Atlas of Genetics and Cytogenetics in Oncology and Haematology


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AKR1C1 (aldo-keto reductase family 1 member C1)

Identity

Alias_names20-alpha (3-alpha)-hydroxysteroid dehydrogenase
DDH1
Alias_symbol (synonym)DDH
MBAB
DD1
HAKRC
Other alias2-ALPHA-HSD
20-ALPHA-HSD
C9
DD1/DD2
H-37
HBAB
HGNC (Hugo) AKR1C1
LocusID (NCBI) 1645
Atlas_Id 53098
Location 10p15.1  [Link to chromosome band 10p15]
Location_base_pair Starts at 4963262 and ends at 4977966 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
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

 


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]  chr10:4963262-4977966 [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  -     chr10:4963262-4977966 +  10p15.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AKR1C1  -     10p15.1   [Description]    (hg19-Feb_2009)
EnsemblAKR1C1 - 10p15.1 [CytoView hg19]  AKR1C1 - 10p15.1 [CytoView hg38]
Mapping of homologs : NCBIAKR1C1 [Mapview hg19]  AKR1C1 [Mapview hg38]
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
Cluster EST : UnigeneHs.460260 [ NCBI ]
CGAP (NCI)Hs.460260
Alternative Splicing GalleryENSG00000187134
Gene ExpressionAKR1C1 [ NCBI-GEO ]   AKR1C1 [ EBI - ARRAY_EXPRESS ]   AKR1C1 [ SEEK ]   AKR1C1 [ MEM ]
Gene Expression Viewer (FireBrowse)AKR1C1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1645
GTEX Portal (Tissue expression)AKR1C1
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 ]   
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   
Domain families : Pfam (Sanger)Aldo_ket_red (PF00248)   
Domain families : Pfam (NCBI)pfam00248   
Conserved Domain (NCBI)AKR1C1
DMDM Disease mutations1645
Blocks (Seattle)AKR1C1
PDB (SRS)1MRQ    3C3U    3GUG    3NTY    4YVP   
PDB (PDBSum)1MRQ    3C3U    3GUG    3NTY    4YVP   
PDB (IMB)1MRQ    3C3U    3GUG    3NTY    4YVP   
PDB (RSDB)1MRQ    3C3U    3GUG    3NTY    4YVP   
Structural Biology KnowledgeBase1MRQ    3C3U    3GUG    3NTY    4YVP   
SCOP (Structural Classification of Proteins)1MRQ    3C3U    3GUG    3NTY    4YVP   
CATH (Classification of proteins structures)1MRQ    3C3U    3GUG    3NTY    4YVP   
SuperfamilyQ04828
Human Protein AtlasENSG00000187134
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  aldo-keto reductase (NADP) activity  protein binding  cytosol  cytosol  xenobiotic metabolic process  digestion  bile acid metabolic process  bile acid and bile salt transport  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  progesterone metabolic process  retinal metabolic process  cholesterol homeostasis  daunorubicin metabolic process  doxorubicin metabolic process  response to organophosphorus  17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity  androsterone dehydrogenase (B-specific) activity  ketosteroid monooxygenase activity  trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity  indanol dehydrogenase activity  protein homooligomerization  oxidation-reduction process  extracellular exosome  cellular response to jasmonic acid stimulus  
Ontology : EGO-EBIretinoid metabolic process  alditol:NADP+ 1-oxidoreductase activity  aldo-keto reductase (NADP) activity  protein binding  cytosol  cytosol  xenobiotic metabolic process  digestion  bile acid metabolic process  bile acid and bile salt transport  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  progesterone metabolic process  retinal metabolic process  cholesterol homeostasis  daunorubicin metabolic process  doxorubicin metabolic process  response to organophosphorus  17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity  androsterone dehydrogenase (B-specific) activity  ketosteroid monooxygenase activity  trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity  indanol dehydrogenase activity  protein homooligomerization  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
HOVERGENQ04828
HOGENOMQ04828
Homologs : HomoloGeneAKR1C1
Homology/Alignments : Family Browser (UCSC)AKR1C1
Gene fusions - Rearrangements
Fusion : MitelmanCCDC88B/AKR1C1 [11q13.1/10p15.1]  [t(10;11)(p15;q13)]  
Fusion: TCGACCDC88B 11q13.1 AKR1C1 10p15.1 LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAKR1C1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AKR1C1
dbVarAKR1C1
ClinVarAKR1C1
1000_GenomesAKR1C1 
Exome Variant ServerAKR1C1
ExAC (Exome Aggregation Consortium)AKR1C1 (select the gene name)
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]  
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] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600449   
Orphanet
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
Chemical/Protein Interactions : CTD1645
Chemical/Pharm GKB GenePA24677
Clinical trialAKR1C1
Miscellaneous
canSAR (ICR)AKR1C1 (select the gene name)
Probes
Litterature
PubMed71 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAKR1C1
EVEXAKR1C1
GoPubMedAKR1C1
iHOPAKR1C1
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 : Wed Jun 7 12:23:21 CEST 2017

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