| Nomenclature |
|---|
| HGNC (Hugo) | AKR1C1 384 |
| Cards |
|---|
| Entrez_Gene (NCBI) | AKR1C1 1645 aldo-keto reductase family 1 member C1 |
| Aliases | 2-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] chr10:4963262-4977966 [Contig_View] AKR1C1 [Vega] |
| ICGC DataPortal | ENSG00000187134 |
| TCGA cBioPortal | AKR1C1 |
| AceView (NCBI) | AKR1C1 |
| Genatlas (Paris) | AKR1C1 |
| WikiGenes | 1645 |
| 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) |
| Ensembl | AKR1C1 - 10p15.1 [CytoView hg19] AKR1C1 - 10p15.1 [CytoView hg38] |
| Mapping of homologs : NCBI | AKR1C1 [Mapview hg19] AKR1C1 [Mapview hg38] |
| OMIM | 600449 |
| 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 : Unigene | Hs.460260 [ NCBI ] |
| CGAP (NCI) | Hs.460260 |
| Alternative Splicing Gallery | ENSG00000187134 |
| Gene Expression | AKR1C1 [ 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] |
| Genevestigator | Expression in : [tissues] [cell-lines] [cancer] [perturbations] |
| BioGPS (Tissue expression) | 1645 |
| GTEX Portal (Tissue expression) | AKR1C1 |
| Human Protein Atlas | ENSG00000187134-AKR1C1 [pathology] [cell] [tissue] |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | Q04828 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
| NextProt | Q04828 [Sequence] [Exons] [Medical] [Publications] |
| With graphics : InterPro | Q04828 |
| Splice isoforms : SwissVar | Q04828 |
| Catalytic activity : Enzyme | 1.1.1.- [ Enzyme-Expasy ] 1.1.1.-1.1.1.- [ IntEnz-EBI ] 1.1.1.- [ BRENDA ] 1.1.1.- [ KEGG ] |
| PhosPhoSitePlus | Q04828 |
| 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 mutations | 1645 |
| 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 KnowledgeBase | 1MRQ 3C3U 3GUG 3NTY 4YVP |
| SCOP (Structural Classification of Proteins) | 1MRQ 3C3U 3GUG 3NTY 4YVP |
| CATH (Classification of proteins structures) | 1MRQ 3C3U 3GUG 3NTY 4YVP |
| Superfamily | Q04828 |
| Human Protein Atlas [tissue] | ENSG00000187134-AKR1C1 [tissue] |
| Peptide Atlas | Q04828 |
| HPRD | 07194 |
| IPI | IPI00029733 IPI00514814 IPI00642560 |
| Protein Interaction databases |
|---|
| DIP (DOE-UCLA) | Q04828 |
| IntAct (EBI) | Q04828 |
| FunCoup | ENSG00000187134 |
| BioGRID | AKR1C1 |
| STRING (EMBL) | AKR1C1 |
| ZODIAC | AKR1C1 |
| Ontologies - Pathways |
|---|
| QuickGO | Q04828 |
| Ontology : AmiGO | retinoid metabolic process alditol:NADP+ 1-oxidoreductase activity alditol:NADP+ 1-oxidoreductase activity aldo-keto reductase (NADP) activity protein binding cytosol cytosol cytosol xenobiotic metabolic process digestion alcohol dehydrogenase (NADP+) activity steroid metabolic process bile acid 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 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 activity androsterone dehydrogenase (B-specific) activity ketosteroid monooxygenase 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-EBI | retinoid metabolic process alditol:NADP+ 1-oxidoreductase activity alditol:NADP+ 1-oxidoreductase activity aldo-keto reductase (NADP) activity protein binding cytosol cytosol cytosol xenobiotic metabolic process digestion alcohol dehydrogenase (NADP+) activity steroid metabolic process bile acid 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 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 activity androsterone dehydrogenase (B-specific) activity ketosteroid monooxygenase 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 : KEGG | Steroid hormone biosynthesis Metabolism of xenobiotics by cytochrome P450 |
| NDEx Network | AKR1C1 |
| Atlas of Cancer Signalling Network | AKR1C1 |
| Wikipedia pathways | AKR1C1 |
| Orthology - Evolution |
|---|
| OrthoDB | 1645 |
| GeneTree (enSembl) | ENSG00000187134 |
| Phylogenetic Trees/Animal Genes : TreeFam | AKR1C1 |
| HOVERGEN | Q04828 |
| HOGENOM | Q04828 |
| Homologs : HomoloGene | AKR1C1 |
| Homology/Alignments : Family Browser (UCSC) | AKR1C1 |
| Gene fusions - Rearrangements |
|---|
| Fusion : Mitelman | CCDC88B/AKR1C1 [11q13.1/10p15.1] [t(10;11)(p15;q13)] |
| Fusion Portal | CCDC88B 11q13.1 AKR1C1 10p15.1 LUSC |
| Fusion : Quiver | AKR1C1 |
| Polymorphisms : SNP and Copy number variants |
|---|
| NCBI Variation Viewer | AKR1C1 [hg38] |
| dbSNP Single Nucleotide Polymorphism (NCBI) | AKR1C1 |
| dbVar | AKR1C1 |
| ClinVar | AKR1C1 |
| 1000_Genomes | AKR1C1 |
| Exome Variant Server | AKR1C1 |
| ExAC (Exome Aggregation Consortium) | ENSG00000187134 |
| GNOMAD Browser | ENSG00000187134 |
| Varsome Browser | AKR1C1 |
| Genetic variants : HAPMAP | 1645 |
| Genomic Variants (DGV) | AKR1C1 [DGVbeta] |
| DECIPHER | AKR1C1 [patients] [syndromes] [variants] [genes] |
| CONAN: Copy Number Analysis | AKR1C1 |
| Mutations |
|---|
| ICGC Data Portal | AKR1C1 |
| TCGA Data Portal | AKR1C1 |
| Broad Tumor Portal | AKR1C1 |
| OASIS Portal | AKR1C1 [ Somatic mutations - Copy number] |
| Somatic Mutations in Cancer : COSMIC | AKR1C1 [overview] [genome browser] [tissue] [distribution] |
| Mutations and Diseases : HGMD | AKR1C1 |
| 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 |
| BioMuta | search 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) |
| intoGen | AKR1C1 |
| Cancer3D | AKR1C1(select the gene name) |
| Impact of mutations | [PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
|---|
| OMIM | 600449 |
| Orphanet | |
| DisGeNET | AKR1C1 |
| Medgen | AKR1C1 |
| Genetic Testing Registry | AKR1C1
|
| NextProt | Q04828 [Medical] |
| TSGene | 1645 |
| GENETests | AKR1C1 |
| Target Validation | AKR1C1 |
| Huge Navigator |
AKR1C1 [HugePedia] |
| snp3D : Map Gene to Disease | 1645 |
| BioCentury BCIQ | AKR1C1 |
| ClinGen | AKR1C1 |
| Clinical trials, drugs, therapy |
|---|
| Chemical/Protein Interactions : CTD | 1645 |
| Chemical/Pharm GKB Gene | PA24677 |
| Clinical trial | AKR1C1 |
| Miscellaneous |
|---|
| canSAR (ICR) | AKR1C1 (select the gene name) |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 75 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| CoreMine | AKR1C1 |
| EVEX | AKR1C1 |
| GoPubMed | AKR1C1 |
| iHOP | AKR1C1 |
