements
Fusion : MitelmanCCDC88B/AKR1C1 [11q13.1/10p15.1]  
Fusion PortalCCDC88B 11q13.1 AKR1C1 10p15.1 LUSC
Fusion : QuiverAKR1C1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAKR1C1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AKR1C1
dbVarAKR1C1
ClinVarAKR1C1
1000_GenomesAKR1C1 
Exome Variant ServerAKR1C1
GNOMAD BrowserENSG00000187134
Varsome BrowserAKR1C1
Genetic variants : HAPMAP1645
Genomic Variants (DGV)AKR1C1 [DGVbeta]
DECIPHERAKR1C1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAKR1C1 
Mutations
ICGC Data PortalAKR1C1 
TCGA Data PortalAKR1C1 
Broad Tumor PortalAKR1C1
OASIS PortalAKR1C1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAKR1C1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DAKR1C1
Mutations and Diseases : HGMDAKR1C1
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 AKR1C1
DgiDB (Drug Gene Interaction Database)AKR1C1
DoCM (Curated mutations)AKR1C1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AKR1C1 (select a term)
intoGenAKR1C1
Cancer3DAKR1C1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600449   
Orphanet
DisGeNETAKR1C1
MedgenAKR1C1
Genetic Testing Registry AKR1C1
NextProtQ04828 [Medical]
TSGene1645
GENETestsAKR1C1
Target ValidationAKR1C1
Huge Navigator AKR1C1 [HugePedia]
snp3D : Map Gene to Disease1645
BioCentury BCIQAKR1C1
ClinGenAKR1C1
Clinical trials, drugs, therapy
Protein Interactions : CTD1645
Pharm GKB GenePA24677
Clinical trialAKR1C1
Miscellaneous
canSAR (ICR)AKR1C1 (select the gene name)
HarmonizomeAKR1C1
DataMed IndexAKR1C1
Probes
Litterature
PubMed80 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAKR1C1
EVEXAKR1C1
GoPubMedAKR1C1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jul 16 15:02:42 CEST 2020

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