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 Q9Y6P5

Entry ID Method Resolution Chain Position Source
AF-Q9Y6P5-F1 Predicted AlphaFoldDB

341 variants for Q9Y6P5

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1330134273
CA365186465
4 A>V No ClinGen
TOPMed
rs1269990209
CA365186453
6 A>V No ClinGen
gnomAD
CA145040450
rs867105017
7 A>V No ClinGen
Ensembl
rs896154275
CA365186440
8 N>K No ClinGen
TOPMed
gnomAD
CA365186437
rs1345847077
9 E>* No ClinGen
TOPMed
CA145040437
rs868222731
9 E>G No ClinGen
gnomAD
CA3950597
rs142983751
10 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA365186427
rs1257862514
11 Y>N No ClinGen
Ensembl
CA365186418
rs1278393227
12 T>A No ClinGen
TOPMed
gnomAD
TCGA novel 14 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1295341800
CA365186405
14 P>T No ClinGen
gnomAD
CA365186379
rs1324549257
18 S>* No ClinGen
gnomAD
CA365186372
rs1298149118
19 G>E No ClinGen
gnomAD
CA3950596
rs755639093
22 G>S No ClinGen
ExAC
gnomAD
CA365186335
rs1490247771
25 Q>R No ClinGen
TOPMed
rs748685243
CA3950595
26 C>G No ClinGen
ExAC
CA365186325
rs1213232905
26 C>W No ClinGen
gnomAD
CA145040400
rs771298906
27 G>S No ClinGen
TOPMed
gnomAD
rs1208056055
CA365186315
28 G>E No ClinGen
Ensembl
TCGA novel 28 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781592728
CA3950594
29 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs1361817251
CA365186301
31 D>N No ClinGen
gnomAD
CA145040379
rs887608622
32 Q>* No ClinGen
Ensembl
rs887330063
CA365186261
33 D>E No ClinGen
TOPMed
gnomAD
CA145040377
rs1048916111
33 D>G No ClinGen
Ensembl
CA365186256
rs1249653928
34 E>* No ClinGen
gnomAD
CA365186250
rs1191728782
34 E>V No ClinGen
gnomAD
CA365191158
rs1171482262
36 L>F No ClinGen
gnomAD
CA3950586
rs146922968
37 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1253602779
CA365191121
42 R>* No ClinGen
gnomAD
CA3950585
rs767306041
42 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA3950584
rs2273668
VAR_014210
44 L>I No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2273668
CA145065764
44 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs147845692
CA3950583
45 G>A No ClinGen
ESP
ExAC
rs1418622558
CA365191081
49 S>N No ClinGen
TOPMed
gnomAD
CA365191072
rs1196032474
50 R>S No ClinGen
gnomAD
CA3950582
rs552659231
50 R>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs748926614
CA365191064
CA3950581
51 F>L No ClinGen
ExAC
gnomAD
CA365191058
rs1278673127
52 I>S No ClinGen
gnomAD
rs772807801
CA3950580
53 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA3950579
rs369021558
56 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA365191013
rs1583265368
57 I>N No ClinGen
Ensembl
rs775940697
CA3950555
58 L>R No ClinGen
ExAC
gnomAD
rs1415613973
CA365190990
61 G>R No ClinGen
gnomAD
CA365190981
rs1375852932
62 S>N No ClinGen
TOPMed
gnomAD
rs774482265
CA145065068
62 S>R No ClinGen
gnomAD
CA145065065
rs1005093051
63 E>K No ClinGen
TOPMed
gnomAD
CA3950552
rs376950903
65 A>P No ClinGen
ESP
ExAC
gnomAD
COSM1225322
CA3950553
rs376950903
65 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
gnomAD
CA365190958
rs1374465320
66 Q>* No ClinGen
Ensembl
CA365190940
rs1399505254
68 H>D No ClinGen
TOPMed
CA3950551
rs772540397
68 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1186849805
CA365190932
69 A>S No ClinGen
gnomAD
rs149726227
CA3950550
72 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM1071948
CA3950549
rs779364145
74 S>Y Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3950548
rs757353675
75 F>Y No ClinGen
ExAC
gnomAD
rs749478685
CA145065031
76 A>V No ClinGen
Ensembl
rs756253993
CA3950545
80 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs371591680
CA3950544
80 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA365190856
rs1272563178
81 L>W No ClinGen
gnomAD
CA3950543
rs766355196
82 D>N No ClinGen
ExAC
gnomAD
CA3950542
rs762972224
85 T>M No ClinGen
ExAC
gnomAD
CA365190829
rs1381565272
85 T>S No ClinGen
gnomAD
CA3950540
rs765087833
87 V>L No ClinGen
ExAC
gnomAD
CA145064976
rs11556938
89 V>A No ClinGen
Ensembl
rs776488244
CA3950538
93 Q>R No ClinGen
ExAC
gnomAD
TCGA novel 96 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1163492427
CA365190753
96 E>G No ClinGen
gnomAD
rs768245807
CA365190756
96 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA3950537
rs768245807
96 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA3950536
rs760307290
97 S>C No ClinGen
ExAC
gnomAD
rs1429037232
CA365190747
97 S>N No ClinGen
TOPMed
TCGA novel 98 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1184378999
CA365190704
103 H>Y No ClinGen
gnomAD
rs1243042829
CA365190694
104 Y>C No ClinGen
TOPMed
gnomAD
CA365190693
rs1243042829
104 Y>S No ClinGen
TOPMed
gnomAD
CA3950532
rs201465645
108 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3950533
rs746389602
108 M>V No ClinGen
ExAC
gnomAD
rs1252484837
CA365190660
109 D>G No ClinGen
gnomAD
CA365190654
rs1214343983
110 G>R No ClinGen
gnomAD
rs1271196492
CA365190646
111 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA3950531
rs771384645
111 P>S No ClinGen
ExAC
gnomAD
CA3950529
rs778011237
115 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA365190627
rs1437191840
115 H>Y No ClinGen
gnomAD
rs769935193
CA3950528
117 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs748178740
CA3950527
117 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs79832046
CA3950525
118 H>Q No ClinGen
ExAC
TOPMed
CA3950526
rs781284555
118 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1167959734
CA365190594
120 I>L No ClinGen
TOPMed
gnomAD
rs151284724
CA3950524
120 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1167959734
CA365190593
120 I>V No ClinGen
TOPMed
gnomAD
CA3950505
rs745757510
125 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1562455891
CA365190530
128 H>D No ClinGen
Ensembl
rs368711688
CA3950503
128 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1405886915
CA365190527
128 H>R No ClinGen
gnomAD
CA145064323
rs1047353354
129 Q>H No ClinGen
Ensembl
rs930318022
CA145064313
130 C>R No ClinGen
Ensembl
CA3950502
rs753622961
132 Y>* No ClinGen
ExAC
gnomAD
CA3950501
rs764014847
133 L>F No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 133 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3950500
rs755780757
135 N>T No ClinGen
ExAC
gnomAD
CA365190477
rs1218494361
136 L>M No ClinGen
TOPMed
CA3950498
rs375028635
137 H>R No ClinGen
ESP
ExAC
gnomAD
CA3950497
rs759152035
139 N>S No ClinGen
ExAC
gnomAD
rs200097683
CA145064286
142 L>P No ClinGen
TOPMed
rs374094607
CA145064250
143 H>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3950495
rs374094607
143 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3950496
rs774705909
143 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA145064219
rs984736083
145 G>D No ClinGen
TOPMed
CA3950494
rs773524051
145 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs773524051
CA3950493
145 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs770163426
CA3950492
146 G>R No ClinGen
ExAC
gnomAD
rs974512964
CA145064200
147 D>N No ClinGen
Ensembl
rs140062020
CA3950491
148 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3950490
rs776948785
149 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA365190398
rs776948785
149 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs1375235139
CA365190391
150 W>* No ClinGen
gnomAD
CA3950489
rs760197100
152 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs747056609
CA3950488
153 G>S No ClinGen
ExAC
gnomAD
CA145064183
rs987716314
155 E>V No ClinGen
Ensembl
rs1343896583
CA365190350
156 N>S No ClinGen
gnomAD
TCGA novel 158 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3950486
rs770954026
158 P>S No ClinGen
ExAC
gnomAD
CA3950485
rs749261620
159 Q>E No ClinGen
ExAC
gnomAD
TCGA novel 162 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1279209258
CA365190296
164 L>S No ClinGen
TOPMed
CA365190291
rs1348552399
165 G>R No ClinGen
TOPMed
CA365190284
rs1032022376
166 E>* No ClinGen
gnomAD
COSM739725
CA145064165
rs1032022376
166 E>K lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1182185267
CA365190274
167 L>P No ClinGen
gnomAD
CA3950483
rs756014265
168 N>K No ClinGen
ExAC
gnomAD
rs961520823
CA145064161
168 N>S No ClinGen
TOPMed
TCGA novel 169 K>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1461253100
CA365190250
171 L>S No ClinGen
TOPMed
rs549678440
CA3950481
173 H>N No ClinGen
1000Genomes
ExAC
gnomAD
CA365190236
rs1269416704
173 H>R No ClinGen
gnomAD
rs1008424804
CA145064151
174 R>S No ClinGen
TOPMed
rs751013218
CA3950479
175 P>T No ClinGen
ExAC
gnomAD
CA3950477
rs763399693
178 I>V No ClinGen
ExAC
gnomAD
CA365190200
rs1398205221
179 T>A No ClinGen
gnomAD
rs776876641
CA3950473
183 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA3950474
rs371392243
183 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA365190119
rs1391212122
189 A>T No ClinGen
TOPMed
rs1436299259
CA365190116
189 A>V No ClinGen
TOPMed
rs977464045
CA145063087
190 E>K No ClinGen
Ensembl
CA365190106
rs1479431236
191 E>K No ClinGen
gnomAD
CA365190020
rs1397460744
197 A>G No ClinGen
TOPMed
rs1376515862
CA365190024
197 A>T No ClinGen
TOPMed
CA365189986
rs1344722599
200 V>L No ClinGen
gnomAD
CA365189973
rs1234180002
201 H>P No ClinGen
gnomAD
CA365189975
rs1234180002
201 H>R No ClinGen
gnomAD
rs376971427
CA3950445
202 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA145063067
rs369712213
205 L>V No ClinGen
ESP
TOPMed
rs373895777
CA145063052
210 H>D No ClinGen
ESP
CA365189884
rs1254092400
210 H>R No ClinGen
TOPMed
CA145063037
rs35697331
214 S>* No ClinGen
ExAC
TOPMed
gnomAD
CA3950441
rs35697331
214 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA365189823
rs1472309889
216 T>I No ClinGen
TOPMed
rs1377729830
CA365189821
217 F>I No ClinGen
TOPMed
gnomAD
CA365189820
rs1377729830
217 F>L No ClinGen
TOPMed
gnomAD
rs1220310443
CA365189808
218 G>S No ClinGen
Ensembl
rs1416772262
CA365189781
220 G>A No ClinGen
gnomAD
rs369355631
CA3950438
222 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3950437
rs768383429
223 P>L No ClinGen
ExAC
gnomAD
TCGA novel 223 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3950436
rs746639044
224 E>A No ClinGen
ExAC
gnomAD
TCGA novel 228 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779744842
CA3950435
COSM1071947
232 T>I Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs757886717
CA3950434
233 F>Y No ClinGen
ExAC
gnomAD
CA3950433
rs745320994
234 R>G No ClinGen
ExAC
gnomAD
CA365189635
rs1349913754
234 R>T No ClinGen
gnomAD
rs1467217774
CA365189610
237 S>P No ClinGen
TOPMed
rs553986577
CA3950431
238 V>I No ClinGen
1000Genomes
ExAC
gnomAD
CA365189575
rs1310807543
240 N>I No ClinGen
gnomAD
CA365189577
rs1310807543
240 N>S No ClinGen
gnomAD
rs1310807543
CA365189578
240 N>T No ClinGen
gnomAD
rs375753083
CA3950430
241 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA365189556
rs1402890371
242 C>S No ClinGen
gnomAD
rs754354528
CA3950429
243 I>T No ClinGen
ExAC
gnomAD
CA3950427
rs756502932
248 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs748655496
CA145062920
250 N>S No ClinGen
gnomAD
CA365189475
rs1562455024
251 H>P No ClinGen
Ensembl
rs1255881041
CA365189472
251 H>Q No ClinGen
gnomAD
rs1261941152
CA365189476
251 H>Y No ClinGen
gnomAD
CA3950425
rs767789452
252 S>G No ClinGen
ExAC
gnomAD
CA365189464
rs1443331379
252 S>R No ClinGen
TOPMed
gnomAD
rs548806605
CA3950424
253 V>M No ClinGen
1000Genomes
ExAC
gnomAD
rs1034106509
CA145062887
254 D>A No ClinGen
Ensembl
CA3950423
rs138898747
255 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA145062861
rs904434135
256 M>I No ClinGen
TOPMed
rs1328647386
CA365189440
256 M>T No ClinGen
gnomAD
rs150654249
CA3950421
257 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3950422
rs150654249
257 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1283800278
CA365189419
259 N>K No ClinGen
gnomAD
CA3950419
rs143545521
259 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA365189405
rs1447071069
262 E>K No ClinGen
gnomAD
rs746834049
CA365189383
265 S>A No ClinGen
ExAC
gnomAD
rs746834049
CA3950418
265 S>P No ClinGen
ExAC
gnomAD
CA145060433
rs535710671
266 V>G No ClinGen
gnomAD
rs200255805
CA3950404
267 S>N No ClinGen
1000Genomes
ExAC
gnomAD
CA145060427
rs112563275
267 S>R No ClinGen
TOPMed
gnomAD
TCGA novel 267 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA365189349
rs1191054545
269 S>P No ClinGen
gnomAD
rs1057129965
CA145060396
275 A>V No ClinGen
Ensembl
rs763876525
CA3950400
277 M>I No ClinGen
ExAC
gnomAD
rs958191694
CA145060389
277 M>V No ClinGen
TOPMed
CA365189248
rs75780557
283 L>I No ClinGen
TOPMed
rs75780557
CA145060388
283 L>V No ClinGen
TOPMed
rs1291786157
CA365189235
284 Q>H No ClinGen
gnomAD
CA145060384
rs757704028
286 C>S No ClinGen
TOPMed
gnomAD
TCGA novel 287 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1218235551
CA365189219
287 R>G No ClinGen
TOPMed
CA365189217
rs1341157600
287 R>Q No ClinGen
gnomAD
CA3950398
rs760701656
288 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs1048535718
CA145060355
290 E>Q No ClinGen
TOPMed
gnomAD
rs759161337
CA3950394
293 S>N No ClinGen
ExAC
gnomAD
rs1305765392
CA365189166
294 Q>R No ClinGen
gnomAD
rs1429593576
CA365189142
297 M>R No ClinGen
TOPMed
gnomAD
rs1429593576
CA365189143
297 M>T No ClinGen
TOPMed
gnomAD
rs1554262797
CA3950392
299 S>L No ClinGen
Ensembl
TCGA novel 304 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 306 R>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA365189079
rs903300709
306 R>I No ClinGen
TOPMed
gnomAD
CA145060303
rs903300709
306 R>K No ClinGen
TOPMed
gnomAD
CA3950390
rs770462649
307 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs760878307
CA145060302
307 E>K No ClinGen
gnomAD
rs371879536
CA3950389
308 S>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 308 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 309 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs768870908
CA145060284
310 F>L No ClinGen
Ensembl
rs777341294
CA3950386
310 F>S No ClinGen
ExAC
gnomAD
CA145060282
rs1020343983
311 V>A No ClinGen
TOPMed
rs1361261634
CA365189048
311 V>I No ClinGen
TOPMed
rs1278575875
CA365189034
313 S>P No ClinGen
TOPMed
CA365189032
rs1231430248
313 S>Y No ClinGen
gnomAD
rs770423654
CA3950370
317 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs934016829
CA145059040
317 E>G No ClinGen
Ensembl
rs762697538
CA365188986
318 E>A No ClinGen
ExAC
gnomAD
CA3950368
rs772548122
318 E>D No ClinGen
ExAC
gnomAD
rs762697538
CA3950369
318 E>V No ClinGen
ExAC
gnomAD
rs769392905
CA3950367
319 V>A No ClinGen
ExAC
rs1284575951
CA365188977
320 T>A No ClinGen
TOPMed
rs968168864
CA145059008
320 T>R No ClinGen
Ensembl
rs748633348
CA3950365
321 P>L No ClinGen
ExAC
rs1273995657
CA365188971
321 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA365188968
rs1394690343
322 A>T No ClinGen
TOPMed
gnomAD
rs781780594
CA3950364
326 S>A No ClinGen
ExAC
CA3950362
rs557313505
327 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs780468161
CA3950361
327 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs750711133
CA3950359
334 Y>H No ClinGen
ExAC
gnomAD
rs757397697
CA3950357
336 Y>C No ClinGen
ExAC
gnomAD
rs1421897691
CA365188823
336 Y>H No ClinGen
gnomAD
CA365188811
rs1182383634
337 K>E No ClinGen
gnomAD
CA365188799
rs201225098
338 D>H No ClinGen
gnomAD
rs201225098
CA145058939
338 D>N No ClinGen
gnomAD
CA365188767
rs752619167
341 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs767386298
CA3950355
343 G>R No ClinGen
ExAC
CA3950354
rs759474520
345 H>P No ClinGen
ExAC
gnomAD
rs370356794
CA3950353
347 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3950352
rs199611315
COSM3766885
350 R>C liver [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs772956928
CA3950351
350 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs772956928
CA3950350
350 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA3950349
rs377481017
351 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766055393
CA3950335
354 Y>H No ClinGen
ExAC
gnomAD
CA3950333
rs750027141
356 W>G No ClinGen
ExAC
gnomAD
rs764922603
CA3950332
357 E>D No ClinGen
ExAC
CA365188453
rs1391783010
357 E>K No ClinGen
gnomAD
CA3950331
rs761558481
359 H>N No ClinGen
ExAC
gnomAD
CA3950330
rs776238078
359 H>R No ClinGen
ExAC
gnomAD
rs761059613
CA3950328
362 S>A No ClinGen
ExAC
gnomAD
rs1475851538
CA365188391
366 R>C No ClinGen
TOPMed
gnomAD
CA145057162
rs937114076
368 Y>F No ClinGen
TOPMed
CA365188368
rs1238842417
369 P>L No ClinGen
TOPMed
CA365188325
rs201020606
376 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA3950327
rs201020606
376 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA365188312
rs1196069006
377 E>D No ClinGen
gnomAD
CA145057156
rs927070728
378 K>E No ClinGen
TOPMed
gnomAD
rs772314185
CA3950326
379 F>V No ClinGen
ExAC
rs746187351
CA3950325
381 I>V No ClinGen
ExAC
gnomAD
CA365188277
rs1261981726
382 A>V No ClinGen
TOPMed
CA3950324
rs774585259
384 N>D No ClinGen
ExAC
gnomAD
CA365188267
rs774585259
384 N>H No ClinGen
ExAC
gnomAD
rs1482287006
CA365188265
384 N>S No ClinGen
gnomAD
rs757974485
CA145057143
388 N>S No ClinGen
Ensembl
rs1206545392
CA365188222
390 M>I No ClinGen
gnomAD
CA365188211
rs1254750453
392 M>T No ClinGen
gnomAD
CA3950322
rs749534099
392 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs777807556
CA3950321
394 K>E No ClinGen
ExAC
gnomAD
rs1331747916
CA365188189
395 D>H No ClinGen
TOPMed
gnomAD
TCGA novel 400 M>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3950320
rs756225119
400 M>V No ClinGen
ExAC
gnomAD
CA3950319
rs777845724
403 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1473700910
CA365188097
408 Y>C No ClinGen
TOPMed
CA3950318
rs369330706
410 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3950317
rs758278301
411 C>R No ClinGen
ExAC
gnomAD
CA3950316
CA365188067
rs750161025
412 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA145057128
rs1016537660
412 M>V No ClinGen
TOPMed
gnomAD
CA365188053
rs1356056565
414 G>A No ClinGen
gnomAD
CA145057124
rs918537818
416 R>K No ClinGen
Ensembl
CA365187850
rs146939598
417 Y>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3950300
rs773489599
418 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA365187845
rs1373901982
418 D>Y No ClinGen
TOPMed
CA145055764
rs370303610
421 D>N No ClinGen
Ensembl
CA3950297
rs748198330
422 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs1269074691
CA365187766
424 E>V No ClinGen
gnomAD
CA3950292
rs757187967
431 R>C Variant assessed as Somatic; 0.0003743 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3950291
rs369093694
431 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA365187686
rs369093694
431 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3950289
COSM1672662
rs755727138
436 Y>D large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
TCGA novel 437 I>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1387254019
CA365187615
437 I>N No ClinGen
gnomAD
rs1387254019
CA365187617
437 I>S No ClinGen
gnomAD
TCGA novel 439 T>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 441 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1473317780
CA365187520
450 R>T No ClinGen
gnomAD
CA365187512
rs1387678283
451 M>T No ClinGen
gnomAD
rs1448953598
CA365187495
453 D>G No ClinGen
gnomAD
rs773577159
CA3950282
457 R>K No ClinGen
ExAC
gnomAD
rs1209067119
CA569152513
463 E>A* No ClinGen
gnomAD
CA365187412
rs1583255529
464 K>E No ClinGen
Ensembl
rs1306510376
CA365187392
465 V>F No ClinGen
gnomAD
CA365187380
rs1266402509
467 V>I No ClinGen
TOPMed
rs3799831
CA145055239
468 N>I No ClinGen
Ensembl
rs201885358
CA3950267
472 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1485777558
CA365187349
472 I>V No ClinGen
TOPMed
CA365187328
rs1583254669
475 R>K No ClinGen
Ensembl
rs766813574
CA3950266
477 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs916523363
CA145055220
481 L>I No ClinGen
Ensembl
CA365187268
rs1412902067
483 A>V No ClinGen
gnomAD
CA145055207
rs960349001
485 R>S No ClinGen
TOPMed
gnomAD
rs750741495
CA3950264
486 A>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 486 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1482587346
CA365187246
487 I>M No ClinGen
TOPMed
gnomAD
rs762070609
CA3950262
487 I>T No ClinGen
ExAC
gnomAD
rs1442130633
CA365187244
488 T>A No ClinGen
gnomAD
rs1233452635
CA365187241
488 T>N No ClinGen
gnomAD
rs776788098
CA3950261
489 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs760783455
CA3950259
489 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs760783455
CA3950260
489 R>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel
CA145055157
rs868221814
491 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
Ensembl
rs1212255665
CA365187208
493 T>W No ClinGen
gnomAD

No associated diseases with Q9Y6P5

No regional properties for Q9Y6P5

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q9Y6P5

Functions

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

5 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
fibrillar center A structure found most metazoan nucleoli, but not usually found in lower eukaryotes; surrounded by the dense fibrillar component; the zone of transcription from multiple copies of the pre-rRNA genes is in the border region between these two structures.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

2 GO annotations of molecular function

Name Definition
leucine binding Binding to 2-amino-4-methylpentanoic acid.
oxidoreductase activity, acting on peroxide as acceptor Catalysis of an oxidation-reduction (redox) reaction in which the peroxide group acts as a hydrogen or electron acceptor.

9 GO annotations of biological process

Name Definition
cellular oxidant detoxification Any process carried out at the cellular level that reduces or removes the toxicity superoxide radicals or hydrogen peroxide.
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 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 leucine 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 leucine stimulus.
cellular response to leucine 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 leucine.
negative regulation of TORC1 signaling Any process that stops, prevents or reduces the frequency, rate or extent of TORC1 signaling.
positive regulation of macroautophagy Any process, such as recognition of nutrient depletion, that activates or increases the rate of macroautophagy to bring cytosolic macromolecules to the vacuole/lysosome for degradation.
reactive oxygen species metabolic process The chemical reactions and pathways involving a reactive oxygen species, any molecules or ions formed by the incomplete one-electron reduction of oxygen. They contribute to the microbicidal activity of phagocytes, regulation of signal transduction and gene expression, and the oxidative damage to biopolymers.
regulation of response to reactive oxygen species Any process that modulates the frequency, rate or extent of response to reactive oxygen species.

3 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P58005 SESN3 Sestrin-3 Homo sapiens (Human) PR
P58006 Sesn1 Sestrin-1 Mus musculus (Mouse) PR
Q9N4D6 sesn-1 Sestrin homolog Caenorhabditis elegans PR
10 20 30 40 50 60
MRLAAAANEA YTAPLAVSGL LGCKQCGGGR DQDEELGIRI PRPLGQGPSR FIPEKEILQV
70 80 90 100 110 120
GSEDAQMHAL FADSFAALGR LDNITLVMVF HPQYLESFLK TQHYLLQMDG PLPLHYRHYI
130 140 150 160 170 180
GIMAAARHQC SYLVNLHVND FLHVGGDPKW LNGLENAPQK LQNLGELNKV LAHRPWLITK
190 200 210 220 230 240
EHIEGLLKAE EHSWSLAELV HAVVLLTHYH SLASFTFGCG ISPEIHCDGG HTFRPPSVSN
250 260 270 280 290 300
YCICDITNGN HSVDEMPVNS AENVSVSDSF FEVEALMEKM RQLQECRDEE EASQEEMASR
310 320 330 340 350 360
FEIEKRESMF VFSSDDEEVT PARAVSRHFE DTSYGYKDFS RHGMHVPTFR VQDYCWEDHG
370 380 390 400 410 420
YSLVNRLYPD VGQLIDEKFH IAYNLTYNTM AMHKDVDTSM LRRAIWNYIH CMFGIRYDDY
430 440 450 460 470 480
DYGEINQLLD RSFKVYIKTV VCTPEKVTKR MYDSFWRQFK HSEKVHVNLL LIEARMQAEL
490
LYALRAITRY MT