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
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesAKR1C1, 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 IDsOMIM: 600449; MGI: 1924587; HomoloGene: 134114; GeneCards: AKR1C1; OMA:AKR1C1 - orthologs
EC number1.1.1.112
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001353

NM_029901

RefSeq (protein)

NP_001344

NP_084177

Location (UCSC)Chr 10: 4.96 – 4.98 MbChr 13: 4.62 – 4.64 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Superfamily of enzymes

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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

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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

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000187134Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021207Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Ciaccio PJ, Tew KD (Jun 1994). "cDNA and deduced amino acid sequences of a human colon dihydrodiol dehydrogenase". Biochimica et Biophysica Acta (BBA) - Bioenergetics. 1186 (1–2): 129–32. doi:10.1016/0005-2728(94)90144-9. PMID 8011662.
  6. ^ a b "Entrez Gene: AKR1C1 aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)".
  7. ^ Dufort I, Labrie F, Luu-The V (February 2001). "Human types 1 and 3 3 alpha-hydroxysteroid dehydrogenases: differential lability and tissue distribution". J Clin Endocrinol Metab. 86 (2): 841–6. doi:10.1210/jcem.86.2.7216. PMID 11158055. human types 1 and 3 3α-HSD, 20α-HSD, and type 5 17β-HSD were named AKR1C4, AKR1C2, AKR1C1, and AKR1C3, respectively

See also

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Further reading

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