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

8 structures for P43378

Entry ID Method Resolution Chain Position Source
2PA5 X-ray 160 A A/B 277-582 PDB
4GE2 X-ray 180 A A/B 277-582 PDB
4GE5 X-ray 200 A A/B 277-582 PDB
4GE6 X-ray 140 A A/B 277-582 PDB
4ICZ X-ray 190 A A 277-582 PDB
6KZQ X-ray 170 A A 277-583 PDB
6L03 X-ray 208 A A 277-583 PDB
AF-P43378-F1 Predicted AlphaFoldDB

365 variants for P43378

Variant ID(s) Position Change Description Diseaes Association Provenance
rs111365423
CA272928255
2 E>V No ClinGen
Ensembl
rs1237928997
CA393458492
3 P>H No ClinGen
TOPMed
CA393458487
rs1595975683
4 A>P No ClinGen
Ensembl
CA393458448
rs1284758946
8 R>G No ClinGen
TOPMed
gnomAD
rs1349007812
CA393458442
8 R>P No ClinGen
Ensembl
CA393458445
rs1284758946
8 R>W No ClinGen
TOPMed
gnomAD
rs553966465
CA272928242
10 D>Y No ClinGen
1000Genomes
TOPMed
gnomAD
CA7668438
rs760850802
11 M>R No ClinGen
ExAC
TOPMed
gnomAD
rs1253782595
CA393458419
11 M>V No ClinGen
TOPMed
gnomAD
rs1161089495
CA393458398
12 A>V No ClinGen
gnomAD
CA393458389
rs1406642954
13 P>L No ClinGen
TOPMed
gnomAD
CA393458357
rs1595975649
16 T>I No ClinGen
Ensembl
rs1260444481
CA393458349
17 P>R No ClinGen
Ensembl
CA393458352
rs1158559646
17 P>S No ClinGen
gnomAD
CA393458329
rs1555458060
19 E>* No ClinGen
Ensembl
CA393458281
rs1444388765
21 Q>E No ClinGen
TOPMed
CA7668421
rs369859591
22 A>V No ClinGen
ESP
ExAC
gnomAD
CA7668420
rs755396738
23 T>A No ClinGen
ExAC
gnomAD
rs1220533901
CA393469687
24 K>E No ClinGen
gnomAD
CA7668419
rs114063444
24 K>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7668417
rs375533645
28 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs937186808
CA272931724
30 I>T No ClinGen
TOPMed
gnomAD
rs1469606982
CA393469427
31 N>S No ClinGen
gnomAD
rs1433936226
CA393469371
33 W>* No ClinGen
gnomAD
CA393469378
rs1178706660
33 W>G No ClinGen
gnomAD
rs1419116045
CA393469331
36 Q>E No ClinGen
gnomAD
CA393469318
rs1184825046
36 Q>R No ClinGen
gnomAD
CA272931717
rs920493765
38 N>K No ClinGen
gnomAD
CA7668415
rs767473464
38 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA7668414
rs761905346
39 V>A No ClinGen
ExAC
gnomAD
CA272931711
rs1037662041
40 S>F No ClinGen
Ensembl
CA393469177
rs1405039827
41 P>L No ClinGen
TOPMed
CA393469129
rs1360568062
44 W>R No ClinGen
TOPMed
CA393468977
rs1460823561
49 K>N No ClinGen
gnomAD
CA393468986
rs1394582559
49 K>T No ClinGen
TOPMed
gnomAD
rs768801786
CA7668412
52 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA393468895
rs1212009842
53 A>P No ClinGen
gnomAD
rs1163576337
CA393468864
54 R>G No ClinGen
TOPMed
gnomAD
rs1312376406
CA393468832
55 K>R No ClinGen
gnomAD
rs745898435
CA7668411
58 V>G No ClinGen
ExAC
TOPMed
gnomAD
rs114183309
CA7668410
60 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs538521905
CA7668409
60 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7668408
rs745765863
61 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs1567504061
CA393468586
62 I>M No ClinGen
Ensembl
CA7668407
rs781132549
65 F>Y No ClinGen
ExAC
TOPMed
gnomAD
CA7668406
rs146997520
68 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA393468374
rs1233526588
69 R>K No ClinGen
Ensembl
CA393466886
rs1371430213
72 R>G No ClinGen
gnomAD
rs771890256
CA7668385
72 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA272930019
rs771890256
72 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1366629650
CA393466799
76 G>R No ClinGen
gnomAD
rs1366629650
CA393466802
76 G>S No ClinGen
gnomAD
CA393466766
rs1166907039
78 V>I No ClinGen
gnomAD
rs1010966122
CA272930004
81 K>N No ClinGen
Ensembl
rs778660352
CA7668383
82 P>L No ClinGen
ExAC
gnomAD
CA7668382
rs756467948
83 H>D No ClinGen
ExAC
gnomAD
rs781566496
CA7668380
84 E>A No ClinGen
ExAC
rs998964264
CA272929986
84 E>K No ClinGen
TOPMed
rs751709167
CA7668378
88 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA7668377
rs141342401
88 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7668376
rs147821578
91 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA393466443
rs1246087039
93 S>R No ClinGen
gnomAD
CA7668374
rs150017042
98 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7668373
rs759261267
99 L>V No ClinGen
ExAC
gnomAD
TCGA novel 100 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7668359
rs757748650
102 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1221340132
CA393466123
102 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs374568016
CA7668357
104 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7668358
rs747532714
104 P>T No ClinGen
ExAC
gnomAD
rs1302021492
CA393466093
105 T>A No ClinGen
gnomAD
rs1329409957
CA393466087
105 T>I No ClinGen
TOPMed
CA7668356
rs758473931
107 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1390142423
CA393466064
109 I>T No ClinGen
gnomAD
rs140490690
CA7668355
109 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7668354
rs779059956
111 L>H No ClinGen
ExAC
gnomAD
rs755223048
CA7668353
113 T>S No ClinGen
ExAC
TCGA novel 115 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1305256383
CA393465936
117 H>R No ClinGen
TOPMed
CA7668351
rs766174800
120 H>D No ClinGen
ExAC
gnomAD
rs760497443
CA7668350
121 K>N No ClinGen
ExAC
gnomAD
CA7668349
rs376906988
125 H>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 127 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 129 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773901742
CA7668346
130 A>D No ClinGen
ExAC
gnomAD
rs773901742
CA7668347
130 A>G No ClinGen
ExAC
gnomAD
CA393465561
rs142284706
133 Y>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 133 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs990105299
CA272929513
140 D>H No ClinGen
Ensembl
CA7668326
rs762326530
142 F>I No ClinGen
ExAC
CA7668325
rs775209859
143 E>D No ClinGen
ExAC
gnomAD
CA393463754
rs1342752736
145 Q>E No ClinGen
gnomAD
CA393463679
rs1283579686
147 N>K No ClinGen
gnomAD
CA393463617
rs1388099911
150 V>A No ClinGen
TOPMed
CA393463624
rs761083078
150 V>L No ClinGen
ExAC
gnomAD
rs761083078
CA7668323
150 V>M No ClinGen
ExAC
gnomAD
rs1325317760 155 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA393463461
rs1334578051
157 G>D No ClinGen
gnomAD
CA7668321
rs772606890
159 N>K No ClinGen
ExAC
gnomAD
CA7668320
rs371548349
160 Y>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1169904099
CA393463401
161 A>S No ClinGen
gnomAD
rs1277376034
CA393463377
162 N>S No ClinGen
TOPMed
rs779240050
CA7668319
166 D>E No ClinGen
ExAC
gnomAD
CA272927272
rs372777107
166 D>Y No ClinGen
ESP
TOPMed
CA393463224
rs1381362325
170 K>Q No ClinGen
TOPMed
gnomAD
rs1474062695
CA393463157
173 N>H No ClinGen
gnomAD
rs749260648
CA7668317
176 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs752320396
CA7668289
178 A>E No ClinGen
ExAC
gnomAD
rs764715102
CA7668288
182 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs754427368
CA7668287
182 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA7668285
rs140000948
183 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA393459004
rs1456334575
184 K>R No ClinGen
TOPMed
CA272922956
rs905992844
185 K>N No ClinGen
Ensembl
CA7668284
rs762260127
185 K>T No ClinGen
ExAC
gnomAD
rs1183352954
CA393458966
187 L>P No ClinGen
gnomAD
CA393458923
rs1250554019
191 A>P No ClinGen
TOPMed
gnomAD
CA393458921
rs1250554019
191 A>S No ClinGen
TOPMed
gnomAD
CA7668282
rs764699404
191 A>V No ClinGen
ExAC
gnomAD
rs368001478
CA7668280
193 I>T No ClinGen
ESP
ExAC
gnomAD
rs1244773383
CA393458868
195 F>V No ClinGen
gnomAD
rs1320422354
CA393458853
196 R>Q No ClinGen
gnomAD
CA7668279
rs770004306
198 P>S No ClinGen
ExAC
gnomAD
rs537929670
CA7668278
199 Y>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1411743297
CA393458803
200 S>Y No ClinGen
gnomAD
CA393458794
rs1292997941
201 I>V No ClinGen
gnomAD
CA7668276
rs771038986
203 S>T No ClinGen
ExAC
gnomAD
CA7668273
rs772106450
208 D>N No ClinGen
ExAC
gnomAD
rs748050343
CA7668272
209 K>E No ClinGen
ExAC
gnomAD
TCGA novel 210 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs929256343
CA272922894
211 R>Q No ClinGen
TOPMed
rs370125636
CA7668271
211 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA393458643
rs1285264131
213 R>G No ClinGen
TOPMed
CA393458641
rs1567492744
213 R>K No ClinGen
Ensembl
CA393457288
rs1272764588
215 Q>R No ClinGen
TOPMed
CA272921587
rs952416662
218 K>E No ClinGen
TOPMed
gnomAD
rs758717324
CA7668245
218 K>R No ClinGen
ExAC
gnomAD
CA393457200
rs1441610912
219 T>I No ClinGen
gnomAD
rs1441610912
CA393457201
219 T>K No ClinGen
gnomAD
rs753093738
CA7668244
220 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs765888385
CA7668243
223 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA393457109
rs1318329912
223 T>S No ClinGen
gnomAD
rs1476259453
CA393457049
225 H>Q No ClinGen
TOPMed
rs1240182518
CA393457058
225 H>R No ClinGen
TOPMed
rs754031967
CA7668241
229 E>Q No ClinGen
ExAC
gnomAD
CA393456913
rs1194008529
231 L>V No ClinGen
TOPMed
rs1449429317
CA393456856
233 E>G No ClinGen
gnomAD
rs1416713349
CA393456882
233 E>K No ClinGen
TOPMed
TCGA novel 234 N>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs889232276
CA272921538
234 N>Y No ClinGen
TOPMed
rs760742888
CA7668239
236 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA393456747
rs1447877555
238 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs530559093
CA7668236
239 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA393456703
rs1347370561
240 K>R No ClinGen
gnomAD
rs774100050
CA7668235
241 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA7668231
rs769188751
244 A>G No ClinGen
ExAC
gnomAD
CA7668232
rs144459324
244 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1595956163
CA393456625
247 N>D No ClinGen
Ensembl
CA393456586
rs1326871706
249 Q>L No ClinGen
gnomAD
CA393456569
rs1333243473
250 F>L No ClinGen
gnomAD
rs1393972245
CA393456538
253 Q>H No ClinGen
gnomAD
CA393456526
rs1376859497
254 V>A No ClinGen
gnomAD
TCGA novel 254 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1353811108
CA393456533
254 V>M No ClinGen
TOPMed
CA7668230
rs146156674
255 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs144499352
CA7668228
256 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
CA393456434
rs1170216555
260 P>A No ClinGen
TOPMed
gnomAD
CA393456424
rs1350008531
261 F>V No ClinGen
TOPMed
rs779410388
CA7668226
262 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA7668224
rs754307529
264 I>M No ClinGen
ExAC
gnomAD
rs766870073
CA7668223
265 I>F No ClinGen
ExAC
CA7668221
rs373098861
265 I>M No ClinGen
ESP
ExAC
gnomAD
rs1291261300
CA393456251
268 S>F No ClinGen
gnomAD
rs767671900
CA393456229
269 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs767671900
CA7668220
269 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA7668219
rs762017100
270 P>L No ClinGen
ExAC
gnomAD
TCGA novel 270 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA272921475
rs890747262
271 P>L No ClinGen
Ensembl
CA7668217
rs763887441
273 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs762666594
CA7668216
274 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs376495976
CA7668215
275 W>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs116470185
CA272921460
275 W>R No ClinGen
1000Genomes
gnomAD
CA7668214
rs769718806
278 V>I No ClinGen
ExAC
gnomAD
CA393455967
rs1368586210
279 H>D No ClinGen
TOPMed
CA7668213
rs745414592
281 P>L No ClinGen
ExAC
gnomAD
rs1028996748
CA272921445
283 P>T No ClinGen
Ensembl
CA7668212
rs776203851
284 H>P No ClinGen
ExAC
gnomAD
rs770767796
CA7668211
285 A>G No ClinGen
ExAC
gnomAD
rs1368231884
CA393455707
286 M>I No ClinGen
gnomAD
CA272921427
CA393455483
rs996540030
292 V>L No ClinGen
TOPMed
gnomAD
CA393455475
rs1161851120
293 D>N No ClinGen
gnomAD
TCGA novel 295 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 295 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs559576371
CA272921406
297 A>D No ClinGen
1000Genomes
gnomAD
CA272921421
rs560249411
297 A>T No ClinGen
Ensembl
CA393455349
rs559576371
297 A>V No ClinGen
1000Genomes
gnomAD
TCGA novel 298 R>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 299 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA393455175
rs1328117883
304 Y>* No ClinGen
gnomAD
rs937767972
CA272921402
307 Y>* No ClinGen
TOPMed
rs1312676573
CA393455080
308 E>D No ClinGen
TOPMed
rs200342452
CA393455068
309 D>A No ClinGen
ESP
gnomAD
rs200342452
CA272921401
309 D>V No ClinGen
ESP
gnomAD
CA7668209
rs777502335
311 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs893813224
CA272921396
312 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs146356869
CA7668208
312 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs146356869
CA393454976
312 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs541229442
CA7668206
313 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7668207
rs541229442
313 E>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7668205
rs149279759
314 N>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs370139184
CA7668203
316 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs757267318
CA7668202
321 C>Y No ClinGen
ExAC
gnomAD
rs1595956094
CA393454707
322 S>C No ClinGen
Ensembl
CA393454701
rs1256412687
323 M>L No ClinGen
TOPMed
CA7668189
rs780462038
324 S>Y No ClinGen
ExAC
gnomAD
CA7668187
rs774808504
325 P>L No ClinGen
ExAC
gnomAD
CA7668188
rs770259983
325 P>S No ClinGen
ExAC
gnomAD
CA7668186
rs781608991
326 G>* No ClinGen
ExAC
gnomAD
CA393449011
rs781608991
326 G>R No ClinGen
ExAC
gnomAD
rs1372318614
CA393448984
328 L>V No ClinGen
gnomAD
CA272910278
rs200903438
329 E>K No ClinGen
1000Genomes
TCGA novel 332 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1370988548
CA393448912
333 Y>S No ClinGen
TOPMed
CA7668185
rs757356597
339 L>P No ClinGen
ExAC
gnomAD
rs1175564642
CA393448753
345 K>Q No ClinGen
gnomAD
rs778014922
CA7668183
347 T>A No ClinGen
ExAC
gnomAD
TCGA novel 349 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758645507
CA7668182
349 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA393448696
rs758645507
349 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1484731220
CA393448685
350 S>I No ClinGen
gnomAD
CA7668181
rs192954004
352 H>R No ClinGen
1000Genomes
ExAC
gnomAD
CA7668180
rs765097713
354 Q>E No ClinGen
ExAC
gnomAD
CA393445149
rs1212416571
357 Y>D No ClinGen
gnomAD
CA393445070
rs1273270542
359 N>S No ClinGen
gnomAD
CA393444662
rs758355506
368 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA393444643
rs1247300943
369 K>* No ClinGen
TOPMed
rs1036032774
CA272902939
370 N>S No ClinGen
TOPMed
rs778963922
CA7668161
373 I>T No ClinGen
ExAC
gnomAD
CA7668162
rs752970552
373 I>V No ClinGen
ExAC
gnomAD
rs868267683
CA272900087
378 P>L No ClinGen
Ensembl
rs779982140
CA7668139
381 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA7668135
rs767314169
383 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA7668136
rs750389235
383 Y>H No ClinGen
ExAC
gnomAD
rs756811878
CA7668134
384 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs186045366
CA7668133
384 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA393440628
rs1255330227
390 V>A No ClinGen
gnomAD
CA393440642
rs1467509950
390 V>I No ClinGen
gnomAD
TCGA novel 391 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1013135078
CA393440556
394 K>* No ClinGen
TOPMed
gnomAD
rs1013135078
CA272900051
394 K>Q No ClinGen
TOPMed
gnomAD
rs1250526505
CA393439991
396 L>W No ClinGen
gnomAD
rs760990870
CA7668127
403 R>C No ClinGen
ExAC
gnomAD
rs773793387
CA7668126
403 R>H No ClinGen
ExAC
gnomAD
rs1255523419
CA393482570
405 E>K No ClinGen
gnomAD
rs757841659
CA7668113
407 G>V No ClinGen
ExAC
gnomAD
CA7668110
rs761078819
408 G>S No ClinGen
ExAC
gnomAD
rs768137697
CA7668108
412 C>G No ClinGen
ExAC
gnomAD
CA272915718
rs760155067
413 G>S No ClinGen
Ensembl
rs547836130
CA7668107
414 Q>H No ClinGen
1000Genomes
ExAC
gnomAD
rs1368877291
CA393482350
414 Q>R No ClinGen
gnomAD
CA393482224
rs1383601489
419 E>G No ClinGen
gnomAD
TCGA novel 419 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs774862716
CA393482158
421 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA272915707
rs979297605
422 S>F No ClinGen
TOPMed
gnomAD
rs763085113
CA7668104
423 R>Q No ClinGen
ExAC
gnomAD
CA7668105
rs768858532
423 R>W No ClinGen
ExAC
gnomAD
rs138474126
CA7668103
424 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7668102
rs770114056
425 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7668101
rs745713152
425 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA393482091
rs745713152
425 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA393482089
rs745713152
425 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1338413537
CA393481939
431 V>M No ClinGen
TOPMed
TCGA novel 433 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA393481878
rs1429366646
433 N>S No ClinGen
gnomAD
CA7668099
rs370582138
436 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA393481740
rs1263917869
439 M>V No ClinGen
TOPMed
CA272915652
rs961245487
441 H>Q No ClinGen
TOPMed
CA393481561
rs777730659
442 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA7668097
rs777730659
442 Y>F No ClinGen
ExAC
TOPMed
gnomAD
CA7668096
rs150528240
446 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs552177179
CA7668095
446 T>M No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 448 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1292215154
CA393481308
451 N>H No ClinGen
gnomAD
rs1412531654
CA393481294
451 N>S No ClinGen
gnomAD
CA393481251
rs1453114485
452 T>I No ClinGen
TOPMed
gnomAD
CA7668071
rs751926493
455 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs751926493
CA7668070
455 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7668072
rs779716989
455 R>W Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1019576408
CA272915281
456 Q>* No ClinGen
Ensembl
CA7668069
rs764734452
456 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs370340509
CA7668068
458 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1007808448
CA272915279
458 R>H No ClinGen
TOPMed
gnomAD
rs1216667988
CA393480950
459 Q>* No ClinGen
TOPMed
rs752879409
CA7668067
464 Q>H No ClinGen
ExAC
gnomAD
CA393480766
rs1183972897
465 F>L No ClinGen
gnomAD
CA393480633
rs1458139337
470 D>Y No ClinGen
gnomAD
CA7668065
rs369309692
471 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369309692
CA7668066
471 Y>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1215206811
CA393480192
481 I>T No ClinGen
TOPMed
gnomAD
CA393480029
rs1280766894
485 R>K No ClinGen
gnomAD
rs772988079
CA7668061
489 N>T No ClinGen
ExAC
TOPMed
gnomAD
CA393479705
rs1370851647
494 A>S No ClinGen
gnomAD
rs1439473723
CA393479696
495 V>M No ClinGen
TOPMed
rs748092690
CA7668059
498 M>T No ClinGen
ExAC
gnomAD
rs1317983377
CA393479552
499 G>A No ClinGen
gnomAD
rs774206319
CA7668058
499 G>R No ClinGen
ExAC
gnomAD
rs748783045
CA393479512
500 A>E No ClinGen
ExAC
TOPMed
gnomAD
rs563208732
CA7668057
500 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7668056
rs748783045
500 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA7668055
rs372830341
501 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA272915169
rs747400123
501 R>H No ClinGen
TOPMed
gnomAD
rs747400123
CA393479490
501 R>L No ClinGen
TOPMed
gnomAD
rs747441557
CA7668053
502 S>C No ClinGen
ExAC
gnomAD
rs747441557
CA7668054
502 S>F No ClinGen
ExAC
gnomAD
rs747441557
CA393479459
502 S>Y No ClinGen
ExAC
gnomAD
CA393479388
rs1469707293
504 G>R No ClinGen
gnomAD
TCGA novel 507 P>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1454206583
CA393479241
508 E>G No ClinGen
TOPMed
CA393479172
rs758775634
511 I>L No ClinGen
ExAC
gnomAD
rs753290383
CA7668049
511 I>T No ClinGen
ExAC
gnomAD
rs758775634
CA7668050
511 I>V No ClinGen
ExAC
gnomAD
CA393479081
rs1240176520
514 H>L No ClinGen
gnomAD
rs116225300
CA7668047
517 A>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1595943983
CA393478849
522 T>A No ClinGen
Ensembl
CA7668030
rs748504854
527 S>L No ClinGen
ExAC
gnomAD
CA393478385
rs1353701489
529 D>G No ClinGen
gnomAD
CA393478319
rs1475979959
531 C>F No ClinGen
gnomAD
rs755506201
CA7668029
533 A>S No ClinGen
ExAC
gnomAD
CA7668028
rs755506201
533 A>T No ClinGen
ExAC
gnomAD
rs1331042963
CA393478164
535 L>P No ClinGen
TOPMed
rs780198245
CA7668025
540 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA7668022
rs767676254
541 L>F No ClinGen
ExAC
gnomAD
TCGA novel 543 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1308356455
CA393477860
544 F>L No ClinGen
TOPMed
rs1194006527
CA393477832
545 Q>H No ClinGen
gnomAD
CA272914607
rs963719922
546 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
TCGA novel 548 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA393477716
rs1264582051
549 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA7668020
rs367823360
549 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA393477460
rs1251181454
557 S>G No ClinGen
gnomAD
CA7668018
rs762931038
557 S>R No ClinGen
ExAC
gnomAD
rs1030951288
CA272914583
560 T>N No ClinGen
Ensembl
CA272914581
rs1025470079
561 P>L No ClinGen
TOPMed
CA393477305
rs1259088932
562 E>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA7668015
rs759071179
564 Y>D No ClinGen
ExAC
gnomAD
rs1266673527
CA393477136
567 C>Y No ClinGen
TOPMed
CA393477097
rs776474331
568 Y>* No ClinGen
ExAC
gnomAD
rs1396618018
CA393477087
569 K>* No ClinGen
TOPMed
gnomAD
rs1396618018
CA393477089
569 K>Q No ClinGen
TOPMed
gnomAD
rs770680191
CA7668013
569 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA7668009
rs779323296
575 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA393476909
rs779323296
575 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA7668008
rs768845597
577 K>E No ClinGen
ExAC
gnomAD
rs1171085127
CA393476835
577 K>M No ClinGen
TOPMed
gnomAD
CA272914520
rs752153208
577 K>N No ClinGen
TOPMed
gnomAD
CA7668007
rs749809514
580 M>I No ClinGen
ExAC
gnomAD
rs1402526433
CA393476723
581 V>I No ClinGen
TOPMed
rs1402526433
CA393476721
581 V>L No ClinGen
TOPMed
CA393476684
rs1415138873
583 S>P No ClinGen
gnomAD
rs1012051899
CA272914506
588 L>M No ClinGen
Ensembl
CA393476558
rs1356314926
588 L>P No ClinGen
gnomAD
rs1249194516
CA393476527
589 A>T No ClinGen
gnomAD
CA393476490
rs1481891165
590 V>M No ClinGen
gnomAD
CA7668002
rs757462800
591 E>A No ClinGen
ExAC
gnomAD
rs1345626725
CA393476447
591 E>D No ClinGen
TOPMed
CA7668003
rs757462800
591 E>G No ClinGen
ExAC
gnomAD
rs1213408029
CA393476419
592 S>R No ClinGen
gnomAD

No associated diseases with P43378

6 regional properties for P43378

Type Name Position InterPro Accession
domain Tyrosine-specific protein phosphatase, PTPase domain 302 - 576 IPR000242
domain Tyrosine-specific protein phosphatases domain 481 - 565 IPR000387
domain CRAL-TRIO lipid binding domain 84 - 243 IPR001251
domain Protein-tyrosine phosphatase, catalytic 459 - 573 IPR003595
domain CRAL/TRIO, N-terminal domain 43 - 68 IPR011074
active_site Protein-tyrosine phosphatase, active site 513 - 523 IPR016130

Functions

Description
EC Number 3.1.3.48 Phosphoric monoester hydrolases
Subcellular Localization
  • Cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
neuron projection terminus The specialized, terminal region of a neuron projection such as an axon or a dendrite.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.

2 GO annotations of molecular function

Name Definition
non-membrane spanning protein tyrosine phosphatase activity Catalysis of the reaction: non-membrane spanning protein tyrosine phosphate + H2O = non-membrane spanning protein tyrosine + phosphate.
protein tyrosine phosphatase activity Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate.

4 GO annotations of biological process

Name Definition
negative regulation of neuron projection development Any process that decreases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).
peptidyl-tyrosine dephosphorylation The removal of phosphoric residues from peptidyl-O-phospho-tyrosine to form peptidyl-tyrosine.
positive regulation of protein localization to plasma membrane Any process that activates or increases the frequency, rate or extent of protein localization to plasma membrane.
protein dephosphorylation The process of removing one or more phosphoric residues from a protein.

7 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P08575 PTPRC Receptor-type tyrosine-protein phosphatase C Homo sapiens (Human) PR
P28827 PTPRM Receptor-type tyrosine-protein phosphatase mu Homo sapiens (Human) PR
Q15262 PTPRK Receptor-type tyrosine-protein phosphatase kappa Homo sapiens (Human) PR
P10586 PTPRF Receptor-type tyrosine-protein phosphatase F Homo sapiens (Human) PR
P23468 PTPRD Receptor-type tyrosine-protein phosphatase delta Homo sapiens (Human) PR
Q13332 PTPRS Receptor-type tyrosine-protein phosphatase S Homo sapiens (Human) PR
Q641Z2 Ptpn9 Tyrosine-protein phosphatase non-receptor type 9 Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MEPATAPRPD MAPELTPEEE QATKQFLEEI NKWTVQYNVS PLSWNVAVKF LMARKFDVLR
70 80 90 100 110 120
AIELFHSYRE TRRKEGIVKL KPHEEPLRSE ILSGKFTILN VRDPTGASIA LFTARLHHPH
130 140 150 160 170 180
KSVQHVVLQA LFYLLDRAVD SFETQRNGLV FIYDMCGSNY ANFELDLGKK VLNLLKGAFP
190 200 210 220 230 240
ARLKKVLIVG APIWFRVPYS IISLLLKDKV RERIQILKTS EVTQHLPREC LPENLGGYVK
250 260 270 280 290 300
IDLATWNFQF LPQVNGHPDP FDEIILFSLP PALDWDSVHV PGPHAMTIQE LVDYVNARQK
310 320 330 340 350 360
QGIYEEYEDI RRENPVGTFH CSMSPGNLEK NRYGDVPCLD QTRVKLTKRS GHTQTDYINA
370 380 390 400 410 420
SFMDGYKQKN AYIGTQGPLE NTYRDFWLMV WEQKVLVIVM TTRFEEGGRR KCGQYWPLEK
430 440 450 460 470 480
DSRIRFGFLT VTNLGVENMN HYKKTTLEIH NTEERQKRQV THFQFLSWPD YGVPSSAASL
490 500 510 520 530 540
IDFLRVVRNQ QSLAVSNMGA RSKGQCPEPP IVVHCSAGIG RTGTFCSLDI CLAQLEELGT
550 560 570 580 590
LNVFQTVSRM RTQRAFSIQT PEQYYFCYKA ILEFAEKEGM VSSGQNLLAV ESQ