InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: AKR1D1

Summary

InnateDB Protein

IDBP-386670.5

Last Modified

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

Gene Symbol

AKR1D1

Protein Name

aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)

Synonyms

3o5bred; CBAS2; SRD5B1;

Species

Homo sapiens

Ensembl Protein

ENSP00000402374

InnateDB Gene

IDBG-43140 (AKR1D1)

Protein Structure

UniProt Annotation

Function

Efficiently catalyzes the reduction of progesterone, androstenedione, 17-alpha-hydroxyprogesterone and testosterone to 5-beta-reduced metabolites. The bile acid intermediates 7- alpha,12-alpha-dihydroxy-4-cholesten-3-one and 7-alpha-hydroxy-4- cholesten-3-one can also act as substrates.

Subcellular Localization

Cytoplasm.

Disease Associations

Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]: A condition characterized by jaundice, intrahepatic cholestasis and hepatic failure. Patients with this liver disease show absence or low levels of chenodeoxycholic acid and cholic acid in plasma and urine. {ECO:0000269PubMed:12970144, ECO:0000269PubMed:15030995}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highly expressed in liver. Expressed in testis and weakly in colon. {ECO:0000269PubMed:11342103}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	0
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005496	steroid binding
GO:0047787	delta4-3-oxosteroid 5beta-reductase activity

Biological Process

GO:0006699	bile acid biosynthetic process
GO:0006707	cholesterol catabolic process
GO:0007586	digestion
GO:0008206	bile acid metabolic process
GO:0008207	C21-steroid hormone metabolic process
GO:0008209	androgen metabolic process
GO:0030573	bile acid catabolic process
GO:0044281	small molecule metabolic process
GO:0055114	oxidation-reduction process