Entity Details

Primary name AKR1D1
Entity type gene
Source Source Link

Details

PrimaryID6718
RefseqGeneNG_023342
SymbolAKR1D1
Namealdo-keto reductase family 1 member D1
Chromosome7
Location7q33
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-11-15
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsAK1D1_HUMAN

GO terms

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GOName
GO:0004032 alditol:NADP+ 1-oxidoreductase activity
GO:0005496 steroid binding
GO:0005829 cytosol
GO:0006699 bile acid biosynthetic process
GO:0006707 cholesterol catabolic process
GO:0007586 digestion
GO:0008202 steroid metabolic process
GO:0008207 C21-steroid hormone metabolic process
GO:0008209 androgen metabolic process
GO:0016229 steroid dehydrogenase activity
GO:0030573 bile acid catabolic process
GO:0047086 ketosteroid monooxygenase activity
GO:0047787 delta4-3-oxosteroid 5beta-reductase activity
GO:0047834 D-threo-aldose 1-dehydrogenase activity

Diseases

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Disease IDSourceNameDescription
235555 OMIMCongenital bile acid synthesis defect 2 (CBAS2)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

8 interactions

InteractorPartnerSourcesPublicationsLink
AKR1D1APLNRBioGRID, IntAct28514442 details
AKR1D1SIRT1BioGRID, IntAct26186194 28514442 details
AKR1D1GEMIN5BioGRID, IntAct26186194 28514442 details
AKR1D1DIRAS1BioGRID, IntAct26186194 28514442 details
AKR1D1AKR1B10BioGRID, IntAct26186194 28514442 details
AKR1D1AKR1C3BioGRID, IntAct26186194 28514442 details
AKR1D1AKR1C1BioGRID, IntAct26186194 28514442 details
AKR1D1PLXDC2BioGRID26186194 details