Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

21 structures for O60218

Entry ID Method Resolution Chain Position Source
1ZUA X-ray 125 A X 1-316 PDB
4GA8 X-ray 194 A A 1-316 PDB
4GAB X-ray 160 A A 1-316 PDB
4GQ0 X-ray 210 A A 1-316 PDB
4GQG X-ray 192 A A 1-316 PDB
4I5X X-ray 210 A A 1-316 PDB
4ICC X-ray 175 A X 1-316 PDB
4JIH X-ray 230 A A 1-316 PDB
4JII X-ray 220 A X 1-316 PDB
4WEV X-ray 145 A X 1-316 PDB
4XZL X-ray 170 A X 1-316 PDB
4XZM X-ray 175 A X 1-316 PDB
4XZN X-ray 170 A X 1-316 PDB
5LIK X-ray 205 A X 1-316 PDB
5LIU X-ray 175 A X 1-316 PDB
5LIW X-ray 175 A X 1-316 PDB
5LIX X-ray 195 A X 1-316 PDB
5LIY X-ray 205 A X 1-316 PDB
5M2F X-ray 150 A X 1-316 PDB
5Y7N X-ray 250 A A 1-316 PDB
AF-O60218-F1 Predicted AlphaFoldDB

298 variants for O60218

Variant ID(s) Position Change Description Diseaes Association Provenance
rs774817445
CA4493655
2 A>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 2 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA369322002
rs1562928667
COSM3411601
3 T>M Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA4493657
rs772692413
4 F>S No ClinGen
ExAC
gnomAD
rs773276163
CA4493658
6 E>Q No ClinGen
ExAC
gnomAD
CA369322024
rs572830188
7 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs572830188
CA4493660
7 L>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4493661
rs754091937
9 T>I No ClinGen
ExAC
gnomAD
rs149691678
CA4493664
CA4493665
13 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA369322079
rs1330607273
15 I>T No ClinGen
gnomAD
CA4493667
rs781283353
15 I>V No ClinGen
ExAC
gnomAD
rs1280067316
CA369322115
21 W>S No ClinGen
TOPMed
gnomAD
rs749890611 22 K>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA369322127
rs749890611
22 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs1230908738
CA369322124
22 K>R No ClinGen
gnomAD
CA369322144
rs138887023
23 S>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs138887023
CA4493698
23 S>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs776573145
CA4493700
24 P>L No ClinGen
ExAC
gnomAD
CA4493699
rs771488063
24 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA4493702
rs769854371
26 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA369322170
rs1297931009
28 V>L No ClinGen
TOPMed
rs1297931009
CA369322168
28 V>M No ClinGen
TOPMed
CA4493704
rs761472134
31 A>V No ClinGen
ExAC
gnomAD
rs767386642
CA4493705
33 K>R No ClinGen
ExAC
gnomAD
CA369322224
rs1562929517
36 I>T No ClinGen
Ensembl
rs892344383
CA369322233
37 D>E No ClinGen
TOPMed
gnomAD
CA4493707
rs760675156
37 D>N No ClinGen
ExAC
gnomAD
rs1198519963
CA369322250
40 Y>C No ClinGen
gnomAD
rs144002917
CA4493712
41 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144002917
CA4493711
41 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs370452533
CA4493710
41 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs996921542
CA167011873
42 H>Y No ClinGen
TOPMed
CA369322264
rs1255915499
43 I>V No ClinGen
gnomAD
CA4493714
rs778100620
45 C>R No ClinGen
ExAC
gnomAD
CA369322285
rs1202552408
46 A>T No ClinGen
gnomAD
rs1477523518
CA369322295
47 Y>C No ClinGen
gnomAD
CA369322301
rs1168673332
48 V>D No ClinGen
gnomAD
rs1028307209
CA167011884
48 V>I No ClinGen
TOPMed
rs757698460
CA4493716
49 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs1458770243
CA369322319
51 N>Y No ClinGen
TOPMed
gnomAD
rs955364465
CA167011890
53 H>R No ClinGen
TOPMed
rs1301987117
CA369322343
54 E>Q No ClinGen
gnomAD
CA369322354
rs1198656153
55 V>A No ClinGen
TOPMed
CA369322382
rs749496966
59 I>M No ClinGen
ExAC
gnomAD
CA4493722
rs769056338
60 Q>E No ClinGen
ExAC
gnomAD
CA4493723
rs773135869
60 Q>P No ClinGen
ExAC
gnomAD
rs1211443532
CA369322390
61 E>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA4493724
rs760550433
63 I>N No ClinGen
ExAC
TOPMed
gnomAD
CA369322426
rs1482492767
65 E>D No ClinGen
gnomAD
CA369322428
rs1219310730
66 K>E No ClinGen
gnomAD
rs770935295
CA4493725
67 A>S No ClinGen
ExAC
gnomAD
rs1488126019
CA369322440
68 V>M No ClinGen
TOPMed
gnomAD
CA369322451
rs1427373734
69 K>M No ClinGen
gnomAD
CA4493730
rs752209303
70 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA4493729
rs752209303
70 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs541818131
CA4493728
70 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA167011974
rs908761663
71 E>K No ClinGen
TOPMed
rs763744205
CA4493731
73 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1332658900
CA369322475
74 F>L No ClinGen
TOPMed
rs1414376779
CA369322479
74 F>S No ClinGen
TOPMed
rs1414376779
CA369322478
74 F>Y No ClinGen
TOPMed
rs141386431
CA4493734
76 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA369322498
rs1397759211
77 S>N No ClinGen
gnomAD
CA4493761
rs758605056
79 L>S No ClinGen
ExAC
gnomAD
rs143396171
CA4493759
79 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs953989764
CA167012683
80 W>* No ClinGen
TOPMed
gnomAD
CA4493762
rs781034480
80 W>R No ClinGen
ExAC
TOPMed
gnomAD
rs769711685
CA4493764
81 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA4493763
rs745653060
81 P>T No ClinGen
ExAC
gnomAD
rs748752793
CA4493766
83 F>Y No ClinGen
ExAC
rs151300112
CA4493767
86 R>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4493770
rs2303312
87 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4493769
rs2303312
VAR_020077
87 P>S No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA369322571
rs2303312
87 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1222831385
CA369322602
92 A>T No ClinGen
gnomAD
rs1585751827
CA369322612
93 F>S No ClinGen
Ensembl
TCGA novel 94 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760962667
CA4493774
98 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs568395530
CA167012747
99 D>E No ClinGen
Ensembl
CA4493776
rs754365410
99 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA369322660
rs1257311364
100 L>P No ClinGen
gnomAD
CA4493777
rs755590380
101 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA369322691
rs1472222737
105 L>V No ClinGen
gnomAD
CA167012779
rs563657501
106 D>Y No ClinGen
TOPMed
CA4493781
rs372587864
107 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA369322709
rs1227680120
108 Y>D No ClinGen
TOPMed
gnomAD
rs745623300
CA4493782
109 L>P No ClinGen
ExAC
gnomAD
rs755888697
CA4493783
110 I>F No ClinGen
ExAC
gnomAD
CA369322723
rs1400212055
110 I>T No ClinGen
gnomAD
rs779869150
CA4493784
111 H>D No ClinGen
ExAC
TOPMed
gnomAD
CA4493785
rs138234669
111 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1161467816
CA369322740
112 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA369322736
rs1360139938
112 W>* No ClinGen
gnomAD
rs140738774
CA4493786
114 Q>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA369322753
rs1311265753
CA369322752
114 Q>H No ClinGen
TOPMed
gnomAD
CA4493787
rs146306673
115 G>R No ClinGen
ESP
ExAC
gnomAD
rs1001820298
CA167012810
CA167012811
117 K>N No ClinGen
TOPMed
gnomAD
rs759990288
CA4493813
119 G>A No ClinGen
ExAC
gnomAD
CA167013415
CA369322810
rs199767638
121 D>E No ClinGen
TOPMed
gnomAD
CA167013440
rs977797786
122 L>F No ClinGen
TOPMed
gnomAD
CA369322815
rs1228322889
122 L>R No ClinGen
TOPMed
rs866151329
CA167013445
123 F>L No ClinGen
Ensembl
rs770373251
CA4493814
124 P>S No ClinGen
ExAC
gnomAD
rs139045134
CA4493815
125 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA369322831
rs1562930252
125 K>R No ClinGen
Ensembl
rs763551589
CA369322843
127 D>N No ClinGen
ExAC
gnomAD
rs763551589
CA4493816
127 D>Y No ClinGen
ExAC
gnomAD
CA167013464
rs200050710
128 K>E No ClinGen
1000Genomes
rs201931122
CA167013470
128 K>N No ClinGen
1000Genomes
TOPMed
gnomAD
TCGA novel 129 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1307110178
CA369322873
131 A>G No ClinGen
TOPMed
CA4493817
rs764062612
131 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs751722171
CA4493818
132 I>T No ClinGen
ExAC
gnomAD
CA4493819
COSM1496511
rs762021185
133 G>S kidney [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
COSM109599
CA167013514
rs148486050
134 G>R Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs767733590
CA4493820
137 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs202241431
CA4493821
138 F>C No ClinGen
1000Genomes
ExAC
gnomAD
rs1240363170
CA369322912
138 F>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs754791433
CA4493822
138 F>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA167013541
rs574158757
140 D>V No ClinGen
1000Genomes
rs201265934
CA167013544
141 A>V No ClinGen
1000Genomes
TCGA novel 143 E>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA369322969
rs1278345272
144 A>V No ClinGen
gnomAD
rs1319148710
CA369322971
145 M>V No ClinGen
TOPMed
gnomAD
rs745488997
CA4493850
146 E>A No ClinGen
ExAC
gnomAD
CA369322997
rs755891882
148 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs755891882
CA4493851
148 L>R No ClinGen
ExAC
TOPMed
gnomAD
rs1257069883
CA369323001
149 V>A No ClinGen
TOPMed
gnomAD
CA4493852
rs780281780
149 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA369323005
rs1415157276
150 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA369323011
rs1468618431
151 E>K No ClinGen
TOPMed
rs1427808653
CA369323025
153 L>M No ClinGen
gnomAD
CA369323033
rs1379350334
154 V>G No ClinGen
gnomAD
CA4493855
rs774946368
154 V>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 156 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs748188770
CA4493857
156 A>T No ClinGen
ExAC
gnomAD
rs772109214
CA4493858
157 L>F No ClinGen
ExAC
gnomAD
rs773330080
CA4493859
159 V>F No ClinGen
ExAC
gnomAD
CA369323063
rs1585755761
159 V>G No ClinGen
Ensembl
CA4493863
rs372195311
163 S>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372195311
CA4493862
163 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377213229
CA167015464
164 H>Y No ClinGen
ESP
gnomAD
CA4493864
rs763895001
165 F>S No ClinGen
ExAC
gnomAD
TCGA novel 166 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA369323126
rs1280079840
168 E>D No ClinGen
gnomAD
CA4493867
rs148661873
168 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs397842944
CA4493868
169 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA4493871
rs141276121
172 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4493870
rs779772332
172 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA167015580
rs796162477
174 P>H No ClinGen
Ensembl
rs1184899886
CA369323172
175 G>V No ClinGen
gnomAD
CA4493872
rs755403083
177 K>I No ClinGen
ExAC
TOPMed
gnomAD
CA369323182
rs755403083
177 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs150738610
CA4493873
178 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4493875
rs772625603
180 P>L No ClinGen
ExAC
gnomAD
rs772625603
CA369323204
180 P>R No ClinGen
ExAC
gnomAD
rs1350851971
CA369323201
180 P>S No ClinGen
TOPMed
CA4493876
rs773208886
181 V>L No ClinGen
ExAC
gnomAD
CA369323224
rs1294847595
184 Q>* No ClinGen
TOPMed
gnomAD
CA167015619
rs1050448037
184 Q>H No ClinGen
TOPMed
gnomAD
TCGA novel 185 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760571364
CA4493904
186 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA369323248
rs760571364
186 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA369323268
rs1356409573
188 H>L No ClinGen
TOPMed
gnomAD
CA369323266
rs1356409573
188 H>P No ClinGen
TOPMed
gnomAD
CA369323277
rs1562931471
190 Y>H No ClinGen
Ensembl
rs1585756169
CA369323280
190 Y>S No ClinGen
Ensembl
CA4493905
rs765893405
191 L>F No ClinGen
ExAC
gnomAD
CA4493906
rs753347797
192 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA369323300
rs1307204411
193 Q>L No ClinGen
TOPMed
COSM1448187
rs373551927
CA4493908
194 E>D large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1212032622
CA369323320
196 L>P No ClinGen
gnomAD
rs1485178167
CA369323324
197 I>V No ClinGen
TOPMed
gnomAD
rs753011473
CA369323331
198 Q>* No ClinGen
ExAC
gnomAD
CA4493909
rs753011473
198 Q>K No ClinGen
ExAC
gnomAD
rs1585756228
CA369323340
199 Y>S No ClinGen
Ensembl
CA369323365
rs1388322315
202 S>C No ClinGen
TOPMed
rs1479059327
CA369323378
204 G>D No ClinGen
TOPMed
gnomAD
CA369323380
rs1479059327
204 G>V No ClinGen
TOPMed
gnomAD
rs757758746
CA4493913
207 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201852007
CA4493914
208 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4493916
rs770087364
209 A>D No ClinGen
ExAC
gnomAD
rs1414413038
CA369323404
209 A>T No ClinGen
gnomAD
rs1374540050
CA369323415
210 Y>* No ClinGen
gnomAD
rs1342487500
CA369323413
210 Y>C No ClinGen
gnomAD
CA369323419
rs1431628120
211 S>C No ClinGen
TOPMed
gnomAD
rs780448658
CA4493917
211 S>I No ClinGen
ExAC
gnomAD
rs530444398
CA369323423
211 S>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4493919
rs771963553
213 L>R No ClinGen
ExAC
gnomAD
CA4493921
rs746951927
214 G>A No ClinGen
ExAC
gnomAD
rs772931851
CA4493920
214 G>S No ClinGen
ExAC
gnomAD
CA4493922
rs550212921
216 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 218 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4493946
rs763655379
220 W>* No ClinGen
ExAC
gnomAD
CA369323489
rs1481379459
221 A>T No ClinGen
gnomAD
rs74623569
CA4493947
223 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs376286162
CA167016284
223 P>S No ClinGen
ESP
gnomAD
rs1233420958
CA369323518
225 D>G No ClinGen
gnomAD
CA4493949
rs370215939
225 D>Y No ClinGen
ESP
ExAC
gnomAD
CA369323528
rs1417880710
226 P>R No ClinGen
TOPMed
rs1305551581
CA369323522
226 P>T No ClinGen
TOPMed
COSM106309
rs141614494
CA167016319
231 D>N skin [Cosmic] No ClinGen
cosmic curated
Ensembl
CA4493954
rs754040314
232 P>H No ClinGen
ExAC
gnomAD
TCGA novel 233 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1402681829
CA369323575
234 I>F No ClinGen
TOPMed
CA167016326
rs866672883
234 I>M No ClinGen
Ensembl
CA4493955
rs755186011
235 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA4493958
rs756970566
236 E>D No ClinGen
ExAC
gnomAD
rs751327014
CA4493957
236 E>V No ClinGen
ExAC
gnomAD
CA369323597
rs1165817735
237 I>N No ClinGen
gnomAD
rs1165817735
CA369323595
237 I>T No ClinGen
gnomAD
rs535675157
CA4493959
239 A>T No ClinGen
1000Genomes
ExAC
gnomAD
rs549613668
CA4493960
240 K>N No ClinGen
1000Genomes
ExAC
gnomAD
CA167016387
rs918591913
243 K>N No ClinGen
TOPMed
gnomAD
rs1333065534 244 T>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA167016388
rs77786363
244 T>P No ClinGen
Ensembl
COSM1548675
rs201321507
CA4493962
245 A>T lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs768309305
CA4493964
247 Q>* No ClinGen
ExAC
gnomAD
rs61735100
CA4493966
247 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs199962125
CA167016777
248 V>A No ClinGen
1000Genomes
rs1217959029
CA369323689
250 I>M No ClinGen
TOPMed
gnomAD
CA4494000
rs778283237
251 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs149850087
CA4494001
251 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757932541
CA4494003
252 F>L No ClinGen
ExAC
gnomAD
CA4494005
rs201705302
253 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4494004
rs746697858
253 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA167016816
rs202078387
254 I>T No ClinGen
1000Genomes
rs554196746
CA4494007
256 R>K No ClinGen
1000Genomes
ExAC
gnomAD
CA369323728
rs746355936
257 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs746355936
CA4494009
257 N>Y No ClinGen
ExAC
TOPMed
gnomAD
CA4494010
rs574090393
259 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4494013
rs775372358
260 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs775372358
CA369323746
260 V>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 262 P>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1449369428
CA369323770
263 K>N No ClinGen
gnomAD
CA4494015
rs200000745
265 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs774527077
CA4494016
266 T>K No ClinGen
ExAC
CA369323789
rs1204053030
267 P>A No ClinGen
TOPMed
TCGA novel 268 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs142388608
CA4494018
269 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4494017
rs142388608
269 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs146556418
CA4494019
269 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM370923
rs146556418
CA369323801
269 R>L lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs146556418
CA4494020
269 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 269 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4494022
rs752101060
274 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1381585380
CA369323841
275 Q>R No ClinGen
TOPMed
rs773515819
CA369323857
276 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs773515819
CA4494053
276 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA4494054
rs760854354
278 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs1333022461
CA369323879
279 F>I No ClinGen
TOPMed
CA369323884
rs1428077112
279 F>L No ClinGen
TOPMed
gnomAD
rs1333022461
CA369323877
279 F>V No ClinGen
TOPMed
rs1234330238
CA369323892
280 K>N No ClinGen
Ensembl
CA369323895
rs1429310006
281 L>* No ClinGen
TOPMed
rs1314771281
CA369323894
281 L>M No ClinGen
gnomAD
rs1356140056
CA369323901
282 S>G No ClinGen
gnomAD
CA4494055
rs769617480
282 S>N No ClinGen
ExAC
gnomAD
rs1364080546
CA369323936
286 M>I No ClinGen
gnomAD
CA4494056
rs3735042
VAR_020078
286 M>T No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1459825737
CA369323941
287 A>G No ClinGen
TOPMed
rs762917699
CA4494057
287 A>T No ClinGen
ExAC
gnomAD
rs1262360285
CA369323945
288 T>A No ClinGen
TOPMed
CA4494058
rs764135857
289 I>T No ClinGen
ExAC
gnomAD
CA369323951
rs1305353313
289 I>V No ClinGen
gnomAD
rs751062036
CA4494059
290 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs751062036
CA4494060
290 L>I No ClinGen
ExAC
TOPMed
gnomAD
rs1346446776
CA369323967
291 S>R No ClinGen
TOPMed
rs1249091012
CA369323984
294 R>G No ClinGen
TOPMed
rs1185236820
CA369324001
296 W>R No ClinGen
gnomAD
rs766972954
CA4494061
297 R>K No ClinGen
ExAC
gnomAD
CA4494063
rs755782533
299 C>F No ClinGen
ExAC
TOPMed
gnomAD
rs750070714
CA4494062
299 C>R No ClinGen
ExAC
gnomAD
CA369324022
rs755782533
299 C>Y No ClinGen
ExAC
TOPMed
gnomAD
rs780466117
CA4494064
300 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs754210435
CA4494065
300 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA369324033
rs201074083
301 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4494068
rs201074083
301 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1167409743
CA369324039
302 L>* No ClinGen
TOPMed
rs1395012695
CA369324038
302 L>M No ClinGen
TOPMed
rs1167409743
CA369324041
302 L>S No ClinGen
TOPMed
CA4494070
rs779419227
303 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs572616596
CA4494071
303 Q>R No ClinGen
1000Genomes
ExAC
gnomAD
rs563438026
CA4494095
COSM3698185
304 S>F Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4494096
rs781593224
305 S>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs746129203
CA4494097
308 E>K No ClinGen
ExAC
gnomAD
rs1471418488
CA369324101
309 D>E No ClinGen
TOPMed
gnomAD
CA369324098
rs1355629626
309 D>G No ClinGen
TOPMed
CA167018808
rs1056397001
310 Y>H No ClinGen
TOPMed
rs1234861201
CA369324113
311 P>R No ClinGen
gnomAD
rs140467402
CA4494099
312 F>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA167018813
rs17856271
CA167018812
312 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA4494101
VAR_013287
rs4728329
313 N>D No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs4728329
CA369324120
313 N>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA369324121
rs4728329
313 N>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4494102
rs180742689
314 A>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1165313370
CA369324144
316 Y>C No ClinGen
gnomAD
rs1384899015
CA369324149
317 Y>R No ClinGen
gnomAD

No associated diseases with O60218

2 regional properties for O60218

Type Name Position InterPro Accession
domain Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain 141 - 383 IPR002181
conserved_site Fibrinogen, conserved site 333 - 345 IPR020837

Functions

Description
EC Number 1.1.1.54 With NAD(+) or NADP(+) as acceptor
Subcellular Localization
  • Lysosome
  • Secreted
  • Secreted through a lysosome-mediated non-classical pathway
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular region The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
lysosome A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions.
mitochondrion A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.

8 GO annotations of molecular function

Name Definition
alcohol dehydrogenase (NADP+) activity Catalysis of the reaction: an alcohol + NADP+ = an aldehyde + NADPH + H+.
alditol:NADP+ 1-oxidoreductase activity Catalysis of the reaction: an alditol + NADP+ = an aldose + NADPH + H+.
aldo-keto reductase (NADP) activity Catalysis of the reaction: an alcohol + NADP+ = an aldehyde or a ketone + NADPH + H+.
allyl-alcohol dehydrogenase activity Catalysis of the reaction: allyl alcohol + NADP(+) = acrolein + H(+) + NADPH.
geranylgeranyl reductase activity Catalysis of the formation of phytyl group from the stepwise reduction of a geranylgeranyl group.
indanol dehydrogenase activity Catalysis of the reaction: indan-1-ol + NAD(P)+ = indanone + NAD(P)H + H+.
NADP-retinol dehydrogenase activity Catalysis of the reaction: all-trans-retinol + NADP+ = all-trans-retinal + NADPH + H+.
retinal dehydrogenase activity Catalysis of the reaction: retinal + NAD+ + H2O = retinoate + NADH. Acts on both 11-trans and 13-cis forms of retinal.

5 GO annotations of biological process

Name Definition
cellular detoxification of aldehyde Any process carried out at the cellular level that reduces or removes the toxicity of an aldehyde. These may include transport of aldehydes away from sensitive areas and to compartments or complexes whose purpose is sequestration of the toxic substance.
daunorubicin metabolic process The chemical reactions and pathways involving daunorubicin, a chemotherapeutic of the anthracycline family that is given as a treatment for some types of cancer.
doxorubicin metabolic process The chemical reactions and pathways involving doxorubicin, an anthracycline antibiotic, used in cancer chemotherapy.
farnesol catabolic process The chemical reactions and pathways resulting in the breakdown of the sesquiterpenoid alcohol farnesol, 3,7,11-trimethyl-2,6,10,dodecatrien-1-ol.
retinoid metabolic process The chemical reactions and pathways involving retinoids, any member of a class of isoprenoids that contain or are derived from four prenyl groups linked head-to-tail. Retinoids include retinol and retinal and structurally similar natural derivatives or synthetic compounds, but need not have vitamin A activity.

10 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P16116 AKR1B1 Aldo-keto reductase family 1 member B1 Bos taurus (Bovine) PR
P15121 AKR1B1 Aldo-keto reductase family 1 member B1 Homo sapiens (Human) PR
P45376 Akr1b1 Aldo-keto reductase family 1 member B1 Mus musculus (Mouse) PR
P45377 Akr1b8 Aldose reductase-related protein 2 Mus musculus (Mouse) PR
P80276 AKR1B1 Aldo-keto reductase family 1 member B1 Sus scrofa (Pig) PR
P07943 Akr1b1 Aldo-keto reductase family 1 member B1 Rattus norvegicus (Rat) PR
Q84TF0 AKR4C10 Aldo-keto reductase family 4 member C10 Arabidopsis thaliana (Mouse-ear cress) PR
Q9M338 AKR4C11 Aldo-keto reductase family 4 member C11 Arabidopsis thaliana (Mouse-ear cress) PR
Q0PGJ6 AKR4C9 NADPH-dependent aldo-keto reductase, chloroplastic Arabidopsis thaliana (Mouse-ear cress) PR
O80944 AKR4C8 Aldo-keto reductase family 4 member C8 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MATFVELSTK AKMPIVGLGT WKSPLGKVKE AVKVAIDAGY RHIDCAYVYQ NEHEVGEAIQ
70 80 90 100 110 120
EKIQEKAVKR EDLFIVSKLW PTFFERPLVR KAFEKTLKDL KLSYLDVYLI HWPQGFKSGD
130 140 150 160 170 180
DLFPKDDKGN AIGGKATFLD AWEAMEELVD EGLVKALGVS NFSHFQIEKL LNKPGLKYKP
190 200 210 220 230 240
VTNQVECHPY LTQEKLIQYC HSKGITVTAY SPLGSPDRPW AKPEDPSLLE DPKIKEIAAK
250 260 270 280 290 300
HKKTAAQVLI RFHIQRNVIV IPKSVTPARI VENIQVFDFK LSDEEMATIL SFNRNWRACN
310
VLQSSHLEDY PFNAEY