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AKR1C4 - aldo-keto reductase family 1 member C4 Gene

Also Known as C11; CDR; DD4; CHDR; DD-4; HAKRA; 3-alpha-HSD

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1109

About AKR1C4

Cytogenetic location: 10p15.1 Genomic coordinates (GRCh38): 10:5,196,837-5,218,949 (from NCBI)

This gene has 3 transcripts (splice variants), 484 orthologues, 16 paralogues and is associated with 2 phenotypes. Restricted expression toward liver (RPKM 165.8).

Summary

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 cofactors. The Enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the bioreduction of chlordecone, a toxic organochlorine pesticide, to chlordecone alcohol in liver. This gene shares high sequence identity with three Other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008]

AKR1C4 Products (1)

mRNA	Protein	Name
NM_001818.5	NP_001809.4	aldo-keto reductase family 1 member C4

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables androsterone dehydrogenase activity	IDA IDA: Inferred from direct assay	21851338	GOA
enables chlordecone reductase activity	IDA IDA: Inferred from direct assay	2427522	GOA
enables oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor	IDA IDA: Inferred from direct assay	20837989	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA
enables retinal dehydrogenase activity	IDA IDA: Inferred from direct assay	21851338	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to jasmonic acid stimulus	IDA IDA: Inferred from direct assay	19487289	GOA
involved in daunorubicin metabolic process	IMP IMP: Inferred from mutant phenotype	20837989	GOA
involved in doxorubicin metabolic process	IMP IMP: Inferred from mutant phenotype	20837989	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AKR1C4 Protein Structure

Aldo_ket_red

0
100
200
300
323 a.a.

Protein Preferred Names	Protein Names
aldo-keto reductase family 1 member C4	3-alpha-HSD1

AKR1C4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	AKR1C4	P17516	PLXDC2	Homo sapiens	Q6UX71	Anti Tag CoIP	33961781
Intra	AKR1C4	P17516	PLXDC2	Homo sapiens	Q6UX71	Anti Tag CoIP	28514442
Intra	AKR1C4	P17516	AKR1C3	Homo sapiens	P42330	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant AKR1C4 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7470	AKR1C4 Protein, Human (His)	P17516 (M1-Y323)	≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
46,Xy Sex Reversal 8	SRXY8 Male Pseudohermaphroditism Due To Deficiency Of Testicular 17,20-Desmolase Tdd 46,Xy Disorder Of Sex Development Due To Testicular 17,20-Desmolase Deficiency 46xy Sex Reversal 8 46xy Sex Reversal 8, Modifier Of Male Pseudohermaphroditism: Deficiency Of Testicular 17,20-Desmolase
46,Xy Sex Reversal	Swyer Syndrome Pure Gonadal Dysgenesis 46,Xy Gonadal Dysgenesis, Xy Female Type Gonadal Dysgenesis, 46,Xy 46,Xy Cgd 46,Xy Complete Gonadal Dysgenesis 46,Xy Pure Gonadal Dysgenesis 46 Xy Gonadal Dysgenesis 46, Xy Cgd 46, Xy Complete Gonadal Dysgenesis 46, Xy Pure Gonadal Dysgenesis Xy Pure Gonadal Dysgenesis Female With 46,Xy Karyotype Xy Females
Cloacal Exstrophy	Oeis Complex Omphalocele-Cloacal Exstrophy-Imperforate Anus-Spinal Defect Syndrome Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects Compl Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects Complex Cloacal Exstrophy Sequence Omphalocele - Cloacal Exstrophy - Imperforate Anus - Spinal Defect Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects Omphalocele Exstrophy Imperforate Anus
Bile Acid Synthesis Defect, Congenital, 3	Congenital Bile Acid Synthesis Defect 3 CBAS3 Oxysterol 7-Alpha-Hydroxylase Deficiency Congenital Bile Acid Synthesis Defect Type 3 Basd3 Bile Acid Synthesis Defect, Congenital, Type 3
Cytochrome P450 Oxidoreductase Deficiency	Por Deficiency Pord Antley-Bixler Syndrome With Disordered Steroidogenesis Antley-Bixler Syndrome Antley-Bixler Syndrome-Like Phenotype With Disordered Steroidogenesis Combined Partial Deficiency Of 17-Hydroxylase And 21-Hydroxylase Congenital Adrenal Hyperplasia Due To Apparent Combined P450c17 And P450c21 Deficiency Antley-Bixler Syndrome, Autosomal Dominant
Lipoid Congenital Adrenal Hyperplasia	Congenital Adrenal Hyperplasia Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency Congenital Lipoid Adrenal Hyperplasia Lipoid Cah Lipoid Adrenal Hyperplasia Adrenal Hyperplasia 1 Cah Clah LCAH Adrenal Hyperplasia I Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism Congenital Adrenal Hyperplasia Lipoid Adrenal Hyperplasia, Congenital Congenital Adrenal Hyperplasia, Lipoid AH1 Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism Adrenal Hyperplasia Congenital Hyperplasia, Adrenal, Lipoid, Congenital Congenital Adrenogenital Disorders Associated With Enzyme Deficiency Congenital Adrenal Cortical Hyperplasia Congenital Adrenal Gland Hyperplasia Congenital Adrenogenital Syndrome Congenital Hyperadrenocorticism Congenital Adrenogenitalism Congenital Female Adrenal Pseudohermaphroditism

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (9)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-150644	S07-2010		98.35%	Unkown
HY-P2901	3α-Hydroxysteroid Dehydrogenase, Microorganism		≥90.0%	Unkown
HY-W069545	(S)-1-Tetralol		99.75%	Unkown
HY-123732	CRT0083914		/	Unkown
HY-150649	S07-2005 (racemic)		/	Unkown
HY-173132	AKR1Cs-IN-1		/	Unkown
HY-181542	SG-55		/	Unkown
HY-RS00537	AKR1C4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-124432	CRT0093964	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Others	AKR1C4	NCBI