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

18 structures for Q16543

Entry ID Method Resolution Chain Position Source
1US7 X-ray 230 A B 127-378 PDB
2K5B NMR - B 148-276 PDB
2N5X NMR - A 288-378 PDB
2NCA NMR - A 1-126 PDB
2W0G X-ray 188 A A 148-276 PDB
5FWK EM 390 A E 1-378 PDB
5FWL EM 900 A E 1-378 PDB
5FWM EM 800 A E 1-378 PDB
5FWP EM 720 A E 1-378 PDB
5HPE X-ray 227 A A 5-20 PDB
7Z37 EM 367 A DP1 1-378 PDB
7Z38 EM 316 A D 1-378 PDB
7ZR0 EM 340 A C 1-378 PDB
7ZR5 EM 390 A C 1-378 PDB
7ZR6 EM 420 A C 1-378 PDB
8GAE EM 330 A C 1-378 PDB
8GFT EM 380 A C 1-378 PDB
AF-Q16543-F1 Predicted AlphaFoldDB

271 variants for Q16543

Variant ID(s) Position Change Description Diseaes Association Provenance
rs932654084
CA305234828
4 Y>C No ClinGen
Ensembl
rs1478733958
CA404034373
5 S>R No ClinGen
gnomAD
CA9194365
rs527724634
9 H>R No ClinGen
1000Genomes
ExAC
gnomAD
CA404034328
rs1435689555
11 E>D No ClinGen
gnomAD
TCGA novel 17 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9194361
rs754903057
25 T>M No ClinGen
ExAC
gnomAD
CA404034222
rs1369845591
26 A>G No ClinGen
gnomAD
rs779953833
CA9194359
28 L>F No ClinGen
ExAC
gnomAD
rs1229289732
CA404033826
36 R>Q Variant assessed as Somatic; 4.649e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA404033815
rs1599381182
37 V>G No ClinGen
Ensembl
rs753985741
CA9194334
40 M>T No ClinGen
ExAC
gnomAD
rs1384769343
CA404033763
42 Q>R No ClinGen
TOPMed
gnomAD
CA9194333
rs764202607
43 F>L No ClinGen
ExAC
gnomAD
CA9194332
rs756168318
44 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1568354981 46 E>missing Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA404033699
rs1431904640
47 K>E No ClinGen
Ensembl
CA404033663
rs1390241752
49 E>D No ClinGen
gnomAD
CA404033673
rs1429182336
49 E>K No ClinGen
gnomAD
CA404033657
rs1599381154
50 L>R No ClinGen
Ensembl
rs753257006
CA9194331
51 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA404033633
rs1460637682
52 R>K No ClinGen
gnomAD
rs1599381144
CA404033619
53 G>A No ClinGen
Ensembl
rs1172086595
CA404033625
53 G>S No ClinGen
TOPMed
rs201298683
CA9194330
55 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1166738720
CA404033600
55 R>H No ClinGen
gnomAD
CA9194328
rs2231483
56 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA404033594
rs1418455681
56 E>K No ClinGen
gnomAD
rs373591353
CA9194327
57 C>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA305233125
rs901271535
57 C>Y No ClinGen
gnomAD
CA404033570
rs1568354949
58 K>Q No ClinGen
Ensembl
rs1468261970
CA404033564
58 K>T No ClinGen
gnomAD
rs1223982195
CA404033552
59 R>C No ClinGen
gnomAD
rs1041504198
CA305233123
59 R>H No ClinGen
Ensembl
CA9194325
rs776392494
60 K>N No ClinGen
ExAC
gnomAD
rs1009740161
CA305233122
62 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA404033510
rs1389653422
62 A>V No ClinGen
TOPMed
rs892595447
CA305233120
63 E>A No ClinGen
TOPMed
rs370285288
CA9194324
63 E>K No ClinGen
ESP
ExAC
gnomAD
TCGA novel 64 C>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9194323
rs746513596
64 C>G No ClinGen
ExAC
gnomAD
rs1439516669
CA404033412
71 L>M No ClinGen
gnomAD
rs1159792472
CA404033376
74 A>G No ClinGen
gnomAD
rs775571491
CA9194322
74 A>T No ClinGen
ExAC
gnomAD
rs771845881
CA9194321
75 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs771845881
CA404033373
75 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs778530307
CA9194318
78 K>R No ClinGen
ExAC
gnomAD
rs1431614706
CA404033322
79 A>V No ClinGen
gnomAD
TCGA novel 80 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA305233119
rs1001482629
81 L>R No ClinGen
Ensembl
rs770724683
CA9194317
83 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA9194316
rs749556906
86 A>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 87 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs111718868
CA305233116
92 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs150997404
CA9194312
92 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA404033226
rs150997404
92 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA404033219
rs145251489
93 K>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs145251489
CA9194311
93 K>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA404033196
rs1275981403
95 E>K No ClinGen
gnomAD
rs1309955264
CA404033181
96 R>G No ClinGen
gnomAD
CA404033178
rs1302729807
96 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1450372022
CA404033145
98 W>C No ClinGen
TOPMed
CA404033114
rs1387043273
100 Q>H No ClinGen
gnomAD
rs1372142418
CA404033103
101 K>R No ClinGen
gnomAD
rs766695587
CA9194309
102 L>R No ClinGen
ExAC
gnomAD
CA404033058
rs373540380
104 E>D No ClinGen
ESP
ExAC
gnomAD
CA9194307
rs753612399
106 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1599381042
CA404033035
106 R>H No ClinGen
Ensembl
rs1170697492
CA404033011
108 K>E No ClinGen
TOPMed
COSM710219
CA404032975
rs1294120646
110 K>N lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs775088677
CA9194303
110 K>R No ClinGen
ExAC
gnomAD
CA9194302
rs772075527
111 S>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs759428807
CA9194301
111 S>R No ClinGen
ExAC
gnomAD
rs370734241
CA9194299
CA9194300
112 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 112 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1599381014
CA404032932
114 W>G No ClinGen
Ensembl
rs1247226242
CA404032906
116 V>M No ClinGen
gnomAD
rs777979639
CA9194297
118 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs998562132
CA305233109
121 K>R No ClinGen
TOPMed
rs1226071443
CA404032803
124 F>S No ClinGen
TOPMed
rs781093439
CA404032785
125 S>R No ClinGen
ExAC
gnomAD
CA404032775
rs1315741525
126 K>R No ClinGen
gnomAD
CA9194222
rs577768027
128 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1568354611
CA404031925
132 K>Q No ClinGen
Ensembl
rs778842852
CA9194220
134 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1472467098
CA404031872
136 T>K No ClinGen
gnomAD
rs1472467098
COSM1158210
CA404031870
136 T>M pancreas [Cosmic] No ClinGen
cosmic curated
gnomAD
CA305232993
rs988144565
137 E>G No ClinGen
Ensembl
rs757178328
CA9194219
142 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1212076972
CA404031783
143 V>E No ClinGen
gnomAD
rs1212076972
CA404031779
143 V>G No ClinGen
gnomAD
rs143295429
CA9194216
145 E>K No ClinGen
ESP
ExAC
TOPMed
CA9194217
rs143295429
145 E>Q No ClinGen
ESP
ExAC
TOPMed
CA9194214
rs760371359
146 Q>K No ClinGen
ExAC
gnomAD
CA305232986
rs1032402107
148 H>Y No ClinGen
Ensembl
CA9194213
rs753030780
150 T>N No ClinGen
ExAC
TOPMed
gnomAD
CA305232983
rs1023795239
155 Y>H No ClinGen
TOPMed
CA305232981
rs749532522
156 E>G No ClinGen
Ensembl
rs145359780
CA9194209
158 Q>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA404031580
rs145359780
158 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1450765512
CA404031556
160 K>E No ClinGen
gnomAD
rs748457230
CA9194206
CA9194205
162 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1187371522
CA404031450
164 M>I No ClinGen
gnomAD
CA305232944
rs866354313
166 R>C No ClinGen
Ensembl
CA9194185
rs745566999
166 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs773978075
CA9194184
167 R>C No ClinGen
ExAC
gnomAD
rs770538573
CA9194183
167 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA9194182
rs748675716
168 W>S No ClinGen
ExAC
gnomAD
rs777775938
CA9194181
169 D>V No ClinGen
ExAC
gnomAD
rs1226769488
CA404031310
173 K>Q No ClinGen
TOPMed
gnomAD
CA305232931
rs55826704
173 K>R No ClinGen
TOPMed
rs1599380546
CA404031280
174 Y>D No ClinGen
Ensembl
CA9194180
rs755960486
174 Y>S No ClinGen
ExAC
gnomAD
rs201914397
CA9194179
177 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA9194178
rs781175114
178 N>D No ClinGen
ExAC
gnomAD
CA305232904
COSM1200360
rs1025592298
178 N>S large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA9194177
rs754800877
179 V>I No ClinGen
ExAC
gnomAD
rs994076132
CA305232898
180 H>R No ClinGen
TOPMed
rs750412756
CA9194173
184 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9194172
rs765803614
185 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA404031157
rs1195801419
191 V>I No ClinGen
TOPMed
TCGA novel 195 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404031112
rs1490621051
197 L>V No ClinGen
gnomAD
CA9194169
rs764498981
198 E>Q No ClinGen
ExAC
gnomAD
rs761019690
CA9194168
199 V>A No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 200 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9194167
rs375165732
201 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA404031069
rs1437036878
202 K>Q No ClinGen
gnomAD
CA404031051
rs1394172905
204 A>S No ClinGen
gnomAD
CA404031037
rs1599380419
206 M>T No ClinGen
Ensembl
rs1377115855
CA404031032
207 E>K No ClinGen
gnomAD
rs1377115855
CA404031031
207 E>Q No ClinGen
gnomAD
CA404031027
rs1266960631
207 E>V No ClinGen
TOPMed
CA9194139
rs768657748
213 T>A No ClinGen
ExAC
gnomAD
CA9194138
rs147547295
214 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs965254505
CA305232763
215 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1169909459
CA404030943
219 I>T No ClinGen
TOPMed
rs1422559694
CA404030921
223 A>P No ClinGen
gnomAD
rs1183667122
CA404030905
225 S>N No ClinGen
gnomAD
rs1183667122
CA404030904
225 S>T No ClinGen
gnomAD
rs746133397
CA9194135
228 V>M No ClinGen
ExAC
gnomAD
rs1599380386
CA404030879
229 D>A No ClinGen
Ensembl
rs1442847515
CA404030882
229 D>N No ClinGen
TOPMed
CA404030872
rs1265872636
230 P>S No ClinGen
gnomAD
rs757330227
CA9194133
231 R>Q No ClinGen
ExAC
gnomAD
COSM1711807
CA9194134
rs779190160
231 R>W Variant assessed as Somatic; 0.0 impact. skin breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs147241364
CA9194130
235 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9194131
rs147241364
235 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs140745389
CA9194132
235 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA404030728
rs1453478669
242 K>N No ClinGen
gnomAD
CA404030142
rs1599379675
243 T>P No ClinGen
Ensembl
CA404030139
rs1475574319
243 T>R No ClinGen
TOPMed
gnomAD
CA9194109
rs751893796
244 A>D No ClinGen
ExAC
gnomAD
CA9194108
rs765006356
245 D>N No ClinGen
ExAC
gnomAD
COSM990557
CA404030122
rs1269283551
246 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs756931215
CA9194107
246 R>H No ClinGen
ExAC
gnomAD
CA9194106
rs753516808
247 Q>R No ClinGen
ExAC
gnomAD
rs760227229
CA9194104
249 M>T No ClinGen
ExAC
gnomAD
rs1274511350
CA404030083
251 G>V No ClinGen
gnomAD
rs141900325
CA9194101
253 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9194099
rs773411962
CA9194097
254 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA404030064
rs1409808851
254 D>G No ClinGen
gnomAD
CA305231870
rs573570654
254 D>N No ClinGen
TOPMed
gnomAD
rs1331380957
CA404030047
255 E>D No ClinGen
gnomAD
CA404030044
rs1410052865
256 L>V No ClinGen
gnomAD
CA9194096
rs769835901
262 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA9194095
rs748196343
262 R>H No ClinGen
ExAC
gnomAD
CA9194092
rs370952004
264 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA404029946
rs755464378
264 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs780606412
CA9194091
266 R>C No ClinGen
ExAC
gnomAD
rs758820884
CA9194090
266 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1207349631
CA404029901
268 K>R No ClinGen
gnomAD
rs763773157
CA9194088
270 R>C No ClinGen
ExAC
gnomAD
rs1438499333
CA404029880
270 R>L No ClinGen
gnomAD
rs148106370
CA9194087
271 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9194085
rs767381772
272 E>K No ClinGen
ExAC
gnomAD
CA9194084
rs759555262
273 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA305231836
rs1008098745
273 K>R No ClinGen
TOPMed
CA404029826
rs1284471072
275 M>V No ClinGen
TOPMed
gnomAD
rs774253316
CA9194083
277 E>A No ClinGen
ExAC
TCGA novel 277 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1022101507
CA404029774
278 Y>* No ClinGen
TOPMed
gnomAD
rs373932777
CA9194082
279 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9194081
rs762736154
280 E>A No ClinGen
ExAC
gnomAD
rs748199547
CA9194078
281 E>A No ClinGen
ExAC
TOPMed
gnomAD
rs770001005
CA404029721
281 E>K No ClinGen
ExAC
gnomAD
CA9194079
rs770001005
281 E>Q No ClinGen
ExAC
gnomAD
CA404029698
rs1470790409
282 E>K No ClinGen
gnomAD
rs143134175
CA9194076
283 R>C No ClinGen
ESP
ExAC
rs149499190
CA9194075
283 R>H No ClinGen
ESP
ExAC
gnomAD
CA404029587
rs1171197814
286 R>Q No ClinGen
TOPMed
rs369260677
CA9194074
286 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs772569186
CA305231777
288 G>R No ClinGen
ExAC
gnomAD
CA9194072
rs772569186
288 G>S No ClinGen
ExAC
gnomAD
rs777309634
CA404029553
289 P>L No ClinGen
ExAC
gnomAD
rs777309634
CA9194070
289 P>R No ClinGen
ExAC
gnomAD
CA404029550
rs373270944
290 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9194069
rs373270944
290 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9194066
rs754474320
291 G>C No ClinGen
ExAC
gnomAD
rs1208290674
CA404029537
291 G>D No ClinGen
gnomAD
CA9194067
rs754474320
291 G>S No ClinGen
ExAC
gnomAD
rs1345827324
CA404029480
294 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs145608201
CA404029464
295 V>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9194064
RCV000969719
rs145608201
295 V>I No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs750170274
CA9194062
296 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA404029405
rs1454131942
298 Y>C No ClinGen
gnomAD
rs1802887
CA9194060
299 E>K No ClinGen
ExAC
gnomAD
CA9194058
rs768846872
300 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs757882714
CA9194027
308 C>Y No ClinGen
ExAC
gnomAD
rs757086543
CA9194025
310 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs757086543
CA9194024
310 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs759991798
CA305231516
311 V>A No ClinGen
TOPMed
gnomAD
CA404029084
rs759991798
311 V>G No ClinGen
TOPMed
gnomAD
CA404029078
rs1484833208
312 K>E No ClinGen
TOPMed
rs764442187
CA9194022
314 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs764442187
CA404029049
314 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA404029040
rs1226049015
315 Q>E No ClinGen
TOPMed
CA9194021
rs756440557
315 Q>H No ClinGen
ExAC
gnomAD
CA9194019
rs767760630
316 M>K No ClinGen
ExAC
TOPMed
gnomAD
rs752940863
CA9194020
316 M>L No ClinGen
ExAC
gnomAD
rs766742653
COSM474113
CA9194016
320 A>T kidney [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA305231492
rs369699110
320 A>V No ClinGen
ESP
TOPMed
gnomAD
CA305231475
rs146674730
322 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1175944561
CA404028971
322 S>T No ClinGen
gnomAD
rs770114325
CA9194013
326 P>R No ClinGen
ExAC
gnomAD
rs1320956910
CA404028903
327 T>A No ClinGen
gnomAD
CA9194011
rs775113295
327 T>N No ClinGen
ExAC
gnomAD
rs532403111 328 D>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA9193955
rs754320960
328 D>Y No ClinGen
ExAC
gnomAD
rs937318355
CA305230428
329 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA9193953
rs761093540
329 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1045760389
CA305230426
330 K>R No ClinGen
TOPMed
CA9193952
rs751173951
335 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA404027506
rs1283025760
337 I>T No ClinGen
gnomAD
CA404027474
rs1395599379
338 D>E No ClinGen
Ensembl
CA9193950
rs762577907
339 S>C No ClinGen
ExAC
gnomAD
CA404027383
rs1408881550
COSM1480519
343 V>I Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1393647573
CA404027365
344 P>A No ClinGen
gnomAD
rs918777258
CA404027332
345 N>K No ClinGen
TOPMed
CA404027342
rs1462161237
345 N>Y No ClinGen
gnomAD
rs1428412208
CA404027313
346 S>C No ClinGen
gnomAD
rs1268094643
CA404027323
346 S>P No ClinGen
TOPMed
rs768403952
CA9193945
347 K>Q No ClinGen
ExAC
gnomAD
CA9193944
rs565002023
348 A>V No ClinGen
1000Genomes
ExAC
gnomAD
rs775595344
CA9193943
349 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA404027235
rs746058388
350 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA9193941
rs746058388
350 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1197836126
CA404027203
351 A>S No ClinGen
gnomAD
rs1197836126
CA404027207
351 A>T No ClinGen
gnomAD
rs910099011
CA305230349
353 E>K No ClinGen
gnomAD
CA404027146
rs1568353237
354 G>E No ClinGen
Ensembl
rs768705987
CA305230348
354 G>R No ClinGen
TOPMed
rs757312172
CA9193939
356 E>G No ClinGen
ExAC
gnomAD
rs779012581
CA9193940
356 E>K No ClinGen
ExAC
gnomAD
CA9193937
rs543529571
358 G>D No ClinGen
1000Genomes
ExAC
gnomAD
rs749856611
CA9193938
358 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs756445709
CA9193936
359 P>L No ClinGen
ExAC
gnomAD
VAR_022220
rs280528
CA9193935
360 G>E No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA404027115
rs1340610298
360 G>R No ClinGen
Ensembl
CA404027106
rs1599378575
361 D>A No ClinGen
Ensembl
rs1391684586
CA404027110
361 D>N No ClinGen
gnomAD
rs1214056374
CA404027055
366 A>V No ClinGen
TOPMed
rs1241817340
CA404027042
368 P>A No ClinGen
TOPMed
CA305230261
rs971573679
370 T>M No ClinGen
TOPMed
gnomAD
rs542850499
CA9193929
372 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA404026973
rs1408595288
373 E>G No ClinGen
TOPMed
TCGA novel 373 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs764037048
CA9193928
374 K>R No ClinGen
ExAC
CA9193927
rs200352692
375 D>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 376 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 376 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA404026888
rs1599378529
379 V>C No ClinGen
Ensembl

No associated diseases with Q16543

3 regional properties for Q16543

Type Name Position InterPro Accession
domain EF-hand domain 105 - 245 IPR002048
binding_site EF-Hand 1, calcium-binding site 175 - 187 IPR018247-1
binding_site EF-Hand 1, calcium-binding site 223 - 235 IPR018247-2

Functions

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

5 GO annotations of cellular component

Name Definition
chaperone complex A protein complex required for the non-covalent folding or unfolding, maturation, stabilization or assembly or disassembly of macromolecular structures. Usually active during or immediately after completion of translation. Many chaperone complexes contain heat shock proteins.
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.
HSP90-CDC37 chaperone complex A protein kinase chaperone complex required for the proper folding, maturation and stabilization of target proteins (mostly signalling protein kinases, some steroid hormone receptors), usually during or immediately after completion of translation. The highly conserved, phosphorylated CDC37-Ser13 (vertebrates) or cdc37-Ser14 (yeast) is essential for complex assembly and target protein binding. CDC37-Ser13 (Ser14) is phosphorylated by Casein kinase II (CK2), which in turn is a target of CDC37 creating a positive feedback loop. Complex binding also prevents rapid ubiquitin-dependent proteosomal degradation of target proteins.

8 GO annotations of molecular function

Name Definition
chaperone binding Binding to a chaperone protein, a class of proteins that bind to nascent or unfolded polypeptides and ensure correct folding or transport.
heat shock protein binding Binding to a heat shock protein, a protein synthesized or activated in response to heat shock.
Hsp90 protein binding Binding to Hsp90 proteins, any of a group of heat shock proteins around 90kDa in size.
kinase binding Binding to a kinase, any enzyme that catalyzes the transfer of a phosphate group.
protein kinase binding Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
protein kinase regulator activity Modulates the activity of a protein kinase, an enzyme which phosphorylates a protein.
scaffold protein binding Binding to a scaffold protein. Scaffold proteins are crucial regulators of many key signaling pathways. Although not strictly defined in function, they are known to interact and/or bind with multiple members of a signaling pathway, tethering them into complexes.
unfolded protein binding Binding to an unfolded protein.

8 GO annotations of biological process

Name Definition
positive regulation of mitophagy in response to mitochondrial depolarization Any process that activates or increases the frequency, rate or extent of mitophagy in response to mitochondrial depolarization.
post-transcriptional regulation of gene expression Any process that modulates the frequency, rate or extent of gene expression after the production of an RNA transcript.
protein folding The process of assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure.
protein stabilization Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation.
protein targeting The process of targeting specific proteins to particular regions of the cell, typically membrane-bounded subcellular organelles. Usually requires an organelle specific protein sequence motif.
regulation of cyclin-dependent protein serine/threonine kinase activity Any process that modulates the frequency, rate or extent of cyclin-dependent protein serine/threonine kinase activity.
regulation of interferon-gamma-mediated signaling pathway Any process that modulates the rate, frequency or extent of an interferon-gamma-mediated signaling pathway.
regulation of type I interferon-mediated signaling pathway Any process that modulates the rate, frequency or extent of a type I interferon-mediated signaling pathway.

7 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P06101 CDC37 Hsp90 co-chaperone Cdc37 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
Q5EAC6 CDC37 Hsp90 co-chaperone Cdc37 Bos taurus (Bovine) PR
O57476 CDC37 Hsp90 co-chaperone Cdc37 Gallus gallus (Chicken) PR
Q24276 Cdc37 Hsp90 co-chaperone Cdc37 Drosophila melanogaster (Fruit fly) PR
Q61081 Cdc37 Hsp90 co-chaperone Cdc37 Mus musculus (Mouse) PR
Q63692 Cdc37 Hsp90 co-chaperone Cdc37 Rattus norvegicus (Rat) PR
A7YY97 cdc37l1 Hsp90 co-chaperone Cdc37-like 1 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MVDYSVWDHI EVSDDEDETH PNIDTASLFR WRHQARVERM EQFQKEKEEL DRGCRECKRK
70 80 90 100 110 120
VAECQRKLKE LEVAEGGKAE LERLQAEAQQ LRKEERSWEQ KLEEMRKKEK SMPWNVDTLS
130 140 150 160 170 180
KDGFSKSMVN TKPEKTEEDS EEVREQKHKT FVEKYEKQIK HFGMLRRWDD SQKYLSDNVH
190 200 210 220 230 240
LVCEETANYL VIWCIDLEVE EKCALMEQVA HQTIVMQFIL ELAKSLKVDP RACFRQFFTK
250 260 270 280 290 300
IKTADRQYME GFNDELEAFK ERVRGRAKLR IEKAMKEYEE EERKKRLGPG GLDPVEVYES
310 320 330 340 350 360
LPEELQKCFD VKDVQMLQDA ISKMDPTDAK YHMQRCIDSG LWVPNSKASE AKEGEEAGPG
370
DPLLEAVPKT GDEKDVSV