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 Q7L8W6

Entry ID Method Resolution Chain Position Source
AF-Q7L8W6-F1 Predicted AlphaFoldDB

219 variants for Q7L8W6

Variant ID(s) Position Change Description Diseaes Association Provenance
CA391923433
rs1254953034
2 R>S No ClinGen
gnomAD
CA7468672
rs747539785
2 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs780683833
CA7468671
3 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA391923422
rs1458861247
4 A>E No ClinGen
TOPMed
rs1485407671
CA391923419
5 A>P No ClinGen
TOPMed
gnomAD
rs1485407671
CA391923418
5 A>S No ClinGen
TOPMed
gnomAD
CA391923415
rs1201353075
5 A>V No ClinGen
Ensembl
CA268978564
rs1053713276
6 L>P No ClinGen
Ensembl
CA268978565
rs946682046
6 L>V No ClinGen
TOPMed
rs1049464077
CA268978562
7 I>M No ClinGen
TOPMed
gnomAD
rs745951697
CA7468669
8 S>G No ClinGen
ExAC
gnomAD
CA391923382
rs1248163478
9 G>D No ClinGen
gnomAD
rs1595457482
CA391923372
11 K>E No ClinGen
Ensembl
rs1566946434
CA391923364
12 D>N No ClinGen
Ensembl
CA7468655
rs761088772
13 S>R No ClinGen
ExAC
gnomAD
rs1269112061
CA391923353
13 S>T No ClinGen
gnomAD
CA7468654
rs747627790
15 Y>D No ClinGen
ExAC
TOPMed
gnomAD
rs1230567377
CA391923328
16 N>K No ClinGen
gnomAD
CA391923321
rs1418267053
17 M>I No ClinGen
gnomAD
CA391923322
rs1161756263
17 M>R No ClinGen
TOPMed
rs933028569
CA391923315
18 M>K No ClinGen
gnomAD
CA268978131
rs933028569
18 M>T No ClinGen
gnomAD
rs1387671256
CA391923317
18 M>V No ClinGen
TOPMed
CA391923308
rs1297034395
19 Q>* No ClinGen
gnomAD
CA391923293
rs1333060648
21 I>V No ClinGen
gnomAD
CA7468652
rs141206143
22 A>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7468651
rs774490655
23 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA391923277
rs1358067932
24 G>R No ClinGen
TOPMed
rs943536618
CA391923249
27 I>M No ClinGen
TOPMed
gnomAD
rs148139655
CA391923247
28 V>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7468649
rs148139655
28 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs777953049
CA7468648
30 L>S No ClinGen
ExAC
gnomAD
rs1383499100
CA391923228
31 A>G No ClinGen
TOPMed
CA7468647
rs755947387
31 A>T No ClinGen
ExAC
gnomAD
rs373612094
CA391923197
36 A>D No ClinGen
TOPMed
gnomAD
CA268978128
rs373612094
36 A>G No ClinGen
TOPMed
gnomAD
rs1007187617
CA268978127
39 Q>L No ClinGen
TOPMed
rs1030054031
CA268978126
40 V>M No ClinGen
TOPMed
gnomAD
CA7468636
rs34907758
41 G>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7468635
VAR_031403
RCV000957254
rs34907758
41 G>E No ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA391923142
rs1444182293
43 D>A No ClinGen
gnomAD
CA7468634
rs774673219
44 E>G No ClinGen
ExAC
gnomAD
rs981952887
CA268977735
44 E>K No ClinGen
Ensembl
rs1200091335
CA391923131
45 L>P No ClinGen
gnomAD
CA391923123
rs1375428907
46 D>E No ClinGen
TOPMed
rs143353998
CA7468633
46 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA268977734
rs866968402
49 M>I No ClinGen
Ensembl
rs749336463
CA7468632
49 M>T No ClinGen
ExAC
gnomAD
rs1229415944
CA391923095
50 Y>C No ClinGen
gnomAD
rs112008207
CA268977733
50 Y>H No ClinGen
Ensembl
CA391923090
rs773489733
51 Q>* No ClinGen
ExAC
gnomAD
rs773489733
CA7468631
51 Q>K No ClinGen
ExAC
gnomAD
rs1239205170
CA391923083
52 T>A No ClinGen
TOPMed
gnomAD
rs769995089
CA7468630
52 T>I No ClinGen
ExAC
gnomAD
CA391923056
rs1468903880
56 H>R No ClinGen
gnomAD
CA391923057
rs1566945084
56 H>Y No ClinGen
Ensembl
CA391923051
rs1403469095
57 A>T No ClinGen
gnomAD
CA391923044
rs1161056076
58 I>V No ClinGen
gnomAD
CA391923032
COSM960946
rs1334637909
COSM960947
59 D>E Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA7468627
rs768297939
60 L>* No ClinGen
ExAC
gnomAD
rs747013601
CA7468626
61 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs747013601
CA391923020
61 Y>F No ClinGen
ExAC
TOPMed
gnomAD
rs779821700
CA7468625
64 A>T No ClinGen
ExAC
gnomAD
rs1238060633
CA391922995
65 M>T No ClinGen
gnomAD
rs757990199
CA7468624
65 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1299658976
CA391922982
67 L>F No ClinGen
TOPMed
TCGA novel 67 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 69 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1183083757
CA391922962
70 Y>C No ClinGen
gnomAD
rs749935491
CA7468623
71 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA7468622
rs778508898
71 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs371901885
CA7468620
72 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs374490007
CA7468619
COSM1640214
COSM1640213
72 R>Q stomach [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1282670869
CA391922939
74 I>M No ClinGen
gnomAD
CA391922944
rs1310540683
74 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA391922928
rs1459814740
76 G>E No ClinGen
gnomAD
rs1324909057
CA391922931
76 G>R No ClinGen
TOPMed
gnomAD
rs1284215433
CA391922894
81 T>A No ClinGen
TOPMed
gnomAD
TCGA novel 86 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs113342947
CA268977731
87 K>R No ClinGen
Ensembl
CA7468615
rs763082163
88 C>R No ClinGen
ExAC
gnomAD
CA7468614
rs773296974
88 C>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs868488195
CA268977730
90 G>A No ClinGen
Ensembl
TCGA novel 91 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA391922817
rs1156669248
92 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 94 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762055995
CA7468612
96 L>F No ClinGen
ExAC
gnomAD
rs370450320
CA268977728
103 V>G No ClinGen
ESP
TOPMed
rs765990539
CA268977729
103 V>L No ClinGen
Ensembl
CA391922120
rs1234610588
108 E>D No ClinGen
TOPMed
CA268968655
rs1011898386
COSM554958
108 E>K lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs781364288
CA7468533
108 E>V No ClinGen
ExAC
TOPMed
gnomAD
rs755257307
CA7468531
110 E>K No ClinGen
ExAC
gnomAD
rs751794681
CA7468529
112 I>M No ClinGen
ExAC
gnomAD
TCGA novel 116 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1393382098
CA391922063
117 I>M No ClinGen
gnomAD
CA391922068
rs1380917286
117 I>V No ClinGen
gnomAD
rs766114531
CA7468528
121 Y>C No ClinGen
ExAC
gnomAD
CA268968654
rs201383115
123 R>C No ClinGen
1000Genomes
TOPMed
gnomAD
CA7468526
rs146910158
123 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7468525
rs750370056
124 I>V No ClinGen
ExAC
gnomAD
rs757556558
CA7468524
125 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1450889968
CA391922014
125 R>L No ClinGen
TOPMed
gnomAD
CA391922016
rs1450889968
125 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1373320456
CA391922013
126 V>M No ClinGen
gnomAD
rs761595092
CA7468523
128 N>S No ClinGen
ExAC
gnomAD
CA391921969
rs1407801319
130 C>S No ClinGen
TOPMed
gnomAD
CA391921970
rs1407801319
130 C>Y No ClinGen
TOPMed
gnomAD
rs767186937
CA7468495
131 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA391921960
rs1176839699
131 K>N No ClinGen
TOPMed
gnomAD
rs1566914433
CA391921949
133 L>F No ClinGen
Ensembl
rs759054480
CA7468492
136 Q>* No ClinGen
ExAC
TOPMed
gnomAD
CA268968209
rs201959314
136 Q>H No ClinGen
Ensembl
rs1179774655
CA391921914
138 L>F No ClinGen
TOPMed
gnomAD
rs1444301622
CA391921910
139 A>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1243939129
CA391921903
140 Y>C No ClinGen
gnomAD
CA391921877
rs930768927
143 Q>H No ClinGen
TOPMed
gnomAD
TCGA novel 143 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1234218775
CA391921845
147 E>D No ClinGen
TOPMed
CA7468490
rs770014356
149 L>F No ClinGen
ExAC
gnomAD
rs920672304
CA268968206
152 E>D No ClinGen
TOPMed
gnomAD
rs748690837
CA7468489
153 M>I No ClinGen
ExAC
gnomAD
rs867195336
CA268968205
154 I>M No ClinGen
TOPMed
rs1455563612
CA391921783
157 N>D No ClinGen
TOPMed
CA7468486
rs533235178
158 I>F No ClinGen
1000Genomes
ExAC
gnomAD
rs1174161687
CA391921774
158 I>T No ClinGen
TOPMed
rs533235178
CA7468485
158 I>V No ClinGen
1000Genomes
ExAC
gnomAD
CA7468484
rs779936508
159 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA7468483
rs758649328
159 Q>R No ClinGen
ExAC
gnomAD
rs990622214
CA268968204
161 M>I No ClinGen
TOPMed
gnomAD
CA7468480
rs757023821
161 M>K No ClinGen
ExAC
gnomAD
rs750653114
CA7468482
161 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs757023821
CA391921758
161 M>T No ClinGen
ExAC
gnomAD
CA7468481
rs750653114
161 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA7468479
rs370800281
162 I>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA391921728
rs1302860856
165 V>G No ClinGen
TOPMed
rs565863034
CA7468478
168 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA391922280
rs1297244652
171 D>G No ClinGen
gnomAD
rs1400157608
CA391922283
171 D>N No ClinGen
TOPMed
rs1273260594
CA391922276
172 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs142323760
CA7468456
173 D>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs142323760
CA7468457
173 D>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA268963723
rs887731679
173 D>H No ClinGen
TOPMed
CA391922252
rs1337174800
175 H>L No ClinGen
gnomAD
rs1361003096
CA391922257
175 H>Y No ClinGen
gnomAD
rs1415279658
CA391922233
178 K>R No ClinGen
gnomAD
rs1316183542
CA391922226
179 T>I No ClinGen
TOPMed
rs1366141217
CA391922229
179 T>P No ClinGen
gnomAD
rs754256854
CA7468452
180 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA391922221
rs754256854
180 L>Q No ClinGen
ExAC
TOPMed
gnomAD
CA391922222
rs1302588681
180 L>V No ClinGen
gnomAD
rs761263253
CA7468450
181 D>V No ClinGen
ExAC
gnomAD
CA268963722
rs978396059
183 M>K No ClinGen
Ensembl
rs775834601
CA7468449
183 M>V No ClinGen
ExAC
gnomAD
CA391922196
rs1417732927
184 E>Q No ClinGen
TOPMed
gnomAD
rs965501893
CA268963721
185 P>L No ClinGen
TOPMed
rs759530818
CA7468447
186 Y>C No ClinGen
ExAC
gnomAD
CA268963720
rs1006902430
188 I>K No ClinGen
Ensembl
rs199528007
CA7468446
188 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7468445
rs771154609
189 E>K No ClinGen
ExAC
gnomAD
COSM1707988
rs1454773017
CA391921691
190 L>F skin [Cosmic] No ClinGen
cosmic curated
TOPMed
rs1167481887
CA391921680
192 K>E No ClinGen
TOPMed
CA7468430
rs149996784
193 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs760030551
CA7468429
194 Y>C No ClinGen
ExAC
gnomAD
CA7468427
rs770958547
195 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA268960488
rs866750356
199 C>R No ClinGen
Ensembl
rs763186764
CA7468426
199 C>Y No ClinGen
ExAC
gnomAD
rs773401816
CA7468425
200 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs769674669
CA7468424
201 E>K No ClinGen
ExAC
gnomAD
rs953949304
CA268960487
202 G>S No ClinGen
Ensembl
rs1167780757
CA391921601
204 E>G No ClinGen
TOPMed
gnomAD
rs974276367
CA268960486
207 T>I No ClinGen
Ensembl
CA7468421
rs768494184
208 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs987622986
CA268960485
213 P>A No ClinGen
TOPMed
gnomAD
rs765558502
CA7468418
213 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA7468419
rs765558502
213 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs750137666
CA7468417
216 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA391921500
rs1267997569
219 I>V No ClinGen
TOPMed
rs1338930124
CA391921487
221 V>M No ClinGen
TOPMed
gnomAD
rs139330319
CA7468393
222 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1037836040
CA268959528
225 E>D No ClinGen
Ensembl
rs750519127
CA7468390
227 V>L No ClinGen
ExAC
gnomAD
CA391921420
rs1487273441
229 H>R No ClinGen
TOPMed
gnomAD
rs1358868996
CA391921403
232 D>N No ClinGen
gnomAD
CA7468386
rs763833562
233 A>T No ClinGen
ExAC
gnomAD
rs10519996
CA391921373
236 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs10519996
CA7468383
VAR_031404
236 P>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA7468384
rs775626252
236 P>S No ClinGen
ExAC
gnomAD
COSM1678347
CA7468382
rs745733884
239 Y>C prostate [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA7468381
rs547000751
241 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs764647898
CA7468379
241 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA7468380
rs764647898
241 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs777452839
CA7468378
242 F>L No ClinGen
ExAC
gnomAD
rs1463199774
CA391921321
245 L>* No ClinGen
gnomAD
rs1222855547
CA391921309
246 H>Q No ClinGen
TOPMed
CA391921314
rs1373373096
246 H>Y No ClinGen
gnomAD
CA391921301
rs755403757
248 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs755403757
CA7468375
248 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs780431810
CA391921266
251 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs780431810
CA7468352
251 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA7468351
rs370898941
252 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs974588124
CA268959401
253 S>L No ClinGen
TOPMed
gnomAD
rs1264097183
CA391921257
253 S>P No ClinGen
TOPMed
CA391921247
rs1307909085
254 V>M No ClinGen
TOPMed
gnomAD
rs1384573771
CA391921237
255 P>H No ClinGen
gnomAD
CA391921238
rs1237439915
255 P>S No ClinGen
TOPMed
gnomAD
CA7468349
rs779468977
257 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA268959399
rs965195203
259 R>T No ClinGen
TOPMed
rs1320201496
CA391921196
260 T>I No ClinGen
gnomAD
rs1320201496
CA391921197
260 T>K No ClinGen
gnomAD
CA391921198
rs1358557705
260 T>S No ClinGen
TOPMed
rs757335464
CA7468348
261 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA391921171
rs1446627656
263 Y>F No ClinGen
gnomAD
CA7468346
rs200030258
264 I>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1181546190
CA391921167
264 I>V No ClinGen
gnomAD
rs1445314088
CA391921155
265 Y>C No ClinGen
TOPMed
CA391921158
rs1595506594
265 Y>H No ClinGen
Ensembl
CA391921146
rs1244262370
266 N>S No ClinGen
gnomAD
rs1285641693
CA391921127
268 F>L No ClinGen
TOPMed

No associated diseases with Q7L8W6

1 regional properties for Q7L8W6

Type Name Position InterPro Accession
domain AP2/ERF domain 26 - 90 IPR001471

Functions

Description
EC Number 6.3.1.14 Acid--ammonia (or amine) ligases (amide synthases)
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nucleolus A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.

2 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
diphthine-ammonia ligase activity Catalysis of the reaction: ATP + diphthine + NH(4)(+) = ADP + diphthamide + H(+) + phosphate.

1 GO annotations of biological process

Name Definition
peptidyl-diphthamide biosynthetic process from peptidyl-histidine The modification of peptidyl-histidine to 2'-(3-carboxamido-3-(trimethylammonio)propyl)-L-histidine, known as diphthamide, found in translation elongation factor EF-2. The process occurs in eukaryotes and archaea but not eubacteria.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MRVAALISGG KDSCYNMMQC IAAGHQIVAL ANLRPAENQV GSDELDSYMY QTVGHHAIDL
70 80 90 100 110 120
YAEAMALPLY RRTIRGRSLD TRQVYTKCEG DEVEDLYELL KLVKEKEEVE GISVGAILSD
130 140 150 160 170 180
YQRIRVENVC KRLNLQPLAY LWQRNQEDLL REMISSNIQA MIIKVAALGL DPDKHLGKTL
190 200 210 220 230 240
DQMEPYLIEL SKKYGVHVCG EGGEYETFTL DCPLFKKKII VDSSEVVIHS ADAFAPVAYL
250 260
RFLELHLEDK VSSVPDNYRT SNYIYNF