Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8644
Gene name Gene Name - the full gene name approved by the HGNC.
Aldo-keto reductase family 1 member C3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AKR1C3
Synonyms (NCBI Gene) Gene synonyms aliases
DD3, DDX, HA1753, HAKRB, HAKRe, HSD17B5, PGFS, hluPGFS
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10p15.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
miRTarBase ID miRNA Experiments Reference
MIRT020887 hsa-miR-155-5p Proteomics 18668040
MIRT027720 hsa-miR-98-5p Microarray 19088304
MIRT776290 hsa-miR-1207-3p CLIP-seq
MIRT776291 hsa-miR-184 CLIP-seq
MIRT776292 hsa-miR-190 CLIP-seq
Transcription factors
Transcription factor Regulation Reference
AR Repression 22971343
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001523 Process Retinoid metabolic process TAS
GO:0001758 Function Retinal dehydrogenase (NAD+) activity IDA 21851338
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603966 386 ENSG00000196139
Protein
UniProt ID P42330
Protein name Aldo-keto reductase family 1 member C3 (EC 1.1.1.-) (EC 1.1.1.210) (EC 1.1.1.53) (EC 1.1.1.62) (17-beta-hydroxysteroid dehydrogenase type 5) (17-beta-HSD 5) (3-alpha-HSD type II, brain) (3-alpha-hydroxysteroid dehydrogenase type 2) (3-alpha-HSD type 2) (E
Protein function Cytosolic aldo-keto reductase that catalyzes the NADH and NADPH-dependent reduction of ketosteroids to hydroxysteroids. Acts as a NAD(P)(H)-dependent 3-, 17- and 20-ketosteroid reductase on the steroid nucleus and side chain and regulates the me
PDB 1RY0 , 1RY8 , 1S1P , 1S1R , 1S2A , 1S2C , 1XF0 , 1ZQ5 , 2F38 , 2FGB , 3R43 , 3R58 , 3R6I , 3R7M , 3R8G , 3R8H , 3R94 , 3UFY , 3UG8 , 3UGR , 3UWE , 4DBS , 4DBU , 4DBW , 4DZ5 , 4FA3 , 4FAL , 4FAM , 4H7C , 4HMN , 4WDT , 4WDU , 4WDW , 4WDX , 4WRH , 4XVD , 4XVE , 4YVV , 4YVX , 4ZFC , 5HNT , 5HNU , 6A7B , 6F2U , 6F78 , 6GXK , 7C7F , 7C7G , 7C7H , 7WQM , 7WQR
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 many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. High expression in prostate and mammary gland. In the prostate, higher levels
Sequence
Sequence length 323
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Steroid hormone biosynthesis
Arachidonic acid metabolism
Folate biosynthesis
Metabolic pathways
Ovarian steroidogenesis
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
Synthesis of Prostaglandins (PG) and Thromboxanes (TX)
RA biosynthesis pathway
Retinoid metabolism and transport
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Glioblastoma Glioblastoma N/A N/A GWAS
Ovarian cancer Epithelial ovarian cancer N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 21134280, 22670171, 24228104, 33371142
Adenocarcinoma of Lung Associate 24228104
Adrenal Gland Neoplasms Associate 19026713
Adrenal Insufficiency Associate 33444228
Adrenocortical Adenoma Inhibit 19026713
Adrenocortical Carcinoma Associate 19026713
Alcoholism Associate 21323680
Anemia Associate 39596349
Arthropathy progressive pseudorheumatoid of childhood Associate 31213128
Asthma Associate 10622721