InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: AKR1C4

Summary

InnateDB Protein

IDBP-48457.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

AKR1C4

Protein Name

aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)

Synonyms

3-alpha-HSD; C11; CDR; CHDR; DD-4; DD4; HAKRA;

Species

Homo sapiens

Ensembl Protein

ENSP00000263126

InnateDB Gene

IDBG-48453 (AKR1C4)

Protein Structure

UniProt Annotation

Function

Catalyzes 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.

Subcellular Localization

Cytoplasm.

Disease Associations

46,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:0000269PubMed: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:0000269PubMed:21802064}.

Tissue Specificity

Liver specific. {ECO:0000269PubMed:11158055, ECO:0000269PubMed:7650035}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.

Experimentally validated
Total	5 [view]
Protein-Protein	2 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001758	retinal dehydrogenase activity
GO:0004033	aldo-keto reductase (NADP) activity
GO:0009055	electron carrier activity
GO:0015125	bile acid transmembrane transporter activity
GO:0016655	oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor
GO:0047023	androsterone dehydrogenase activity
GO:0047743	chlordecone reductase activity

Biological Process

GO:0001523	retinoid metabolic process
GO:0006699	bile acid biosynthetic process
GO:0007603	phototransduction, visible light
GO:0008202	steroid metabolic process
GO:0008206	bile acid metabolic process
GO:0008209	androgen metabolic process
GO:0015721	bile acid and bile salt transport
GO:0044281	small molecule metabolic process
GO:0044597	daunorubicin metabolic process
GO:0044598	doxorubicin metabolic process
GO:0055114	oxidation-reduction process
GO:0071395	cellular response to jasmonic acid stimulus