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

2 structures for P14384

Entry ID Method Resolution Chain Position Source
1UWY X-ray 300 A A 18-443 PDB
AF-P14384-F1 Predicted AlphaFoldDB

278 variants for P14384

Variant ID(s) Position Change Description Diseaes Association Provenance
CA238595330
rs773911120
2 D>A No ClinGen
ExAC
TOPMed
rs765398939
CA6679219
2 D>E No ClinGen
ExAC
gnomAD
CA6679220
rs773911120
2 D>G No ClinGen
ExAC
TOPMed
CA385898470
rs1285971854
4 P>L No ClinGen
TOPMed
CA385898466
rs1347272115
5 C>Y No ClinGen
TOPMed
rs904621041
CA238595329
8 L>R No ClinGen
TOPMed
gnomAD
rs747262757
CA6679215
18 L>M No ClinGen
ExAC
gnomAD
rs775211362
CA6679214
19 D>G No ClinGen
ExAC
gnomAD
TCGA novel 19 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1401508985
CA385898365
21 N>S No ClinGen
gnomAD
CA6679213
rs771913214
22 Y>C No ClinGen
ExAC
gnomAD
VAR_048600
rs7978197
CA6679212
24 R>H No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA385898342
rs7978197
24 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs747386704
CA385898338
25 Q>P No ClinGen
Ensembl
rs747386704
CA238595326
25 Q>R No ClinGen
Ensembl
CA385898323
rs1203047875
27 G>E No ClinGen
TOPMed
CA385898314
rs1423881283
28 M>I No ClinGen
gnomAD
rs1592708718
CA385898295
31 F>V No ClinGen
Ensembl
rs780241067
CA6679206
36 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA385898258
rs1238598118
36 A>V No ClinGen
gnomAD
rs568959442
CA6679205
37 Q>R No ClinGen
1000Genomes
ExAC
gnomAD
rs141809246
CA385898202
44 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6679201
rs765708241
47 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA238595323
rs1022359876
48 I>F No ClinGen
Ensembl
CA238595322
rs988639737
48 I>T No ClinGen
Ensembl
CA6679200
rs762417629
50 K>R No ClinGen
ExAC
gnomAD
CA6679199
rs753797758
52 V>M No ClinGen
ExAC
gnomAD
CA6679198
rs764250441
54 G>S No ClinGen
ExAC
gnomAD
CA385709387
rs779343663
56 N>K No ClinGen
ExAC
gnomAD
TCGA novel 59 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1360847103
CA385709349
61 V>A No ClinGen
gnomAD
rs1592661093
CA385709352
61 V>I No ClinGen
Ensembl
rs766232836
CA238499833
63 G>R No ClinGen
Ensembl
rs764078716
CA6679180
64 R>Q Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6679181
rs754429697
64 R>W No ClinGen
ExAC
gnomAD
rs760786418
CA6679179
67 K>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 67 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 68 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA238499795
rs1041764773
71 I>S No ClinGen
Ensembl
rs946111671
CA238499789
72 G>R No ClinGen
TOPMed
gnomAD
TCGA novel 87 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6679156
rs751865131
88 V>I No ClinGen
ExAC
gnomAD
rs1445152090
CA385709122
89 G>W No ClinGen
gnomAD
CA6679155
rs766079955
90 R>Q No ClinGen
ExAC
gnomAD
CA238487886
rs984733960
COSM239433
90 R>W prostate [Cosmic] No ClinGen
cosmic curated
Ensembl
CA238487862
rs149301581
97 I>T No ClinGen
ESP
TOPMed
CA6679151
rs539259654
97 I>V No ClinGen
1000Genomes
ExAC
gnomAD
rs200159655
CA6679149
99 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200159655
CA385709062
99 Y>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6679150
rs200159655
99 Y>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6679147
rs547105880
COSM2099374
101 V>I Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1221875332
CA385709044
102 T>I No ClinGen
TOPMed
CA6679146
rs771177894
104 D>E No ClinGen
ExAC
gnomAD
CA385709034
rs1473817298
104 D>N No ClinGen
gnomAD
rs1245713092
CA385709029
104 D>V No ClinGen
TOPMed
CA385709008
rs1436244285
107 D>E No ClinGen
gnomAD
CA385709013
rs749617350
107 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA6679145
rs749617350
107 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA6679143
rs528640395
114 I>M No ClinGen
1000Genomes
ExAC
gnomAD
rs371647855
CA6679142
115 N>S Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs748665239
CA6679141
116 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA385708944
rs1592645897
117 T>P No ClinGen
Ensembl
rs200449803
CA6679140
118 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA385708936
rs1357820788
119 I>L No ClinGen
gnomAD
CA6679139
rs755115719
119 I>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA6679138
rs751697670
121 I>V No ClinGen
ExAC
gnomAD
CA385708896
COSM1705911
rs1374110714
124 S>F skin [Cosmic] No ClinGen
cosmic curated
gnomAD
TCGA novel 125 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758569335
CA6679136
125 M>K No ClinGen
ExAC
gnomAD
CA6679135
rs373601584
126 N>S No ClinGen
ESP
ExAC
gnomAD
CA385708884
rs373601584
126 N>T No ClinGen
ESP
ExAC
gnomAD
CA385708879
rs1393736332
127 P>A No ClinGen
TOPMed
gnomAD
CA6679134
rs371394523
127 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1393736332
CA385708880
127 P>T No ClinGen
TOPMed
gnomAD
TCGA novel 128 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6679132
rs776780426
130 F>C No ClinGen
ExAC
gnomAD
CA6679130
rs7309831
VAR_048601
133 V>I No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA238487731
rs7309831
133 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200109630
CA6679129
138 C>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1421739313
CA385708804
138 C>Y No ClinGen
TOPMed
CA385708793
rs2228654
CA6679128
139 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1454083523
CA385708780
141 S>T No ClinGen
gnomAD
rs891753259
CA238487712
143 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA238487697
rs1010019344
144 R>K No ClinGen
TOPMed
rs752185553
CA6679111
144 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1592644145
CA385708748
145 E>K No ClinGen
Ensembl
rs1276252170
CA385708739
146 N>D No ClinGen
TOPMed
gnomAD
TCGA novel 146 N>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1480421919
CA385708727
147 Y>* No ClinGen
TOPMed
rs140860259
CA6679110
147 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1426265636
CA385708705
150 Y>C No ClinGen
TOPMed
CA6679107
rs770112320
154 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA6679106
rs200496918
154 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 155 N>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs747472128
CA6679103
158 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs941428418
CA238486007
162 Y>C No ClinGen
TOPMed
rs772112072
CA6679101
162 Y>H No ClinGen
ExAC
gnomAD
CA385708601
rs1281236209
165 V>I No ClinGen
TOPMed
rs542005461
CA6679099
170 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 172 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1211831366
CA385708523
176 K>N No ClinGen
TOPMed
rs1337753069
CA385708525
176 K>R No ClinGen
TOPMed
rs1292638463
CA385708516
177 W>* No ClinGen
TOPMed
CA6679094
rs752632758
177 W>* No ClinGen
ExAC
gnomAD
CA6679093
rs377692592
182 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 184 V>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6679092
rs751187379
184 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs751187379
CA6679091
184 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA6679089
rs762621752
185 L>V No ClinGen
ExAC
gnomAD
CA6679088
rs776910788
188 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA6679087
rs764426969
190 H>R No ClinGen
ExAC
gnomAD
CA385708430
rs1449280321
191 G>C No ClinGen
TOPMed
gnomAD
rs1449280321
CA385708432
191 G>S No ClinGen
TOPMed
gnomAD
CA385708427
rs1354338892
191 G>V No ClinGen
gnomAD
CA6679086
rs761242749
192 G>V No ClinGen
ExAC
gnomAD
CA385708417
rs1424897458
193 A>D No ClinGen
gnomAD
rs1371664076
CA385708420
193 A>T No ClinGen
TOPMed
rs1424897458
CA385708416
193 A>V No ClinGen
gnomAD
rs772173576
COSM549733
CA385708408
195 V>L lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs772173576
CA6679084
195 V>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 196 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 198 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1592643892
CA385708385
198 Y>F No ClinGen
Ensembl
rs1309486604
CA385708372
200 F>S No ClinGen
TOPMed
gnomAD
rs1368395397
CA385708374
200 F>V No ClinGen
gnomAD
rs1411241379
CA385708355
202 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA6679083
rs745895372
203 G>S No ClinGen
ExAC
rs1483347671
CA385708334
CA385708335
205 Q>H No ClinGen
gnomAD
rs1160392365
CA385708302
209 A>S No ClinGen
TOPMed
CA385708293
rs1238770439
210 L>F No ClinGen
gnomAD
CA6679071
rs141114510
210 L>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6679070
rs750145450
212 S>F No ClinGen
ExAC
gnomAD
CA238485355
rs750829225
213 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA6679068
rs764491691
216 T>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 217 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 219 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6679066
rs775950249
226 A>G No ClinGen
ExAC
gnomAD
CA385708186
rs775950249
226 A>V No ClinGen
ExAC
gnomAD
CA385708180
rs767872359
227 H>L No ClinGen
ExAC
TOPMed
gnomAD
CA6679065
rs767872359
227 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA385708173
rs1592642967
228 T>I No ClinGen
Ensembl
CA6679064
rs542142468
228 T>P No ClinGen
1000Genomes
ExAC
gnomAD
CA6679063
rs774516111
229 Y>C No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 230 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1421090455
CA385708121
236 M>K No ClinGen
gnomAD
rs1421090455
CA385708120
236 M>T No ClinGen
gnomAD
TCGA novel 239 G>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs769607646
CA6679058
241 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs993173804
CA238485242
243 K>R No ClinGen
TOPMed
TCGA novel 245 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6679056
rs781069003
246 M>V No ClinGen
ExAC
gnomAD
TCGA novel 248 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1026729471
CA238485220
250 N>S No ClinGen
Ensembl
rs899289447
CA238485215
252 V>D No ClinGen
Ensembl
CA385707975
rs1592642891
256 Y>S No ClinGen
Ensembl
rs1006581715
CA385707970
257 S>A No ClinGen
TOPMed
CA238485199
rs1006581715
257 S>T No ClinGen
TOPMed
CA6679053
rs779537699
258 W>C No ClinGen
ExAC
gnomAD
rs1407249519
CA385707942
261 L>F No ClinGen
TOPMed
rs755433068
CA6679029
265 M>I No ClinGen
ExAC
gnomAD
CA238483295
rs752088545
271 I>L No ClinGen
ExAC
gnomAD
rs752088545
CA6679028
271 I>V No ClinGen
ExAC
gnomAD
CA385707849
rs1421369561
272 W>* No ClinGen
gnomAD
rs1172994241
CA385707837
274 Q>P No ClinGen
gnomAD
rs1172994241
COSM268942
CA385707836
274 Q>R Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
TCGA novel 276 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6679027
rs766943066
277 E>* No ClinGen
ExAC
gnomAD
rs763585354
CA6679026
279 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA385707796
rs556887389
280 L>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs761925876
CA6679023
280 L>S No ClinGen
ExAC
gnomAD
rs768420844
CA385707783
282 L>M No ClinGen
ExAC
gnomAD
rs768420844
CA6679021
282 L>V No ClinGen
ExAC
gnomAD
rs1260551032
CA385707774
283 S>L No ClinGen
TOPMed
gnomAD
rs538250941
CA6679020
289 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs144731700
CA6679019
289 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs144731700
CA385707731
289 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 291 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA238483245
rs983239789
291 E>Q No ClinGen
TOPMed
TCGA novel 296 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6679017
rs745831691
297 W>C No ClinGen
ExAC
TOPMed
gnomAD
CA6679016
rs140807579
299 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6679015
rs373408348
CA6679014
300 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA385707644
rs1333259215
302 A>T No ClinGen
gnomAD
CA385707639
rs1466030752
302 A>V No ClinGen
TOPMed
gnomAD
CA385707637
rs1367375190
303 S>P No ClinGen
TOPMed
rs571167421
CA6679012
308 I>M No ClinGen
1000Genomes
ExAC
gnomAD
CA238483201
rs754707168
308 I>V No ClinGen
TOPMed
rs751932785
CA6679011
311 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs1459653542
CA385707579
311 V>L No ClinGen
TOPMed
gnomAD
CA385707546
rs1159564390
315 V>I No ClinGen
gnomAD
CA6678993
rs769504248
317 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs772879813
CA6678994
317 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs772879813
CA6678995
317 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA6678992
rs747811470
321 D>Y No ClinGen
ExAC
gnomAD
rs371003310
CA385707478
325 N>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA385707472
rs1215481607
325 N>K No ClinGen
gnomAD
rs371003310
CA6678991
325 N>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA385707466
rs1319383201
326 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA385707451
rs1350967520
329 N>H No ClinGen
gnomAD
rs758861984
CA6678990
329 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA385707452
rs1350967520
329 N>Y No ClinGen
gnomAD
CA385707436
rs1365235176
331 I>T No ClinGen
TOPMed
TCGA novel 335 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1436960622
CA385707412
335 Q>K No ClinGen
TOPMed
CA385707407
rs1224118143
335 Q>L No ClinGen
TOPMed
gnomAD
CA6678989
rs746341475
336 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs779430298
CA6678988
338 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs147258017
CA6678987
339 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA385707381
rs1292200779
339 H>Y No ClinGen
TOPMed
rs911632640
CA238476546
343 Y>C No ClinGen
TOPMed
rs1321763506
CA385707321
347 K>N No ClinGen
TOPMed
gnomAD
CA385707284
rs1319465079
352 Y>F No ClinGen
gnomAD
rs1362676028
CA385707288
352 Y>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA385707256
rs1174850401
357 P>A No ClinGen
gnomAD
CA385707248
rs1478619265
358 G>R No ClinGen
gnomAD
rs1247770005
CA385707241
359 S>F No ClinGen
TOPMed
CA6678983
rs752985109
360 Y>C No ClinGen
ExAC
gnomAD
CA385707237
rs1192233472
360 Y>H No ClinGen
gnomAD
rs1184397493
CA385707218
362 I>M No ClinGen
TOPMed
rs781424205
CA6678964
364 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs781424205
CA385707198
364 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA385707183
rs1196878793
366 V>A No ClinGen
gnomAD
CA385707169
rs1227964944
369 H>N No ClinGen
gnomAD
rs1441646806
CA385707166
369 H>P No ClinGen
TOPMed
gnomAD
rs1441646806
CA385707165
369 H>R No ClinGen
TOPMed
gnomAD
CA6678962
rs751298118
370 D>E No ClinGen
ExAC
gnomAD
CA6678963
rs755183423
370 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1013742887
CA238474536
371 P>S No ClinGen
TOPMed
gnomAD
CA385707141
rs1376867143
373 I>V No ClinGen
gnomAD
CA385707130
rs1319618223
374 T>R No ClinGen
TOPMed
CA6678960
rs139235186
379 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1191454154
CA385707091
380 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs764807912
CA6678958
380 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA385707074
rs1411171977
383 Q>E No ClinGen
gnomAD
CA385707071
rs1259591892
383 Q>L No ClinGen
TOPMed
rs766289045
CA238474465
384 N>K No ClinGen
Ensembl
CA385707049
rs1185236277
386 S>N No ClinGen
gnomAD
rs1366655950
CA385707052
386 S>R No ClinGen
TOPMed
gnomAD
CA6678957
rs761360372
386 S>R No ClinGen
ExAC
gnomAD
CA6678956
rs776037058
387 A>S No ClinGen
ExAC
gnomAD
CA6678955
rs768289010
389 K>I No ClinGen
ExAC
gnomAD
CA238474419
rs944739447
391 D>Y No ClinGen
Ensembl
CA385706971
rs1458984670
393 L>P No ClinGen
gnomAD
CA385706948
rs1471793964
396 F>L No ClinGen
Ensembl
CA385706921
rs1220913507
398 G>R No ClinGen
gnomAD
rs202163169
CA6678953
401 D>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA385706865
rs1402680314
402 S>C No ClinGen
TOPMed
CA385706853
rs1376659649
403 I>M No ClinGen
gnomAD
CA238474379
rs773598578
403 I>T No ClinGen
Ensembl
CA238474363
rs770283891
406 S>* No ClinGen
Ensembl
CA385706822
rs1344720749
407 N>H No ClinGen
TOPMed
rs771269967
CA6678952
408 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA6678950
rs778304935
411 P>S No ClinGen
ExAC
gnomAD
CA6678949
rs570491377
412 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1414698486
CA385706724
415 L>P No ClinGen
TOPMed
rs761928271
CA385706708
416 Y>* No ClinGen
ExAC
TOPMed
gnomAD
CA385706714
rs1357919158
416 Y>C No ClinGen
gnomAD
rs1347805300
CA385706719
416 Y>H No ClinGen
gnomAD
TCGA novel 419 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA238474306
rs868766423
420 P>S No ClinGen
Ensembl
TCGA novel 421 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751787601
CA6678945
421 D>H No ClinGen
ExAC
gnomAD
rs779894666
CA6678944
422 H>N No ClinGen
ExAC
gnomAD
rs1375908187
CA385706616
425 A>T No ClinGen
TOPMed
CA385706612
rs1225118329
425 A>V No ClinGen
TOPMed
rs758307993
CA6678943
426 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA6678942
rs150803446
429 S>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 431 F>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1166905799
CA385706506
433 F>L No ClinGen
gnomAD
CA385706501
rs1271084166
434 L>S No ClinGen
gnomAD
rs569139582
CA6678941
434 L>V No ClinGen
ExAC
gnomAD
rs200495418
CA6678940
435 V>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA385706492
rs1281840905
435 V>L No ClinGen
TOPMed
rs1281840905
CA385706494
435 V>M No ClinGen
TOPMed
CA6678938
rs763570499
436 S>R No ClinGen
ExAC
gnomAD
CA385706440
rs1242756654
439 H>Q No ClinGen
gnomAD
rs1318086893
CA385706437
440 I>V No ClinGen
gnomAD
CA238474275
rs1050912685
COSM942915
441 F>L Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed

No associated diseases with P14384

1 regional properties for P14384

Type Name Position InterPro Accession
domain GPCR, rhodopsin-like, 7TM 62 - 322 IPR017452

Functions

Description
EC Number 3.4.17.12 Metallocarboxypeptidases
Subcellular Localization
  • Cell membrane ; Lipid-anchor, GPI-anchor
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

6 GO annotations of cellular component

Name Definition
anchored component of membrane The component of a membrane consisting of the gene products that are tethered to the membrane only by a covalently attached anchor, such as a lipid group that is embedded in the membrane. Gene products with peptide sequences that are embedded in the membrane are excluded from this grouping.
cell surface The external part of the cell wall and/or plasma membrane.
extracellular exosome A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
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.
extracellular space That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

3 GO annotations of molecular function

Name Definition
carboxypeptidase activity Catalysis of the hydrolysis of a single C-terminal amino acid residue from a polypeptide chain.
metallocarboxypeptidase activity Catalysis of the hydrolysis of a single C-terminal amino acid residue from a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions.
zinc ion binding Binding to a zinc ion (Zn).

3 GO annotations of biological process

Name Definition
anatomical structure morphogenesis The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form.
peptide metabolic process The chemical reactions and pathways involving peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another.
protein processing Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein.

16 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P04836 CPE Carboxypeptidase E Bos taurus (Bovine) PR
Q2KJ83 CPN1 Carboxypeptidase N catalytic chain Bos taurus (Bovine) PR
Q8QGP3 CPZ Carboxypeptidase Z Gallus gallus (Chicken) PR
Q8N436 CPXM2 Inactive carboxypeptidase-like protein X2 Homo sapiens (Human) PR
Q96SM3 CPXM1 Probable carboxypeptidase X1 Homo sapiens (Human) PR
Q66K79 CPZ Carboxypeptidase Z Homo sapiens (Human) PR
Q8IUX7 AEBP1 Adipocyte enhancer-binding protein 1 Homo sapiens (Human) PR
O75976 CPD Carboxypeptidase D Homo sapiens (Human) PR
O89001 Cpd Carboxypeptidase D Mus musculus (Mouse) PR
Q9JJN5 Cpn1 Carboxypeptidase N catalytic chain Mus musculus (Mouse) PR
Q9Z100 Cpxm1 Probable carboxypeptidase X1 Mus musculus (Mouse) PR
Q9D2L5 Cpxm2 Inactive carboxypeptidase-like protein X2 Mus musculus (Mouse) PR
Q640N1 Aebp1 Adipocyte enhancer-binding protein 1 Mus musculus (Mouse) PR
Q80V42 Cpm Carboxypeptidase M Mus musculus (Mouse) PR
Q9EQV8 Cpn1 Carboxypeptidase N catalytic chain Rattus norvegicus (Rat) PR
A2RUV9 Aebp1 Adipocyte enhancer-binding protein 1 Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MDFPCLWLGL LLPLVAALDF NYHRQEGMEA FLKTVAQNYS SVTHLHSIGK SVKGRNLWVL
70 80 90 100 110 120
VVGRFPKEHR IGIPEFKYVA NMHGDETVGR ELLLHLIDYL VTSDGKDPEI TNLINSTRIH
130 140 150 160 170 180
IMPSMNPDGF EAVKKPDCYY SIGRENYNQY DLNRNFPDAF EYNNVSRQPE TVAVMKWLKT
190 200 210 220 230 240
ETFVLSANLH GGALVASYPF DNGVQATGAL YSRSLTPDDD VFQYLAHTYA SRNPNMKKGD
250 260 270 280 290 300
ECKNKMNFPN GVTNGYSWYP LQGGMQDYNY IWAQCFEITL ELSCCKYPRE EKLPSFWNNN
310 320 330 340 350 360
KASLIEYIKQ VHLGVKGQVF DQNGNPLPNV IVEVQDRKHI CPYRTNKYGE YYLLLLPGSY
370 380 390 400 410 420
IINVTVPGHD PHITKVIIPE KSQNFSALKK DILLPFQGQL DSIPVSNPSC PMIPLYRNLP
430 440
DHSAATKPSL FLFLVSLLHI FFK