AKR1C1 (aldo-keto reductase family 1 member C1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
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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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (54)
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.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600449 384 ENSG00000187134
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Sequence length 323
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Steroid hormone biosynthesis
Metabolism of xenobiotics by cytochrome P450
Metabolic pathways
Chemical carcinogenesis - reactive oxygen species 		  Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
Synthesis of bile acids and bile salts via 24-hydroxycholesterol
Synthesis of bile acids and bile salts via 27-hydroxycholesterol
Retinoid metabolism and transport
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Unknown Diseases (8)
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.
Phenotype Name Clinical Significance Source Evidence Score
CARCINOMA, NON-SMALL-CELL LUNG — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DISORDERS OF SEX DEVELOPMENT — CTD, Disgenet
CTD, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASMS — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS — CTD, Disgenet
CTD, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (141)
Associations from Text Mining Disease associations identified through text mining
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