Homo sapiens Gene: AKR1D1
Summary
InnateDB Gene IDBG-43140.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AKR1D1
Gene Name aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)
Synonyms 3o5bred; CBAS2; SRD5B1
Species Homo sapiens
Ensembl Gene ENSG00000122787
Encoded Proteins
aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)
aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)
aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)
aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme may contribute to hepatic dysfunction. Three transcript variants encoding different isoforms have been found for this gene. Other variants may be present, but their full-length natures have not been determined yet. [provided by RefSeq, Jul 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:138002324-138117986
Strand Forward strand
Band q33
Transcripts
ENST00000242375 ENSP00000242375
ENST00000432161 ENSP00000389197
ENST00000411726 ENSP00000402374
ENST00000438242 ENSP00000397042
ENST00000468877
ENST00000470851
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
Cellular Component
GO:0005829 cytosol
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Synthesis of bile acids and bile salts via 24-hydroxycholesterol pathway
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol pathway
Synthesis of bile acids and bile salts via 27-hydroxycholesterol pathway
Synthesis of bile acids and bile salts pathway
Metabolism of lipids and lipoproteins pathway
Bile acid and bile salt metabolism pathway
Metabolism pathway
KEGG
Steroid hormone biosynthesis pathway
Primary bile acid biosynthesis pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.201667
RefSeq NM_001190906 NM_001190907 NM_005989
HUGO
OMIM
CCDS CCDS55169 CCDS55170 CCDS5846
HPRD 07263
IMGT
EMBL
GenPept
RNA Seq Atlas