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 Q9NU53

Entry ID Method Resolution Chain Position Source
AF-Q9NU53-F1 Predicted AlphaFoldDB

237 variants for Q9NU53

Variant ID(s) Position Change Description Diseaes Association Provenance
rs745626953
CA4042587
3 G>D No ClinGen
ExAC
gnomAD
CA4042586
rs780954745
3 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA366009515
rs1285112911
4 A>T No ClinGen
gnomAD
rs769668787
CA4042588
6 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs562448511
CA4042590
7 G>V No ClinGen
1000Genomes
ExAC
gnomAD
CA366009540
rs1210648307
8 S>L No ClinGen
TOPMed
gnomAD
rs774501814
CA4042592
10 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs774501814
CA366009548
10 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs762047324
CA4042593
11 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA366009587
rs977719157
17 V>L No ClinGen
TOPMed
gnomAD
rs977719157
CA149955454
17 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA4042597
rs766718765
18 A>V No ClinGen
ExAC
gnomAD
CA149955478
rs754216692
20 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA4042598
rs754216692
20 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA366009621
rs1293113391
23 G>D No ClinGen
gnomAD
CA149955483
rs955280445
23 G>S No ClinGen
TOPMed
rs755411796
CA366009628
24 W>* No ClinGen
ExAC
TOPMed
gnomAD
CA366009625
rs1351289320
24 W>* No ClinGen
gnomAD
rs755411796
CA4042599
24 W>C No ClinGen
ExAC
TOPMed
gnomAD
CA149955501
rs911057726
26 T>A No ClinGen
TOPMed
gnomAD
rs997881466
CA149955504
26 T>M No ClinGen
Ensembl
rs1562268775
CA366009647
28 G>S No ClinGen
Ensembl
CA4042603
rs780676050
30 P>A No ClinGen
ExAC
gnomAD
CA4042604
rs532883672
30 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA366009658
rs780676050
30 P>S No ClinGen
ExAC
gnomAD
CA4042606
rs779837750
32 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA366009685
rs1183901292
34 P>L No ClinGen
gnomAD
CA149955553
rs969328527
36 S>F No ClinGen
Ensembl
CA149955560
rs978848016
37 G>E No ClinGen
TOPMed
gnomAD
CA366009696
rs1172698002
37 G>R No ClinGen
gnomAD
rs774483236
CA4042609
38 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1031743815
CA149955569
38 A>V No ClinGen
TOPMed
gnomAD
rs1428957383
CA366009709
39 P>R No ClinGen
TOPMed
rs1368630088
CA366009713
40 Q>* No ClinGen
TOPMed
CA4042610
rs761957253
40 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA365999486
rs1302570398
41 D>G No ClinGen
gnomAD
CA4042627
rs754864124
42 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA4042625
rs142853295
42 G>R No ClinGen
ESP
ExAC
gnomAD
COSM1074430
rs142853295
CA4042626
42 G>S Variant assessed as Somatic; 4.667e-05 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
gnomAD
CA365999545
rs1273920970
45 I>M No ClinGen
gnomAD
CA4042628
rs199901540
48 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4042629
rs748052857
49 T>I No ClinGen
ExAC
gnomAD
rs771917817
CA4042630
53 D>G No ClinGen
ExAC
gnomAD
CA365999651
rs1485179756
55 D>Y No ClinGen
TOPMed
rs747124651
CA149908132
56 I>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 56 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4042632
rs747124651
56 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs771172096
COSM421040
CA4042633
57 S>P urinary_tract [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
rs1278918911
CA365999681
58 K>E No ClinGen
TOPMed
rs776886244
CA4042634
60 Q>* No ClinGen
ExAC
gnomAD
rs1562270336
CA365999719
60 Q>H No ClinGen
Ensembl
CA4042648
rs758354098
62 V>I No ClinGen
ExAC
gnomAD
CA4042649
rs777630061
63 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs1417958067
CA365999872
64 N>D No ClinGen
TOPMed
gnomAD
CA365999927
rs1287037295
67 Y>H No ClinGen
gnomAD
TCGA novel 68 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1314663881
CA365999982
70 G>E No ClinGen
gnomAD
rs1396365007
CA365999978
70 G>R No ClinGen
gnomAD
CA4042654
rs373801091
75 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs770015787
CA4042655
76 D>N No ClinGen
ExAC
gnomAD
CA4042657
rs763289534
78 P>A No ClinGen
ExAC
gnomAD
CA366000106
rs1202492778
78 P>L No ClinGen
gnomAD
CA366000156
rs1485430253
82 G>V No ClinGen
gnomAD
CA4042658
rs541056398
83 V>A No ClinGen
1000Genomes
ExAC
gnomAD
rs774766879
CA4042659
84 T>N No ClinGen
ExAC
TOPMed
gnomAD
rs762417430
CA4042660
85 R>* No ClinGen
ExAC
gnomAD
CA4042661
rs761125598
85 R>Q No ClinGen
ExAC
gnomAD
rs753416345
CA4042662
86 I>R No ClinGen
ExAC
TOPMed
gnomAD
CA366000206
rs1469745270
87 S>N No ClinGen
TOPMed
rs765049479
CA4042664
88 C>R No ClinGen
ExAC
gnomAD
rs1414398575
CA366000243
91 L>S No ClinGen
gnomAD
rs1554219254
COSM1545115
CA4042665
93 V>L lung [Cosmic] No ClinGen
cosmic curated
Ensembl
CA366001091
rs1277245329
94 K>* No ClinGen
gnomAD
rs1582735473
CA366001104
95 N>I No ClinGen
Ensembl
TCGA novel 97 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA366001119
rs1192687017
97 N>S No ClinGen
TOPMed
rs1266046835
CA366001162
103 E>* No ClinGen
gnomAD
rs759175308
CA4042692
103 E>V No ClinGen
ExAC
gnomAD
TCGA novel 104 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs764963346
CA4042693
105 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA4042695
rs145071660
109 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA366001246
rs1429074272
115 L>* No ClinGen
gnomAD
rs1172358563
CA366001250
115 L>F No ClinGen
gnomAD
rs763745277
CA4042696
116 V>G No ClinGen
ExAC
gnomAD
CA366001259
rs1421397494
117 H>R No ClinGen
gnomAD
rs200356862
CA4042698
119 W>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200356862
CA4042699
119 W>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4042697
rs148558124
119 W>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs557030904
CA149912578
120 P>L No ClinGen
Ensembl
CA149912605
rs938916757
121 M>T No ClinGen
TOPMed
rs750484367
CA4042700
121 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs756233383
CA4042702
124 G>C No ClinGen
ExAC
gnomAD
rs756233383
CA4042701
124 G>R No ClinGen
ExAC
gnomAD
rs867547443
CA149912635
125 S>F No ClinGen
Ensembl
rs1394332421
CA366001359
126 S>G No ClinGen
gnomAD
rs779084458
CA4042705
133 Q>E No ClinGen
ExAC
gnomAD
CA4042706
rs748594378
135 E>A No ClinGen
ExAC
gnomAD
CA366001570
rs748594378
135 E>V No ClinGen
ExAC
gnomAD
CA4042708
rs772693938
137 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA4042707
rs772693938
137 V>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 138 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745341969
CA4042709
141 G>E No ClinGen
ExAC
gnomAD
CA366001739
rs1467925237
143 Q>H No ClinGen
TOPMed
gnomAD
CA149912707
rs947800767
143 Q>K No ClinGen
TOPMed
rs993902305
CA149913289
144 V>A No ClinGen
Ensembl
CA4042729
rs372765071
145 Q>R No ClinGen
ESP
ExAC
gnomAD
rs1214743537
CA366002634
148 D>E No ClinGen
gnomAD
rs747468426
CA4042730
149 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1185368495
CA366002659
152 I>T No ClinGen
gnomAD
TCGA novel 152 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs148645680
CA4042732
153 D>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1582735900
CA366002681
155 L>F No ClinGen
Ensembl
rs78098524
CA4042733
156 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4042734
rs78098524
156 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs202099709
CA4042735
159 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA149913311
rs896003323
159 R>W No ClinGen
TOPMed
gnomAD
rs1582735914
CA366002709
160 G>A No ClinGen
Ensembl
CA4042736
rs761563128
160 G>R No ClinGen
ExAC
gnomAD
rs965002666
CA149913323
161 V>A No ClinGen
Ensembl
rs1282877905
CA366002728
163 R>S No ClinGen
TOPMed
gnomAD
rs1413384215
CA366002742
165 S>L No ClinGen
gnomAD
rs1351377618
CA366002745
166 N>Y No ClinGen
gnomAD
rs1444433787
CA366002755
167 Y>C No ClinGen
TOPMed
gnomAD
CA366002764
rs1400964686
168 T>I No ClinGen
TOPMed
CA149913345
rs1023533034
169 L>P No ClinGen
TOPMed
rs775212681
CA4042740
170 P>R No ClinGen
ExAC
gnomAD
rs375497080
CA4042739
170 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1223147089
CA366002799
174 S>G No ClinGen
gnomAD
rs1562272226
CA366002807
175 M>V No ClinGen
Ensembl
TCGA novel 176 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 176 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA149913379
rs753886714
178 S>P No ClinGen
TOPMed
gnomAD
CA4042742
rs564649407
179 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4042743
rs373895852
181 R>* No ClinGen
ExAC
gnomAD
CA366002846
rs1183286450
181 R>Q No ClinGen
gnomAD
rs752928540
CA4042744
182 D>N No ClinGen
ExAC
gnomAD
rs1187206442
CA366002858
183 S>G No ClinGen
TOPMed
rs758714565
CA4042745
183 S>N No ClinGen
ExAC
gnomAD
CA149913397
rs1000417578
184 D>V No ClinGen
TOPMed
CA4042746
rs568589964
185 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs747382393
CA4042748
188 T>I No ClinGen
ExAC
gnomAD
CA4042747
rs747382393
188 T>N No ClinGen
ExAC
gnomAD
CA149913422
rs957437135
189 L>P No ClinGen
Ensembl
CA366002960
rs1187747354
192 L>I No ClinGen
gnomAD
CA149913481
rs988930993
194 K>N No ClinGen
gnomAD
rs1411894477
CA366003009
194 K>R No ClinGen
gnomAD
TCGA novel 196 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4042769
rs781517162
199 S>I No ClinGen
ExAC
TOPMed
gnomAD
CA366003197
rs1326818506
200 S>L No ClinGen
gnomAD
TCGA novel 200 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4042770
rs750899252
204 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs113405611
CA149913788
206 Q>* No ClinGen
Ensembl
rs568421688
CA4042771
206 Q>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4042773
rs747726414
207 Y>C No ClinGen
ExAC
gnomAD
CA4042774
rs771702613
209 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs777455778
CA4042775
210 R>G No ClinGen
ExAC
gnomAD
rs1562272396
CA366003354
213 E>K No ClinGen
Ensembl
TCGA novel 215 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA366003413
rs1582736317
218 E>K No ClinGen
Ensembl
TCGA novel 221 L>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4042777
rs151291405
223 G>R No ClinGen
ESP
ExAC
CA366003469
rs1351916019
224 K>E No ClinGen
TOPMed
gnomAD
rs759458853
CA4042779
231 R>K No ClinGen
ExAC
gnomAD
rs1463109159
CA366003533
232 A>E No ClinGen
TOPMed
CA4042781
rs775706393
233 E>G No ClinGen
ExAC
gnomAD
CA4042782
rs763183200
234 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1325133603
CA366003590
236 S>F No ClinGen
TOPMed
gnomAD
rs751844499
CA4042784
237 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs1383681828
CA366003620
239 K>E No ClinGen
gnomAD
CA366004047
rs1479693745
243 Q>H No ClinGen
gnomAD
CA149915180
rs1054260366
244 W>C No ClinGen
TOPMed
rs140562734
CA4042812
244 W>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs756928537
CA4042813
245 M>T No ClinGen
ExAC
gnomAD
rs780764319
CA4042814
246 E>G No ClinGen
ExAC
gnomAD
CA4042815
rs1137086
247 K>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA366004210
rs1284383626
250 K>E No ClinGen
TOPMed
rs1446868688
CA366004264
251 D>E No ClinGen
TOPMed
CA366004244
rs756008447
251 D>H No ClinGen
ExAC
gnomAD
CA4042816
rs756008447
251 D>N No ClinGen
ExAC
gnomAD
rs1460005370
CA366004322
255 F>S No ClinGen
gnomAD
CA366004341
rs1582737038
256 W>* No ClinGen
Ensembl
rs1330120127
CA366004352
256 W>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA4042817
rs780022994
257 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA149915215
rs763195989
258 N>S No ClinGen
Ensembl
CA4042819
rs369466491
259 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA366004445
rs1406808090
260 F>L No ClinGen
TOPMed
CA366004449
rs1406808090
260 F>V No ClinGen
TOPMed
CA4042820
rs774486657
260 F>Y No ClinGen
ExAC
gnomAD
CA4042821
rs748236590
262 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA149915285
rs998033226
264 F>L No ClinGen
TOPMed
rs61740595
CA149915324
268 N>T No ClinGen
Ensembl
CA4042825
rs760917588
270 M>I No ClinGen
ExAC
gnomAD
CA4042824
rs773349705
270 M>V No ClinGen
ExAC
gnomAD
rs577606517
CA149915380
271 V>M No ClinGen
1000Genomes
TCGA novel 273 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA366004822
rs1250176339
275 T>I No ClinGen
TOPMed
TCGA novel 276 G>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766681110
CA366004830
CA4042826
276 G>R No ClinGen
ExAC
gnomAD
rs1488032695
CA366004858
277 A>E No ClinGen
gnomAD
CA149915403
rs776994605
280 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs776994605
CA4042827
280 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA366004922
rs1582737112
281 I>V No ClinGen
Ensembl
CA4042828
rs533765799
282 T>I No ClinGen
1000Genomes
ExAC
gnomAD
rs1289590485
CA366004960
283 I>N No ClinGen
TOPMed
CA366004955
rs1322646109
283 I>V No ClinGen
TOPMed
TCGA novel 284 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA366004993
rs1244289650
285 K>E No ClinGen
TOPMed
CA366005017
rs1356821011
286 V>G No ClinGen
TOPMed
CA149915431
rs751065479
286 V>L No ClinGen
ExAC
rs751065479
CA4042830
286 V>M No ClinGen
ExAC
rs1324462711
CA366005090
291 S>T No ClinGen
gnomAD
CA366005122
rs1349846296
292 E>D No ClinGen
gnomAD
CA149915495
rs984943233
293 Y>H No ClinGen
TOPMed
CA366006740
rs1313710024
298 Q>* No ClinGen
gnomAD
rs775901745
CA366006753
299 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA4042851
rs763543253
302 V>M No ClinGen
ExAC
gnomAD
CA4042854
rs141208211
304 V>D No ClinGen
ESP
ExAC
gnomAD
CA4042853
rs376204256
304 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4042855
rs766194984
305 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs73781243
CA4042857
306 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs753666762
CA4042856
306 P>S No ClinGen
ExAC
gnomAD
rs1280566672
CA366006838
307 V>M No ClinGen
gnomAD
TCGA novel 308 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1185110865
CA366006860
309 A>G No ClinGen
gnomAD
CA149921949
rs924370563
309 A>T No ClinGen
TOPMed
gnomAD
rs778803132
CA149921950
310 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA4042858
rs778803132
310 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs752532394
CA4042860
311 N>D No ClinGen
ExAC
gnomAD
CA366006880
rs1460769841
311 N>S No ClinGen
TOPMed
rs1379795000
CA366006895
313 Y>C No ClinGen
TOPMed
CA366006891
rs1273492020
313 Y>H No ClinGen
gnomAD
CA366006918
rs1419449209
317 P>S No ClinGen
gnomAD
rs777766635
CA4042863
322 E>V No ClinGen
ExAC
gnomAD
CA366006978
rs1433095113
325 E>G No ClinGen
gnomAD
CA366007003
rs1433413325
328 T>I No ClinGen
TOPMed
CA4042866
rs781439058
330 I>F No ClinGen
ExAC
gnomAD
rs1562274537
CA366007015
330 I>T No ClinGen
Ensembl

No associated diseases with Q9NU53

4 regional properties for Q9NU53

Type Name Position InterPro Accession
domain Aminoacyl-tRNA synthetase, class II (G/ P/ S/T) 240 - 415 IPR002314
domain Aminoacyl-tRNA synthetase, class II 177 - 425 IPR006195
domain Serine-tRNA synthetase, type1, N-terminal 1 - 110 IPR015866
domain Serine-tRNA ligase catalytic core domain 123 - 432 IPR033729

Functions

Description
EC Number
Subcellular Localization
  • Membrane ; Single-pass type I membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

1 GO annotations of cellular component

Name Definition
integral component of membrane The component of a 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.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

No GO annotations of biological process

Name Definition
No GO annotations for biological process

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MEGAPPGSLA LRLLLFVALP ASGWLTTGAP EPPPLSGAPQ DGIRINVTTL KDDGDISKQQ
70 80 90 100 110 120
VVLNITYESG QVYVNDLPVN SGVTRISCQT LIVKNENLEN LEEKEYFGIV SVRILVHEWP
130 140 150 160 170 180
MTSGSSLQLI VIQEEVVEID GKQVQQKDVT EIDILVKNRG VLRHSNYTLP LEESMLYSIS
190 200 210 220 230 240
RDSDILFTLP NLSKKESVSS LQTTSQYLIR NVETTVDEDV LPGKLPETPL RAEPPSSYKV
250 260 270 280 290 300
MCQWMEKFRK DLCRFWSNVF PVFFQFLNIM VVGITGAAVV ITILKVFFPV SEYKGILQLD
310 320
KVDVIPVTAI NLYPDGPEKR AENLEDKTCI