UniProt ID |
P15121
|
Protein name |
Aldo-keto reductase family 1 member B1 (EC 1.1.1.21) (EC 1.1.1.300) (EC 1.1.1.372) (EC 1.1.1.54) (Aldehyde reductase) (Aldose reductase) (AR) |
Protein function |
Catalyzes the NADPH-dependent reduction of a wide variety of carbonyl-containing compounds to their corresponding alcohols. Displays enzymatic activity towards endogenous metabolites such as aromatic and aliphatic aldehydes, ketones, monosachari |
PDB |
1ABN
,
1ADS
,
1AZ1
,
1AZ2
,
1EF3
,
1EL3
,
1IEI
,
1MAR
,
1PWL
,
1PWM
,
1T40
,
1T41
,
1US0
,
1X96
,
1X97
,
1X98
,
1XGD
,
1Z3N
,
1Z89
,
1Z8A
,
2ACQ
,
2ACR
,
2ACS
,
2ACU
,
2AGT
,
2DUX
,
2DUZ
,
2DV0
,
2F2K
,
2FZ8
,
2FZ9
,
2FZB
,
2FZD
,
2HV5
,
2HVN
,
2HVO
,
2I16
,
2I17
,
2IKG
,
2IKH
,
2IKI
,
2IKJ
,
2INE
,
2INZ
,
2IPW
,
2IQ0
,
2IQD
,
2IS7
,
2ISF
,
2J8T
,
2NVC
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00248
|
Aldo_ket_red |
15 → 294 |
Aldo/keto reductase family |
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: Highly expressed in embryonic epithelial cells (EUE) in response to osmotic stress. {ECO:0000269|PubMed:8435445}. |
Sequence |
|
Sequence length |
316 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Cataract |
Cataract, Pseudoaphakia |
rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692 View all (150 more) |
21329682, 25541468, 21376710, 28137510 |
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) |
23146748 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Endometriosis |
Endometriosis |
|
25446850 |
ClinVar |
Hypertension |
Hypertension |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Albuminuria |
Associate
|
28805547 |
Asthma |
Associate
|
29726087 |
Atherosclerosis |
Associate
|
18451330, 26873505 |
Breast Neoplasms |
Associate
|
35807227, 36454866 |
Carcinogenesis |
Associate
|
35962452 |
Carcinoma Hepatocellular |
Associate
|
18325492, 24607627, 9565553 |
Carcinoma Non Small Cell Lung |
Associate
|
35962452 |
Cardio Renal Syndrome |
Associate
|
18716049 |
Chronic Disease |
Associate
|
16356117 |
Colorectal Neoplasms |
Associate
|
17300864, 21576240, 23732517, 24393480, 27493446, 35807227, 36301939 |
Cystinosis |
Associate
|
18325349 |
Diabetes Complications |
Associate
|
14515207, 16356117, 2498333 |
Diabetes Mellitus |
Associate
|
12943962, 14515207, 16356117, 16911628, 18451330, 21084309, 26873505, 35029856, 9760169 |
Diabetes Mellitus Type 1 |
Associate
|
11231353, 17563730, 9489533 |
Diabetes Mellitus Type 2 |
Associate
|
14515207, 16911628, 18716049, 20353610, 35029856, 37218221 |
Diabetic Angiopathies |
Associate
|
16911628 |
Diabetic Foot |
Associate
|
26579581, 29115286 |
Diabetic Nephropathies |
Associate
|
11231353, 11422753, 18325349, 35029856 |
Diabetic Neuropathies |
Associate
|
33820886, 9489533 |
Diabetic Retinopathy |
Associate
|
17563730, 20424224, 21067572, 29115286, 31539366, 37218221 |
DNA Virus Infections |
Associate
|
18096195 |
Drug Related Side Effects and Adverse Reactions |
Associate
|
23732517, 23770200, 37336288 |
general anxiety disorder |
Associate
|
28198454 |
Glioblastoma |
Associate
|
37336288 |
Glioma |
Associate
|
32778640, 35341178 |
Glomerulonephritis Membranous |
Associate
|
20150532 |
Glycosuria Renal |
Associate
|
18716049 |
Hyperglycemia |
Stimulate
|
11422753 |
Hyperglycemia |
Associate
|
19383984, 25283348, 26873505, 35029856, 40724989 |
Hyperglycemic Hyperosmolar Nonketotic Coma |
Associate
|
19383984, 40724989 |
Hyperlipidemias |
Associate
|
18451330 |
Hypertensive Retinopathy |
Associate
|
37218221 |
Hyperuricemia |
Associate
|
24556878 |
Hypoxia |
Associate
|
21576240 |
Inflammation |
Associate
|
21576240, 24663124, 27322952, 40724989 |
Kidney Diseases |
Associate
|
11231353, 11422753 |
Kidney Failure Chronic |
Associate
|
18716049 |
Leiomyoma |
Associate
|
21496801, 30567472 |
Multiple Sclerosis |
Associate
|
36680379 |
Muscular Dystrophy Duchenne |
Stimulate
|
27322952 |
Myotonic Dystrophy |
Associate
|
17563730 |
Neoplasms |
Associate
|
15928807, 18325492, 19028477, 19407367, 20460771, 27028854, 34039789, 35341178, 35807227, 35962452, 36221394, 36301939 |
Neoplasms |
Stimulate
|
39375438 |
Nervous System Diseases |
Associate
|
9489533 |
Neurodegenerative Diseases |
Associate
|
25451566 |
Parkinson Disease |
Inhibit
|
17270157 |
Pheochromocytoma |
Associate
|
34039789 |
Plaque Atherosclerotic |
Associate
|
18451330 |
Pulmonary Disease Chronic Obstructive |
Associate
|
36475041 |
Rhinitis |
Associate
|
29726087 |
Rhinitis Allergic |
Associate
|
29726087 |
Stomach Neoplasms |
Associate
|
36221394, 36397644, 39375438 |
Stroke |
Associate
|
16911628 |
Tongue Neoplasms |
Associate
|
19407367 |
Vascular System Injuries |
Associate
|
24556878 |
|