Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1109
Gene name	Aldo-keto reductase family 1 member C4
Gene symbol	AKR1C4
Synonyms (NCBI Gene)	3-alpha-HSDC11CDRCHDRDD-4DD4HAKRA
Chromosome	10
Chromosome location	10p15.1
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

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs398122815	G>T	Risk-factor	Intron variant

Show/Hide all (3)

Transcription factor	Regulation	Reference
HNF1A	Unknown	11284743
HNF4A	Unknown	11284743
HNF4G	Unknown	11284743

Show/Hide all (43)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001523	Process	Retinoid metabolic process	TAS
GO:0001758	Function	Retinal dehydrogenase (NAD+) activity	IDA	21851338
GO:0004032	Function	Aldose reductase (NADPH) activity	IBA
GO:0004303	Function	Estradiol 17-beta-dehydrogenase [NAD(P)+] activity	IEA
GO:0005515	Function	Protein binding	IPI	28514442, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	2187532
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006066	Process	Alcohol metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006693	Process	Prostaglandin metabolic process	IBA
GO:0006699	Process	Bile acid biosynthetic process	TAS
GO:0008106	Function	Alcohol dehydrogenase (NADP+) activity	TAS	7650035
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008202	Process	Steroid metabolic process	TAS	8274401
GO:0008209	Process	Androgen metabolic process	TAS	7650035
GO:0009055	Function	Electron transfer activity	TAS	8172617
GO:0015125	Function	Bile acid transmembrane transporter activity	TAS	8172617
GO:0015721	Process	Bile acid and bile salt transport	TAS	8172617
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016655	Function	Oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor	IDA	20837989
GO:0032052	Function	Bile acid binding	IBA
GO:0032787	Process	Monocarboxylic acid metabolic process	IEA
GO:0042445	Process	Hormone metabolic process	IEA
GO:0042448	Process	Progesterone metabolic process	IBA
GO:0044597	Process	Daunorubicin metabolic process	IBA
GO:0044597	Process	Daunorubicin metabolic process	IMP	20837989
GO:0044598	Process	Doxorubicin metabolic process	IBA
GO:0044598	Process	Doxorubicin metabolic process	IMP	20837989
GO:0047023	Function	Androsterone dehydrogenase [NAD(P)+] activity	IBA
GO:0047023	Function	Androsterone dehydrogenase [NAD(P)+] activity	IDA	21851338
GO:0047023	Function	Androsterone dehydrogenase [NAD(P)+] activity	IEA
GO:0047024	Function	5-alpha-androstane-3-beta,17-beta-diol dehydrogenase (NADP+) activity	IEA
GO:0047035	Function	Testosterone dehydrogenase (NAD+) activity	IEA
GO:0047044	Function	Androstan-3-alpha,17-beta-diol dehydrogenase (NAD+) activity	IEA
GO:0047045	Function	Testosterone dehydrogenase (NADP+) activity	IEA
GO:0047086	Function	Ketosteroid monooxygenase activity	IBA
GO:0047743	Function	Chlordecone reductase activity	IDA	2427522
GO:0047743	Function	Chlordecone reductase activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0071395	Process	Cellular response to jasmonic acid stimulus	IDA	19487289

MIM	HGNC	e!Ensembl
600451	387	ENSG00000198610

P17516

Protein name

Aldo-keto reductase family 1 member C4 (EC 1.1.1.-) (EC 1.1.1.209) (EC 1.1.1.210) (EC 1.1.1.51) (EC 1.1.1.53) (EC 1.1.1.62) (3-alpha-hydroxysteroid dehydrogenase type I) (3-alpha-HSD1) (EC 1.1.1.357) (3alpha-hydroxysteroid 3-dehydrogenase) (Chlordecone re

Protein function

Cytosolic aldo-keto reductase that catalyzes the NADH and NADPH-dependent reduction of ketosteroids to hydroxysteroids. Liver specific enzyme that acts as an NAD(P)(H)-dependent 3-, 17- and 20-ketosteroid reductase on the steroid nucleus and sid

PDB

2FVL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00248	Aldo_ket_red	18 → 301	Aldo/keto reductase family	Domain

Tissue specificity

TISSUE SPECIFICITY: Liver specific. {ECO:0000269|PubMed:10998348, ECO:0000269|PubMed:11158055, ECO:0000269|PubMed:7650035}.

Sequence

MDPKYQRVELNDGHFMPVLGFGTYAPPEVPRNRAVEVTKLAIEAGFRHIDSAYLYNNEEQ
VGLAIRSKIADGSVKREDIFYTSKLWCTFFQPQMVQPALESSLKKLQLDYVDLYLLHFPM
ALKPGETPLPKDENGKVIFDTVDLSATWEVMEKCKDAGLAKSIGVSNFNCRQLEMILNKP
GLKYKPVCNQVECHPYLNQSKLLDFCKSKDIVLVAHSALGTQRHKLWVDPNSPVLLEDPV
LCALAKKHKQTPALIALRYQLQRGVVVLAKSYNEQRIRENIQVFEFQLTSEDMKVLDGLN
RNYRYVVMDFLMDHPDYPFSDEY

Sequence length

323

Interactions

View interactions

	KEGG		Reactome
	Primary bile acid biosynthesis Steroid hormone biosynthesis Metabolic pathways Chemical carcinogenesis - reactive oxygen species		Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol Synthesis of bile acids and bile salts via 24-hydroxycholesterol Synthesis of bile acids and bile salts via 27-hydroxycholesterol Retinoid metabolism and transport

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency	risk factor	rs398122815	RCV000022971
AKR1C4-related disorder	Uncertain significance; Likely benign; Benign	rs782102398, rs534769965, rs139370478, rs529198618, rs373084142, rs782431356, rs146088459, rs147757734, rs531165422, rs530343378, rs782564763, rs1554798541, rs2491070389, rs1383503952, rs375260434 View all (9 more)	RCV004756409 RCV003936396 RCV003936415 RCV004756508 RCV003392787 RCV003410748 RCV003929224 RCV004756531 RCV003909108 RCV004756536 RCV004756539 RCV003896705 RCV003898938 RCV003892285 RCV003921785 RCV003904092 RCV003961524 RCV003959782 RCV003969553 RCV003967195 RCV003969090 RCV003972170 RCV003972922 RCV003916011
Hypotension	Benign	rs201441444	RCV000119258

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Autistic Disorder	Associate	34728519
Breast Neoplasms	Associate	40721470
Carcinogenesis	Associate	37588985
Colorectal Neoplasms	Associate	24146633
Food Addiction	Associate	34728519
Hirsutism	Associate	18252781
Hypospadias	Associate	24986825
Inflammation	Associate	8664346
Latent Infection	Associate	29197675
Lung Neoplasms	Associate	21544809
Nasopharyngeal Carcinoma	Associate	35953777
Neoplasms	Associate	25526449, 29629840
Pancreatic Neoplasms	Associate	37588985
Prostatic Neoplasms	Associate	23524847
Urinary Bladder Neoplasms	Associate	21323680

AKR1C4 (aldo-keto reductase family 1 member C4)