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

144-166 (Activation loop from InterPro)

Target domain

4-285 (Protein kinase domain)

Relief mechanism

Assay

Autoinhibited structure

Activated structure

1 structures for Q9UQ07

Entry ID Method Resolution Chain Position Source
AF-Q9UQ07-F1 Predicted AlphaFoldDB

389 variants for Q9UQ07

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV000714770
rs769431982
211 I>missing Mucopolysaccharidosis, MPS-III-D [ClinVar] Yes ClinVar
dbSNP
rs1465670482
CA391012935
4 Y>* No ClinGen
TOPMed
CA7356378
rs761337400
4 Y>C No ClinGen
ExAC
gnomAD
CA7356377
rs370364818
5 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 6 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7356376
rs762488901
7 I>L No ClinGen
ExAC
gnomAD
rs762488901
CA7356375
7 I>V No ClinGen
ExAC
gnomAD
rs374254061
CA7356374
8 G>V No ClinGen
ESP
ExAC
gnomAD
rs1193208049
CA391012753
9 K>R No ClinGen
gnomAD
CA391012705
rs1487604908
10 I>M No ClinGen
gnomAD
CA267028109
rs988120968
12 E>G No ClinGen
TOPMed
rs1299813954
CA391012614
14 T>A No ClinGen
Ensembl
rs746409818
CA7356371
14 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA391012501
rs1275748654
17 E>K No ClinGen
TOPMed
rs1231657667
CA391012406
19 M>I No ClinGen
gnomAD
rs917372014
CA267028073
19 M>T No ClinGen
gnomAD
rs776831036
CA7356369
20 K>R No ClinGen
ExAC
gnomAD
CA7356368
rs771376564
21 M>T No ClinGen
ExAC
gnomAD
CA7356367
rs56283342
22 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1376920292
CA391012124
27 G>R No ClinGen
TOPMed
gnomAD
CA7356363
rs142873895
30 Y>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1272283587
CA391011978
31 A>T No ClinGen
TOPMed
CA7356362
rs141044352
31 A>V No ClinGen
1000Genomes
ExAC
gnomAD
rs747544552
CA267028022
37 Q>* No ClinGen
gnomAD
CA267028017
rs140574092
37 Q>H No ClinGen
ESP
TOPMed
rs1409943456
CA391011772
37 Q>L No ClinGen
gnomAD
rs369798345
CA7356361
38 R>C No ClinGen
ESP
ExAC
gnomAD
CA7356359
rs34114580
VAR_042011
38 R>H No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA7356360
rs34114580
38 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA267028012
rs369798345
38 R>S No ClinGen
ESP
ExAC
gnomAD
rs751319494
CA7356357
41 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA391032126
rs1286927711
42 I>N No ClinGen
TOPMed
CA7356331
rs190817595
42 I>V No ClinGen
1000Genomes
ExAC
gnomAD
CA391032063
rs1309723623
45 V>F No ClinGen
TOPMed
gnomAD
CA391032049
rs1597441503
46 N>D No ClinGen
Ensembl
rs1305643956
CA391032035
46 N>I No ClinGen
gnomAD
rs1305643956
CA391032038
46 N>S No ClinGen
gnomAD
CA391031969
rs1197725993
48 L>P No ClinGen
TOPMed
CA7356327
rs141604419
49 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
TCGA novel 49 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA391031920
rs1567195696
50 E>D No ClinGen
Ensembl
CA391031892
rs1273822342
51 I>M No ClinGen
TOPMed
CA7356324
rs538460156
51 I>T No ClinGen
1000Genomes
ExAC
CA391031915
rs1387966273
51 I>V No ClinGen
gnomAD
CA391031890
rs1161193006
52 Q>E No ClinGen
gnomAD
rs1463473371
CA391031885
52 Q>P No ClinGen
gnomAD
CA7356321
rs780024030
54 L>P No ClinGen
ExAC
gnomAD
rs774789715
CA7356320
56 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA7356319
rs746962840
56 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA391031750
rs1204434669
57 L>P No ClinGen
TOPMed
rs1490794706
CA391031722
59 P>L No ClinGen
TOPMed
CA391031726
rs1490794706
59 P>Q No ClinGen
TOPMed
rs1476847771
CA391031715
60 H>R No ClinGen
TOPMed
CA7356317
rs368163826
60 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7356315
rs147983922
62 N>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7356316
rs147983922
62 N>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA267044218
rs201578878
63 I>M No ClinGen
1000Genomes
rs771538724
CA267044210
65 M>I No ClinGen
Ensembl
rs753338301
CA7356313
65 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs761210348
CA7356311
67 H>L No ClinGen
ExAC
TOPMed
gnomAD
CA391031595
rs1305671205
67 H>Q No ClinGen
gnomAD
CA391031583
rs1323337427
68 E>D No ClinGen
TOPMed
rs750938879
CA7356310
68 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA391031571
rs1329656046
69 V>G No ClinGen
TOPMed
TCGA novel
CA391030692
rs1413399549
73 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
gnomAD
NCI-TCGA
CA267042965
rs746805358
75 S>C No ClinGen
Ensembl
CA267042961
rs779785455
76 G>C No ClinGen
Ensembl
CA7356288
rs764410321
78 L>V No ClinGen
ExAC
gnomAD
TCGA novel 81 I>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 81 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs541820418
CA267042946
81 I>V No ClinGen
Ensembl
CA391030549
rs1475726225
82 C>R No ClinGen
TOPMed
TCGA novel 84 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs34084056
CA7356286
VAR_042012
86 D>N No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSM1300404
CA7356284
rs374179019
87 M>I urinary_tract [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1471900021
CA391030441
87 M>R No ClinGen
gnomAD
CA7356285
rs765357212
87 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA267042919
rs745751072
89 I>V No ClinGen
Ensembl
rs1188819160
CA391030382
90 Y>* No ClinGen
gnomAD
rs776862865
CA7356283
92 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA7356282
rs34931752
94 R>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA267042914
rs559580209
94 R>L No ClinGen
1000Genomes
ExAC
CA7356281
rs559580209
94 R>Q No ClinGen
1000Genomes
ExAC
rs759859471
CA7356264
95 G>E No ClinGen
ExAC
gnomAD
rs1207147617
CA391030310
95 G>R No ClinGen
gnomAD
CA391027175
rs1284806277
101 S>P No ClinGen
TOPMed
rs753079987 105 I>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1481923340
CA391027041
105 I>M No ClinGen
TOPMed
rs145834415
CA7356260
105 I>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
CA7356259
rs145834415
105 I>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
CA7356255
rs140674206
106 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs774485388
CA7356256
106 M>L No ClinGen
ExAC
gnomAD
CA7356253
rs775365714
107 H>Q No ClinGen
ExAC
gnomAD
CA391026993
rs1449863124
107 H>R No ClinGen
gnomAD
rs146870455
CA7356254
107 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs769295095
CA7356252
109 M>I No ClinGen
ExAC
gnomAD
rs1214695054
CA391026952
109 M>L No ClinGen
gnomAD
rs912972442
CA267037329
109 M>T No ClinGen
TOPMed
gnomAD
rs1236065638
CA391026817
113 C>R No ClinGen
TOPMed
gnomAD
rs150272788
CA7356251
114 K>T No ClinGen
ESP
ExAC
gnomAD
rs988500240
CA267037324
115 S>F No ClinGen
TOPMed
gnomAD
CA267037317
rs1035713810
119 I>T No ClinGen
gnomAD
rs1463507341
CA391026654
120 H>R No ClinGen
TOPMed
CA267037312
rs1003763325
120 H>Y No ClinGen
TOPMed
rs1409915442
CA391026564
122 N>K No ClinGen
gnomAD
rs1472224633
CA391026555
123 G>E No ClinGen
gnomAD
rs1182555300
CA391026558
123 G>R No ClinGen
gnomAD
CA7356223
rs754105740
124 I>V No ClinGen
ExAC
gnomAD
TCGA novel 125 F>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1189513527
CA391026518
126 H>Y No ClinGen
TOPMed
gnomAD
CA7356222
rs780354764
127 R>G No ClinGen
ExAC
gnomAD
CA7356220
rs567505262
129 V>I No ClinGen
1000Genomes
ExAC
gnomAD
CA7356217
rs752741237
132 E>* No ClinGen
ExAC
gnomAD
rs765015108
CA7356216
133 N>T No ClinGen
ExAC
gnomAD
CA7356214
rs376187124
134 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7356215
rs752147803
134 I>T No ClinGen
ExAC
gnomAD
CA391026398
rs1380019193
135 L>V No ClinGen
gnomAD
CA391026388
rs1254906267
136 I>L No ClinGen
gnomAD
CA391026384
rs1347113074
136 I>T No ClinGen
gnomAD
rs149850506
RCV000901420
CA7356213
137 K>N No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1233760405
CA391025651
138 Q>* No ClinGen
gnomAD
CA7356177
rs372368259
139 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7356176
rs534955495
142 K>R No ClinGen
ExAC
rs1411598080
CA391025520
144 G>E No ClinGen
TOPMed
gnomAD
CA391025509
rs1388855605
145 D>N No ClinGen
TOPMed
rs767135878
CA7356174
146 F>L No ClinGen
ExAC
gnomAD
CA391025478
rs1306942878
146 F>S No ClinGen
TOPMed
gnomAD
rs546771266
CA7356172
150 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs151048366
CA7356173
150 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1377439090
CA391025356
151 S>N No ClinGen
gnomAD
CA391025342
rs1473896907
152 V>I No ClinGen
gnomAD
rs530261371
CA7356170
153 Y>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs368305066
CA7356171
153 Y>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA391025317
rs530261371
153 Y>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA391025239
rs1280780306
157 P>L No ClinGen
TOPMed
gnomAD
CA391025237
rs1280780306
157 P>R No ClinGen
TOPMed
gnomAD
CA7356168
rs770210905
159 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs770210905
CA391025204
159 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs895422803
CA391025134
CA267036895
161 Y>* No ClinGen
TOPMed
gnomAD
CA391025123
rs1274984526
162 I>S No ClinGen
gnomAD
CA7356166
rs776882507
162 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1287624455
CA391025103
163 S>F No ClinGen
gnomAD
CA391025099
rs1597366563
164 T>P No ClinGen
Ensembl
CA7356164
rs747272869
165 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7356163
rs777807343
165 R>H No ClinGen
ExAC
gnomAD
CA391025040
rs1268794893
166 W>* No ClinGen
gnomAD
rs1597366480
CA391024997
167 Y>D No ClinGen
Ensembl
rs181921234
CA7356161
168 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs772195338
CA7356162
168 R>W No ClinGen
ExAC
gnomAD
rs1459139626
CA391024915
169 A>V No ClinGen
gnomAD
CA7356158
rs372487342
170 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs144650917
CA7356159
170 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144650917
CA7356160
170 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1239296624
CA391024819
172 C>S No ClinGen
gnomAD
rs751920771
CA267036872
172 C>Y No ClinGen
TOPMed
gnomAD
TCGA novel 176 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7356155
rs751317725
177 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA391024654
rs1597366212
178 F>V No ClinGen
Ensembl
TCGA novel 179 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1308652565
CA391024634
179 Y>H No ClinGen
gnomAD
rs763695568
CA7356154
180 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs765727739
CA7356152
CA7356151
181 Y>* No ClinGen
ExAC
TOPMed
gnomAD
CA7356150
rs759992875
182 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA7356149
rs777024727
184 D>N No ClinGen
ExAC
gnomAD
CA391024350
rs1254566330
186 W>* No ClinGen
TOPMed
rs760872343
CA7356147
186 W>* No ClinGen
ExAC
gnomAD
rs1389872445
CA391024271
187 S>R No ClinGen
gnomAD
CA267036827
rs912683364
188 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1484236277
CA391024207
188 A>V No ClinGen
TOPMed
CA7356145
rs772285281
189 G>D No ClinGen
ExAC
gnomAD
CA391024199
rs1416580204
189 G>S No ClinGen
TOPMed
gnomAD
rs748164414
CA7356144
190 C>S No ClinGen
ExAC
gnomAD
CA391024125
rs1471693573
190 C>S No ClinGen
TOPMed
rs1378222793
CA391024107
191 V>M No ClinGen
TOPMed
CA7356142
rs370137423
194 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7356141
rs370137423
194 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA267036810
rs757188060
196 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA7356139
rs757188060
196 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA7356138
rs746809964
196 A>V No ClinGen
ExAC
gnomAD
CA7356137
rs777514411
197 S>T No ClinGen
ExAC
gnomAD
rs750741508
CA7356111
198 L>R No ClinGen
ExAC
gnomAD
rs756636074
CA7356112
198 L>V No ClinGen
ExAC
gnomAD
rs569153443
CA7356110
199 Q>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1352795722
CA391018520
200 P>L No ClinGen
TOPMed
gnomAD
rs1253865643
CA391018514
201 L>F No ClinGen
gnomAD
CA391018512
rs1182325344
201 L>P No ClinGen
TOPMed
gnomAD
rs1209418456
CA391018415
206 N>D No ClinGen
TOPMed
CA391018399
rs1253306454
206 N>K No ClinGen
TOPMed
CA7356107
rs764383623
206 N>S No ClinGen
ExAC
gnomAD
CA391018351
rs775664516
209 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA7356104
rs140509664
210 Q>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs138025237
CA7356102
210 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1322099610
CA391018288
212 S>* No ClinGen
gnomAD
CA391018229
rs1174013425
216 D>N No ClinGen
TOPMed
VAR_070930
rs148360666
CA7356056
217 V>I No ClinGen
UniProt
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs74082261
CA7356098
218 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7356096
rs768368623
219 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs748696455
CA7356095
220 T>I No ClinGen
ExAC
gnomAD
CA7356094
rs779568139
221 P>R No ClinGen
ExAC
gnomAD
CA391018148
rs1359963985
221 P>T No ClinGen
gnomAD
CA7356092
rs374797176
222 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7356091
rs374797176
222 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757500685
CA7356090
225 I>F No ClinGen
ExAC
TOPMed
gnomAD
CA267024719
rs1025489365
225 I>M No ClinGen
TOPMed
gnomAD
rs1405179150
CA391018041
227 T>A No ClinGen
gnomAD
rs763765191
CA7356089
227 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs763765191
CA7356088
227 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA391018013
rs1236514000
228 K>R No ClinGen
gnomAD
CA7356087
VAR_042013
rs34965156
230 K>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA7356086
rs752689694
231 Q>P No ClinGen
ExAC
gnomAD
CA7356064
rs372219539
232 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 232 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761841708
CA7356062
234 A>T No ClinGen
ExAC
gnomAD
CA267024370
rs765458019
235 M>I No ClinGen
Ensembl
CA267024372
rs954216890
235 M>T No ClinGen
TOPMed
CA391017503
rs1431326156
236 N>I No ClinGen
gnomAD
rs138565201
CA7356061
238 D>G No ClinGen
ESP
ExAC
gnomAD
CA391017462
rs1330963623
239 F>Y No ClinGen
TOPMed
rs554700010
CA7356059
241 F>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7356057
rs148360666
247 I>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7356055
VAR_042014
rs34299975
248 P>S No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1197554803
CA391017302
251 T>S No ClinGen
TOPMed
CA7356052
rs777988109
253 N>S No ClinGen
ExAC
gnomAD
rs779216517
CA7356049
256 P>R No ClinGen
ExAC
gnomAD
CA391017209
rs149225385
256 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7356050
rs149225385
256 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1303065123
CA391017174
258 C>R No ClinGen
gnomAD
rs1387286871
CA391017149
259 L>F No ClinGen
gnomAD
TCGA novel 260 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753928824
CA7356047
260 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA391017114
rs1597252044
261 L>F No ClinGen
Ensembl
rs766520450
CA7356046
263 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA7356044
rs145179674
264 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7356043
rs145179674
264 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7356042
rs762680831
265 M>V No ClinGen
ExAC
gnomAD
rs544129107
CA7356040
266 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs544129107
CA7356041
266 V>G No ClinGen
ExAC
TOPMed
gnomAD
rs759231064
CA7356039
267 A>T No ClinGen
ExAC
gnomAD
CA267024327
rs903717441
268 Y>C No ClinGen
TOPMed
gnomAD
CA7356037
rs770532539
270 P>S No ClinGen
ExAC
gnomAD
CA7356038
rs770532539
270 P>T No ClinGen
ExAC
gnomAD
rs1484095438
CA391016903
271 D>A No ClinGen
TOPMed
gnomAD
rs1484095438
CA391016900
271 D>G No ClinGen
TOPMed
gnomAD
rs1197414796
CA391016906
COSM284454
271 D>N Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
COSM640
CA391016876
VAR_042015
rs1567133856
272 E>D breast a breast pleomorphic lobular carcinoma sample; somatic mutation [Cosmic, UniProt] No ClinGen
cosmic curated
UniProt
Ensembl
dbSNP
TCGA novel 272 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA391016854
rs1250698064
274 I>T No ClinGen
gnomAD
CA391016842
rs754455482
275 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs754455482
CA7356033
275 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA391016833
rs1567133769
275 A>V No ClinGen
Ensembl
CA7356031
rs370359047
276 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs368133453
CA267024309
277 H>R No ClinGen
Ensembl
rs567223050
CA7356030
278 Q>* No ClinGen
1000Genomes
ExAC
gnomAD
CA7356029
rs779981179
281 Q>R No ClinGen
ExAC
CA267024303
rs970806529
282 H>L No ClinGen
TOPMed
rs1411537268
CA391016719
282 H>Q No ClinGen
gnomAD
rs550324505
CA7356027
284 Y>S No ClinGen
1000Genomes
ExAC
gnomAD
CA7356026
rs764047005
286 Q>* No ClinGen
ExAC
gnomAD
rs1403898066
CA391016652
286 Q>R No ClinGen
TOPMed
gnomAD
TCGA novel 287 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 288 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758366870
CA7356025
289 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA391016471
rs1437702579
291 T>I No ClinGen
TOPMed
gnomAD
CA391016422
rs1186223605
293 K>R No ClinGen
gnomAD
rs747099142
CA7355987
294 R>Q No ClinGen
ExAC
gnomAD
CA7355988
rs201589543
294 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7355986
rs778767225
295 A>S No ClinGen
ExAC
gnomAD
rs1465688640
CA391016356
296 L>P No ClinGen
TOPMed
rs1465688640
CA391016354
296 L>R No ClinGen
TOPMed
CA391016331
rs754933467
297 G>A No ClinGen
ExAC
gnomAD
CA391016348
rs1301330553
297 G>R No ClinGen
TOPMed
CA7355985
rs754933467
297 G>V No ClinGen
ExAC
gnomAD
CA267024035
rs538410949
303 G>S No ClinGen
Ensembl
rs202050742
CA7355983
305 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1190953262
CA391016109
306 E>G No ClinGen
gnomAD
CA7355981
rs750096165
308 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA7355980
rs767131016
308 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs750096165
CA391016074
308 P>S No ClinGen
ExAC
TOPMed
gnomAD
COSM1165709
CA7355978
rs376559474
311 P>L large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs369246500
CA7355979
311 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs142160037
CA7355977
312 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA267024013
rs569285770
315 S>T No ClinGen
gnomAD
rs763411219
CA7355976
316 N>D No ClinGen
ExAC
TOPMed
rs749472975
CA7355971
318 C>* No ClinGen
ExAC
TOPMed
gnomAD
rs775903228
CA7355974
318 C>W No ClinGen
ExAC
gnomAD
CA267024006
rs918133288
318 C>Y No ClinGen
Ensembl
CA391015826
rs1429240050
319 Q>* No ClinGen
TOPMed
gnomAD
rs765578765
CA7355973
319 Q>R No ClinGen
ExAC
gnomAD
rs747117393
CA391015793
321 S>C No ClinGen
gnomAD
CA267023999
rs747117393
321 S>F No ClinGen
gnomAD
CA267023295
rs1051008426
329 Q>H No ClinGen
TOPMed
rs772097630
CA391014042
330 S>A No ClinGen
ExAC
gnomAD
rs772097630
CA7355948
330 S>P No ClinGen
ExAC
gnomAD
rs1422305127
CA391013937
333 Q>* No ClinGen
TOPMed
rs775224634
CA7355946
334 E>G No ClinGen
ExAC
gnomAD
rs1160829157
CA391013806
336 D>E No ClinGen
TOPMed
CA7355945
rs781739262
337 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs745607485
CA7355944
337 R>H No ClinGen
ExAC
gnomAD
rs1416644350
CA391013743
338 P>S No ClinGen
gnomAD
CA391013642
rs1406566883
340 R>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs756949555
CA7355942
340 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA391013611
rs1468225627
341 R>Q No ClinGen
gnomAD
COSM3952925
rs1390722946
CA391013586
342 G>* haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
gnomAD
rs746718113
CA7355941
343 P>L No ClinGen
ExAC
gnomAD
rs757783627
CA7355939
344 A>T No ClinGen
ExAC
gnomAD
CA7355937
rs779242360
345 Y>C No ClinGen
ExAC
gnomAD
CA7355938
rs200992317
345 Y>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 348 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7355936
rs755543077
349 L>R No ClinGen
ExAC
TOPMed
gnomAD
rs374806877
CA7355934
351 K>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374806877
CA7355935
351 K>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA267023268
rs909385616
352 L>P No ClinGen
TOPMed
rs760870257
CA7355933
353 K>R No ClinGen
ExAC
gnomAD
CA267023264
rs985330375
354 L>F No ClinGen
TOPMed
CA7355932
rs750706626
355 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1215486792
CA391013178
356 G>A No ClinGen
TOPMed
CA267023258
rs950904649
358 V>G No ClinGen
TOPMed
rs761740131
CA7355930
359 R>T No ClinGen
ExAC
TOPMed
gnomAD
CA267023251
rs572960058
361 S>L No ClinGen
TOPMed
rs572960058
CA391012946
361 S>W No ClinGen
TOPMed
CA267023246
rs776555918
364 S>A No ClinGen
ExAC
TOPMed
gnomAD
COSM76159
CA267023244
rs971063841
364 S>C ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA7355926
rs776555918
364 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs746805923
CA7355924
365 S>G No ClinGen
ExAC
gnomAD
CA391012814
rs1567125396
365 S>I No ClinGen
Ensembl
CA391012808
CA391012805
rs1450154085
365 S>R No ClinGen
TOPMed
gnomAD
rs1289402749
CA391012785
366 P>R No ClinGen
gnomAD
rs1367315929
CA391012792
366 P>S No ClinGen
gnomAD
rs1367315929
CA391012798
366 P>T No ClinGen
gnomAD
rs777238096
CA7355923
367 T>M No ClinGen
ExAC
gnomAD
rs777238096
CA391012746
367 T>R No ClinGen
ExAC
gnomAD
CA7355921
rs771783119
369 Q>E No ClinGen
ExAC
CA7355920
rs747574257
372 L>F No ClinGen
ExAC
gnomAD
rs370862359
CA7355919
373 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7355918
rs755452949
373 G>V No ClinGen
ExAC
gnomAD
rs376500482
CA267023222
374 S>C No ClinGen
ESP
TOPMed
rs754398378
CA7355917
375 G>V No ClinGen
ExAC
gnomAD
rs375311855
CA267023218
377 N>S No ClinGen
gnomAD
CA7355916
rs780389117
378 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA391012460
rs1286770698
378 G>R No ClinGen
TOPMed
CA391012437
rs780389117
378 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs756400941
CA7355915
379 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1291280241
CA391012387
380 V>L No ClinGen
TOPMed
gnomAD
CA267023209
rs200154662
381 P>A No ClinGen
Ensembl
rs1309063618
CA391012341
381 P>L No ClinGen
gnomAD
rs750813353
CA7355913
382 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA267023203
rs999135815
384 R>T No ClinGen
TOPMed
rs767585856
CA7355911
385 P>L No ClinGen
ExAC
gnomAD
CA7355907
rs759544127
386 L>S No ClinGen
ExAC
gnomAD
CA7355906
rs776643895
387 K>T No ClinGen
ExAC
gnomAD
CA267023185
rs571028436
389 I>M No ClinGen
1000Genomes
TCGA novel 390 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7355904
rs760501303
391 A>V No ClinGen
ExAC
gnomAD
CA7355902
rs771594873
393 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs1201737498
CA391011952
394 K>N No ClinGen
gnomAD
rs970114266
CA267023120
395 T>I No ClinGen
TOPMed
gnomAD
CA7355872
rs188685734
397 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs758728974
CA7355870
398 Q>K No ClinGen
ExAC
gnomAD
CA7355869
rs2236493
VAR_024576
398 Q>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1567123795
CA391011466
399 K>E No ClinGen
Ensembl
CA391011452
rs991599667
399 K>N No ClinGen
TOPMed
gnomAD
CA391011444
rs1597222381
400 D>A No ClinGen
Ensembl
rs755989264
CA7355867
400 D>E No ClinGen
ExAC
gnomAD
CA391011407
rs1193688499
402 K>N No ClinGen
TOPMed
rs767356918
CA7355865
402 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs767356918
CA391011411
402 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA391011399
rs1181376629
403 P>S No ClinGen
gnomAD
CA391011385
rs1417483213
404 A>S No ClinGen
gnomAD
rs1244812583
CA391011379
404 A>V No ClinGen
gnomAD
CA7355864
rs375778084
405 P>L Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs763697006
CA7355862
406 Q>K No ClinGen
ExAC
TOPMed
gnomAD
rs879228335
CA267023093
407 Q>R No ClinGen
Ensembl
rs1350796323
CA391011318
409 R>C No ClinGen
gnomAD
COSM199872
CA391011315
rs1597221902
409 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
Ensembl
rs1259573022
CA391011302
410 L>R No ClinGen
gnomAD
TCGA novel 411 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7355861
rs762631956
412 T>A No ClinGen
ExAC
rs774958063
CA7355859
413 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA391011272
rs1290953916
413 I>V No ClinGen
Ensembl
CA7355857
rs745376012
414 V>G No ClinGen
ExAC
gnomAD
rs1382444313
CA391011248
415 R>W No ClinGen
gnomAD
CA7355856
rs777138987
416 K>E No ClinGen
ExAC
gnomAD
rs771365640
CA7355855
416 K>R No ClinGen
ExAC
gnomAD
CA7355853
rs778326923
417 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs748441503
CA391011208
418 G>E No ClinGen
ExAC
gnomAD
CA7355852
rs772403983
418 G>R No ClinGen
ExAC
gnomAD
CA7355851
rs748441503
418 G>V No ClinGen
ExAC
gnomAD
rs1026112886
CA267023070
419 R>T No ClinGen
Ensembl
rs779128398
CA391011179
420 R>Y No ClinGen
ExAC
TOPMed
gnomAD

No associated diseases with Q9UQ07

3 regional properties for Q9UQ07

Type Name Position InterPro Accession
domain Protein kinase domain 4 - 285 IPR000719
active_site Serine/threonine-protein kinase, active site 124 - 136 IPR008271
binding_site Protein kinase, ATP binding site 10 - 33 IPR017441

Functions

Description
EC Number 2.7.11.22 Protein-serine/threonine kinases
Subcellular Localization
  • Cytoplasm
  • Cell projection, cilium
  • Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
ciliary base Area of the cilium (also called flagellum) where the basal body and the axoneme are anchored to the plasma membrane. The ciliary base encompasses the distal part of the basal body, transition fibers and transition zone and is structurally and functionally very distinct from the rest of the cilium. In this area proteins are sorted and filtered before entering the cilium, and many ciliary proteins localize specifically to this area.
cilium A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

6 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
cyclin-dependent protein serine/threonine kinase activity Cyclin-dependent catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.
metal ion binding Binding to a metal ion.
protein kinase activity Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP.
protein serine kinase activity Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate.
protein serine/threonine kinase activity Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.

3 GO annotations of biological process

Name Definition
intracellular signal transduction The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
protein phosphorylation The process of introducing a phosphate group on to a protein.
signal transduction The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

20 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P20794 MAK Serine/threonine-protein kinase MAK Homo sapiens (Human) PR
Q8TD08 MAPK15 Mitogen-activated protein kinase 15 Homo sapiens (Human) SS
P45984 MAPK9 Mitogen-activated protein kinase 9 Homo sapiens (Human) SS
P45983 MAPK8 Mitogen-activated protein kinase 8 Homo sapiens (Human) EV
P53779 MAPK10 Mitogen-activated protein kinase 10 Homo sapiens (Human) EV
Q9UBE8 NLK Serine/threonine-protein kinase NLK Homo sapiens (Human) SS
P27361 MAPK3 Mitogen-activated protein kinase 3 Homo sapiens (Human) SS
P28482 MAPK1 Mitogen-activated protein kinase 1 Homo sapiens (Human) EV
P31152 MAPK4 Mitogen-activated protein kinase 4 Homo sapiens (Human) SS
Q16659 MAPK6 Mitogen-activated protein kinase 6 Homo sapiens (Human) SS
Q13164 MAPK7 Mitogen-activated protein kinase 7 Homo sapiens (Human) SS
P53778 MAPK12 Mitogen-activated protein kinase 12 Homo sapiens (Human) SS
O15264 MAPK13 Mitogen-activated protein kinase 13 Homo sapiens (Human) SS
Q15759 MAPK11 Mitogen-activated protein kinase 11 Homo sapiens (Human) SS
Q16539 MAPK14 Mitogen-activated protein kinase 14 Homo sapiens (Human) SS
Q04859 Mak Serine/threonine-protein kinase MAK Mus musculus (Mouse) PR
Q9JKV2 Cilk1 Serine/threonine-protein kinase ICK Mus musculus (Mouse) PR
Q9WVS4 Mok MAPK/MAK/MRK overlapping kinase Mus musculus (Mouse) PR
P20793 Mak Serine/threonine-protein kinase MAK Rattus norvegicus (Rat) PR
P43294 MHK Serine/threonine-protein kinase MHK Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MKNYKAIGKI GEGTFSEVMK MQSLRDGNYY ACKQMKQRFE SIEQVNNLRE IQALRRLNPH
70 80 90 100 110 120
PNILMLHEVV FDRKSGSLAL ICELMDMNIY ELIRGRRYPL SEKKIMHYMY QLCKSLDHIH
130 140 150 160 170 180
RNGIFHRDVK PENILIKQDV LKLGDFGSCR SVYSKQPYTE YISTRWYRAP ECLLTDGFYT
190 200 210 220 230 240
YKMDLWSAGC VFYEIASLQP LFPGVNELDQ ISKIHDVIGT PAQKILTKFK QSRAMNFDFP
250 260 270 280 290 300
FKKGSGIPLL TTNLSPQCLS LLHAMVAYDP DERIAAHQAL QHPYFQEQRK TEKRALGSHR
310 320 330 340 350 360
KAGFPEHPVA PEPLSNSCQI SKEGRKQKQS LKQEEDRPKR RGPAYVMELP KLKLSGVVRL
370 380 390 400 410
SSYSSPTLQS VLGSGTNGRV PVLRPLKCIP ASKKTDPQKD LKPAPQQCRL PTIVRKGGR