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

Gene Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1109
Gene name Gene Name - the full gene name approved by the HGNC.	Aldo-keto reductase family 1 member C4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	AKR1C4
Synonyms (NCBI Gene) Gene synonyms aliases	3-alpha-HSD, C11, CDR, CHDR, DD-4, DD4, HAKRA
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10p15.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

Transcription factors

Show/Hide all(3)

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

Show/Hide all(34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001523	Process	Retinoid metabolic process	TAS
GO:0001758	Function	Retinal dehydrogenase activity	IDA	21851338
GO:0004032	Function	Alditol:NADP+ 1-oxidoreductase activity	IBA	21873635
GO:0004033	Function	Aldo-keto reductase (NADP) activity	TAS	7650035
GO:0004303	Function	Estradiol 17-beta-dehydrogenase activity	IEA
GO:0005737	Component	Cytoplasm	TAS	2187532
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0006693	Process	Prostaglandin metabolic process	IBA	21873635
GO:0006699	Process	Bile acid biosynthetic process	TAS
GO:0008202	Process	Steroid metabolic process	IBA	21873635
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:0016229	Function	Steroid dehydrogenase activity	IBA	21873635
GO:0016655	Function	Oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor	IDA	20837989
GO:0022900	Process	Electron transport chain	IEA
GO:0030283	Function	Testosterone dehydrogenase [NAD(P)] activity	IEA
GO:0032052	Function	Bile acid binding	IBA	21873635
GO:0035410	Function	Dihydrotestosterone 17-beta-dehydrogenase activity	IEA
GO:0042448	Process	Progesterone metabolic process	IBA	21873635
GO:0044597	Process	Daunorubicin metabolic process	IBA	21873635
GO:0044597	Process	Daunorubicin metabolic process	IMP	20837989
GO:0044598	Process	Doxorubicin metabolic process	IBA	21873635
GO:0044598	Process	Doxorubicin metabolic process	IMP	20837989
GO:0047023	Function	Androsterone dehydrogenase activity	IBA	21873635
GO:0047023	Function	Androsterone dehydrogenase activity	IDA	21851338
GO:0047024	Function	5alpha-androstane-3beta,17beta-diol dehydrogenase activity	IEA
GO:0047044	Function	Androstan-3-alpha,17-beta-diol dehydrogenase activity	IEA
GO:0047086	Function	Ketosteroid monooxygenase activity	IBA	21873635
GO:0047743	Function	Chlordecone reductase activity	IDA	2427522
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

Protein

UniProt ID

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 Causal Diseases (3)

Disease term	Disease name	dbSNP ID	References
Causal
46, xy disorder of sex development	46,XY disorder of sex development due to testicular 17,20-desmolase deficiency	rs387906750, rs797044460, rs387906751, rs13222
46, xy sex reversal	MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE	rs111033589, rs1592184934, rs121908255, rs121908256, rs606231178, rs104894956, rs104894957, rs104894958, rs104894959, rs104894964, rs606231179, rs104894966, rs104894967, rs104894968, rs104894969 View all (54 more)	21802064
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Ambiguous genitalia	Ambiguous Genitalia	ClinVar
Hypogonadism	Hypogonadism	GWAS

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text Mining
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)