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

1 structures for P27824

Entry ID Method Resolution Chain Position Source
AF-P27824-F1 Predicted AlphaFoldDB

397 variants for P27824

Variant ID(s) Position Change Description Diseaes Association Provenance
rs200510202
CA3598209
2 E>K No ClinGen
ExAC
TOPMed
rs776034798
CA3598210
3 G>A No ExAC
TOPMed
gnomAD
ClinGen
CA362443052
rs1436918966
3 G>R No TOPMed
ClinGen
rs776034798
CA133098244
3 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA362443084
rs1174029586
4 K>N No gnomAD
ClinGen
CA362443078
rs1481345816
4 K>R No gnomAD
ClinGen
rs761316605
CA3598211
5 W>* No ExAC
gnomAD
ClinGen
COSM1066679
CA362443111
rs1454098604
6 L>S endometrium [Cosmic] No ClinGen
cosmic curated
gnomAD
CA362443127
rs1290306845
7 L>P No ClinGen
gnomAD
rs551656982
CA3598212
8 C>F No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA362443141
rs551656982
8 C>S No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA362443139
rs551656982
8 C>Y No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs1323578074
CA362443155
9 M>V No TOPMed
gnomAD
ClinGen
CA3598213
CA3598214
rs750129275
12 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA362443201
rs750129275
12 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1030608231
CA133098319
13 L>F No Ensembl
ClinGen
CA3598216
rs753040389
15 T>A No ExAC
gnomAD
ClinGen
CA3598217
rs756604999
17 I>V No ClinGen
ExAC
TOPMed
CA3598219
COSM2151341
rs753869333
20 A>T Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA362443307
rs1204646574
21 H>R No ClinGen
gnomAD
rs779124132
CA362443313
22 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs779124132
CA3598221
22 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA3598220
rs757304942
22 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs144777925
CA3598222
24 H>Y No ClinGen
ESP
ExAC
gnomAD
rs961708620
CA133098358
25 D>V No TOPMed
gnomAD
ClinGen
TCGA novel 27 D>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1581849658
CA362443397
28 V>A No ClinGen
Ensembl
CA133098359
rs773718862
28 V>L No TOPMed
gnomAD
ClinGen
CA362443390
rs773718862
28 V>M No ClinGen
TOPMed
gnomAD
CA3598223
rs146806845
29 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs980114112
CA133098364
31 I>V No Ensembl
ClinGen
rs768479664
CA3598226
32 E>D No ClinGen
ExAC
gnomAD
CA3598225
rs746759221
32 E>Q No ExAC
gnomAD
ClinGen
CA362443481
rs1366842266
34 D>H No gnomAD
ClinGen
CA3598227
rs148961304
COSM1066681
37 D>N Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ESP
ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
NCI-TCGA
CA362443545
rs1230313556
38 V>A No TOPMed
ClinGen
rs761639685
CA133098400
39 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs769409264
CA3598229
39 I>T No ClinGen
ExAC
gnomAD
rs761639685
CA3598228
39 I>V No ExAC
TOPMed
gnomAD
ClinGen
CA362443645
rs1216565124
44 D>Y No gnomAD
ClinGen
TCGA novel 45 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3598231
rs762646334
48 D>E No ClinGen
ExAC
rs1292746299
CA362443715
48 D>V No gnomAD
ClinGen
TCGA novel 49 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1220343895
CA362443751
50 T>A No gnomAD
ClinGen
CA133098436
rs1057284737
50 T>S No Ensembl
ClinGen
rs1220343895
CA362443748
50 T>S No gnomAD
ClinGen
CA3598233
rs775866282
52 P>L No ExAC
gnomAD
ClinGen
rs918786337
CA133098463
52 P>S No Ensembl
ClinGen
TCGA novel 52 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3598234
rs761034514
53 P>S No ExAC
ClinGen
CA133098482
rs929069704
54 S>L No ClinGen
Ensembl
rs1047432279
CA133098485
55 S>T No Ensembl
ClinGen
rs764524851
CA3598235
56 P>S No ClinGen
ExAC
gnomAD
CA3598249
rs376343417
61 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1206480222
CA362444323
64 V>I No ClinGen
TOPMed
gnomAD
rs1206480222
CA362444318
64 V>L No ClinGen
TOPMed
gnomAD
CA362444336
rs1249521943
65 P>A No ClinGen
gnomAD
CA133098899
rs992851702
65 P>L No ClinGen
gnomAD
CA362444346
rs1388509469
66 T>A No ClinGen
TOPMed
CA3598250
rs773937151
67 G>E No ExAC
ClinGen
rs867506993
CA133098934
68 E>K No ClinGen
Ensembl
rs544838582
CA3598252
72 A>V No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA3598253
rs776837383
73 D>N No ClinGen
ExAC
gnomAD
CA3598254
rs762405151
74 S>C No ExAC
gnomAD
ClinGen
CA362444473
rs1182453105
74 S>P No gnomAD
ClinGen
rs1429746963
CA362444530
77 R>G No gnomAD
ClinGen
CA3598255
rs765797003
78 G>E No ExAC
TOPMed
gnomAD
ClinGen
CA3598258
rs766551548
81 S>A No ClinGen
ExAC
TOPMed
gnomAD
CA362444724
rs1562473876
84 I>V No ClinGen
Ensembl
CA133099674
rs997403805
87 K>N No ClinGen
gnomAD
CA3598271
rs547055719
87 K>R No ClinGen
1000Genomes
ExAC
gnomAD
rs1252347167
CA362444789
88 A>T No ClinGen
TOPMed
rs1453086043
CA362444821
90 K>E No ClinGen
gnomAD
rs1255080613
CA362444867
92 D>G No ClinGen
TOPMed
CA362444855
rs1339766611
92 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No TOPMed
gnomAD
ClinGen
NCI-TCGA
rs763547100
CA3598274
94 D>G No ExAC
gnomAD
ClinGen
CA3598273
rs368902277
94 D>N No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs987279848
CA133099735
95 D>H No ClinGen
TOPMed
rs867331488
CA133099743
98 A>V No ClinGen
Ensembl
rs1224066167
CA362446393
103 K>N No gnomAD
ClinGen
rs763601463
CA3598292
105 E>G No ClinGen
ExAC
gnomAD
CA362446490
rs1450333440
107 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No gnomAD
ClinGen
NCI-TCGA
rs531497541
CA3598293
110 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs774523334
CA3598294
111 E>A No ExAC
gnomAD
ClinGen
rs1581856329
CA362446619
111 E>K No ClinGen
Ensembl
CA362446685
rs1581856354
112 S>L No ClinGen
Ensembl
rs767797862
CA3598296
113 K>N No ClinGen
ExAC
gnomAD
CA362446701
rs1175755473
113 K>Q No ClinGen
gnomAD
CA362446757
rs1425441266
116 G>S No ClinGen
gnomAD
TCGA novel 119 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3598298
rs760882703
123 M>K No ExAC
gnomAD
ClinGen
rs763918161
CA3598299
125 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA362447016
rs1329319100
125 R>W No gnomAD
ClinGen
CA362447067
rs1562477210
127 K>M No ClinGen
Ensembl
CA3598300
rs753609572
128 H>Y No ClinGen
ExAC
gnomAD
TCGA novel 129 H>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1384938731
CA362447150
130 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 132 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1383056902
CA362447241
133 A>T No ClinGen
gnomAD
rs1364804402
CA362447271
133 A>V No ClinGen
TOPMed
rs778647017
CA3598302
134 K>E No ExAC
gnomAD
ClinGen
rs767277435
CA3598303
136 N>S No ClinGen
ExAC
gnomAD
CA3598305
rs79378421
140 L>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA133100724
rs1031288128
140 L>P No TOPMed
gnomAD
ClinGen
CA362447481
rs1031288128
140 L>Q No ClinGen
TOPMed
gnomAD
CA362447500
rs1208660807
141 F>S No ClinGen
gnomAD
rs1013113374
CA133100742
144 K>T No ClinGen
Ensembl
rs1439982711
CA362447691
148 V>F No ClinGen
gnomAD
rs1409462926
CA362448059
153 N>S No TOPMed
ClinGen
rs1420228343
CA362448120
156 N>S No TOPMed
ClinGen
CA3598325
rs377451496
157 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3598326
rs780927363
158 I>L No ExAC
gnomAD
ClinGen
rs889578700
CA133101373
158 I>R No Ensembl
ClinGen
rs1382308411
CA362448300
164 Y>C No ClinGen
gnomAD
CA362448324
rs1319639074
165 V>G No gnomAD
ClinGen
TCGA novel 166 K>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779331457
CA3598329
169 S>C No ExAC
ClinGen
CA3598331
rs772612377
170 K>E No ClinGen
ExAC
gnomAD
CA362448496
rs1324764556
173 E>D No ClinGen
gnomAD
rs775569975
CA3598332
173 E>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
CA3598333
rs747023297
174 L>F No ExAC
gnomAD
ClinGen
CA362448501
rs747023297
174 L>I No ClinGen
ExAC
gnomAD
rs143726426
CA3598334
174 L>P No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs143726426
CA133101414
174 L>R No ESP
ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 177 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1215986273
CA362449624
178 Q>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA3598349
rs758832045
179 F>L No ExAC
gnomAD
ClinGen
rs780479093
CA3598350
180 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA133102323
rs904374755
181 D>E No TOPMed
gnomAD
ClinGen
rs1183586805
CA362449812
184 P>A No ClinGen
gnomAD
rs1040946377
CA133102356
185 Y>F No Ensembl
ClinGen
CA3598354
rs748363222
186 T>M No ClinGen
ExAC
gnomAD
rs1366740689
CA362449986
191 P>T No gnomAD
ClinGen
rs1562480957
CA362450055
193 K>R No ClinGen
Ensembl
CA133102376
rs1031621798
194 C>W No TOPMed
ClinGen
TCGA novel 195 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3598356
rs772909275
197 D>E No ClinGen
ExAC
gnomAD
CA3598357
rs762744899
198 Y>C No ClinGen
ExAC
gnomAD
CA3598358
rs771008892
199 K>E No ExAC
gnomAD
ClinGen
rs1581860511
CA362450262
201 H>R No Ensembl
ClinGen
rs767177938
CA362450392
204 F>L No ExAC
TOPMed
gnomAD
ClinGen
CA3598362
rs752230231
205 R>* No ExAC
gnomAD
ClinGen
rs1315765352
CA362450416
205 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No gnomAD
ClinGen
NCI-TCGA
CA362450446
rs1291386793
206 H>R No ClinGen
TOPMed
rs141861672
CA3598365
207 K>E No ClinGen
ESP
ExAC
gnomAD
rs150270438
CA3598366
207 K>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs780392943
CA3598367
208 N>S No ClinGen
ExAC
gnomAD
CA3598368
rs752100105
210 K>Q No ExAC
TOPMed
gnomAD
ClinGen
rs1450630294
CA362450550
210 K>R No ClinGen
gnomAD
rs755452646
CA362450570
211 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs755452646
COSM268836
CA133102434
211 T>M large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
NCI-TCGA
rs755452646
CA3598369
211 T>R No ExAC
TOPMed
gnomAD
ClinGen
rs781268361
CA3598370
212 G>A No ExAC
gnomAD
ClinGen
CA362450580
rs948199686
212 G>C No TOPMed
gnomAD
ClinGen
rs781268361
CA3598371
212 G>D No ExAC
gnomAD
ClinGen
rs948199686
CA133102444
212 G>S No ClinGen
TOPMed
gnomAD
rs769909544
CA3598372
214 Y>C No ExAC
TOPMed
gnomAD
ClinGen
CA362450655
rs1462873207
215 E>D No gnomAD
ClinGen
TCGA novel 218 H>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA133102528
rs1003507982
218 H>R No Ensembl
ClinGen
CA362450756
rs1398407877
220 K>M No gnomAD
ClinGen
rs777997443
CA362450809
223 D>H No ClinGen
ExAC
gnomAD
CA3598373
rs777997443
223 D>N No ExAC
gnomAD
ClinGen
CA133102538
rs1015102398
224 A>G No ClinGen
Ensembl
rs207466646
CA133102541
225 D>Y No ClinGen
Ensembl
TCGA novel 226 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3598374
rs749461583
226 L>V No ExAC
gnomAD
ClinGen
CA3598375
rs770921171
228 T>I No ClinGen
ExAC
gnomAD
rs1312004454
CA362451072
233 K>E No ClinGen
gnomAD
rs1229358068
CA362451110
234 K>R No gnomAD
ClinGen
CA3598427
rs761267434
244 P>T No ExAC
gnomAD
ClinGen
rs1219967178
CA362453533
245 D>N No ClinGen
TOPMed
rs764469757
CA3598428
249 E>V No ClinGen
ExAC
gnomAD
rs753972476
CA3598429
255 S>Y No ClinGen
ExAC
TOPMed
gnomAD
CA362453739
rs1237790098
258 N>S No ClinGen
gnomAD
CA3598432
rs750712444
259 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA3598431
rs765401038
259 S>R No ExAC
gnomAD
ClinGen
rs758525989
CA3598433
259 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA362453769
rs750712444
259 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA362453829
rs1401160238
262 L>M No TOPMed
ClinGen
CA133112325
rs961067950
266 M>I No ClinGen
TOPMed
CA362453914
rs1171164764
266 M>V No ClinGen
TOPMed
gnomAD
rs965188301
CA133112329
267 T>S No ClinGen
Ensembl
CA362454031
rs1463846811
269 P>L No ClinGen
TOPMed
gnomAD
CA3598434
rs573991716
269 P>S No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 269 P>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1562496714
CA362454097
271 N>S No Ensembl
ClinGen
CA3598435
rs143170114
273 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3598436
rs754945089
274 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs970217783
COSM1543554
CA133112338
274 R>H lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs970217783
CA362454157
274 R>L No TOPMed
gnomAD
ClinGen
CA362454220
rs1339245777
276 I>L No ClinGen
gnomAD
CA133112344
rs935452629
277 E>G No ClinGen
TOPMed
CA3598439
rs769363661
279 P>L No ExAC
TOPMed
gnomAD
ClinGen
rs1342844362
CA362454383
280 E>A No ClinGen
gnomAD
rs1217180939
CA362454393
280 E>D No ClinGen
gnomAD
CA362454382
rs1279368061
280 E>K No ClinGen
gnomAD
CA362454414
rs1257673448
281 D>N No gnomAD
ClinGen
CA3598441
rs748992336
282 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA3598440
rs777237586
282 R>W No ExAC
TOPMed
gnomAD
ClinGen
CA133112361
rs553234403
COSM1066683
285 E>K Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
NCI-TCGA
TOPMed
CA3598445
rs769221257
290 R>I No ExAC
gnomAD
ClinGen
rs770456727
CA133112369
292 K>E No Ensembl
ClinGen
rs1256933838
CA362454796
293 I>L No ClinGen
TOPMed
TCGA novel 293 I>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362454868
rs1377855011
294 P>L No gnomAD
ClinGen
CA133112375
rs901153010
295 D>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA3598449
rs750481212
298 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs763262566
CA3598450
298 A>V No ExAC
gnomAD
ClinGen
CA3598452
rs751380083
299 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs766441669
CA3598451
299 V>L No ExAC
gnomAD
ClinGen
rs780963402
CA3598454
300 K>R No ExAC
gnomAD
ClinGen
rs756081134
CA3598474
305 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 306 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1015978938
CA133113597
307 D>V No ClinGen
Ensembl
rs1438518619
CA362456286
310 A>G No gnomAD
ClinGen
rs778453311
CA3598478
311 K>E No ExAC
gnomAD
ClinGen
TCGA novel 314 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1291175824
CA362456396
315 E>K No TOPMed
ClinGen
rs745553209
CA3598479
316 E>G No ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 317 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA133113619
rs1028893049
318 T>A No ClinGen
Ensembl
TCGA novel 318 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 320 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs140056120
CA3598481
321 E>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA362456603
rs1398453182
322 G>D No ClinGen
TOPMed
rs748457502
CA3598482
327 E>D No ClinGen
ExAC
gnomAD
CA133113629
rs987293060
328 P>A No ClinGen
Ensembl
CA362456832
rs1390890761
331 V>E No ClinGen
gnomAD
CA3598484
rs557592892
331 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1313354040
CA362456870
333 D>V No ClinGen
gnomAD
CA3598485
rs143596594
334 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA133113635
rs779436099
335 D>G No TOPMed
ClinGen
CA133113637
rs764247531
336 A>T No ClinGen
gnomAD
CA362456922
rs1318298193
336 A>V No ClinGen
gnomAD
rs1562504500
CA362456952
338 K>T No Ensembl
ClinGen
rs890647782
CA133113648
341 D>Y No TOPMed
ClinGen
rs551597848
CA133113812
343 D>N No ClinGen
Ensembl
CA3598519
rs761684718
345 D>A No ClinGen
ExAC
gnomAD
rs765151089
CA3598520
345 D>E No ClinGen
ExAC
gnomAD
rs1451533282
CA362457202
345 D>N No TOPMed
ClinGen
CA3598521
rs749914552
348 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs1312272162
CA362457299
350 W>R No gnomAD
ClinGen
CA3598524
rs765982240
351 E>A No ClinGen
ExAC
TOPMed
gnomAD
rs1227565725
CA362457346
352 A>P No TOPMed
gnomAD
ClinGen
rs1274228025
CA362457363
353 P>S No ClinGen
TOPMed
rs754657559
CA3598526
355 I>V No ExAC
gnomAD
ClinGen
rs1581889808
COSM1672179
CA362457531
359 R>K haematopoietic_and_lymphoid_tissue [Cosmic] No Ensembl
ClinGen
cosmic curated
CA3598527
rs778023419
363 A>T No ClinGen
ExAC
gnomAD
rs920342866
CA133113822
364 P>S No ClinGen
TOPMed
gnomAD
CA3598529
rs199941318
368 V>I No ExAC
TOPMed
gnomAD
ClinGen
rs779422274
CA3598530
371 R>Q No ExAC
TOPMed
gnomAD
ClinGen
rs746365417
CA3598531
372 P>T No ClinGen
ExAC
gnomAD
TCGA novel 373 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772209604
CA3598532
373 V>M No ExAC
gnomAD
ClinGen
CA362457896
rs1330434566
374 I>T No ClinGen
TOPMed
CA3598534
rs747252071
377 P>L No ExAC
gnomAD
ClinGen
rs556166734
CA3598536
385 P>L No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA362458311
rs1431514907
385 P>T No gnomAD
ClinGen
rs1307082089
CA362458390
387 M>I No TOPMed
ClinGen
rs1380866746
CA362458354
387 M>V No gnomAD
ClinGen
rs761606840
CA3598537
389 D>V No ClinGen
ExAC
TCGA novel 391 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3598538
rs769462879
391 P>R No ExAC
gnomAD
ClinGen
CA3598541
rs762950869
392 S>I No ClinGen
ExAC
TOPMed
gnomAD
CA3598540
rs762950869
392 S>N No ExAC
TOPMed
gnomAD
ClinGen
CA3598567
rs765641166
399 P>A No ExAC
TOPMed
gnomAD
ClinGen
CA362459787
rs1292417898
402 I>M No gnomAD
ClinGen
rs187644199
CA3598568
402 I>T No ClinGen
1000Genomes
ExAC
CA3598569
rs373500447
403 P>S No ClinGen
ESP
ExAC
gnomAD
rs1224355088
CA362459921
411 L>V No TOPMed
ClinGen
rs766809881
CA3598570
412 E>A No ExAC
gnomAD
ClinGen
CA3598571
rs751992765
413 P>A No ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 415 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs149513016
CA3598572
415 R>I No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 415 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 416 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs370228321
CA133114448
417 T>A No Ensembl
ClinGen
TCGA novel 420 S>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs144513282
CA3598574
422 I>L No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs144513282
CA3598573
422 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs148399587
CA3598577
432 D>Y No ESP
ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 435 F>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760711956 435 F>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs555626485
CA3598579
439 I>V No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs1327542299
CA362460759
442 A>P No ClinGen
gnomAD
CA362460768
rs1327542299
442 A>S No ClinGen
gnomAD
rs774489318
CA3598580
443 D>N No ExAC
gnomAD
ClinGen
CA3598581
rs369795296
444 R>G No ESP
ExAC
gnomAD
ClinGen
rs771656553
CA362460852
444 R>L No ExAC
TOPMed
gnomAD
ClinGen
rs771656553
CA3598582
444 R>Q No ExAC
TOPMed
gnomAD
ClinGen
rs1354013828
CA362460920
446 I>V No ClinGen
TOPMed
gnomAD
CA362460974
rs1175007698
447 V>A No ClinGen
TOPMed
CA362461016
rs1233048370
448 D>G No gnomAD
ClinGen
CA362461117
rs868822397
451 A>S No ClinGen
Ensembl
rs868822397
CA133114468
451 A>T No ClinGen
Ensembl
CA3598583
rs373402263
452 N>S No ExAC
TOPMed
gnomAD
ClinGen
CA362461196
rs1562512599
453 D>G No Ensembl
ClinGen
CA362461298
rs763666522
456 G>D No ClinGen
ExAC
gnomAD
CA3598584
rs760400717
456 G>R No ClinGen
ExAC
gnomAD
rs763666522
CA3598585
456 G>V No ExAC
gnomAD
ClinGen
CA3598588
rs766725772
458 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA3598589
rs780711642
459 K>R No ExAC
TOPMed
gnomAD
ClinGen
rs146501349
CA3598591
460 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs756411854
CA3598593
462 D>G No ExAC
gnomAD
ClinGen
CA3598595
rs749509239
463 G>E No ExAC
gnomAD
ClinGen
rs757188323
CA3598596
464 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs980024048
CA133114496
466 E>K No ClinGen
TOPMed
rs1189288785
CA362462089
467 P>S No ClinGen
TOPMed
CA3598621
rs200863515
469 V>F No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs200863515
CA3598620
469 V>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1216727865
CA362462134
470 V>L No ClinGen
TOPMed
rs1251891791
CA362462150
CA362462146
471 G>R No TOPMed
gnomAD
ClinGen
rs1251891791
CA362462144
471 G>W No TOPMed
gnomAD
ClinGen
TCGA novel 473 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362462225
rs1439762260
473 M>V No gnomAD
ClinGen
TCGA novel 480 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 480 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 480 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3598625
rs772471618
481 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1447603878
CA362463376
484 W>C No gnomAD
ClinGen
rs1581897606
CA362463395
485 V>G No Ensembl
ClinGen
CA3598628
rs374190394
485 V>I No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA362463387
rs374190394
485 V>L No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1333848216
CA362463422
487 Y>C No TOPMed
gnomAD
ClinGen
CA362463444
rs1265768030
488 I>V No ClinGen
gnomAD
CA133114734
rs1045386501
495 V>A No TOPMed
ClinGen
TCGA novel 495 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765315948
CA362463767
498 V>F No ExAC
TOPMed
gnomAD
ClinGen
CA3598632
rs765315948
498 V>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 499 I>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362463805
rs1179911015
500 L>F No ClinGen
gnomAD
rs1253316991
CA362463807
500 L>P No gnomAD
ClinGen
rs1181681807
CA362463857
503 C>R No ClinGen
gnomAD
CA3598633
rs750641770
503 C>Y No ExAC
gnomAD
ClinGen
rs758190011
CA3598634
504 S>C No ExAC
gnomAD
ClinGen
TCGA novel 507 K>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA133115047
rs992257090
COSM1066684
508 Q>H endometrium [Cosmic] No TOPMed
gnomAD
ClinGen
cosmic curated
CA3598657
rs773343126
509 T>I No ClinGen
ExAC
gnomAD
CA3598659
rs367668742
510 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs367668742
CA3598658
510 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA362464251
rs1286008358
511 G>D No TOPMed
ClinGen
CA3598660
rs751313954
512 M>I No ExAC
gnomAD
ClinGen
CA362464272
rs1241484135
512 M>T No TOPMed
ClinGen
rs754912290
CA3598661
513 E>D No ExAC
gnomAD
ClinGen
rs1356395183
CA362464333
516 K>* No ClinGen
TOPMed
rs1282791849
CA362464401
520 P>A No ClinGen
TOPMed
TCGA novel 520 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3598663
rs371798319
522 P>L No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs559928822
CA3598665
524 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs748945692
CA362464531
525 K>N No ExAC
TOPMed
gnomAD
ClinGen
CA362464557
rs1188578368
527 E>K No TOPMed
gnomAD
ClinGen
rs1176825225
CA362464635
530 E>G No gnomAD
ClinGen
rs756889602
CA3598669
531 K>M No ExAC
gnomAD
ClinGen
rs747313211
CA3598671
537 K>R No ClinGen
ExAC
TOPMed
rs75423033
CA3598673
540 E>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs75423033
CA133115083
540 E>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA3598674
rs777341153
542 E>Q No ExAC
gnomAD
ClinGen
TCGA novel 543 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776143295
CA133115088
544 G>E No Ensembl
ClinGen
rs1286758264
CA362464918
545 E>K No ClinGen
gnomAD
rs146720093
CA3598676
546 E>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ESP
ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA3598675
rs143348712
546 E>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1562517599
CA362464927
546 E>Q No ClinGen
Ensembl
CA3598677
rs773293232
548 L>F No ExAC
gnomAD
ClinGen
CA362464942
rs1232802393
548 L>R No ClinGen
gnomAD
CA133115804
rs1022633432
549 E>V No TOPMed
gnomAD
ClinGen
CA133115811
rs111809764
551 K>* No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA3598701
rs111809764
551 K>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3598702
rs770986913
552 Q>H No ExAC
gnomAD
ClinGen
CA362465899
rs1471097383
553 K>R No gnomAD
ClinGen
CA3598703
rs774623024
554 S>N No ClinGen
ExAC
gnomAD
rs771905020
CA362466139
558 E>D No ExAC
gnomAD
ClinGen
rs759725745
CA3598704
558 E>K No ClinGen
ExAC
gnomAD
rs1391758354
CA362466216
560 G>D No gnomAD
ClinGen
rs200395157
CA3598706
560 G>S No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA3598707
rs760563367
562 T>I No ClinGen
ExAC
gnomAD
rs1331388035
CA362466349
564 S>I No gnomAD
ClinGen
CA362466407
rs1400362809
566 E>Q No ClinGen
TOPMed
rs1474263495
CA362466435
567 E>A No TOPMed
ClinGen
CA133115832
rs1031643847
567 E>K No TOPMed
gnomAD
ClinGen
CA362466463
rs1278285093
568 E>K No gnomAD
ClinGen
CA3598709
rs764030651
571 K>R No ExAC
gnomAD
ClinGen
CA362466645
rs1299836705
574 A>T No gnomAD
ClinGen
CA362467669
rs1485217155
576 E>D No gnomAD
ClinGen
rs1193544423
CA362467671
577 D>N No ClinGen
gnomAD
CA362467773
rs1243418716
582 R>I No ClinGen
gnomAD
CA362467777
rs761816122
582 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs928704900
CA133116618
583 S>* No ClinGen
Ensembl
rs772663643
CA133116622
584 P>L No ClinGen
Ensembl
TCGA novel 585 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362467829
rs1390131983
587 R>G No ClinGen
gnomAD
rs1176053647
CA362467858
589 P>T No gnomAD
ClinGen
CA362467870
rs1374085607
590 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1414545674
CA362467873
590 R>Q No gnomAD
ClinGen
CA133116629
rs972796544
593 E>S No ClinGen
Ensembl

No associated diseases with P27824

14 regional properties for P27824

Type Name Position InterPro Accession
repeat HAT (Half-A-TPR) repeat 56 - 88 IPR003107-1
repeat HAT (Half-A-TPR) repeat 90 - 122 IPR003107-2
repeat HAT (Half-A-TPR) repeat 124 - 156 IPR003107-3
repeat HAT (Half-A-TPR) repeat 158 - 189 IPR003107-4
repeat HAT (Half-A-TPR) repeat 191 - 222 IPR003107-5
repeat HAT (Half-A-TPR) repeat 224 - 259 IPR003107-6
repeat HAT (Half-A-TPR) repeat 261 - 295 IPR003107-7
repeat HAT (Half-A-TPR) repeat 339 - 373 IPR003107-8
repeat HAT (Half-A-TPR) repeat 383 - 419 IPR003107-9
repeat HAT (Half-A-TPR) repeat 421 - 452 IPR003107-10
repeat HAT (Half-A-TPR) repeat 454 - 486 IPR003107-11
repeat HAT (Half-A-TPR) repeat 488 - 522 IPR003107-12
repeat HAT (Half-A-TPR) repeat 524 - 555 IPR003107-13
repeat HAT (Half-A-TPR) repeat 567 - 605 IPR003107-14

Functions

Description
EC Number
Subcellular Localization
  • Endoplasmic reticulum membrane ; Single-pass type I membrane protein
  • Mitochondrion membrane ; Single-pass type I membrane protein
  • Melanosome membrane ; Single-pass type I membrane protein
  • Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:12643545, PubMed:17081065)
  • The palmitoylated form preferentially localizes to the perinuclear rough ER (PubMed:22314232)
  • Localizes to endoplasmic reticulum mitochondria-associated membrane (MAMs) that connect the endoplasmic reticulum and the mitochondria (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

20 GO annotations of cellular component

Name Definition
axon The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter.
dendrite cytoplasm All of the contents of a dendrite, excluding the surrounding plasma membrane.
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.
endoplasmic reticulum The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
endoplasmic reticulum lumen The volume enclosed by the membranes of the endoplasmic reticulum.
endoplasmic reticulum membrane The lipid bilayer surrounding the endoplasmic reticulum.
endoplasmic reticulum quality control compartment A subcompartment of the endoplasmic reticulum in which proteins with improper or incorrect folding accumulate. Enzymes in this compartment direct proteins with major folding problems to translocation to the cytosol and degradation, and proteins with minor folding problems to the ER, to interact with chaperon proteins.
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.
glutamatergic synapse A synapse that uses glutamate as a neurotransmitter.
integral component of lumenal side of endoplasmic reticulum membrane The component of the endoplasmic reticulum membrane consisting of the gene products that penetrate only the lumenal side of the membrane.
integral component of postsynaptic membrane The component of the postsynaptic membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
integral component of presynaptic active zone membrane The component of the presynaptic active zone membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
melanosome A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
mitochondria-associated endoplasmic reticulum membrane A zone of apposition between endoplasmic-reticulum and mitochondrial membranes, structured by bridging complexes. These contact sites are thought to facilitate inter-organelle calcium and phospholipid exchange.
neuronal cell body The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.
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.
ribosome An intracellular organelle, about 200 A in diameter, consisting of RNA and protein. It is the site of protein biosynthesis resulting from translation of messenger RNA (mRNA). It consists of two subunits, one large and one small, each containing only protein and RNA. Both the ribosome and its subunits are characterized by their sedimentation coefficients, expressed in Svedberg units (symbol: S). Hence, the prokaryotic ribosome (70S) comprises a large (50S) subunit and a small (30S) subunit, while the eukaryotic ribosome (80S) comprises a large (60S) subunit and a small (40S) subunit. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site). Ribosomes from prokaryotes, eukaryotes, mitochondria, and chloroplasts have characteristically distinct ribosomal proteins.
rough endoplasmic reticulum The rough (or granular) endoplasmic reticulum (ER) has ribosomes adhering to the outer surface; the ribosomes are the site of translation of the mRNA for those proteins which are either to be retained within the cisternae (ER-resident proteins), the proteins of the lysosomes, or the proteins destined for export from the cell. Glycoproteins undergo their initial glycosylation within the cisternae.
smooth endoplasmic reticulum The smooth endoplasmic reticulum (smooth ER or SER) has no ribosomes attached to it. The smooth ER is the recipient of the proteins synthesized in the rough ER. Those proteins to be exported are passed to the Golgi complex, the resident proteins are returned to the rough ER and the lysosomal proteins after phosphorylation of their mannose residues are passed to the lysosomes. Glycosylation of the glycoproteins also continues. The smooth ER is the site of synthesis of lipids, including the phospholipids. The membranes of the smooth ER also contain enzymes that catalyze a series of reactions to detoxify both lipid-soluble drugs and harmful products of metabolism. Large quantities of certain compounds such as phenobarbital cause an increase in the amount of the smooth ER.

6 GO annotations of molecular function

Name Definition
apolipoprotein binding Binding to an apolipoprotein, the protein component of a lipoprotein complex.
calcium ion binding Binding to a calcium ion (Ca2+).
carbohydrate binding Binding to a carbohydrate, which includes monosaccharides, oligosaccharides and polysaccharides as well as substances derived from monosaccharides by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom. Cyclitols are generally not regarded as carbohydrates.
ionotropic glutamate receptor binding Binding to an ionotropic glutamate receptor. Ionotropic glutamate receptors bind glutamate and exert an effect through the regulation of ion channels.
RNA binding Binding to an RNA molecule or a portion thereof.
unfolded protein binding Binding to an unfolded protein.

8 GO annotations of biological process

Name Definition
aging A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700).
clathrin-dependent endocytosis An endocytosis process that begins when material is taken up into clathrin-coated pits, which then pinch off to form clathrin-coated endocytic vesicles.
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 folding in endoplasmic reticulum A protein folding process that takes place in the endoplasmic reticulum (ER). Secreted, plasma membrane and organelle proteins are folded in the ER, assisted by chaperones and foldases (protein disulphide isomerases), and additional factors required for optimal folding (ATP, Ca2+ and an oxidizing environment to allow disulfide bond formation).
protein secretion The controlled release of proteins from a cell.
synaptic vesicle endocytosis A vesicle-mediated transport process, in which the synaptic vesicle membrane constituents are retrieved from the presynaptic membrane on the axon terminal after neurotransmitter secretion by exocytosis. Synaptic vesicle endocytosis can occur via clathrin-dependent and clathrin-independent mechanisms.
ubiquitin-dependent ERAD pathway The series of steps necessary to target endoplasmic reticulum (ER)-resident proteins for degradation by the cytoplasmic proteasome. Begins with recognition of the ER-resident protein, includes retrotranslocation (dislocation) of the protein from the ER to the cytosol, protein ubiquitination necessary for correct substrate transfer, transport of the protein to the proteasome, and ends with degradation of the protein by the cytoplasmic proteasome.
viral protein processing Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a viral protein.

4 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
O14967 CLGN Calmegin Homo sapiens (Human) PR
Q96L12 CALR3 Calreticulin-3 Homo sapiens (Human) PR
P27797 CALR Calreticulin Homo sapiens (Human) PR
P52194 Clgn Calmegin Mus musculus (Mouse) PR
10 20 30 40 50 60
MEGKWLLCML LVLGTAIVEA HDGHDDDVID IEDDLDDVIE EVEDSKPDTT APPSSPKVTY
70 80 90 100 110 120
KAPVPTGEVY FADSFDRGTL SGWILSKAKK DDTDDEIAKY DGKWEVEEMK ESKLPGDKGL
130 140 150 160 170 180
VLMSRAKHHA ISAKLNKPFL FDTKPLIVQY EVNFQNGIEC GGAYVKLLSK TPELNLDQFH
190 200 210 220 230 240
DKTPYTIMFG PDKCGEDYKL HFIFRHKNPK TGIYEEKHAK RPDADLKTYF TDKKTHLYTL
250 260 270 280 290 300
ILNPDNSFEI LVDQSVVNSG NLLNDMTPPV NPSREIEDPE DRKPEDWDER PKIPDPEAVK
310 320 330 340 350 360
PDDWDEDAPA KIPDEEATKP EGWLDDEPEY VPDPDAEKPE DWDEDMDGEW EAPQIANPRC
370 380 390 400 410 420
ESAPGCGVWQ RPVIDNPNYK GKWKPPMIDN PSYQGIWKPR KIPNPDFFED LEPFRMTPFS
430 440 450 460 470 480
AIGLELWSMT SDIFFDNFII CADRRIVDDW ANDGWGLKKA ADGAAEPGVV GQMIEAAEER
490 500 510 520 530 540
PWLWVVYILT VALPVFLVIL FCCSGKKQTS GMEYKKTDAP QPDVKEEEEE KEEEKDKGDE
550 560 570 580 590
EEEGEEKLEE KQKSDAEEDG GTVSQEEEDR KPKAEEDEIL NRSPRNRKPR RE