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

5 structures for P23677

Entry ID Method Resolution Chain Position Source
1W2C X-ray 195 A A/B 197-461 PDB
1W2D X-ray 194 A A/B 197-461 PDB
1W2F X-ray 180 A A/B 188-461 PDB
4UPU X-ray 234 A B 158-183 PDB
AF-P23677-F1 Predicted AlphaFoldDB

354 variants for P23677

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1420031473
CA391833835
5 G>R No ClinGen
Ensembl
rs1160641925
CA391833847
5 G>V No ClinGen
TOPMed
CA391833916
rs1458860293
8 T>M No ClinGen
TOPMed
rs1595446812
CA391833931
9 G>D No ClinGen
Ensembl
rs1032315539
CA269709479
10 M>V No ClinGen
TOPMed
CA391833997
rs1450723667
11 A>E No ClinGen
gnomAD
rs1264995002
CA391833981
11 A>P No ClinGen
TOPMed
gnomAD
rs1247004477
CA391834050
14 G>R No ClinGen
TOPMed
rs895124797
CA269709485
15 G>D No ClinGen
TOPMed
gnomAD
CA391834094
rs895124797
15 G>V No ClinGen
TOPMed
gnomAD
rs1463426637
CA391834101
16 A>T No ClinGen
TOPMed
CA391834114
rs1247333500
16 A>V No ClinGen
TOPMed
rs1275920628
CA391834146
18 P>S No ClinGen
TOPMed
rs1218236059
CA391834266
21 P>L No ClinGen
TOPMed
rs1345287123
CA391834278
22 G>R No ClinGen
TOPMed
CA391834344
rs1471342827
25 R>W No ClinGen
TOPMed
gnomAD
rs1025177718
CA269709494
26 A>D No ClinGen
TOPMed
CA391834528
rs1437933816
32 G>R No ClinGen
TOPMed
CA269709502
rs998883504
33 E>G No ClinGen
Ensembl
CA269709503
rs970988792
35 R>C No ClinGen
TOPMed
gnomAD
CA391834778
rs1447397998
39 E>Q No ClinGen
TOPMed
rs1235172306
CA391835051
45 V>A No ClinGen
TOPMed
rs1208833842
CA391835085
47 A>T No ClinGen
TOPMed
CA269709505
rs1015048644
49 A>V No ClinGen
TOPMed
CA269709508
rs961130085
54 P>S No ClinGen
TOPMed
CA391835311
rs1335566420
55 R>G No ClinGen
gnomAD
rs974245350
CA269709515
55 R>Q No ClinGen
TOPMed
rs1335566420
CA391835306
55 R>W No ClinGen
gnomAD
CA391835335
rs1595446870
56 A>T No ClinGen
Ensembl
CA7491919
rs758741387
57 R>C No ClinGen
ExAC
gnomAD
CA391835393
rs1361211061
58 G>W No ClinGen
gnomAD
CA391835408
rs1284190693
59 A>T No ClinGen
TOPMed
CA391835455
rs919718055
61 R>G No ClinGen
TOPMed
gnomAD
CA269709526
rs919718055
61 R>W No ClinGen
TOPMed
gnomAD
rs932292229
CA269709534
62 R>P No ClinGen
TOPMed
rs985156674
CA269709538
64 G>E No ClinGen
TOPMed
TCGA novel 64 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA391835558
rs1369671869
66 V>D No ClinGen
TOPMed
CA391835575
rs1290484206
67 P>S No ClinGen
gnomAD
rs1290484206
CA391835569
67 P>T No ClinGen
gnomAD
CA7491920
rs780411374
68 N>K No ClinGen
ExAC
gnomAD
rs1489820008
CA391835615
68 N>S No ClinGen
gnomAD
CA391835630
rs1409299579
69 G>R No ClinGen
TOPMed
gnomAD
CA269709539
rs17855517
71 P>Q No ClinGen
Ensembl
rs1250913885
CA391835683
71 P>S No ClinGen
gnomAD
CA391835711
rs1179447802
72 R>L No ClinGen
gnomAD
rs747448490
CA7491921
72 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA391835725
rs1245174788
73 A>P No ClinGen
gnomAD
rs1445533783
CA391835735
73 A>V No ClinGen
TOPMed
gnomAD
CA391835774
rs1383471747
75 P>S No ClinGen
TOPMed
gnomAD
CA391835771
rs1383471747
75 P>T No ClinGen
TOPMed
gnomAD
CA391835849
rs1169028159
77 P>L No ClinGen
gnomAD
rs1396459937
CA391835869
78 V>A No ClinGen
gnomAD
rs1339172553
CA391835941
81 Q>H No ClinGen
gnomAD
CA391835937
rs1595446906
81 Q>R No ClinGen
Ensembl
rs1384535827
CA391835966
83 T>S No ClinGen
TOPMed
gnomAD
CA391835980
rs1313661702
84 V>L No ClinGen
gnomAD
CA391835975
rs1313661702
84 V>M No ClinGen
gnomAD
TCGA novel 87 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA391836057
rs1229469586
88 E>Q No ClinGen
gnomAD
CA391836100
rs1251787559
89 P>L No ClinGen
gnomAD
CA269709561
rs943936402
92 P>L No ClinGen
TOPMed
gnomAD
CA391836187
rs1244820358
92 P>S No ClinGen
gnomAD
rs1241309513
CA391836285
95 S>R No ClinGen
gnomAD
CA391836356
rs1430349720
98 P>T No ClinGen
gnomAD
CA391836379
rs1372990024
99 P>L No ClinGen
gnomAD
rs1460976511
CA391836411
101 R>Q No ClinGen
gnomAD
CA391836423
rs1595446928
102 E>Q No ClinGen
Ensembl
rs769801208
CA7491925
103 R>S No ClinGen
ExAC
gnomAD
CA7491927
rs749490354
104 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs749490354
CA391836476
104 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs993521389
CA269709599
105 C>S No ClinGen
TOPMed
CA391836583
rs1335711435
107 P>L No ClinGen
gnomAD
rs1469950762
CA391836573
107 P>S No ClinGen
gnomAD
CA7491928
rs771836632
108 A>S No ClinGen
ExAC
gnomAD
CA7491929
rs546746124
108 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs867858165
CA269709618
110 G>D No ClinGen
Ensembl
rs760607650
CA269709619
112 S>* No ClinGen
ExAC
TOPMed
gnomAD
rs760607650
CA7491930
112 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs1216731568
CA391836705
113 H>N No ClinGen
gnomAD
rs1216731568
CA391836708
113 H>Y No ClinGen
gnomAD
CA7491931
rs764104815
117 P>A No ClinGen
ExAC
gnomAD
CA269709635
rs867223462
117 P>L No ClinGen
gnomAD
CA391836845
rs867223462
117 P>Q No ClinGen
gnomAD
rs764104815
CA7491932
117 P>S No ClinGen
ExAC
gnomAD
rs761348946
CA7491933
118 R>C No ClinGen
ExAC
gnomAD
CA269709641
rs867834646
118 R>H No ClinGen
Ensembl
rs868147683
CA269709642
119 R>H No ClinGen
TOPMed
rs868147683
CA391836894
119 R>L No ClinGen
TOPMed
CA269709646
rs948390791
120 L>F No ClinGen
gnomAD
rs1261134098
CA391836917
120 L>R No ClinGen
gnomAD
CA269709650
rs867208390
121 S>Y No ClinGen
Ensembl
rs764675857
CA7491934
122 T>I No ClinGen
ExAC
gnomAD
rs867673755
CA269709651
123 S>* No ClinGen
Ensembl
CA269709660
rs866191489
125 V>F No ClinGen
Ensembl
rs936546733
CA269709665
127 S>C No ClinGen
TOPMed
gnomAD
CA391837082
rs936546733
127 S>Y No ClinGen
TOPMed
gnomAD
CA7491936
rs762516764
128 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA391837118
rs762516764
128 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs935741746
CA269709677
129 G>A No ClinGen
Ensembl
CA391837133
rs1357059383
129 G>C No ClinGen
gnomAD
CA269709694
rs867050760
131 S>* No ClinGen
Ensembl
rs548345908
CA269709686
131 S>P No ClinGen
Ensembl
CA269709709
rs867572453
133 L>M No ClinGen
Ensembl
rs891659054
CA391837285
136 D>H No ClinGen
TOPMed
gnomAD
CA269709726
rs891659054
136 D>Y No ClinGen
TOPMed
gnomAD
CA7491938
rs538709322
141 L>R No ClinGen
1000Genomes
ExAC
gnomAD
rs1299005065
CA391837420
142 L>Q No ClinGen
gnomAD
CA391837432
rs1318889845
143 S>C No ClinGen
TOPMed
gnomAD
rs1260167330
CA391837507
145 S>T No ClinGen
TOPMed
gnomAD
CA391837559
rs755383322
147 S>N No ClinGen
ExAC
gnomAD
rs755383322
CA7491939
147 S>T No ClinGen
ExAC
gnomAD
TCGA novel 148 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA269709762
rs1012655266
148 R>W No ClinGen
TOPMed
gnomAD
CA7491940
rs781639159
149 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA269709779
rs559198390
150 R>H No ClinGen
1000Genomes
gnomAD
rs756165323
CA7491942
153 V>L No ClinGen
ExAC
TOPMed
rs200462418
CA269709795
154 Q>H No ClinGen
1000Genomes
TOPMed
gnomAD
CA7491943
rs777726005
154 Q>R No ClinGen
ExAC
gnomAD
CA391837785
rs1385333476
155 L>P No ClinGen
TOPMed
rs900437484
CA391837852
157 A>E No ClinGen
TOPMed
gnomAD
rs900437484
CA391837856
157 A>G No ClinGen
TOPMed
gnomAD
rs866857596
CA269709796
157 A>T No ClinGen
Ensembl
rs900437484
CA269709801
157 A>V No ClinGen
TOPMed
gnomAD
CA391837866
rs1304489279
158 G>S No ClinGen
gnomAD
CA391837937
rs1458766684
160 D>E No ClinGen
gnomAD
CA391837951
rs1165812533
161 V>L No ClinGen
TOPMed
gnomAD
CA391837942
rs1165812533
161 V>M No ClinGen
TOPMed
gnomAD
CA7491944
rs142355356
162 G>S No ClinGen
1000Genomes
ExAC
gnomAD
CA391838023
rs1291515234
163 Q>H No ClinGen
gnomAD
CA7491945
rs771049040
163 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA7491962
rs757455469
164 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA391842616
rs1595449682
165 N>T No ClinGen
Ensembl
rs779238693
CA7491964
169 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA391842764
rs1472159576
171 R>G No ClinGen
gnomAD
rs768513082
CA7491965
171 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1472159576
CA391842765
171 R>W No ClinGen
gnomAD
rs1421557643
CA391842782
172 T>S No ClinGen
gnomAD
rs546709838
CA7491966
173 M>T No ClinGen
1000Genomes
ExAC
gnomAD
CA269715877
rs1054115412
174 V>A No ClinGen
Ensembl
rs1207892625
CA391842809
174 V>I No ClinGen
TOPMed
CA391842832
rs1169615866
175 N>S No ClinGen
gnomAD
rs1337678450
CA391842858
177 P>R No ClinGen
gnomAD
rs769604495
COSM470608
CA7491968
177 P>S kidney [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1445891888
CA391842874
179 I>V No ClinGen
gnomAD
rs1301403301
CA391842896
180 S>N No ClinGen
TOPMed
rs1272066935
CA391842942
183 K>E No ClinGen
gnomAD
CA391843005
rs1363184478
185 R>H No ClinGen
gnomAD
rs1363184478
CA391843004
185 R>L No ClinGen
gnomAD
rs143540732
CA7491971
186 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA391843034
rs759196254
187 A>S No ClinGen
ExAC
gnomAD
CA7491973
rs759196254
187 A>T No ClinGen
ExAC
gnomAD
rs1204755856
CA391843060
188 W>* No ClinGen
gnomAD
CA391843079
rs1263352826
189 V>M No ClinGen
gnomAD
CA391843102
rs1274803250
190 Q>* No ClinGen
gnomAD
rs1595449742
CA919539096
193 G>D No ClinGen
Ensembl
rs1391421475
CA391843169
193 G>R No ClinGen
TOPMed
CA391843207
rs1595449753
194 H>L No ClinGen
Ensembl
CA391843196
rs1595449748
194 H>N No ClinGen
Ensembl
rs1041422465
CA269715893
195 T>S No ClinGen
Ensembl
rs1283264764
CA391843362
196 G>E No ClinGen
gnomAD
rs1361431144
CA391843497
200 A>V No ClinGen
gnomAD
rs1223155460
CA391843520
201 A>E No ClinGen
TOPMed
gnomAD
rs1223155460
CA391843522
201 A>V No ClinGen
TOPMed
gnomAD
rs367644899
CA269715992
202 G>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1595449849
CA391843544
202 G>C No ClinGen
Ensembl
rs367644899
CA7491994
202 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7491995
rs776947765
203 T>I No ClinGen
ExAC
gnomAD
CA391843575
rs1233653012
204 S>C No ClinGen
gnomAD
CA391843592
rs1185212593
205 G>R No ClinGen
TOPMed
CA391843609
rs1441712000
206 L>P No ClinGen
TOPMed
CA7491996
rs762417088
207 I>L No ClinGen
ExAC
gnomAD
CA391843660
rs1156858246
210 R>H No ClinGen
TOPMed
gnomAD
rs765913011
CA7491997
212 S>A No ClinGen
ExAC
TOPMed
gnomAD
rs758598040
CA7491999
213 E>A No ClinGen
ExAC
gnomAD
rs1389258083
CA391843725
213 E>D No ClinGen
TOPMed
gnomAD
rs1282730605
CA391843739
214 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs766479102
CA7492000
214 P>S No ClinGen
ExAC
gnomAD
rs1244525760
CA391843760
215 E>* No ClinGen
TOPMed
CA391843796
rs1341556752
216 R>L No ClinGen
TOPMed
rs755813046
CA7492003
217 Y>C No ClinGen
ExAC
gnomAD
CA391843877
rs1244932249
219 L>Q No ClinGen
TOPMed
gnomAD
rs1384399395
CA391843866
219 L>V No ClinGen
gnomAD
CA391843898
rs1264769167
220 A>E No ClinGen
TOPMed
gnomAD
CA391843905
rs1264769167
220 A>V No ClinGen
TOPMed
gnomAD
rs1354233027
CA391843912
221 R>G No ClinGen
TOPMed
gnomAD
rs777632933
CA391843923
221 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA7492004
rs777632933
221 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA391843913
rs1354233027
221 R>W No ClinGen
TOPMed
gnomAD
rs749154650
CA7492005
223 M>T No ClinGen
ExAC
gnomAD
CA7492006
rs372904283
224 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7492007
rs778873563
224 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA7492009
rs569555910
COSM2270436
228 R>C urinary_tract [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA7492010
rs774960957
229 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA269716047
rs981625537
230 C>F No ClinGen
Ensembl
rs1471592303
CA391844152
233 A>D No ClinGen
TOPMed
CA7492011
rs186875136
233 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs768837113
CA7492012
235 H>Y No ClinGen
ExAC
gnomAD
CA7492013
rs777132600
236 G>R No ClinGen
ExAC
gnomAD
rs1464739931
CA391844264
237 V>M No ClinGen
gnomAD
CA391844351
rs1407906941
241 D>Y No ClinGen
gnomAD
rs773894528
CA7492016
242 G>S No ClinGen
ExAC
gnomAD
rs1287341129
CA391844412
244 S>G No ClinGen
TOPMed
rs1295546720
CA391844628
251 L>Q No ClinGen
TOPMed
CA391844688
rs759804092
253 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA7492020
rs759804092
253 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs146892879
CA7492022
256 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA391844776
rs1461982946
256 D>H No ClinGen
gnomAD
rs1254180479
CA391844816
CA391844805
257 G>R No ClinGen
TOPMed
gnomAD
CA391844913
rs1406221003
261 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA269716099
rs201247256
265 M>I No ClinGen
1000Genomes
CA391845310
rs1447811516
276 T>I No ClinGen
gnomAD
rs1374806005
CA391845353
279 R>C No ClinGen
gnomAD
rs775636995
CA7492057
279 R>L No ClinGen
ExAC
gnomAD
rs1291192698
CA391845368
280 E>A No ClinGen
gnomAD
CA391845387
rs1321707987
281 R>L No ClinGen
gnomAD
rs1321707987
CA391845384
281 R>Q No ClinGen
gnomAD
rs867711236
COSM1211091
CA269716194
281 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
CA7492058
rs560905871
282 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1253456640
CA391845431
285 R>W No ClinGen
gnomAD
CA269716201
rs373484451
CA391845454
286 K>N No ClinGen
ESP
rs762706476
CA7492061
288 M>L No ClinGen
ExAC
gnomAD
CA391845497
rs1434124614
289 Y>S No ClinGen
gnomAD
TCGA novel 290 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7492062
rs766307880
292 M>I No ClinGen
ExAC
gnomAD
CA7492063
rs751480830
293 L>V No ClinGen
ExAC
gnomAD
TCGA novel 300 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752327452
CA7492066
301 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs752327452
CA7492067
301 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA391845641
rs1166305288
302 E>G No ClinGen
TOPMed
rs749639486
CA7492069
303 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs757597248
CA7492070
306 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA391845690
rs1454636944
306 A>S No ClinGen
gnomAD
CA269716219
rs757597248
306 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs993563205
CA269716222
307 Q>E No ClinGen
TOPMed
rs1227123354
CA391845714
308 R>C No ClinGen
gnomAD
CA7492071
rs779430196
308 R>H No ClinGen
ExAC
gnomAD
rs1198465863
CA391845725
309 A>D No ClinGen
gnomAD
CA391845721
rs1318995469
309 A>T No ClinGen
gnomAD
rs772076582
COSM1372778
CA7492073
310 V>I Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA7492074
rs150465612
313 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1482857957
CA391845773
313 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs150465612
CA7492075
313 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 314 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 314 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA269716238
rs77491131
320 E>G No ClinGen
Ensembl
CA391845883
rs1272626999
321 G>V No ClinGen
TOPMed
rs1421755663
CA391845900
323 S>G No ClinGen
gnomAD
rs776759495
CA7492077
323 S>T No ClinGen
ExAC
gnomAD
rs1358681313
CA391845923
325 S>G No ClinGen
gnomAD
rs1445959211
CA391845952
327 T>I No ClinGen
gnomAD
CA391845944
rs1595450372
327 T>P No ClinGen
Ensembl
rs1218403357
CA391845972
329 G>D No ClinGen
gnomAD
rs1216110209
CA391845989
330 F>L No ClinGen
TOPMed
CA391846031
rs1315619821
334 G>V No ClinGen
gnomAD
rs762767366
CA7492078
335 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs747062181
CA7492095
338 A>V No ClinGen
ExAC
gnomAD
rs758806990
CA269716347
339 D>E No ClinGen
gnomAD
TCGA novel 339 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7492097
rs781426159
340 G>C No ClinGen
ExAC
gnomAD
CA7492098
rs748330626
341 S>Y No ClinGen
ExAC
gnomAD
rs1323392557
CA391846476
349 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
COSM961421
CA391846481
rs574486119
350 R>* Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA391846487
rs1438281000
350 R>Q No ClinGen
gnomAD
CA391846508
rs1595450838
351 S>T No ClinGen
Ensembl
CA391846555
rs1481479997
353 E>G No ClinGen
gnomAD
TCGA novel 354 Q>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772110668
CA7492102
355 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA391846667
rs1377038982
357 R>P No ClinGen
gnomAD
rs1238851693
CA391846730
360 E>K No ClinGen
gnomAD
TCGA novel 361 E>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775606125
CA7492103
364 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs775606125
CA391846819
364 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA7492104
rs760217128
364 Q>R No ClinGen
ExAC
gnomAD
rs1387794613
CA391846844
365 G>R No ClinGen
TOPMed
rs553718435
CA7492105
367 E>K No ClinGen
1000Genomes
ExAC
gnomAD
rs761372084
CA7492107
368 E>D No ClinGen
ExAC
gnomAD
CA7492106
rs145328827
368 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA391847269
rs755436645
372 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs755436645
CA391847267
372 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs755436645
CA7492131
372 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA391847329
rs1595451257
375 N>T No ClinGen
Ensembl
CA391847350
rs1345755400
376 R>C No ClinGen
TOPMed
gnomAD
CA391847344
rs1345755400
376 R>S No ClinGen
TOPMed
gnomAD
CA7492133
rs752693895
379 Q>R No ClinGen
ExAC
gnomAD
rs1262983833
CA391847510
381 R>L No ClinGen
gnomAD
TCGA novel 381 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA269716455
rs867967198
382 D>E No ClinGen
Ensembl
rs1266290276
CA391847514
382 D>N No ClinGen
TOPMed
gnomAD
CA391847519
rs1266290276
382 D>Y No ClinGen
TOPMed
gnomAD
rs756255009
CA7492134
383 T>A No ClinGen
ExAC
gnomAD
rs919023895
CA269716458
383 T>I No ClinGen
TOPMed
gnomAD
rs1167832017
CA391847596
385 E>K No ClinGen
gnomAD
CA391847642
rs1284980653
386 V>A No ClinGen
TOPMed
CA391847627
rs1466053235
386 V>I No ClinGen
gnomAD
TCGA novel 388 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 389 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA391847736
rs1373552974
390 F>L No ClinGen
gnomAD
TCGA novel 391 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201490754
CA7492136
392 R>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA391847821
rs1472258034
393 H>L No ClinGen
gnomAD
CA391847851
rs1302979139
394 E>K No ClinGen
TOPMed
rs767943853
CA7492171
395 V>M No ClinGen
ExAC
gnomAD
rs1457248710
CA391848119
397 G>R No ClinGen
gnomAD
rs1324079543
CA391848149
398 S>N No ClinGen
gnomAD
rs1447523908
CA391848185
399 S>L No ClinGen
gnomAD
CA7492174
rs764759144
400 L>F No ClinGen
ExAC
gnomAD
rs1230579405
CA391848300
403 V>M No ClinGen
gnomAD
CA391848326
rs757453229
405 D>N No ClinGen
ExAC
gnomAD
CA7492176
rs757453229
405 D>Y No ClinGen
ExAC
gnomAD
CA391848361
rs1376903907
406 H>P No ClinGen
TOPMed
CA7492177
rs765516106
406 H>Q No ClinGen
ExAC
gnomAD
CA391848359
rs1231866883
406 H>Y No ClinGen
TOPMed
gnomAD
CA7492178
rs750682391
408 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs754673558
CA7492179
409 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs754673558
CA391848437
409 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1183489890
CA391848470
410 A>V No ClinGen
gnomAD
CA7492182
rs376720541
411 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7492181
rs376720541
411 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1595451626
CA391848509
412 V>G No ClinGen
Ensembl
rs1316136057
CA391848501
412 V>L No ClinGen
gnomAD
CA391848498
rs1316136057
412 V>M No ClinGen
gnomAD
CA391848588
rs1162534117
415 I>V No ClinGen
TOPMed
gnomAD
CA391848675
rs1170029913
418 G>R No ClinGen
TOPMed
gnomAD
CA7492186
rs778377389
421 T>A No ClinGen
ExAC
gnomAD
CA269716511
rs1007833063
421 T>M No ClinGen
TOPMed
CA7492187
rs745545484
422 P>R No ClinGen
ExAC
gnomAD
rs1379096344
CA391848751
422 P>S No ClinGen
gnomAD
rs375904304
CA391848794
424 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375904304
CA7492188
424 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA391848787
rs1319535306
424 P>S No ClinGen
gnomAD
rs760994275
CA7492190
425 D>G No ClinGen
ExAC
gnomAD
CA7492189
rs775913660
425 D>N No ClinGen
ExAC
gnomAD
CA391848818
rs1211635872
426 G>S No ClinGen
gnomAD
CA7492193
rs761938864
433 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA391849029
rs1478253145
434 P>L No ClinGen
gnomAD
CA391849122
rs1273527132
438 G>D No ClinGen
TOPMed
CA269716525
rs370243619
443 G>C No ClinGen
ESP
TOPMed
gnomAD
CA391849238
rs370243619
443 G>S No ClinGen
ESP
TOPMed
gnomAD
CA391849374
rs756697444
449 D>G No ClinGen
ExAC
gnomAD
CA269716532
rs753794514
449 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA7492202
rs756697444
449 D>V No ClinGen
ExAC
gnomAD
CA7492201
rs753794514
449 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs771734285
CA7492205
452 I>M No ClinGen
ExAC
gnomAD
CA7492204
rs200665977
452 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7492206
rs137962153
453 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs137962153
CA391849477
453 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs747341736
CA7492207
454 I>V No ClinGen
ExAC
CA391849499
rs769168955
455 L>V No ClinGen
ExAC
gnomAD
CA269716541
rs1043317903
456 A>G No ClinGen
TOPMed
rs762417213
CA7492210
458 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA391849621
rs1476213878
459 A>D No ClinGen
TOPMed
rs906024508
CA269716545
459 A>T No ClinGen
TOPMed
TCGA novel 460 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA

No associated diseases with P23677

No regional properties for P23677

Type Name Position InterPro Accession
No domain, repeats, and functional sites for P23677

Functions

Description
EC Number 2.7.1.127 Phosphotransferases with an alcohol group as acceptor
Subcellular Localization
  • Cytoplasm, cytoskeleton
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoskeleton A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
dendritic spine A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity.
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.

7 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
calmodulin binding Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states.
calmodulin-dependent protein kinase activity Calmodulin-dependent catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; and ATP + a protein threonine = ADP + protein threonine phosphate.
inositol hexakisphosphate kinase activity Catalysis of the reaction: ATP + 1D-myo-inositol 1,2,3,4,5,6-hexakisphosphate = ADP + diphospho-1D-myo-inositol-pentakisphosphate. The isomeric configuration of diphospho-1D-myo-inositol-pentakisphosphate (PP-IP5) is unknown.
inositol-1,4,5-trisphosphate 3-kinase activity Catalysis of the reaction: 1D-myo-inositol 1,4,5-trisphosphate + ATP = 1D-myo-inositol 1,3,4,5-tetrakisphosphate + ADP + 2 H(+).
kinase activity Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule.
small GTPase binding Binding to a small monomeric GTPase.

11 GO annotations of biological process

Name Definition
actin cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
cellular response to calcium ion Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium ion stimulus.
dendritic spine maintenance The organization process that preserves a dendritic spine in a stable functional or structural state. A dendritic spine is a specialized protrusion from a neuronal dendrite and is involved in synaptic transmission.
inositol metabolic process The chemical reactions and pathways involving inositol, 1,2,3,4,5,6-cyclohexanehexol, a growth factor for animals and microorganisms.
inositol phosphate biosynthetic process The chemical reactions and pathways resulting in the formation of an inositol phosphate, 1,2,3,4,5,6-cyclohexanehexol, with one or more phosphate groups attached.
phosphatidylinositol phosphate biosynthetic process The chemical reactions and pathways resulting in the formation of phosphatidylinositol phosphate.
phosphorylation The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide.
positive regulation of dendritic spine morphogenesis Any process that increases the rate, frequency, or extent of dendritic spine morphogenesis, the process in which the anatomical structures of a dendritic spine are generated and organized. A dendritic spine is a protrusion from a dendrite and a specialized subcellular compartment involved in synaptic transmission.
regulation of synaptic plasticity A process that modulates synaptic plasticity, the ability of synapses to change as circumstances require. They may alter function, such as increasing or decreasing their sensitivity, or they may increase or decrease in actual numbers.
response to calcium ion Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium ion stimulus.
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.

4 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q96DU7 ITPKC Inositol-trisphosphate 3-kinase C Homo sapiens (Human) PR
Q92551 IP6K1 Inositol hexakisphosphate kinase 1 Homo sapiens (Human) PR
P27987 ITPKB Inositol-trisphosphate 3-kinase B Homo sapiens (Human) PR
Q8R071 Itpka Inositol-trisphosphate 3-kinase A Mus musculus (Mouse) PR
10 20 30 40 50 60
MTLPGGPTGM ARPGGARPCS PGLERAPRRS VGELRLLFEA RCAAVAAAAA AGEPRARGAK
70 80 90 100 110 120
RRGGQVPNGL PRAPPAPVIP QLTVTAEEPD VPPTSPGPPE RERDCLPAAG SSHLQQPRRL
130 140 150 160 170 180
STSSVSSTGS SSLLEDSEDD LLSDSESRSR GNVQLEAGED VGQKNHWQKI RTMVNLPVIS
190 200 210 220 230 240
PFKKRYAWVQ LAGHTGSFKA AGTSGLILKR CSEPERYCLA RLMADALRGC VPAFHGVVER
250 260 270 280 290 300
DGESYLQLQD LLDGFDGPCV LDCKMGVRTY LEEELTKARE RPKLRKDMYK KMLAVDPEAP
310 320 330 340 350 360
TEEEHAQRAV TKPRYMQWRE GISSSTTLGF RIEGIKKADG SCSTDFKTTR SREQVLRVFE
370 380 390 400 410 420
EFVQGDEEVL RRYLNRLQQI RDTLEVSEFF RRHEVIGSSL LFVHDHCHRA GVWLIDFGKT
430 440 450 460
TPLPDGQILD HRRPWEEGNR EDGYLLGLDN LIGILASLAE R