• Gene id: 1645

Gene Summary

• Gene Symbol: AKR1C1   Gene   UCSC   Ensembl
• Aliases: 2-ALPHA-HSD, 20-ALPHA-HSD, C9, DD1, DD1/DD2, DDH, DDH1, H-37, HAKRC, HBAB, MBAB
• Gene name: aldo-keto reductase family 1 member C1
• Alternate names: aldo-keto reductase family 1 member C1, 20 alpha-hydroxysteroid dehydrogenase, aldo-keto reductase C, chlordecone reductase homolog HAKRC, dihydrodiol dehydrogenase 1, dihydrodiol dehydrogenase 1/2, dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid,
• Gene location: 10p15.1 (4963414: 4983282)     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
• OMIM: 102579

Protein Summary

• Protein general information: Q04828  
  • Name: Aldo keto reductase family 1 member C1 (EC 1.1.1. ) (20 alpha hydroxysteroid dehydrogenase) (20 alpha HSD) (EC 1.1.1.149) (Chlordecone reductase homolog HAKRC) (Dihydrodiol dehydrogenase 1/2) (DD1/DD2) (High affinity hepatic bile acid binding protein) (HB
  • Length: 323  
  • Mass: 36788
  • Tissue specificity: Expressed in all tissues tested including liver, prostate, testis, adrenal gland, brain, uterus, mammary gland and keratinocytes. Highest levels found in liver, mammary gland and brain. {ECO
• Sequence:

  MDSKYQCVKLNDGHFMPVLGFGTYAPAEVPKSKALEATKLAIEAGFRHIDSAHLYNNEEQVGLAIRSKIADGSVK
  REDIFYTSKLWCNSHRPELVRPALERSLKNLQLDYVDLYLIHFPVSVKPGEEVIPKDENGKILFDTVDLCATWEA
  VEKCKDAGLAKSIGVSNFNRRQLEMILNKPGLKYKPVCNQVECHPYFNQRKLLDFCKSKDIVLVAYSALGSHREE
  PWVDPNSPVLLEDPVLCALAKKHKRTPALIALRYQLQRGVVVLAKSYNEQRIRQNVQVFEFQLTSEEMKAIDGLN
  RNVRYLTLDIFAGPPNYPFSDEY

• Structural information:
  • Interpro: IPR018170  IPR020471  IPR023210  IPR036812  
  • Prosite: PS00798 PS00062 PS00063
  • CDD: cd06660
  • PDB: 1MRQ 3C3U 3GUG 3NTY 4YVP 6A7A 6IJX
  • PDBsum: 1MRQ 3C3U 3GUG 3NTY 4YVP 6A7A 6IJX
  • STRING: ENSP00000370254
• Other Databases: GeneCards:  AKR1C1  Malacards:  AKR1C1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0047042	androsterone dehydrogenase (B-specific) activity	IDA	molecular function
GO:0031406	carboxylic acid binding	IDA	molecular function
GO:0018636	phenanthrene 9,10-monooxygenase activity	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0047115	trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	IDA	molecular function
GO:0042574	retinal metabolic process	IDA	biological process
GO:0008206	bile acid metabolic process	IDA	biological process
GO:0007586	digestion	IDA	biological process
GO:0047086	ketosteroid monooxygenase activity	IDA	molecular function
GO:0042448	progesterone metabolic process	IDA	biological process
GO:0032052	bile acid binding	IDA	molecular function
GO:0016655	oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor	IDA	molecular function
GO:0016655	oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor	IDA	molecular function
GO:0071395	cellular response to jasmonic acid stimulus	IDA	biological process
GO:0004032	alditol:NADP+ 1-oxidoreductase activity	IDA	molecular function
GO:0030855	epithelial cell differentiation	IDA	biological process
GO:0044598	doxorubicin metabolic process	IMP	biological process
GO:0006805	xenobiotic metabolic process	NAS	biological process
GO:0044597	daunorubicin metabolic process	IMP	biological process
GO:0042632	cholesterol homeostasis	TAS	biological process
GO:0030299	intestinal cholesterol absorption	TAS	biological process
GO:0015721	bile acid and bile salt transport	TAS	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0046683	response to organophosphorus	IEP	biological process
GO:0004033	aldo-keto reductase (NADP) activity	TAS	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	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: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:0055114	oxidation-reduction process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0047718	indanol dehydrogenase activity	IEA	molecular function
GO:0047006	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity	IEA	molecular function
GO:0047115	trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	IEA	molecular function
GO:0001523	retinoid metabolic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa00980	Metabolism of xenobiotics by cytochrome P450
hsa00140	Steroid hormone biosynthesis

Diseases

Associated diseases	References
obesity	PMID:15494612
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray