AKR1C1 (aldo-keto reductase family 1 member C1)

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Gene Gene information from NCBI Gene database.
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Entrez ID 1645
Gene name Aldo-keto reductase family 1 member C1
Gene symbol AKR1C1
Synonyms (NCBI Gene)
2-ALPHA-HSD20-ALPHA-HSDC9DD1DD1/DD2DDHDDH1H-37HAKRCHBABMBAB
Chromosome 10
Chromosome location 10p15.1
Summary This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as
miRNA miRNA information provided by mirtarbase database.
1
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miRTarBase ID miRNA Experiments Reference
MIRT756094 hsa-miR-338-3p Luciferase reporter assayWestern blottingqRT-PCRImmunoprecipitaion (IP)Immunofluorescence 38472205
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0001523 Process Retinoid metabolic process TAS
GO:0004032 Function Aldose reductase (NADPH) activity IBA
GO:0004032 Function Aldose reductase (NADPH) activity IDA 21232532
GO:0004303 Function Estradiol 17-beta-dehydrogenase [NAD(P)+] activity IEA
GO:0005515 Function Protein binding IPI 25416956, 28514442, 32296183, 32814053, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
600449 384 ENSG00000187134
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q04828
Protein name Aldo-keto reductase family 1 member C1 (EC 1.1.1.-) (EC 1.1.1.112) (EC 1.1.1.209) (EC 1.1.1.210) (EC 1.1.1.357) (EC 1.1.1.51) (EC 1.1.1.53) (EC 1.1.1.62) (EC 1.3.1.20) (20-alpha-hydroxysteroid dehydrogenase) (20-alpha-HSD) (EC 1.1.1.149) (Chlordecone redu
Protein function Cytosolic aldo-keto reductase that catalyzes the NADH and NADPH-dependent reduction of ketosteroids to hydroxysteroids (PubMed:19218247). Most probably acts as a reductase in vivo since the oxidase activity measured in vitro is inhibited by phys
PDB 1MRQ , 3C3U , 3GUG , 3NTY , 4YVP , 6A7A , 6IJX , 8JP2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00248 Aldo_ket_red 18 → 301 Aldo/keto reductase family Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues tested including liver, prostate, testis, adrenal gland, brain, uterus, mammary gland and keratinocytes. Highest levels found in liver, mammary gland and brain. {ECO:0000269|PubMed:10998348, ECO:0000269|PubMed:
Sequence 
MDSKYQCVKLNDGHFMPVLGFGTYAPAEVPKSKALEATKLAIEAGFRHIDSAHLYNNEEQ
VGLAIRSKIADGSVKREDIFYTSKLWCNSHRPELVRPALERSLKNLQLDYVDLYLIHFPV
SVKPGEEVIPKDENGKILFDTVDLCATWEAVEKCKDAGLAKSIGVSNFNRRQLEMILNKP
GLKYKPVCNQVECHPYFNQRKLLDFCKSKDIVLVAYSALGSHREEPWVDPNSPVLLEDPV
LCALAKKHKRTPALIALRYQLQRGVVVLAKSYNEQRIRQNVQVFEFQLTSEEMKAIDGLN
RNVRYLTLDIFAGPPNYPFSDEY
Sequence length 323
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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KEGG Pathway Reactome Pathway
Steroid hormone biosynthesis Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
Metabolism of xenobiotics by cytochrome P450 Synthesis of bile acids and bile salts via 24-hydroxycholesterol
Metabolic pathways Synthesis of bile acids and bile salts via 27-hydroxycholesterol
Chemical carcinogenesis - reactive oxygen species Retinoid metabolism and transport
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (7)
Phenotype Name Clinical Significance Source Reference Evidence Score
CARCINOMA, NON-SMALL-CELL LUNG — CTD 17094902
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DISORDERS OF SEX DEVELOPMENT — CTD, Disgenet
CTD, Disgenet 		25304492
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASMS — CTD 16338060
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS — CTD, Disgenet
CTD, Disgenet 		21232532
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LARYNGEAL SQUAMOUS CELL CARCINOMA — GWAS catalog 32276964
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (141)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma, Clear Cell Adenocarcinoma BEFREE 15790446
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult type dermatomyositis Dermatomyositis BEFREE 11359403
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult type dermatomyositis Dermatomyositis CTD_human_DG 11359403
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration CTD_human_DG 24036952
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration GWASCAT_DG 26691988
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 27918759, 29767720
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 26626881, 36471423 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Ambiguous Genitalia Ambiguous Genitalia CTD_human_DG 25304492
★★★★★
★☆☆☆☆
Found in Text Mining only
Antibody Deficiency Syndrome Antibody Deficiency Syndrome CTD_human_DG 11359403, 9570574
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 24390875
★★★★★
★☆☆☆☆
Found in Text Mining only
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AKR1C3 3 shared diseasesDisorders of sex development, Endometrial neoplasms, Polycystic ovary syndrome 6 shared pathwaysSteroid hormone biosynthesis, Chemical carcinogenesis - reactive oxygen species, Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol, Retinoid metabolism and transport, Synthesis of bile acids and bile salts via 27-hydroxycholesterol, Synthesis of bile acids and bile salts via 24-hydroxycholesterol 7 shared evidence sourcesCTD (Disorders of sex development), Disgenet (Disorders of sex development), CTD (Endometrial neoplasms), CTD (Endometriosis), Disgenet (Endometriosis), CTD (Polycystic ovary syndrome), Disgenet (Polycystic ovary syndrome) Related via 6 shared pathways including Steroid hormone biosynthesis, Chemical carcinogenesis - reactive oxygen species — evidence mostly CTD. AKR1C2 2 shared diseasesDisorders of sex development, Polycystic ovary syndrome 5 shared pathwaysSteroid hormone biosynthesis, Chemical carcinogenesis - reactive oxygen species, Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol, Synthesis of bile acids and bile salts via 27-hydroxycholesterol, Synthesis of bile acids and bile salts via 24-hydroxycholesterol 7 shared evidence sourcesCTD (Disorders of sex development), Disgenet (Disorders of sex development), CTD (Endometriosis), Disgenet (Endometriosis), CTD (Osteoarthritis), CTD (Polycystic ovary syndrome), Disgenet (Polycystic ovary syndrome) Related via 5 shared pathways including Steroid hormone biosynthesis, Chemical carcinogenesis - reactive oxygen species — evidence mostly CTD. CCNB1 2 shared diseasesNon-small-cell lung carcinoma, Polycystic ovary syndrome 3 shared evidence sourcesCTD (Non-small-cell lung carcinoma), CTD (Polycystic ovary syndrome), Disgenet (Polycystic ovary syndrome) Related via 2 shared diseases including Non-small-cell lung carcinoma, Polycystic ovary syndrome — evidence mostly CTD. CHFR 2 shared diseasesNon-small-cell lung carcinoma, Endometrial neoplasms 2 shared evidence sourcesCTD (Non-small-cell lung carcinoma), CTD (Endometrial neoplasms) Related via 2 shared diseases including Non-small-cell lung carcinoma, Endometrial neoplasms — evidence mostly CTD. SRSF10 2 shared diseasesEndometrial neoplasms, Polycystic ovary syndrome 3 shared evidence sourcesCTD (Endometrial neoplasms), CTD (Polycystic ovary syndrome), Disgenet (Polycystic ovary syndrome) Related via 2 shared diseases including Endometrial neoplasms, Polycystic ovary syndrome — evidence mostly CTD.
Autism Linked via 2 of 5 related genesAKR1C3, AKR1C2 Central nervous system cancer Linked via 2 of 5 related genesAKR1C3, AKR1C2 Glioblastoma Linked via 2 of 5 related genesAKR1C3, AKR1C2 Glioma Linked via 2 of 5 related genesAKR1C3, AKR1C2 Obesity Linked via 2 of 5 related genesAKR1C3, SRSF10