• Gene id: 1109

Gene Summary

• Gene Symbol: AKR1C4   Gene   UCSC   Ensembl
• Aliases: 3-alpha-HSD, C11, CDR, CHDR, DD-4, DD4, HAKRA
• Gene name: aldo-keto reductase family 1 member C4
• Alternate names: aldo-keto reductase family 1 member C4, 3-alpha-HSD1, chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4, dihydrodiol dehydrogenase isozyme DD4, type I 3-alpha-hydroxysteroid dehydrogenase,
• Gene location: 10p15.1 (5196836: 5218948)     Exons: 9     NC_000010.11
• Gene summary(Entrez): This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as

Protein Summary

• Protein general information: P17516  
  • Name: Aldo keto reductase family 1 member C4 (EC 1.1.1. ) (3 alpha HSD1) (3 alpha hydroxysteroid dehydrogenase type I) (EC 1.1.1.357) (Chlordecone reductase) (CDR) (EC 1.1.1.225) (Dihydrodiol dehydrogenase 4) (DD 4) (DD4) (HAKRA)
  • Length: 323  
  • Mass: 37067
  • Tissue specificity: Liver specific. {ECO
• Sequence:

  MDPKYQRVELNDGHFMPVLGFGTYAPPEVPRNRAVEVTKLAIEAGFRHIDSAYLYNNEEQVGLAIRSKIADGSVK
  REDIFYTSKLWCTFFQPQMVQPALESSLKKLQLDYVDLYLLHFPMALKPGETPLPKDENGKVIFDTVDLSATWEV
  MEKCKDAGLAKSIGVSNFNCRQLEMILNKPGLKYKPVCNQVECHPYLNQSKLLDFCKSKDIVLVAHSALGTQRHK
  LWVDPNSPVLLEDPVLCALAKKHKQTPALIALRYQLQRGVVVLAKSYNEQRIRENIQVFEFQLTSEDMKVLDGLN
  RNYRYVVMDFLMDHPDYPFSDEY

• Structural information:
  • Interpro: IPR018170  IPR020471  IPR023210  IPR036812  
  • Prosite: PS00798 PS00062 PS00063
  • CDD: cd06660
  • PDB: 2FVL
  • PDBsum: 2FVL
  • STRING: ENSP00000369814
• Other Databases: GeneCards:  AKR1C4  Malacards:  AKR1C4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0047023	androsterone dehydrogenase activity	IBA	molecular function
GO:0044597	daunorubicin metabolic process	IBA	biological process
GO:0016491	oxidoreductase activity	IBA	molecular function
GO:0008207	C21-steroid hormone metabolic process	IBA	biological process
GO:0008202	steroid metabolic process	IBA	biological process
GO:0004032	alditol:NADP+ 1-oxidoreductase activity	IBA	molecular function
GO:0047086	ketosteroid monooxygenase activity	IBA	molecular function
GO:0044598	doxorubicin metabolic process	IBA	biological process
GO:0042448	progesterone metabolic process	IBA	biological process
GO:0032052	bile acid binding	IBA	molecular function
GO:0016229	steroid dehydrogenase activity	IBA	molecular function
GO:0008106	alcohol dehydrogenase (NADP+) activity	IBA	molecular function
GO:0006693	prostaglandin metabolic process	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0015125	bile acid transmembrane transporter activity	TAS	molecular function
GO:0004033	aldo-keto reductase (NADP) activity	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0008202	steroid metabolic process	TAS	biological process
GO:0008209	androgen metabolic process	TAS	biological process
GO:0015721	bile acid and bile salt transport	TAS	biological process
GO:0047743	chlordecone reductase activity	IEA	molecular function
GO:0001523	retinoid metabolic process	TAS	biological process
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: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:0022900	electron transport chain	IEA	biological process
GO:0071395	cellular response to jasmonic acid stimulus	IDA	biological process
GO:0016655	oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor	IDA	molecular function
GO:0047023	androsterone dehydrogenase activity	IDA	molecular function
GO:0001758	retinal dehydrogenase activity	IDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0044598	doxorubicin metabolic process	IMP	biological process
GO:0044597	daunorubicin metabolic process	IMP	biological process
GO:0009055	electron transfer activity	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
46,XY gonadal dysgenesis	KEGG:H00607
46,XY gonadal dysgenesis	KEGG:H00607
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray