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

6 structures for P13861

Entry ID Method Resolution Chain Position Source
2IZX X-ray 130 A A/B 4-44 PDB
2KYG NMR - A/B 1-45 PDB
4ZP3 X-ray 263 A A/B/C/D/E/F/G/H/I/J/K/L 2-44 PDB
5H78 X-ray 200 A A/B 5-49 PDB
5XBY X-ray 325 A A/B/C/D 5-44 PDB
AF-P13861-F1 Predicted AlphaFoldDB

303 variants for P13861

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1412304377
CA352999207
4 I>L No ClinGen
gnomAD
CA352999198
rs1559659535
5 Q>* No ClinGen
Ensembl
rs375699448
CA2387228
5 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs750807469
CA352999187
6 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA352999175
rs1200218187
8 P>L No ClinGen
gnomAD
CA352999173
rs1453787015
9 G>R No ClinGen
gnomAD
CA352999166
rs1204674286
10 L>F No ClinGen
TOPMed
gnomAD
rs1204674286
CA352999167
10 L>V No ClinGen
TOPMed
gnomAD
rs570925103
CA2387224
11 T>K No ClinGen
1000Genomes
ExAC
gnomAD
CA352999141
rs1221910832
14 L>P No ClinGen
gnomAD
CA2387223
rs755814366
15 Q>H No ClinGen
ExAC
gnomAD
rs1333004031
CA352999095
21 V>A No ClinGen
gnomAD
CA74209872
rs973354419
21 V>L No ClinGen
TOPMed
gnomAD
CA352999098
rs973354419
21 V>M No ClinGen
TOPMed
gnomAD
rs34715183
CA74209857
22 L>M No ClinGen
Ensembl
rs767096709
CA2387221
22 L>R No ClinGen
ExAC
gnomAD
CA352999086
rs1466484501
23 R>L No ClinGen
TOPMed
CA352999084
rs759540303
24 Q>* No ClinGen
ExAC
TOPMed
gnomAD
CA2387220
rs759540303
24 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs759540303
CA352999085
24 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA2387219
rs774485621
24 Q>R No ClinGen
ExAC
gnomAD
CA2387218
rs766432145
27 P>H No ClinGen
ExAC
TOPMed
gnomAD
CA74209834
rs987570661
30 V>I No ClinGen
TOPMed
gnomAD
CA74209829
rs923733922
32 F>I No ClinGen
Ensembl
CA2387215
rs769854491
33 A>S No ClinGen
ExAC
gnomAD
rs1193088664
CA352999018
34 V>A No ClinGen
gnomAD
rs979145990
CA74209821
34 V>M No ClinGen
gnomAD
rs1202019341
CA352998994
37 F>L No ClinGen
TOPMed
gnomAD
CA2387214
rs748448191
38 T>P No ClinGen
ExAC
gnomAD
rs1403941344
CA352998981
40 L>M No ClinGen
Ensembl
CA352998973
rs1277688995
41 R>L No ClinGen
gnomAD
rs768785168
CA2387212
42 E>K No ClinGen
ExAC
CA2387211
rs747107238
43 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA74209809
rs967770390
43 A>T No ClinGen
gnomAD
CA352998954
rs1575971919
44 R>L No ClinGen
Ensembl
rs550045306
CA74209779
45 A>V No ClinGen
1000Genomes
rs1365311892
CA352998943
46 P>L No ClinGen
gnomAD
CA74209776
rs916215824
47 A>V No ClinGen
TOPMed
rs955416633
CA74209773
48 S>L No ClinGen
TOPMed
CA352998932
rs1321912939
49 V>F No ClinGen
gnomAD
rs758938832
CA2387209
51 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA352998914
rs1404954295
52 A>T No ClinGen
TOPMed
gnomAD
rs181690449
CA2387208
53 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA74209768
rs997168850
53 A>V No ClinGen
TOPMed
gnomAD
rs779384345
CA2387207
54 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs1167853048
CA352998890
56 R>L No ClinGen
gnomAD
rs567753272
CA2387206
59 L>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2387205
rs752463301
60 G>D No ClinGen
ExAC
gnomAD
rs1181784306
CA352998859
61 H>L No ClinGen
gnomAD
CA352998854
rs1444050942
62 P>S No ClinGen
gnomAD
CA2387201
rs751119335
63 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA352998847
rs751119335
63 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA2387202
rs751119335
63 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1258496154
CA352998848
63 P>S No ClinGen
TOPMed
rs766378877
CA2387197
64 P>S No ClinGen
ExAC
gnomAD
CA352998841
rs1471142223
65 E>K No ClinGen
TOPMed
TCGA novel 65 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA352998832
rs1243207245
66 P>L No ClinGen
TOPMed
gnomAD
rs200759322
CA2387196
66 P>S No ClinGen
1000Genomes
ExAC
gnomAD
CA2387195
rs200759322
66 P>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1003045784
CA352998826
67 G>D No ClinGen
TOPMed
rs1003045784
CA74209721
67 G>V No ClinGen
TOPMed
rs1559658876
CA352998822
68 P>A No ClinGen
Ensembl
CA2387194
rs372669481
68 P>L No ClinGen
1000Genomes
ExAC
gnomAD
CA2387192
rs776857083
69 D>H No ClinGen
ExAC
rs1412394357
CA352998809
70 R>L No ClinGen
TOPMed
CA2387190
rs747054161
72 A>S No ClinGen
ExAC
gnomAD
rs775569804
CA2387189
73 D>N No ClinGen
ExAC
gnomAD
rs772547535
CA352998787
74 A>P No ClinGen
ExAC
gnomAD
rs772547535
CA2387188
74 A>S No ClinGen
ExAC
gnomAD
rs1288824665
CA352998779
75 K>R No ClinGen
TOPMed
gnomAD
rs1041900140
CA74209683
76 G>R No ClinGen
TOPMed
CA2387187
rs746428551
77 D>G No ClinGen
ExAC
gnomAD
CA2387186
rs779144009
78 S>R No ClinGen
ExAC
gnomAD
CA352998717
rs1408646126
80 S>* No ClinGen
TOPMed
rs771382760
CA2387185
82 E>G No ClinGen
ExAC
gnomAD
rs1230995209
CA352998655
84 E>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA2387184
rs749627616
84 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1468753114
CA352998663
84 E>V No ClinGen
gnomAD
CA352998618
rs1483249104
87 E>A No ClinGen
gnomAD
TCGA novel 88 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2387161
rs757982173
89 P>L No ClinGen
ExAC
gnomAD
CA352998032
rs1321477637
91 P>T No ClinGen
gnomAD
CA352998026
rs1343213746
92 S>G No ClinGen
TOPMed
gnomAD
rs1231100218
CA352998016
93 R>K No ClinGen
TOPMed
rs1231100218
CA352998015
93 R>T No ClinGen
TOPMed
rs749908420
CA2387160
95 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA74197844
rs867755154
97 R>Q No ClinGen
Ensembl
CA352997950
rs1575889078
101 C>S No ClinGen
Ensembl
rs1426604649
CA352997931
104 T>A No ClinGen
gnomAD
CA352997927
rs1389036041
104 T>I No ClinGen
gnomAD
rs746644588
CA2387144
107 P>A No ClinGen
ExAC
gnomAD
rs746644588
CA352997909
107 P>S No ClinGen
ExAC
gnomAD
CA2387143
rs199867642
108 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 111 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA352997870
rs1258072720
112 E>G No ClinGen
gnomAD
CA2387141
rs745337551
113 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA352997862
rs745337551
113 D>V No ClinGen
ExAC
TOPMed
gnomAD
rs778340299
CA2387140
114 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs757188386
CA2387139
115 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs749291577
CA2387138
117 R>G No ClinGen
ExAC
gnomAD
CA2387120
rs770407130
118 V>G No ClinGen
ExAC
gnomAD
CA353001030
rs748812211
119 I>F No ClinGen
ExAC
gnomAD
CA353001027
rs1457938591
119 I>S No ClinGen
gnomAD
CA2387119
rs748812211
119 I>V No ClinGen
ExAC
gnomAD
rs1156494668
CA353000999
123 T>S No ClinGen
gnomAD
CA2387117
rs777619237
125 E>K No ClinGen
ExAC
gnomAD
rs879094305
CA74190744
129 R>S No ClinGen
Ensembl
rs756075947
CA2387116
131 Q>E No ClinGen
ExAC
gnomAD
CA2387115
rs748291376
131 Q>P No ClinGen
ExAC
gnomAD
CA74190737
rs748291376
131 Q>R No ClinGen
ExAC
gnomAD
rs1266801625
CA353000942
132 E>K No ClinGen
gnomAD
rs199498651
CA2387114
134 C>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs779101322
CA74190720
136 D>G No ClinGen
gnomAD
rs755192539
CA2387113
136 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs1048055263
CA74190713
144 D>E No ClinGen
Ensembl
rs751791908
CA2387112
145 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs766465497
CA2387111
145 Q>R No ClinGen
ExAC
gnomAD
rs981554178
CA74188897
146 E>D No ClinGen
TOPMed
rs746831162
CA2387093
146 E>K No ClinGen
ExAC
gnomAD
rs746831162
CA353000832
146 E>Q No ClinGen
ExAC
gnomAD
CA2387092
rs780071307
149 S>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1433947157
CA353000806
150 Q>E No ClinGen
gnomAD
CA2387088
rs757835834
153 D>E No ClinGen
ExAC
gnomAD
CA2387089
rs560353945
153 D>N No ClinGen
1000Genomes
ExAC
gnomAD
rs1468891944
CA353000773
155 M>K No ClinGen
Ensembl
rs904524915
CA74188889
155 M>V No ClinGen
gnomAD
CA353000759
rs1559617874
157 E>K No ClinGen
Ensembl
rs1479261330
CA353000749
158 R>K No ClinGen
TOPMed
gnomAD
CA2387087
rs754364832
159 I>T No ClinGen
ExAC
gnomAD
CA353000743
rs1489021856
159 I>V No ClinGen
TOPMed
gnomAD
rs764678772
CA2387086
161 K>T No ClinGen
ExAC
gnomAD
CA2387085
rs760885038
163 D>A No ClinGen
ExAC
gnomAD
CA353000700
rs1575871937
165 H>L No ClinGen
Ensembl
rs371959163
CA2387084
165 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs182210450
CA74188880
166 V>F No ClinGen
1000Genomes
rs1277585553
CA353000691
167 I>V No ClinGen
TOPMed
gnomAD
rs762639940
CA2387082
170 G>R No ClinGen
ExAC
gnomAD
rs1211439484
CA353000660
171 D>G No ClinGen
gnomAD
CA353000656
rs1202992027
172 D>N No ClinGen
TOPMed
CA74188874
rs1021610775
173 G>E No ClinGen
Ensembl
CA2387079
rs577790327
178 V>I No ClinGen
1000Genomes
ExAC
gnomAD
CA353000600
rs1299368108
179 I>M No ClinGen
gnomAD
CA353000605
rs1365286322
179 I>V No ClinGen
gnomAD
TCGA novel 180 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1566739
rs201062271
CA2387078
181 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
TCGA novel 185 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs370852251
CA2387059
189 T>R No ClinGen
ESP
ExAC
gnomAD
rs776234506
CA2387058
190 K>T No ClinGen
ExAC
gnomAD
rs1162724619
CA353000084
191 D>H No ClinGen
TOPMed
gnomAD
rs763917555
CA2387057
192 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs1414859821
CA353000066
193 Q>P No ClinGen
gnomAD
CA2387054
rs147886817
195 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2387053
rs199776610
195 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs199776610
CA353000054
195 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2387055
rs147886817
195 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA74181611
rs936640994
197 V>I No ClinGen
Ensembl
rs1181391783
CA353000042
198 G>S No ClinGen
gnomAD
CA353000025
rs771219111
200 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA2387051
rs771219111
200 Y>F No ClinGen
ExAC
TOPMed
gnomAD
rs1450520466
CA353000008
202 N>K No ClinGen
gnomAD
rs925193841
CA74181592
202 N>S No ClinGen
gnomAD
CA353000004
rs1290226859
203 R>C No ClinGen
gnomAD
CA2387050
rs370984187
203 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA74181569
rs370984187
203 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA74181561
rs78420208
207 G>* No ClinGen
Ensembl
TCGA novel 208 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1376218502
CA352999946
212 M>I No ClinGen
gnomAD
rs756543786
CA2387048
212 M>K No ClinGen
ExAC
gnomAD
CA2387046
rs773371525
214 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs149225360
COSM308417
CA2387044
216 P>L kidney [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2387043
rs200561677
218 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs145418127
CA2387042
220 T>I No ClinGen
ESP
ExAC
gnomAD
rs1373133879
CA352999886
222 V>L No ClinGen
TOPMed
rs1410144174
CA352999874
224 T>A No ClinGen
gnomAD
CA352999852
rs1477409426
227 G>D No ClinGen
gnomAD
rs768200768
CA74181521
231 G>E No ClinGen
Ensembl
rs1408830026
CA352999796
234 R>Q No ClinGen
TOPMed
rs767517265
CA2387019
234 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1257624583
CA352999793
235 V>M No ClinGen
gnomAD
rs759599282
CA2387018
239 R>K No ClinGen
ExAC
gnomAD
CA74175186
rs745366884
241 I>L No ClinGen
TOPMed
gnomAD
CA352999751
rs1253605778
241 I>T No ClinGen
gnomAD
CA74175185
rs745366884
241 I>V No ClinGen
TOPMed
gnomAD
TCGA novel 244 N>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA352999683
CA2387014
rs773425613
250 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA2387013
rs769911537
251 M>V No ClinGen
ExAC
gnomAD
rs761839330
CA2387012
254 S>L No ClinGen
ExAC
gnomAD
CA352999653
rs1575847192
255 F>I No ClinGen
Ensembl
rs1300953461
CA352999626
258 S>C No ClinGen
TOPMed
gnomAD
rs1300953461
CA352999625
258 S>F No ClinGen
TOPMed
gnomAD
CA352999616
rs1229929940
260 P>S No ClinGen
TOPMed
gnomAD
rs747583679
CA2387009
263 K>R No ClinGen
ExAC
gnomAD
rs1575847125
CA352999579
266 E>A No ClinGen
Ensembl
rs199701451
CA74174963
270 R>* Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
gnomAD
CA74174965
rs199701451
270 R>G No ClinGen
1000Genomes
gnomAD
COSM3427692
rs776689351
CA2386992
270 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA2386991
rs768783376
273 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1157459209
CA352999515
274 V>E No ClinGen
gnomAD
CA74174928
rs1048816587
277 I>T No ClinGen
Ensembl
rs1304727640
CA352999467
281 I>T No ClinGen
gnomAD
CA2386989
rs775999526
281 I>V No ClinGen
ExAC
gnomAD
CA2386988
rs2230509
282 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1374377776
CA352999444
284 D>G No ClinGen
TOPMed
rs1462169659
CA352999441
285 G>R No ClinGen
TOPMed
rs541454235
CA2386987
287 R>C No ClinGen
1000Genomes
ExAC
gnomAD
rs779197243
CA2386986
287 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA352999425
rs779197243
287 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA74174899
rs777575285
288 I>V No ClinGen
TOPMed
gnomAD
rs1030263167
CA74174896
289 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1266447095
CA352999403
291 Q>* No ClinGen
gnomAD
rs943125403
CA74168040
294 K>R No ClinGen
TOPMed
gnomAD
rs1327413424
CA352999363
295 A>P No ClinGen
gnomAD
CA352999364
rs1327413424
295 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA2386971
rs552838278
299 Y>H No ClinGen
1000Genomes
ExAC
CA2386970
rs775458543
301 I>V No ClinGen
ExAC
gnomAD
rs1341468844
CA352999301
303 S>Y No ClinGen
TOPMed
CA2386967
rs774770539
305 E>G No ClinGen
ExAC
gnomAD
rs368472573
CA74167949
305 E>K No ClinGen
ESP
TOPMed
CA74167948
rs368472573
305 E>Q No ClinGen
ESP
TOPMed
rs1575837050
CA352999284
306 V>G No ClinGen
Ensembl
CA2386965
rs375396048
307 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA352999282
rs1468155106
307 S>R No ClinGen
TOPMed
rs776351738
CA2386964
308 I>M No ClinGen
ExAC
gnomAD
rs768453904
CA2386963
310 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs1244026936
CA352999253
311 R>K No ClinGen
gnomAD
rs987168104
CA74167889
312 S>I No ClinGen
Ensembl
CA2386962
rs202143115
313 R>G No ClinGen
1000Genomes
ExAC
gnomAD
rs1575831649
CA352998757
314 T>P No ClinGen
Ensembl
CA352998730
rs1249492445
316 S>P No ClinGen
TOPMed
gnomAD
CA2386947
rs773733467
317 N>H No ClinGen
ExAC
gnomAD
rs1437900183
CA352998713
317 N>S No ClinGen
gnomAD
CA74164459
rs1036860610
318 K>T No ClinGen
TOPMed
gnomAD
rs768399019
CA2386946
320 G>A No ClinGen
ExAC
gnomAD
CA352998639
rs978918109
322 N>K No ClinGen
Ensembl
rs7430328
CA74164432
324 E>K No ClinGen
Ensembl
CA2386944
rs112025762
COSM1692762
326 E>K skin [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs771427219
CA2386943
327 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1343266127
CA352998579
328 A>P No ClinGen
TOPMed
rs1343266127
CA352998578
328 A>S No ClinGen
TOPMed
CA2386942
rs146193506
329 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2386941
rs778783320
COSM1263054
329 R>H Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs778783320
CA352998572
329 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs1387006
CA352998559
331 H>L No ClinGen
TOPMed
gnomAD
rs1387006
CA74164363
331 H>P No ClinGen
TOPMed
gnomAD
CA352998558
rs1387006
331 H>R No ClinGen
TOPMed
gnomAD
rs1443111552
CA352998549
332 K>N No ClinGen
gnomAD
rs544709818
CA2386940
333 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2386938
rs777586837
334 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA352998494
COSM3824089
rs1334259503
340 A>V Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA2386936
rs117433616
344 N>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs117433616
CA352998476
344 N>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200188798
CA2386935
344 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1234060932
CA352998464
345 K>N No ClinGen
gnomAD
CA352998468
rs1470211366
345 K>Q No ClinGen
TOPMed
gnomAD
rs754942216
CA2386934
346 P>L No ClinGen
ExAC
gnomAD
rs754942216
CA352998458
346 P>R No ClinGen
ExAC
gnomAD
CA352998447
rs763603716
348 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs148604839
CA352998450
348 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2386932
rs148604839
348 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs763603716
CA2386931
348 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA74164199
rs920918190
349 A>T No ClinGen
TOPMed
CA352998437
rs1355333721
350 S>* No ClinGen
TOPMed
gnomAD
TCGA novel 353 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA352998421
rs1478995543
353 A>T No ClinGen
Ensembl
CA352998412
rs1311610691
354 V>A No ClinGen
TOPMed
gnomAD
CA74164197
rs80024200
355 G>E No ClinGen
gnomAD
rs762253998
CA352998397
356 D>E No ClinGen
ExAC
gnomAD
CA352998400
rs1375646539
356 D>G No ClinGen
gnomAD
CA352998404
rs1402164503
356 D>N No ClinGen
gnomAD
CA74164181
rs1015500058
358 K>Q No ClinGen
TOPMed
rs1386130525
CA352998388
358 K>T No ClinGen
gnomAD
CA2386909
rs762044416
363 D>N No ClinGen
ExAC
gnomAD
CA2386908
rs754252050
364 V>I No ClinGen
ExAC
gnomAD
CA352998316
rs1359639281
366 A>V No ClinGen
gnomAD
CA352998306
rs1575830708
368 E>K No ClinGen
Ensembl
CA2386905
rs375432861
373 P>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1173866135
CA352998267
374 C>F No ClinGen
gnomAD
CA74163704
rs1007981501
375 M>T No ClinGen
Ensembl
rs762460955
CA2386903
378 M>I No ClinGen
ExAC
gnomAD
CA352998235
rs1395103802
378 M>T No ClinGen
gnomAD
rs1447244254
CA352998217
380 R>S No ClinGen
gnomAD
rs1260569973
CA352998207
382 I>V No ClinGen
gnomAD
rs772954329
CA2386902
384 H>Y No ClinGen
ExAC
gnomAD
CA2386901
rs769798310
385 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs747845378
CA2386900
390 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA2386897
rs747300998
392 M>I No ClinGen
ExAC
gnomAD
CA2386898
rs768966681
392 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs370946857
CA74163649
392 M>V No ClinGen
ESP
gnomAD
rs780266948
CA2386896
393 F>S No ClinGen
ExAC
gnomAD
rs148076464
CA2386895
394 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA352998119
rs1311011907
395 S>A No ClinGen
gnomAD
rs377673441
CA352998112
396 S>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs377673441
CA2386894
396 S>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs779242095
CA352998109
396 S>R No ClinGen
ExAC
gnomAD
rs754123758
CA2386891
397 V>A No ClinGen
ExAC
gnomAD
rs146859772
CA2386892
397 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1206703631
CA352998091
400 G>S No ClinGen
TOPMed
rs754615800
CA2386889
401 N>S No ClinGen
ExAC
gnomAD
rs1013537238
CA74163590
402 L>R No ClinGen
TOPMed
gnomAD
rs374377380
CA2386887
403 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs762405819
CA352998065
404 Q>P No ClinGen
ExAC
TOPMed
gnomAD
rs762405819
CA2386886
404 Q>R No ClinGen
ExAC
TOPMed
gnomAD

No associated diseases with P13861

2 regional properties for P13861

Type Name Position InterPro Accession
domain SET domain 27 - 364 IPR001214
domain SMYD5, SET domain 32 - 390 IPR044422

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Cell membrane
  • Colocalizes with PJA2 in the cytoplasm and the cell membrane
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

12 GO annotations of cellular component

Name Definition
cAMP-dependent protein kinase complex An enzyme complex, composed of regulatory and catalytic subunits, that catalyzes protein phosphorylation. Inactive forms of the enzyme have two regulatory chains and two catalytic chains; activation by cAMP produces two active catalytic monomers and a regulatory dimer.
centrosome A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle.
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.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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.
focal adhesion A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nucleotide-activated protein kinase complex A protein complex that possesses nucleotide-dependent protein kinase activity. The nucleotide can be AMP (in S. pombe and human) or ADP (in S. cerevisiae).
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
plasma membrane raft A membrane raft that is part of the plasma membrane.
protein-containing complex A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.

6 GO annotations of molecular function

Name Definition
cAMP binding Binding to cAMP, the nucleotide cyclic AMP (adenosine 3',5'-cyclophosphate).
cAMP-dependent protein kinase inhibitor activity Binds to and stops, prevents or reduces the activity of a cAMP-dependent protein kinase.
cAMP-dependent protein kinase regulator activity Modulation of the activity of the enzyme cAMP-dependent protein kinase.
protein domain specific binding Binding to a specific domain of a protein.
protein kinase A catalytic subunit binding Binding to one or both of the catalytic subunits of protein kinase A.
ubiquitin protein ligase binding Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins.

2 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.
negative regulation of cAMP-dependent protein kinase activity Any process that stops, prevents or reduces the frequency, rate or extent of cAMP-dependent protein kinase activity.

23 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P07278 BCY1 cAMP-dependent protein kinase regulatory subunit Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) SS
P31322 PRKAR2B cAMP-dependent protein kinase type II-beta regulatory subunit Bos taurus (Bovine) EV
P00514 PRKAR1A cAMP-dependent protein kinase type I-alpha regulatory subunit Bos taurus (Bovine) EV
P00515 PRKAR2A cAMP-dependent protein kinase type II-alpha regulatory subunit Bos taurus (Bovine) EV
Q5ZM91 PRKAR1A cAMP-dependent protein kinase type I-alpha regulatory subunit Gallus gallus (Chicken) SS
P16905 Pka-R1 cAMP-dependent protein kinase type I regulatory subunit Drosophila melanogaster (Fruit fly) PR
P81900 Pka-R2 cAMP-dependent protein kinase type II regulatory subunit Drosophila melanogaster (Fruit fly) PR
Q96M20 CNBD2 Cyclic nucleotide-binding domain-containing protein 2 Homo sapiens (Human) PR
P10644 PRKAR1A cAMP-dependent protein kinase type I-alpha regulatory subunit Homo sapiens (Human) EV
P31321 PRKAR1B cAMP-dependent protein kinase type I-beta regulatory subunit Homo sapiens (Human) EV
P31323 PRKAR2B cAMP-dependent protein kinase type II-beta regulatory subunit Homo sapiens (Human) PR
Q9D5U8 Cnbd2 Cyclic nucleotide-binding domain-containing protein 2 Mus musculus (Mouse) PR
P12849 Prkar1b cAMP-dependent protein kinase type I-beta regulatory subunit Mus musculus (Mouse) PR
P31324 Prkar2b cAMP-dependent protein kinase type II-beta regulatory subunit Mus musculus (Mouse) PR
Q9DBC7 Prkar1a cAMP-dependent protein kinase type I-alpha regulatory subunit [Cleaved into: cAMP-dependent protein kinase type I-alpha regulatory subunit, N-terminally processed] Mus musculus (Mouse) SS
P12367 Prkar2a cAMP-dependent protein kinase type II-alpha regulatory subunit Mus musculus (Mouse) PR
P05207 PRKAR2A cAMP-dependent protein kinase type II-alpha regulatory subunit Sus scrofa (Pig) SS
P07802 PRKAR1A cAMP-dependent protein kinase type I-alpha regulatory subunit Sus scrofa (Pig) SS
P81377 Prkar1b cAMP-dependent protein kinase type I-beta regulatory subunit Rattus norvegicus (Rat) PR
P09456 Prkar1a cAMP-dependent protein kinase type I-alpha regulatory subunit Rattus norvegicus (Rat) SS
P12369 Prkar2b cAMP-dependent protein kinase type II-beta regulatory subunit Rattus norvegicus (Rat) PR
P12368 Prkar2a cAMP-dependent protein kinase type II-alpha regulatory subunit Rattus norvegicus (Rat) PR
P30625 kin-2 cAMP-dependent protein kinase regulatory subunit Caenorhabditis elegans SS
10 20 30 40 50 60
MSHIQIPPGL TELLQGYTVE VLRQQPPDLV EFAVEYFTRL REARAPASVL PAATPRQSLG
70 80 90 100 110 120
HPPPEPGPDR VADAKGDSES EEDEDLEVPV PSRFNRRVSV CAETYNPDEE EEDTDPRVIH
130 140 150 160 170 180
PKTDEQRCRL QEACKDILLF KNLDQEQLSQ VLDAMFERIV KADEHVIDQG DDGDNFYVIE
190 200 210 220 230 240
RGTYDILVTK DNQTRSVGQY DNRGSFGELA LMYNTPRAAT IVATSEGSLW GLDRVTFRRI
250 260 270 280 290 300
IVKNNAKKRK MFESFIESVP LLKSLEVSER MKIVDVIGEK IYKDGERIIT QGEKADSFYI
310 320 330 340 350 360
IESGEVSILI RSRTKSNKDG GNQEVEIARC HKGQYFGELA LVTNKPRAAS AYAVGDVKCL
370 380 390 400
VMDVQAFERL LGPCMDIMKR NISHYEEQLV KMFGSSVDLG NLGQ