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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1645
Gene name Gene Name - the full gene name approved by the HGNC.	Aldo-keto reductase family 1 member C1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	AKR1C1
Synonyms (NCBI Gene) Gene synonyms aliases	2-ALPHA-HSD, 20-ALPHA-HSD, C9, DD1, DD1/DD2, DDH, DDH1, H-37, HAKRC, HBAB, MBAB
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)

miRTarBase ID	miRNA	Experiments	Reference
MIRT756094	hsa-miR-338-3p	Luciferase reporter assay, Western blotting, qRT-PCR, Immunoprecipitaion (IP), Immunofluorescence	38472205

Show/Hide all(45)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001523	Process	Retinoid metabolic process	TAS
GO:0004032	Function	Alditol:NADP+ 1-oxidoreductase activity	IBA	21873635
GO:0004032	Function	Alditol:NADP+ 1-oxidoreductase activity	IDA	21232532
GO:0004033	Function	Aldo-keto reductase (NADP) activity	TAS	7789999
GO:0004303	Function	Estradiol 17-beta-dehydrogenase activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 32814053
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	IDA	8486699
GO:0005829	Component	Cytosol	TAS
GO:0006693	Process	Prostaglandin metabolic process	IBA	21873635
GO:0006805	Process	Xenobiotic metabolic process	NAS	8486699
GO:0007586	Process	Digestion	IDA	8486699
GO:0008202	Process	Steroid metabolic process	IBA	21873635
GO:0008206	Process	Bile acid metabolic process	IDA	8486699
GO:0015721	Process	Bile acid and bile salt transport	TAS	8486699
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	19442656, 20837989
GO:0018636	Function	Phenanthrene 9,10-monooxygenase activity	IDA	21851338
GO:0030283	Function	Testosterone dehydrogenase [NAD(P)] activity	IEA
GO:0030299	Process	Intestinal cholesterol absorption	TAS	8486699
GO:0030855	Process	Epithelial cell differentiation	IDA	21492153
GO:0031406	Function	Carboxylic acid binding	IDA	8486699
GO:0032052	Function	Bile acid binding	IBA	21873635
GO:0032052	Function	Bile acid binding	IDA	8486699
GO:0035410	Function	Dihydrotestosterone 17-beta-dehydrogenase activity	IEA
GO:0042448	Process	Progesterone metabolic process	IBA	21873635
GO:0042448	Process	Progesterone metabolic process	IDA	21232532
GO:0042574	Process	Retinal metabolic process	IDA	21851338
GO:0042632	Process	Cholesterol homeostasis	TAS	8486699
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:0046683	Process	Response to organophosphorus	IEP	16079077
GO:0047006	Function	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity	IEA
GO:0047023	Function	Androsterone dehydrogenase activity	IBA	21873635
GO:0047024	Function	5alpha-androstane-3beta,17beta-diol dehydrogenase activity	IEA
GO:0047042	Function	Androsterone dehydrogenase (B-specific) activity	IDA	8486699
GO:0047044	Function	Androstan-3-alpha,17-beta-diol dehydrogenase activity	IEA
GO:0047086	Function	Ketosteroid monooxygenase activity	IBA	21873635
GO:0047086	Function	Ketosteroid monooxygenase activity	IDA	21232532
GO:0047115	Function	Trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	IDA	8486699
GO:0047718	Function	Indanol dehydrogenase activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0071395	Process	Cellular response to jasmonic acid stimulus	IDA	19487289

MIM	HGNC	e!Ensembl
600449	384	ENSG00000187134

Protein

UniProt ID

Q04828

Protein name

Aldo-keto reductase family 1 member C1 (EC 1.1.1.-) (EC 1.1.1.112) (EC 1.1.1.209) (EC 1.1.1.210) (EC 1.1.1.357) (EC 1.1.1.51) (EC 1.1.1.53) (EC 1.1.1.62) (EC 1.3.1.20) (20-alpha-hydroxysteroid dehydrogenase) (20-alpha-HSD) (EC 1.1.1.149) (Chlordecone redu

Protein function

Cytosolic aldo-keto reductase that catalyzes the NADH and NADPH-dependent reduction of ketosteroids to hydroxysteroids (PubMed:19218247). Most probably acts as a reductase in vivo since the oxidase activity measured in vitro is inhibited by phys

PDB

1MRQ , 3C3U , 3GUG , 3NTY , 4YVP , 6A7A , 6IJX , 8JP2

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: 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:0000269|PubMed:10998348, ECO:0000269|PubMed:

Sequence

MDSKYQCVKLNDGHFMPVLGFGTYAPAEVPKSKALEATKLAIEAGFRHIDSAHLYNNEEQ
VGLAIRSKIADGSVKREDIFYTSKLWCNSHRPELVRPALERSLKNLQLDYVDLYLIHFPV
SVKPGEEVIPKDENGKILFDTVDLCATWEAVEKCKDAGLAKSIGVSNFNRRQLEMILNKP
GLKYKPVCNQVECHPYFNQRKLLDFCKSKDIVLVAYSALGSHREEPWVDPNSPVLLEDPV
LCALAKKHKRTPALIALRYQLQRGVVVLAKSYNEQRIRQNVQVFEFQLTSEEMKAIDGLN
RNVRYLTLDIFAGPPNYPFSDEY

Sequence length

323

Interactions

View interactions

	KEGG		Reactome
	Steroid hormone biosynthesis Metabolism of xenobiotics by cytochrome P450 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 (4)

Disease term	Disease name	dbSNP ID	References
Causal
Arthritis	Degenerative polyarthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	18784066
Endometrial carcinoma	Endometrial Carcinoma	rs34612342, rs587776667, rs587776701, rs63750955, rs587776706, rs121434629, rs80359605, rs121913530, rs104894365, rs79184941, rs121913478, rs63750781, rs193922343, rs267608094, rs267608077 View all (247 more)	16338060
Lung carcinoma	Non-Small Cell Lung Carcinoma	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355 View all (44 more)	17094902
Pseudohermaphroditism	Pseudohermaphroditism	rs119481075, rs119481076, rs119481077, rs201115371, rs144809928, rs750481017, rs372027264, rs773720185, rs1554694264, rs1554694678, rs747724352, rs767765046, rs149607031, rs1554705693	25304492

Show/Hide Unknown Diseases (2)

Disease term	Disease name	References	Source
Unknown
Ambiguous genitalia	Ambiguous Genitalia	25304492	ClinVar
Endometriosis	Endometriosis	21232532	ClinVar

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenocarcinoma	Associate	18034892
Breast Neoplasms	Associate	15212687, 19190336, 25526449, 26458823, 34886806, 35617355
Bronchopulmonary Dysplasia	Associate	37478211
Carcinoma Hepatocellular	Associate	20338228
Carcinoma Signet Ring Cell	Associate	34830394
Chorioamnionitis	Stimulate	36765000
Diabetes Mellitus Type 2	Associate	34134627
Disease Resistance	Associate	16886619
Endometrial Neoplasms	Associate	26824415, 36550099
Esophageal Neoplasms	Associate	26934124
Esophageal Squamous Cell Carcinoma	Associate	26934124
Fatigue Syndrome Chronic	Associate	37978513
Heart Failure	Associate	25725476
Hypoxia	Associate	36316355
Inflammation	Associate	34134627
Labor Pain	Stimulate	36765000
Lipedema	Associate	32872468, 38112954
Lung Diseases	Associate	20338228
Lymphatic Diseases	Associate	32307891
Nasopharyngeal Carcinoma	Associate	32307891
Neoplasm Metastasis	Associate	32307891
Neoplasms	Associate	18034892, 20338228, 25526449, 32307891
Obstetric Labor Premature	Stimulate	36765000
Ovarian Neoplasms	Associate	17661040, 20338228, 28793334
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	31943135
Prostatic Neoplasms	Associate	17878531, 25816367
Prostatitis	Associate	21900597, 25816367
Pulmonary Disease Chronic Obstructive	Associate	36475041
Sexual Dysfunction Physiological	Associate	32872468
Spheroid body myopathy	Associate	28793334

AKR1C1 (aldo-keto reductase family 1 member C1)