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

19 structures for Q14457

Entry ID Method Resolution Chain Position Source
2P1L X-ray 250 A B/D/F/H 107-135 PDB
2PON NMR - A 106-128 PDB
3DVU X-ray 250 A C/D 105-130 PDB
4DDP X-ray 155 A A 241-450 PDB
4MI8 X-ray 210 A C/D 107-130 PDB
5EFM X-ray 195 A A 141-171 PDB
5HHE X-ray 146 A A/D 175-265 PDB
5VAU X-ray 175 A E/F/G/H 105-130 PDB
5VAX X-ray 200 A E/F/G/H 105-130 PDB
5VAY X-ray 180 A E/F/G/H 105-130 PDB
6DCN X-ray 244 A C/D 105-130 PDB
6DCO X-ray 220 A C/D 105-130 PDB
6HOI X-ray 114 A F/G 93-102 PDB
6HOJ X-ray 151 A A/B/C 93-105 PDB
6HOK X-ray 161 A A 93-105 PDB
7BL1 EM 980 A EEE 1-450 PDB
8SOR EM 396 A D 1-450 PDB
8SRQ EM 620 A Z 149-449 PDB
AF-Q14457-F1 Predicted AlphaFoldDB

289 variants for Q14457

Variant ID(s) Position Change Description Diseaes Association Provenance
rs917605786
CA290803668
3 G>R No ClinGen
Ensembl
CA8585504
rs768116884
6 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA399687788
rs1329783476
8 N>D No ClinGen
TOPMed
rs774450039
CA8585502
9 N>S No ClinGen
ExAC
gnomAD
CA290803661
rs992453187
10 S>N No ClinGen
Ensembl
rs1445837343
CA399687757
12 M>T No ClinGen
TOPMed
rs1326640431
CA399687751
13 Q>E No ClinGen
gnomAD
rs1326640431
CA399687752
13 Q>K No ClinGen
gnomAD
CA8585501
rs768622632
14 V>E No ClinGen
ExAC
gnomAD
CA8585500
rs369307603
15 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA290803654
rs1025554370
17 V>M No ClinGen
Ensembl
rs931035758
CA290803648
21 C>Y No ClinGen
TOPMed
CA8585498
rs144217377
23 Q>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA399687651
rs1251878508
28 D>N No ClinGen
gnomAD
rs777590770
CA8585496
29 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA290803637
rs975479453
30 S>N No ClinGen
TOPMed
TCGA novel 32 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 34 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758279127
CA8585495
34 L>V No ClinGen
ExAC
gnomAD
rs748062728
CA8585494
36 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1215526319
CA399687591
37 V>I No ClinGen
gnomAD
CA399687550
rs1288814183
43 T>P No ClinGen
gnomAD
rs754436466
CA8585492
44 A>P No ClinGen
ExAC
gnomAD
rs768681704
CA8585475
COSM1750058
45 P>A urinary_tract [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs924343187
CA290802207
48 T>I No ClinGen
gnomAD
rs1375392201
CA399687509
48 T>P No ClinGen
TOPMed
CA399687483
rs1202752581
52 A>T No ClinGen
TOPMed
gnomAD
CA8585474
rs748726984
52 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA8585468
rs562188841
59 E>D No ClinGen
1000Genomes
CA8585470
rs781641199
59 E>K No ClinGen
ExAC
gnomAD
CA8585467
rs757548540
60 E>K No ClinGen
ExAC
gnomAD
CA399687420
rs1321784340
61 E>G No ClinGen
TOPMed
rs947007000
CA290802169
62 T>I No ClinGen
TOPMed
gnomAD
rs947007000
CA399687412
62 T>N No ClinGen
TOPMed
gnomAD
rs113316728
CA290802167
65 G>* No ClinGen
gnomAD
CA8585465
rs764475983
65 G>E No ClinGen
ExAC
gnomAD
rs113316728
CA399687396
65 G>R No ClinGen
gnomAD
CA399687393
rs1459005470
66 E>K No ClinGen
TOPMed
rs374912252
CA8585452
68 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA290801759
rs199562786
69 F>L No ClinGen
Ensembl
CA8585451
rs780986555
70 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA399687347
rs1259902790
71 E>K No ClinGen
gnomAD
rs201863805
CA8585450
74 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8585449
rs200813134
74 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs199603878
CA8585448
75 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1300700992
CA399687319
75 Q>R No ClinGen
gnomAD
CA399687302
rs1331331519
78 V>I No ClinGen
gnomAD
rs753203583
CA8585446
79 S>F No ClinGen
ExAC
gnomAD
rs765239824
CA8585445
COSM1302861
80 R>C Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs759611322
CA8585444
80 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs759611322
CA399687288
80 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA290801740
rs768750881
81 R>K No ClinGen
Ensembl
rs1276194878
CA399687255
85 P>L No ClinGen
TOPMed
TCGA novel 85 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1276194878
CA399687256
85 P>R No ClinGen
TOPMed
TCGA novel 86 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8585426
rs755530032
87 R>S No ClinGen
ExAC
gnomAD
rs1209397352
CA399687222
88 M>I No ClinGen
gnomAD
CA290801525
rs930522329
89 M>V No ClinGen
TOPMed
rs1442902913
CA399687202
91 T>I No ClinGen
gnomAD
rs766512460
CA8585424
92 E>G No ClinGen
ExAC
rs756226768
CA8585423
93 S>G No ClinGen
ExAC
gnomAD
CA290801519
rs974545042
94 A>T No ClinGen
TOPMed
rs1278364162
CA399687185
94 A>V No ClinGen
gnomAD
rs1278672887
CA399687164
97 F>V No ClinGen
TOPMed
rs1293027246
CA399687154
98 T>I No ClinGen
gnomAD
rs375740758
CA290801515
100 I>T No ClinGen
ESP
gnomAD
CA290801512
rs750853517
101 G>R No ClinGen
Ensembl
TCGA novel 102 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
VAR_010384 103 A>V No UniProt
rs762836696
CA8585419
107 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1172310777
CA399687096
108 T>A No ClinGen
gnomAD
TCGA novel 111 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1567672371
CA399687065
112 L>I No ClinGen
Ensembl
rs765243264
CA8585417
112 L>R No ClinGen
ExAC
TOPMed
gnomAD
rs80236238
CA290801508
113 S>R No ClinGen
Ensembl
rs1474337210
CA399687053
114 R>* No ClinGen
gnomAD
rs759566966
CA8585416
114 R>Q Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA290801506
rs912635174
115 R>K No ClinGen
Ensembl
rs757512791
CA8585385
118 V>I No ClinGen
ExAC
gnomAD
CA399687006
rs1457782185
120 G>E No ClinGen
TOPMed
CA399686970
rs1324544345
125 I>T No ClinGen
TOPMed
rs778788915
CA8585382
125 I>V No ClinGen
ExAC
gnomAD
CA8585381
rs754804701
127 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs753640543
CA8585380
128 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs753640543
CA290801442
128 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA290801436
rs900405651
130 T>P No ClinGen
Ensembl
CA8585379
rs766320356
131 D>N No ClinGen
ExAC
gnomAD
rs575137307
CA8585378
131 D>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1216331213
CA399686918
133 D>E No ClinGen
gnomAD
CA8585377
rs749913352
136 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA399686901
rs749913352
136 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA399686862
rs1288698458
141 T>R No ClinGen
gnomAD
CA290801432
rs371577008
144 L>F No ClinGen
ExAC
gnomAD
rs371577008
CA8585376
144 L>V No ClinGen
ExAC
gnomAD
CA8585375
rs377301305
148 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1302049991
CA399686805
150 T>A No ClinGen
gnomAD
rs773982021
CA8585374
150 T>I No ClinGen
ExAC
gnomAD
CA8585373
rs768365766
152 L>V No ClinGen
ExAC
gnomAD
CA399686784
rs1597936497
153 N>S No ClinGen
Ensembl
CA8585371
rs775765007
154 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1361123931
CA399686771
155 T>S No ClinGen
TOPMed
gnomAD
rs770286959
CA8585370
156 E>V No ClinGen
ExAC
TOPMed
gnomAD
rs1567672063
CA399686760
157 N>D No ClinGen
Ensembl
CA290801412
rs1038870989
157 N>T No ClinGen
TOPMed
gnomAD
rs746392687
CA399686746
159 C>G No ClinGen
ExAC
TOPMed
gnomAD
rs746392687
CA8585369
159 C>R No ClinGen
ExAC
TOPMed
gnomAD
CA399686740
rs1376614831
160 Q>* No ClinGen
gnomAD
rs781350341
CA8585368
163 K>T No ClinGen
ExAC
gnomAD
rs147205679
CA8585351
164 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8585350
rs367567072
164 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM1135937
rs1423754164
CA399686688
165 C>F kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs143622099
CA8585349
166 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs760026747
CA8585348
168 I>L No ClinGen
ExAC
gnomAD
CA399686658
rs777260991
170 E>* No ClinGen
ExAC
TOPMed
gnomAD
rs777260991
CA8585347
170 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA399686654
rs1170668763
170 E>V No ClinGen
TOPMed
rs747051390
CA8585345
CA399686636
172 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA399686640
rs1199550012
172 M>T No ClinGen
gnomAD
rs1242264281
CA399686632
173 N>S No ClinGen
gnomAD
rs773451114
CA8585344
173 N>Y No ClinGen
ExAC
gnomAD
CA8585342
rs748326580
174 E>D No ClinGen
ExAC
gnomAD
CA399686593
rs1432436860
178 E>G No ClinGen
gnomAD
CA8585341
rs779843943
182 M>I No ClinGen
ExAC
gnomAD
rs1465865643
CA399686547
184 L>P No ClinGen
TOPMed
gnomAD
rs1465865643
CA399686548
184 L>Q No ClinGen
TOPMed
gnomAD
rs1362892613
CA399686537
186 E>K No ClinGen
gnomAD
CA290801335
rs913633076
191 E>D No ClinGen
Ensembl
CA399686494
rs1369571411
192 E>G No ClinGen
gnomAD
CA8585339
rs745730336
194 L>P No ClinGen
ExAC
gnomAD
CA8585338
rs781077880
197 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA8585337
rs757232707
198 L>P No ClinGen
ExAC
gnomAD
TCGA novel 199 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8585335
rs780754769
201 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA399686430
rs1363794106
202 E>K No ClinGen
TOPMed
rs758000771
CA8585334
205 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs141389235
CA8585332
205 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8585333
rs141389235
205 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8585331
rs759812640
207 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA399686391
rs1351420082
208 V>M No ClinGen
TOPMed
gnomAD
CA8585330
rs777173146
211 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1446788579
CA399686362
212 L>F No ClinGen
TOPMed
gnomAD
rs1446788579
CA399686363
212 L>V No ClinGen
TOPMed
gnomAD
rs201722661
CA8585328
213 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201722661
CA8585327
213 E>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1385853764
CA399686342
215 V>F No ClinGen
gnomAD
rs1597935859
CA399686339
215 V>G No ClinGen
Ensembl
TCGA novel 218 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772060984
CA8585326
219 A>T No ClinGen
ExAC
gnomAD
rs138937709
CA8585325
220 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA399686311
rs138937709
220 E>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA290801277
rs376420962
223 D>G No ClinGen
ESP
gnomAD
rs1380163595
CA399686284
224 Q>E No ClinGen
gnomAD
rs878915430
CA290801274
225 E>K No ClinGen
Ensembl
rs1260797047
CA399686260
227 A>S No ClinGen
gnomAD
CA399686257
rs1175194304
227 A>V No ClinGen
TOPMed
CA399686255
rs1490494506
228 Q>* No ClinGen
gnomAD
rs1399660521
CA399686252
228 Q>R No ClinGen
TOPMed
CA8585300
rs770725412
230 Q>R No ClinGen
ExAC
gnomAD
rs972136460
CA290800680
231 R>K No ClinGen
TOPMed
gnomAD
TCGA novel 232 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA399685637
rs1284762791
232 E>K No ClinGen
gnomAD
CA399685620
rs1340354386
233 Y>N No ClinGen
gnomAD
CA8585299
rs746860359
234 S>G No ClinGen
ExAC
gnomAD
rs879030764
CA290800676
235 E>D No ClinGen
Ensembl
TCGA novel 238 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs995636976
CA290800673
238 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA8585298
rs777562790
239 Q>P No ClinGen
ExAC
gnomAD
rs1333592968
CA399685493
240 Q>H No ClinGen
gnomAD
rs942107521
CA290800669
243 L>P No ClinGen
Ensembl
rs772083921
CA8585297
244 D>N No ClinGen
ExAC
gnomAD
CA399685409
rs1225679982
245 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA8585296
rs148197780
248 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA399685353
rs1567670433
249 S>I No ClinGen
Ensembl
CA399685348
rs1168859530
249 S>R No ClinGen
gnomAD
rs909330651
CA290800663
254 M>T No ClinGen
Ensembl
CA8585294
rs143018406
255 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8585295
rs143018406
255 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371551932
CA8585293
255 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA399685264
rs143018406
255 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1007136248
CA290800654
256 Y>H No ClinGen
TOPMed
gnomAD
CA290800649
rs34128114
258 Q>H No ClinGen
TOPMed
CA399685245
rs1344038417
258 Q>P No ClinGen
Ensembl
rs1030558715
CA290800646
259 T>M No ClinGen
TOPMed
gnomAD
CA399685218
rs1192460073
262 D>E No ClinGen
TOPMed
rs1051729710
CA290800641
262 D>H No ClinGen
TOPMed
gnomAD
CA8585290
rs750841748
268 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs370523548
CA290800636
273 T>A No ClinGen
Ensembl
CA399685074
rs1367447764
281 Q>E No ClinGen
gnomAD
TCGA novel 283 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs768754246
CA399685052
284 T>A No ClinGen
ExAC
gnomAD
rs768754246
CA8585256
284 T>S No ClinGen
ExAC
gnomAD
CA8585255
rs748786575
285 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA399685039
rs1431101616
286 N>S No ClinGen
gnomAD
rs1423960488
CA399685001
291 G>V No ClinGen
gnomAD
rs775164058
CA8585254
292 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs769533035
CA8585253
292 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs745537306
CA8585251
295 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs1262634394
CA399684967
297 P>L No ClinGen
gnomAD
CA8585248
rs747398485
298 V>A No ClinGen
ExAC
CA8585249
rs757626703
298 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1347225375
CA399684947
300 W>C No ClinGen
gnomAD
rs1225553357
CA399684954
300 W>R No ClinGen
gnomAD
CA8585247
rs778217364
302 E>K No ClinGen
ExAC
gnomAD
rs200971735
CA290800285
306 A>S No ClinGen
Ensembl
CA399684888
rs1379188272
309 Q>E No ClinGen
TOPMed
gnomAD
CA290800283
rs765850038
310 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs765850038
CA8585244
310 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs755099766
CA8585243
314 L>H No ClinGen
ExAC
gnomAD
rs754080310
CA8585242
315 H>Y No ClinGen
ExAC
gnomAD
rs761641647
CA8585240
319 N>S No ClinGen
ExAC
gnomAD
rs979013935
CA290800278
322 G>C No ClinGen
TOPMed
rs979013935
CA399684806
322 G>S No ClinGen
TOPMed
CA8585239
rs774338036
323 L>P No ClinGen
ExAC
gnomAD
CA8585237
rs149225760
326 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs775076091
CA8585236
327 R>G No ClinGen
ExAC
gnomAD
rs1386124887
CA399684747
329 R>* No ClinGen
TOPMed
rs368727081
CA399684744
329 R>L No ClinGen
ESP
TOPMed
gnomAD
rs368727081
CA290800142
329 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
gnomAD
rs765154431
CA8585218
331 V>I No ClinGen
ExAC
gnomAD
CA399684706
rs1203948279
333 Y>H No ClinGen
TOPMed
gnomAD
rs1292147005
CA399684694
COSM187171
334 G>R large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
rs776049315
CA8585216
336 H>Y No ClinGen
ExAC
gnomAD
CA399684647
rs1386343478
337 S>* No ClinGen
gnomAD
rs370094164
CA290800122
338 Y>C No ClinGen
ESP
TOPMed
gnomAD
CA399684639
rs1165575809
338 Y>H No ClinGen
gnomAD
CA399684574
rs1182860725
342 L>R No ClinGen
gnomAD
rs770565020
CA8585214
343 T>S No ClinGen
ExAC
gnomAD
rs760348987
CA8585213
346 S>Y No ClinGen
ExAC
gnomAD
rs773495871
CA8585212
347 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs1260814314
CA399683754
CA399683756
348 E>D No ClinGen
TOPMed
TCGA novel 348 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767198200
CA8585189
350 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs767198200
CA399683734
350 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA290799662
rs895117982
351 L>F No ClinGen
TOPMed
rs774605520
CA8585187
352 Y>H No ClinGen
ExAC
gnomAD
rs1448269249
CA399683694
353 C>G No ClinGen
gnomAD
CA399683690
rs1448269249
353 C>S No ClinGen
gnomAD
rs769170083
CA8585186
353 C>Y No ClinGen
ExAC
gnomAD
CA399683663
rs1323799718
355 G>R No ClinGen
gnomAD
rs1265390509
CA399683646
356 G>V No ClinGen
gnomAD
rs1395644174 357 L>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775584638
CA8585185
357 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs1567667349
CA399683604
359 F>I No ClinGen
Ensembl
rs746008150
CA8585182
361 W>R No ClinGen
ExAC
gnomAD
CA399683532
rs1467039052
362 D>G No ClinGen
TOPMed
CA8585181
rs781530087
363 N>S No ClinGen
ExAC
gnomAD
CA399683471
rs1360973249
366 D>N No ClinGen
gnomAD
CA290799659
rs928458876
367 H>R No ClinGen
Ensembl
rs747903095
CA8585179
367 H>Y No ClinGen
ExAC
gnomAD
rs1463833173
CA399683415
369 M>V No ClinGen
TOPMed
gnomAD
rs753731447
CA8585176
375 C>R No ClinGen
ExAC
gnomAD
CA399683291
rs1182368769
382 E>G No ClinGen
gnomAD
COSM979665
rs1302854122
CA399683258
387 E>K Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA399683242
rs1312667287
389 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA8585173
rs749985548
389 R>H No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 394 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA399683171
rs1291645410
397 D>G No ClinGen
gnomAD
CA399683161
rs1223843231
398 V>G No ClinGen
gnomAD
CA399683166
rs1353698657
398 V>M No ClinGen
TOPMed
rs749899706
CA8585155
400 K>R No ClinGen
ExAC
gnomAD
rs767022425
CA8585154
403 I>S No ClinGen
ExAC
gnomAD
VAR_005236 403 I>T No UniProt
TCGA novel 405 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1343597390
CA399683095
406 T>I No ClinGen
gnomAD
rs756848360
CA8585153
408 G>R No ClinGen
ExAC
gnomAD
CA8585152
rs751161673
409 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA399683068
rs1399770118
411 G>D No ClinGen
gnomAD
rs763193803
CA8585150
411 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA290799501
rs1033966096
413 Y>C No ClinGen
Ensembl
rs375451969
CA8585149
415 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1200853286
CA399683023
418 Q>P No ClinGen
gnomAD
rs765786652
CA8585147
425 W>C No ClinGen
ExAC
gnomAD
CA399682969
rs1452768169
425 W>S No ClinGen
TOPMed
CA399682950
rs1215084407
428 A>T No ClinGen
gnomAD
CA8585145
rs776784418
431 F>V No ClinGen
ExAC
gnomAD
CA399682880
rs1193725459
432 M>I No ClinGen
TOPMed
TCGA novel 433 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA399682834
rs1437821982
435 N>K No ClinGen
TOPMed
rs1405551165
CA399682842
435 N>T No ClinGen
gnomAD
rs557426928
CA8585142
436 L>V No ClinGen
1000Genomes
ExAC
gnomAD
CA399682738
rs1429368570
441 A>G No ClinGen
gnomAD
rs1364111667
CA399682729
442 W>* No ClinGen
TOPMed
TCGA novel 446 Q>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8585140
rs748988593
446 Q>K No ClinGen
ExAC
gnomAD
TCGA novel 447 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779856839
CA8585139
449 N>S No ClinGen
ExAC
gnomAD
CA8585138
rs769656999
450 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA399682590
rs1429110551
451 K>L No ClinGen
gnomAD

No associated diseases with Q14457

3 regional properties for Q14457

Type Name Position InterPro Accession
domain Beclin-1, BH3 domain 105 - 129 IPR029318
domain Atg6, BARA domain 264 - 445 IPR040455
domain Atg6/beclin, coiled-coil domain 135 - 261 IPR041691

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Golgi apparatus, trans-Golgi network membrane ; Peripheral membrane protein
  • Endosome membrane ; Peripheral membrane protein
  • Endoplasmic reticulum membrane ; Peripheral membrane protein
  • Mitochondrion membrane ; Peripheral membrane protein
  • Endosome
  • Cytoplasmic vesicle, autophagosome
  • Interaction with ATG14 promotes translocation to autophagosomes
  • Expressed in dendrites and cell bodies of cerebellar Purkinje cells (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

17 GO annotations of cellular component

Name Definition
autophagosome A double-membrane-bounded compartment that engulfs endogenous cellular material as well as invading microorganisms to target them to the lytic vacuole/lysosome for degradation as part of macroautophagy.
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.
dendrite A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
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 membrane The lipid bilayer surrounding the endoplasmic reticulum.
endosome A vacuole to which materials ingested by endocytosis are delivered.
endosome membrane The lipid bilayer surrounding an endosome.
extrinsic component of membrane The component of a membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region.
mitochondrial membrane Either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope.
nuclear body Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins.
phagocytic vesicle A membrane-bounded intracellular vesicle that arises from the ingestion of particulate material by phagocytosis.
phagophore assembly site Punctate structures proximal to the endoplasmic reticulum which are the sites where the Atg machinery assembles upon autophagy induction.
phosphatidylinositol 3-kinase complex, class III A phosphatidylinositol 3-kinase complex that contains a catalytic class III phosphoinositide 3-kinase (PI3K) subunit bound to a regulatory (adaptor) subunit. Additional adaptor proteins may be present. Class III PI3Ks have a substrate specificity restricted to phosphatidylinositol (PI).
phosphatidylinositol 3-kinase complex, class III, type I A class III phosphatidylinositol 3-kinase complex that is involved in autophagy. In budding yeast, this complex consists of Vps30p, Vps34p, Apg14p and Vps15p.
phosphatidylinositol 3-kinase complex, class III, type II A class III phosphatidylinositol 3-kinase complex that is involved in vacuolar protein sorting (VPS) via endosomes. In budding yeast, this complex consists of Vps30p, Vps34p, Vps38 and Vps15p.
trans-Golgi network The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination.

5 GO annotations of molecular function

Name Definition
GTPase binding Binding to a GTPase, any enzyme that catalyzes the hydrolysis of GTP.
identical protein binding Binding to an identical protein or proteins.
phosphatidylinositol 3-kinase binding Binding to a phosphatidylinositol 3-kinase, any enzyme that catalyzes the addition of a phosphate group to an inositol lipid at the 3' position of the inositol ring.
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.
ubiquitin protein ligase binding Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins.

51 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).
amyloid-beta metabolic process The chemical reactions and pathways involving amyloid-beta, a glycoprotein associated with Alzheimer's disease, and its precursor, amyloid precursor protein (APP).
apoptotic process A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
autophagosome assembly The formation of a double membrane-bounded structure, the autophagosome, that occurs when a specialized membrane sac, called the isolation membrane, starts to enclose a portion of the cytoplasm.
autophagosome maturation Removal of PI3P and Atg8/LC3 after the closure of the phagophore and before the fusion with the endosome/lysosome (e.g. mammals and insects) or vacuole (yeast), and that very likely destabilizes other Atg proteins and thus enables their efficient dissociation and recycling.
autophagy The cellular catabolic process in which cells digest parts of their own cytoplasm; allows for both recycling of macromolecular constituents under conditions of cellular stress and remodeling the intracellular structure for cell differentiation.
autophagy of mitochondrion The autophagic process in which mitochondria are delivered to a type of vacuole and degraded in response to changing cellular conditions.
cell division The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells.
cellular defense response A defense response that is mediated by cells.
cellular response to aluminum 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 an aluminum ion stimulus.
cellular response to amino acid starvation 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 deprivation of amino acids.
cellular response to copper 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 copper ion stimulus.
cellular response to epidermal growth factor stimulus 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 an epidermal growth factor stimulus.
cellular response to glucose starvation 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 deprivation of glucose.
cellular response to hydrogen peroxide 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 hydrogen peroxide (H2O2) stimulus.
cellular response to nitrogen starvation 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 deprivation of nitrogen.
defense response to virus Reactions triggered in response to the presence of a virus that act to protect the cell or organism.
early endosome to late endosome transport The directed movement of substances, in membrane-bounded vesicles, from the early sorting endosomes to the late sorting endosomes; transport occurs along microtubules and can be experimentally blocked with microtubule-depolymerizing drugs.
engulfment of apoptotic cell The removal of the apoptotic cell by phagocytosis, by a neighboring cell or by a phagocyte.
late endosome to vacuole transport The directed movement of substances from late endosomes to the vacuole. In yeast, after transport to the prevacuolar compartment, endocytic content is delivered to the late endosome and on to the vacuole. This pathway is analogous to endosome to lysosome transport.
lysosome organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a lysosome. A lysosome is a cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases.
macroautophagy The major inducible pathway for the general turnover of cytoplasmic constituents in eukaryotic cells, it is also responsible for the degradation of active cytoplasmic enzymes and organelles during nutrient starvation. Macroautophagy involves the formation of double-membrane-bounded autophagosomes which enclose the cytoplasmic constituent targeted for degradation in a membrane-bounded structure. Autophagosomes then fuse with a lysosome (or vacuole) releasing single-membrane-bounded autophagic bodies that are then degraded within the lysosome (or vacuole). Some types of macroautophagy, e.g. pexophagy, mitophagy, involve selective targeting of the targets to be degraded.
mitophagy The selective autophagy process in which a mitochondrion is degraded by macroautophagy.
mitotic metaphase plate congression The cell cycle process in which chromosomes are aligned at the metaphase plate, a plane halfway between the poles of the mitotic spindle, during mitosis.
negative regulation of apoptotic process Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
negative regulation of autophagosome assembly Any process that stops, prevents or reduces the frequency, rate or extent of autophagosome assembly.
negative regulation of cell death Any process that decreases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death.
negative regulation of cell population proliferation Any process that stops, prevents or reduces the rate or extent of cell proliferation.
negative regulation of lysosome organization Any process that stops, prevents or reduces the frequency, rate or extent of lysosome organization.
negative regulation of reactive oxygen species metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of reactive oxygen species metabolic process.
neuron development The process whose specific outcome is the progression of a neuron over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell.
phosphatidylinositol-3-phosphate biosynthetic process The chemical reactions and pathways resulting in the formation of phosphatidylinositol-3-phosphate, a phosphatidylinositol monophosphate carrying the phosphate group at the 3-position.
positive regulation of attachment of mitotic spindle microtubules to kinetochore Any process that activates or increases the frequency, rate or extent of attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation.
positive regulation of autophagosome assembly Any process that activates or increases the frequency, rate or extent of autophagic vacuole assembly.
positive regulation of autophagy Any process that activates, maintains or increases the rate of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm.
positive regulation of cardiac muscle hypertrophy Any process that increases the rate, frequency or extent of the enlargement or overgrowth of all or part of the heart due to an increase in size (not length) of individual cardiac muscle fibers, without cell division.
positive regulation of intrinsic apoptotic signaling pathway Any process that activates or increases the frequency, rate or extent of intrinsic apoptotic signaling pathway.
positive regulation of phosphatidylinositol 3-kinase signaling Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade.
protein phosphorylation The process of introducing a phosphate group on to a protein.
protein targeting to lysosome The process of directing proteins towards the lysosome using signals contained within the protein.
receptor catabolic process The chemical reactions and pathways resulting in the breakdown of a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.
regulation of autophagy Any process that modulates the frequency, rate or extent of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm.
regulation of catalytic activity Any process that modulates the activity of an enzyme.
regulation of cytokinesis Any process that modulates the frequency, rate or extent of the division of the cytoplasm of a cell and its separation into two daughter cells.
regulation of macroautophagy Any process that modulates the frequency, rate or extent of macroautophagy.
response to hypoxia 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 stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level.
response to iron(II) 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 an iron(II) ion stimulus.
response to lead 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 lead ion stimulus.
response to mitochondrial depolarisation Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) in response to the depolarization of one or more mitochondria.
response to vitamin E 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 vitamin E stimulus.
response to xenobiotic stimulus 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 stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.

7 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q4A1L4 BECN1 Beclin-1 Bos taurus (Bovine) PR
Q5ZKS6 BECN1 Beclin-1 Gallus gallus (Chicken) PR
A8MW95 BECN2 Beclin-2 Homo sapiens (Human) PR
O88597 Becn1 Beclin-1 Mus musculus (Mouse) PR
Q4A1L5 BECN1 Beclin-1 Sus scrofa (Pig) PR
Q91XJ1 Becn1 Beclin-1 Rattus norvegicus (Rat) PR
Q4A1L3 becn1 Beclin-1 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
10 20 30 40 50 60
MEGSKTSNNS TMQVSFVCQR CSQPLKLDTS FKILDRVTIQ ELTAPLLTTA QAKPGETQEE
70 80 90 100 110 120
ETNSGEEPFI ETPRQDGVSR RFIPPARMMS TESANSFTLI GEASDGGTME NLSRRLKVTG
130 140 150 160 170 180
DLFDIMSGQT DVDHPLCEEC TDTLLDQLDT QLNVTENECQ NYKRCLEILE QMNEDDSEQL
190 200 210 220 230 240
QMELKELALE EERLIQELED VEKNRKIVAE NLEKVQAEAE RLDQEEAQYQ REYSEFKRQQ
250 260 270 280 290 300
LELDDELKSV ENQMRYAQTQ LDKLKKTNVF NATFHIWHSG QFGTINNFRL GRLPSVPVEW
310 320 330 340 350 360
NEINAAWGQT VLLLHALANK MGLKFQRYRL VPYGNHSYLE SLTDKSKELP LYCSGGLRFF
370 380 390 400 410 420
WDNKFDHAMV AFLDCVQQFK EEVEKGETRF CLPYRMDVEK GKIEDTGGSG GSYSIKTQFN
430 440
SEEQWTKALK FMLTNLKWGL AWVSSQFYNK