UniProt ID |
P42330
|
Protein name |
Aldo-keto reductase family 1 member C3 (EC 1.1.1.-) (EC 1.1.1.210) (EC 1.1.1.53) (EC 1.1.1.62) (17-beta-hydroxysteroid dehydrogenase type 5) (17-beta-HSD 5) (3-alpha-HSD type II, brain) (3-alpha-hydroxysteroid dehydrogenase type 2) (3-alpha-HSD type 2) (E |
Protein function |
Cytosolic aldo-keto reductase that catalyzes the NADH and NADPH-dependent reduction of ketosteroids to hydroxysteroids. Acts as a NAD(P)(H)-dependent 3-, 17- and 20-ketosteroid reductase on the steroid nucleus and side chain and regulates the me |
PDB |
1RY0
,
1RY8
,
1S1P
,
1S1R
,
1S2A
,
1S2C
,
1XF0
,
1ZQ5
,
2F38
,
2FGB
,
3R43
,
3R58
,
3R6I
,
3R7M
,
3R8G
,
3R8H
,
3R94
,
3UFY
,
3UG8
,
3UGR
,
3UWE
,
4DBS
,
4DBU
,
4DBW
,
4DZ5
,
4FA3
,
4FAL
,
4FAM
,
4H7C
,
4HMN
,
4WDT
,
4WDU
,
4WDW
,
4WDX
,
4WRH
,
4XVD
,
4XVE
,
4YVV
,
4YVX
,
4ZFC
,
5HNT
,
5HNU
,
6A7B
,
6F2U
,
6F78
,
6GXK
,
7C7F
,
7C7G
,
7C7H
,
7WQM
,
7WQR
|
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 many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. High expression in prostate and mammary gland. In the prostate, higher levels |
Sequence |
|
Sequence length |
323 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
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 View all (247 more) |
16338060 |
Gastric cancer |
Hereditary Diffuse Gastric Cancer |
rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802, rs28933369, rs121912469, rs80358011, rs397507262, rs80359439, rs397507333, rs80359543, rs80358831, rs80359596, rs80358920, rs80358972, rs80359659, rs397507404, rs397514661, rs80359516, rs200495564, rs80358419, rs80359274, rs80359283, rs80358427, rs80358428, rs80358435, rs81002805, rs397507660, rs397507663, rs80359391, rs80359443, rs81002797, rs80359466, rs397507752, rs80359484, rs80359603, rs397507954, rs80359058, rs80359071, rs397507981, rs80359121, rs80357086, rs80357064, rs397508936, rs80357695, rs80357661, rs397509035, rs80357544, rs80357577, rs80357881, rs80357296, rs80356923, rs80356866, rs80357504, rs80357390, rs80357239, rs80358099, rs397509284, rs80357258, rs199474738, rs199474747, rs587779204, rs63750439, rs267608076, rs587779246, rs63749999, rs267608078, rs63751327, rs267607719, rs267607734, rs63750706, rs63751711, rs587779047, rs587779075, rs267607949, rs63750633, rs63750803, rs63751618, rs267608154, rs200640585, rs80358018, rs80357857, rs80357882, rs180177103, rs587779815, rs587779865, rs587779872, rs587780059, rs121912666, rs587780088, rs587780104, rs200432447, rs180177100, rs587780226, rs587780784, rs587776416, rs587781276, rs587781629, rs587781694, rs587781727, rs587781730, rs587781807, rs587781894, rs587781948, rs121913344, rs587782292, rs587782350, rs587782558, rs587782719, rs587782885, rs587783057, rs730881833, rs730881411, rs730881336, rs139770721, rs730881869, rs730881633, rs730882007, rs786203115, rs765123255, rs1553333738, rs762083530, rs786202800, rs17174393, rs55996097, rs750621215, rs786203451, rs747604569, rs764389018, rs786204433, rs786204862, rs772821016, rs779582317, rs863225406, rs193922343, rs759965045, rs63749919, rs760228510, rs746481984, rs762307622, rs876659736, rs876660933, rs747727055, rs1450394308, rs876658348, rs876658431, rs876659326, rs876660444, rs730881369, rs878853865, rs753862052, rs587780024, rs138941496, rs886040739, rs886040744, rs886040347, rs878854957, rs886040123, rs398122662, rs886040942, rs1057517104, rs1057516320, rs1057516683, rs879254046, rs1057517253, rs587781927, rs985033810, rs1057519989, rs775464903, rs374230313, rs758304323, rs1060501599, rs758081262, rs1060500126, rs1060502734, rs587776408, rs1060501695, rs1114167816, rs1114167596, rs1114167667, rs1555460315, rs1135402788, rs1554086196, rs730881919, rs773356478, rs769237459, rs1553653158, rs587782087, rs1555107263, rs1555119940, rs1403784434, rs1342519012, rs751710099, rs1553616361, rs1553619721, rs1270783041, rs775036118, rs1555288557, rs1555460548, rs1555461154, rs1298667185, rs1553622218, rs63751101, rs1349928568, rs771936821, rs1021662947, rs1555921011, rs81002831, rs1555124506, rs1555574803, rs1060502716, rs1555605362, rs747057367, rs1565385010, rs1567554500, rs1567516230, rs1558644995, rs1555591308, rs778306619, rs1566231194, rs1603328466, rs1570406302, rs1586108714, rs768362387, rs1597713777, rs1060502926, rs1597867185, rs1591517571, rs1591663236, rs1593903006, rs1555284779, rs1597096243, rs45459799, rs1597360340, rs587781905, rs864622481, rs1601753141, rs1966858562, rs1966967065, rs1967016153, rs1967113484, rs2080473458, rs1591387978, rs1224428422, rs1597747184, rs2082309297, rs2051929740, rs147542208 View all (244 more) |
19424620 |
Obesity |
Obesity |
rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829 View all (27 more) |
20882379 |
Ovarian cancer |
Epithelial ovarian cancer |
rs34424986, rs137853060, rs28934575, rs79658334, rs121913021, rs62625308, rs80356898, rs80357579, rs41293497, rs80356904, rs80357471, rs80357522, rs80357234, rs80357912, rs80357828, rs80357208, rs55770810, rs80358165, rs80358010, rs587780226, rs536907995, rs139414606, rs371638537, rs574552037, rs730881647, rs747993448, rs786202125, rs786202962, rs121913321, rs189261858, rs869320800, rs753023295, rs779466229, rs752411477, rs80357438, rs191486604, rs760874290, rs752780954, rs760782298, rs1555591361, rs1555578360, rs1555588460, rs1555587401, rs747427602, rs112675807, rs80357393 View all (31 more) |
31469419 |
Prostate cancer |
Malignant neoplasm of prostate |
rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 |
17507624, 18306354 |
Pseudohermaphroditism |
Pseudohermaphroditism |
rs119481075, rs119481076, rs119481077, rs201115371, rs144809928, rs750481017, rs372027264, rs773720185, rs1554694264, rs1554694678, rs747724352, rs767765046, rs149607031, rs1554705693 |
25304492 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Ambiguous genitalia |
Ambiguous Genitalia |
|
25304492 |
ClinVar |
Endometriosis |
Endometriosis |
|
25446850, 21232532 |
ClinVar |
Glioblastoma |
Glioblastoma |
CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587 |
|
GWAS, CBGDA |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Adenocarcinoma |
Associate
|
21134280, 22670171, 24228104, 33371142 |
Adenocarcinoma of Lung |
Associate
|
24228104 |
Adrenal Gland Neoplasms |
Associate
|
19026713 |
Adrenal Insufficiency |
Associate
|
33444228 |
Adrenocortical Adenoma |
Inhibit
|
19026713 |
Adrenocortical Carcinoma |
Associate
|
19026713 |
Alcoholism |
Associate
|
21323680 |
Anemia |
Associate
|
39596349 |
Arthropathy progressive pseudorheumatoid of childhood |
Associate
|
31213128 |
Asthma |
Associate
|
10622721 |
Asthma |
Stimulate
|
36996663 |
Atrophy |
Associate
|
34784541 |
Blood Platelet Disorders |
Associate
|
23116553 |
Breast Neoplasms |
Associate
|
15212687, 19010312, 19846565, 20036328, 21151387, 23116553, 34886806, 35739271, 39596349, 40489436 |
Calcinosis Cutis |
Stimulate
|
22971343 |
Carcinogenesis |
Associate
|
18339682, 36518267 |
Carcinogenesis |
Inhibit
|
33493134 |
Carcinoma Basal Cell |
Associate
|
21151387 |
Carcinoma Ductal Breast |
Stimulate
|
19010312 |
Carcinoma Hepatocellular |
Associate
|
14672942, 36451864, 38188684, 38287800 |
Carcinoma Hepatocellular |
Stimulate
|
33493134 |
Carcinoma Non Small Cell Lung |
Associate
|
22670171, 27385003, 28704416, 34268939 |
Carcinoma Ovarian Epithelial |
Associate
|
31469419 |
Carcinoma Papillary |
Associate
|
20126582 |
Carcinoma Renal Cell |
Associate
|
20126582 |
Carcinoma Signet Ring Cell |
Associate
|
34830394 |
Carcinoma Squamous Cell |
Associate
|
22670171, 24228104, 24917395 |
Carcinoma Transitional Cell |
Associate
|
34784541 |
Central Nervous System Neoplasms |
Associate
|
21151387 |
Choriocarcinoma |
Associate
|
25170291 |
Colorectal Neoplasms |
Associate
|
24934327, 38287800 |
Crohn Disease |
Associate
|
27140063 |
Death |
Associate
|
19602686 |
Depressive Disorder |
Associate
|
18552976 |
Dermatitis Atopic |
Stimulate
|
22170488 |
Drug Hypersensitivity |
Associate
|
10622721 |
Drug Related Side Effects and Adverse Reactions |
Associate
|
26950072 |
Ehlers Danlos syndrome type 3 |
Associate
|
27518164 |
Endocrine System Diseases |
Associate
|
36952646 |
Endometrial Hyperplasia |
Inhibit
|
20661409 |
Endometrial Hyperplasia |
Associate
|
21151387 |
Endometrial Neoplasms |
Associate
|
21151387 |
Endometriosis |
Associate
|
24035605 |
Esophageal Neoplasms |
Associate
|
27385003, 39375680 |
Glioblastoma |
Associate
|
19602686, 21649900 |
Glioma |
Associate
|
18492260 |
Hematologic Diseases |
Associate
|
23116553 |
Hereditary Angioedema Type III |
Associate
|
19026713 |
Hereditary Angioedema Type III |
Stimulate
|
20036328 |
Hyperaldosteronism |
Associate
|
19026713, 21248073 |
Hyperandrogenism |
Associate
|
16263811, 30975191, 36799021 |
Hypospadias |
Associate
|
24986825 |
Inflammation |
Associate
|
19010312, 22170488 |
Intervertebral Disc Degeneration |
Associate
|
38007425 |
Kidney Neoplasms |
Associate
|
20126582 |
Leukemia |
Associate
|
18339682 |
Leukemia Myeloid Acute |
Associate
|
26429394 |
Leukopenia |
Associate
|
39596349 |
Lymphatic Metastasis |
Associate
|
24934327 |
Lymphoma Non Hodgkin |
Associate
|
18632753 |
Medulloblastoma |
Associate
|
21151387 |
Meningioma |
Associate
|
21151387 |
Metabolic Syndrome |
Inhibit
|
18641923 |
Mitochondrial Diseases |
Associate
|
36451864 |
Multiple Myeloma |
Associate
|
40156642 |
Myocardial Infarction |
Associate
|
33354250 |
Neoplasm Metastasis |
Associate
|
24244276 |
Neoplasm Residual |
Associate
|
33755225 |
Neoplasms |
Associate
|
16838325, 19026713, 20661409, 21134280, 25526449, 26950072, 27385003, 27485119, 31376206, 31469419, 33493134, 39375680 |
Neoplasms |
Inhibit
|
21151387 |
Neoplasms |
Stimulate
|
24917395, 38188684 |
Neoplasms Adipose Tissue |
Associate
|
18641923 |
Neuroendocrine Tumors |
Associate
|
24228104 |
Obesity |
Associate
|
18641923 |
Ovarian Diseases |
Associate
|
30975191 |
Ovarian Neoplasms |
Associate
|
31469419, 32590918 |
Personality Disorders |
Associate
|
21134280 |
Polycystic Ovary Syndrome |
Associate
|
16263811, 17940109, 18692800, 22329763, 28645211, 30975191, 36799021 |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
36952646 |
Prostatic Neoplasms |
Associate
|
18632753, 21134280, 23196782, 23258647, 23359804, 25754347, 26429394, 27385003, 29920533, 31125365, 32125151, 32430485, 36067250, 36596844, 36901944, 37772993 View all (1 more) |
Prostatic Neoplasms |
Stimulate
|
31980029 |
Prostatic Neoplasms Castration Resistant |
Stimulate
|
21365123, 22507964, 23196782, 29936123, 32125151 |
Prostatic Neoplasms Castration Resistant |
Associate
|
24244276, 28771887, 31376206, 36067250, 36596844, 36901944 |
Prostatitis |
Associate
|
21151387, 26429394 |
Psychological Distress |
Associate
|
35916411 |
Pulmonary Disease Chronic Obstructive |
Associate
|
36475041 |
Pyruvate Carboxylase Deficiency Disease |
Associate
|
31213128 |
Radiation Injuries |
Associate
|
34268939 |
Simpson Golabi Behmel syndrome |
Associate
|
36799021 |
Skin Neoplasms |
Associate
|
24917395 |
Squamous Cell Carcinoma of Head and Neck |
Associate
|
14997212 |
Stomach Neoplasms |
Associate
|
35974335 |
Teratoma |
Associate
|
28190856 |
Teratoma Ovarian |
Associate
|
28190856 |
Thyroid Neoplasms |
Associate
|
35741758 |
Urea Cycle Disorders Inborn |
Associate
|
25522430 |
Urinary Bladder Neoplasms |
Associate
|
18632753, 21323680, 27085562 |
Uterine Diseases |
Inhibit
|
20661409 |
Uterine Diseases |
Associate
|
24035605 |
Virilism |
Associate
|
32590918 |
Weight Loss |
Inhibit
|
18641923 |
Wilms Tumor |
Associate
|
20126582, 21151387 |
|