AKR1C1

Aldo-keto reductase family 1 member C1 also known as 20α-hydroxysteroid dehydrogenase, 3α-hydroxysteroid dehydrogenase, and dihydrodiol dehydrogenase 1/2 is an enzyme that in humans is encoded by the AKR1C1 gene.^[5][6]

AKR1C1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1MRQ, 3C3U, 3GUG, 3NTY, 4YVP
Identifiers
Aliases	AKR1C1, 2-ALPHA-HSD, 20-ALPHA-HSD, C9, DD1, DD1/DD2, DDH, DDH1, H-37, HAKRC, HBAB, MBAB, aldo-keto reductase family 1, member C1, aldo-keto reductase family 1 member C1
External IDs	OMIM: 600449; MGI: 1924587; HomoloGene: 134114; GeneCards: AKR1C1; OMA:AKR1C1 - orthologs
EC number	1.1.1.112
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10p15.1 Start 4,963,253 bp[1] End 4,983,283 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13|13 A1 Start 4,624,074 bp[2] End 4,636,540 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in islet of Langerhans gastric mucosa right lobe of liver right auricle of heart olfactory zone of nasal mucosa body of stomach left coronary artery ascending aorta Descending thoracic aorta gallbladder Top expressed in right kidney human kidney proximal tubule morula embryo primary oocyte primary visual cortex secondary oocyte blastocyst muscle of thigh More reference expression data BioGPS More reference expression data
Gene ontology Molecular function trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity alditol:NADP+ 1-oxidoreductase activity indanol dehydrogenase activity aldo-keto reductase (NADP) activity 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity androsterone dehydrogenase (B-specific) activity phenanthrene 9,10-monooxygenase activity oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor bile acid binding protein binding carboxylic acid binding oxidoreductase activity ketosteroid monooxygenase activity alcohol dehydrogenase (NADP+) activity steroid dehydrogenase activity Cellular component cytoplasm cytosol extracellular exosome Biological process cellular response to jasmonic acid stimulus epithelial cell differentiation daunorubicin metabolic process doxorubicin metabolic process progesterone metabolic process bile acid metabolic process digestion retinal metabolic process retinoid metabolic process response to organophosphorus bile acid and bile salt transport intestinal cholesterol absorption xenobiotic metabolic process cholesterol homeostasis protein homooligomerization steroid metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1645 77337 Ensembl ENSG00000187134 ENSMUSG00000021207 UniProt Q04828 Q91WR5 RefSeq (mRNA) NM_001353 NM_029901 RefSeq (protein) NP_001344 NP_084177 Location (UCSC) Chr 10: 4.96 – 4.98 Mb Chr 13: 4.62 – 4.64 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Superfamily of enzymes

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 cofactors. The enzymes display overlapping but distinct substrate specificity. This specific enzyme, AKR1C1, among other reactions, catalyzes the reduction of progesterone to the inactive form 20-alpha-hydroxy-progesterone. The AKR1C1 gene shares high sequence identity with three other gene members, and is clustered with those three genes at chromosome 10p15-p14.^[6]

Isozymes of aldo-keto reductase family 1 member C

HGNC Gene Symbol	Enzyme Name Aliases[7]
AKR1C1	aldo-keto reductase family 1 member C1; 20α-hydroxysteroid dehydrogenase
AKR1C2	aldo-keto reductase family 1 member C2; 3α-hydroxysteroid dehydrogenase type 3
AKR1C3	aldo-keto reductase family 1 member C3; 3α-hydroxysteroid dehydrogenase type 2; 17β-hydroxysteroid dehydrogenase type 5; HSD17B5
AKR1C4	aldo-keto reductase family 1 member C4; 3α-hydroxysteroid dehydrogenase type 1