AKR1C1 (aldo-keto reductase family 1 member C1)

Gene

• Entrez ID: 1645
• Gene name: Aldo-keto reductase family 1 member C1
• Gene symbol: AKR1C1
• Synonyms: 2-ALPHA-HSD, 20-ALPHA-HSD, C9, DD1, DD1/DD2, DDH, DDH1, H-37, HAKRC, HBAB, MBAB
• 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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 600449
• HGNC: 384
• e!Ensembl: 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

• Sequence:

  MDSKYQCVKLNDGHFMPVLGFGTYAPAEVPKSKALEATKLAIEAGFRHIDSAHLYNNEEQ
  VGLAIRSKIADGSVKREDIFYTSKLWCNSHRPELVRPALERSLKNLQLDYVDLYLIHFPV
  SVKPGEEVIPKDENGKILFDTVDLCATWEAVEKCKDAGLAKSIGVSNFNRRQLEMILNKP
  GLKYKPVCNQVECHPYFNQRKLLDFCKSKDIVLVAYSALGSHREEPWVDPNSPVLLEDPV
  LCALAKKHKRTPALIALRYQLQRGVVVLAKSYNEQRIRQNVQVFEFQLTSEEMKAIDGLN
  RNVRYLTLDIFAGPPNYPFSDEY

• Sequence length: 323

Pathways

KEGG:

Steroid hormone biosynthesis
Metabolism of xenobiotics by cytochrome P450
Metabolic pathways
Chemical carcinogenesis - reactive oxygen species

Reactome:

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

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
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, rs587779206, rs63750439, rs63751405, rs63750741, rs63750854, rs63750909, rs587779212, rs63749874, rs267608076, rs587779220, rs63750735, rs267608082, rs587779227, rs267608068, rs63750075, rs587779232, rs267608058, rs63751127, rs63750138, rs267608065, rs63751017, rs587779246, rs63750111, rs63750563, rs267608073, rs63751407, rs63749999, rs267608042, rs63750833, rs587779255, rs587779256, rs267608078, rs267608092, rs587779263, rs267608098, rs587779267, rs63750194, rs63751327, rs63751328, rs587779284, rs63749942, rs63751058, rs267608114, rs267608118, rs63751319, rs267608128, rs1553333594, rs267608126, rs63750767, rs267608120, rs267608121, rs267608122, rs63750342, rs63749873, rs587779318, rs63750019, rs63749980, rs267608048, rs1553412283, rs146816935, rs63750855, rs63751711, rs267607789, rs587779094, rs63750224, rs267607972, rs63750084, rs587779185, rs587778617, rs398123231, rs398123232, rs398123318, rs587780021, rs63750119, rs267608064, rs587781490, rs587781558, rs587781691, rs63749821, rs587782111, rs587782326, rs587782704, rs587779264, rs587779333, rs587782712, rs587783056, rs730881825, rs730881827, rs730881829, rs730881830, rs786202193, rs587782281, rs786202848, rs786201049, rs750528093, rs786202108, rs267608083, rs786201050, rs786203924, rs587781544, rs786201084, rs1553333738, rs863224829, rs863225398, rs863225409, rs863225412, rs864622041, rs869312769, rs869312770, rs63751077, rs876661205, rs876661025, rs63749919, rs876661073, rs876661222, rs267608041, rs878853702, rs751326348, rs866260675, rs886039666, rs886044911, rs1057517552, rs1057517764, rs1057517763, rs121909224, rs1057520605, rs1060502885, rs1060502918, rs1060502932, rs587779215, rs1060502937, rs1060502886, rs1060502875, rs1060502881, rs267607939, rs1023534466, rs1064793600, rs1064795256, rs1064795591, rs1064794055, rs1064794164, rs1553414010, rs1064793671, rs1064794302, rs1064793489, rs1064794384, rs1064793781, rs1553333500, rs760190301, rs1114167719, rs1114167776, rs1114167704, rs1114167748, rs1114167731, rs753796271, rs267608055, rs1114167746, rs1114167715, rs587782706, rs1114167750, rs1114167765, rs1114167747, rs786204048, rs1114167707, rs1114167767, rs1114167717, rs1114167783, rs1553412966, rs1553333598, rs587779297, rs1554294505, rs988423880, rs1554306353, rs1553408136, rs1553333321, rs1553408388, rs63749973, rs1553412064, rs1553412120, rs1553826166, rs1553413784, rs1553331242, rs1553414519, rs1564568660, rs1558392033, rs878853704, rs765763906, rs1558663559, rs1572720704, rs63750985, rs1572727440, rs587779253, rs1580538168, rs149350323, rs374133543, rs771721952, rs201033017, rs763478027, rs1475633334, rs1580553624, rs1580553669, rs578113271, rs757194485, rs539295465, rs778610412, rs758191157, rs1580597397, rs1580033751, rs751236312, rs376667075, rs1561486630, rs1561486632, rs777054839, rs1204002507, rs766672143, rs1580091499, rs1386063673, rs1450314617, rs1580027713, rs367544716, rs1488467945, rs1580053768, rs1580553607, rs1572720794, rs1572722039, rs1572723786, rs1572725235, rs1572728112, rs1175196087, rs1572741984, rs1580540688, rs1259647122, rs1580546793, rs1234762807, rs1580556516, rs1669245178, rs1669365820, rs756190979, rs371356175, rs766997264, rs1743353294, rs1379605717, rs770330684, rs1462955256, rs1744356274, rs1480047980, rs1744149615	16338060
Lung carcinoma	Non-Small Cell Lung Carcinoma	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193	17094902
Pseudohermaphroditism	Pseudohermaphroditism	rs119481075, rs119481076, rs119481077, rs201115371, rs144809928, rs750481017, rs372027264, rs773720185, rs1554694264, rs1554694678, rs747724352, rs767765046, rs149607031, rs1554705693	25304492

Unknown
Disease name	Disease term	dbSNP ID	References
Ambiguous genitalia	Ambiguous Genitalia	rs782562963	25304492
Endometrial neoplasms	Endometrial Neoplasms		16338060
Endometrioma	Endometrioma		21232532
Endometriosis	Endometriosis	rs1800629, rs1143634	21232532
Hermaphroditism	Hermaphroditism		25304492
Disorder of sex development	Intersex Conditions		25304492
Osteoarthrosis deformans	Osteoarthrosis Deformans		18784066
Sclerocystic ovaries	Sclerocystic Ovaries		22381227
Polycystic ovary syndrome	Polycystic Ovary Syndrome		22381227
Sex differentiation disorders	Sex Differentiation Disorders		25304492