• Gene id: 6718

Gene Summary

• Gene Symbol: AKR1D1   Gene   UCSC   Ensembl
• Aliases: 3o5bred, CBAS2, SRD5B1
• Gene name: aldo-keto reductase family 1 member D1
• Alternate names: aldo-keto reductase family 1 member D1, delta(4)-3-ketosteroid 5-beta-reductase, delta(4)-3-oxosteroid 5-beta-reductase, steroid-5-beta-reductase, beta polypeptide 1 (3-oxo-5 beta-steroid delta 4-dehydrogenase beta 1),
• Gene location: 7q33 (138076458: 138118304)     Exons: 9     NC_000007.14
• Gene summary(Entrez): 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
• OMIM: 605921

Protein Summary

• Protein general information: P51857  
  • Name: Aldo keto reductase family 1 member D1 (EC 1.3.1.3) (3 oxo 5 beta steroid 4 dehydrogenase) (Delta(4) 3 ketosteroid 5 beta reductase) (Delta(4) 3 oxosteroid 5 beta reductase)
  • Length: 326  
  • Mass: 37377
  • Tissue specificity: Highly expressed in liver. Expressed in testis and weakly in colon. {ECO
• Sequence:

  MDLSAASHRIPLSDGNSIPIIGLGTYSEPKSTPKGACATSVKVAIDTGYRHIDGAYIYQNEHEVGEAIREKIAEG
  KVRREDIFYCGKLWATNHVPEMVRPTLERTLRVLQLDYVDLYIIEVPMAFKPGDEIYPRDENGKWLYHKSNLCAT
  WEAMEACKDAGLVKSLGVSNFNRRQLELILNKPGLKHKPVSNQVECHPYFTQPKLLKFCQQHDIVITAYSPLGTS
  RNPIWVNVSSPPLLKDALLNSLGKRYNKTAAQIVLRFNIQRGVVVIPKSFNLERIKENFQIFDFSLTEEEMKDIE
  ALNKNVRFVELLMWRDHPEYPFHDEY

• Structural information:
  • Interpro: IPR018170  IPR020471  IPR023210  IPR036812  
  • Prosite: PS00798 PS00062 PS00063
  • CDD: cd06660
  • PDB: 3BUR 3BUV 3BV7 3CAQ 3CAS 3CAV 3CMF 3COT 3DOP 3G1R 3UZW 3UZX 3UZY 3UZZ
  • PDBsum: 3BUR 3BUV 3BV7 3CAQ 3CAS 3CAV 3CMF 3COT 3DOP 3G1R 3UZW 3UZX 3UZY 3UZZ
  • STRING: ENSP00000242375
• Other Databases: GeneCards:  AKR1D1  Malacards:  AKR1D1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0047086	ketosteroid monooxygenase activity	IBA	molecular function
GO:0016229	steroid dehydrogenase activity	IBA	molecular function
GO:0008106	alcohol dehydrogenase (NADP+) activity	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0016491	oxidoreductase activity	IBA	molecular function
GO:0008209	androgen metabolic process	IBA	biological process
GO:0008202	steroid metabolic process	IBA	biological process
GO:0004032	alditol:NADP+ 1-oxidoreductase activity	IBA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0008202	steroid metabolic process	IEA	biological process
GO:0016042	lipid catabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0030573	bile acid catabolic process	IEA	biological process
GO:0047787	delta4-3-oxosteroid 5beta-reductase activity	IEA	molecular function
GO:0006699	bile acid biosynthetic process	IDA	biological process
GO:0004033	aldo-keto reductase (NADP) activity	TAS	molecular function
GO:0004033	aldo-keto reductase (NADP) activity	TAS	molecular function
GO:0004033	aldo-keto reductase (NADP) activity	TAS	molecular function
GO:0004033	aldo-keto reductase (NADP) activity	TAS	molecular function
GO:0004033	aldo-keto reductase (NADP) activity	TAS	molecular function
GO:0004033	aldo-keto reductase (NADP) activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006699	bile acid biosynthetic process	TAS	biological process
GO:0006699	bile acid biosynthetic process	TAS	biological process
GO:0006699	bile acid biosynthetic process	TAS	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0008207	C21-steroid hormone metabolic process	IDA	biological process
GO:0006707	cholesterol catabolic process	IDA	biological process
GO:0006699	bile acid biosynthetic process	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0008209	androgen metabolic process	IDA	biological process
GO:0007586	digestion	IDA	biological process
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0005496	steroid binding	TAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00140	Steroid hormone biosynthesis
hsa00120	Primary bile acid biosynthesis

Diseases

Associated diseases	References
Congenital bile acid synthesis defect	KEGG:H00628
Congenital bile acid synthesis defect	KEGG:H00628
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq