MGP Database

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MGP000541

UniProt Annotations

Entry Information
Gene Namealdo-keto reductase family 1, member C4
Protein EntryAK1C4_HUMAN
UniProt IDP17516
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityA 3-alpha-hydroxysteroid + NAD(P)(+) = a 3- oxosteroid + NAD(P)H.
Catalytic ActivityChlordecone alcohol + NADP(+) = chlordecone + NADPH.
Disease46,XY sex reversal 8 (SRXY8) [MIM:614279]: A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females. {ECO:0000269|PubMed:21802064}. Note=The gene represented in this entry may act as a disease modifier. A splicing mutation resulting in loss of AKR1C4 exon 2 has been found in affected individuals carrying a causative mutation in AKR1C2 (PubMed:21802064). These patients manifest a more severe disease phenotype than individuals only carrying mutations in AKR1C2. {ECO:0000269|PubMed:21802064}.
FunctionCatalyzes the transformation of the potent androgen dihydrotestosterone (DHT) into the less active form, 5-alpha- androstan-3-alpha,17-beta-diol (3-alpha-diol). Also has some 20- alpha-hydroxysteroid dehydrogenase activity. The biotransformation of the pesticide chlordecone (kepone) to its corresponding alcohol leads to increased biliary excretion of the pesticide and concomitant reduction of its neurotoxicity since bile is the major excretory route.
PolymorphismThe allele with Cys-145/Val-311 shows a three- to five-fold decrease in catalytic efficiency for xenobiotic and steroidal substrates compared to the Ser-145/Leu-311 allele.
PtmThe N-terminus is blocked.
Sequence CautionSequence=AAA35658.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
SimilarityBelongs to the aldo/keto reductase family. {ECO:0000305}.
Subcellular LocationCytoplasm.
SubunitMonomer. {ECO:0000269|Ref.13}.
Tissue SpecificityLiver specific. {ECO:0000269|PubMed:11158055, ECO:0000269|PubMed:7650035}.
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