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

2 structures for Q8N1Q8

Entry ID Method Resolution Chain Position Source
4AE7 X-ray 145 A A 35-247 PDB
AF-Q8N1Q8-F1 Predicted AlphaFoldDB

205 variants for Q8N1Q8

Variant ID(s) Position Change Description Diseaes Association Provenance
CA341998787
rs1401329968
2 I>T No ClinGen
TOPMed
CA1096442
rs754356775
4 R>G No ClinGen
ExAC
gnomAD
CA1096441
rs778320508
4 R>T No ClinGen
ExAC
gnomAD
rs756474422
CA1096440
5 C>R No ClinGen
ExAC
gnomAD
rs1280925934
CA341998743
5 C>W No ClinGen
TOPMed
CA341998727
rs1490408010
6 F>L No ClinGen
gnomAD
rs1216566866
CA341998705
8 V>L No ClinGen
gnomAD
rs1355101534
CA341998688
9 A>V No ClinGen
gnomAD
rs1330150225
CA341998677
10 A>V No ClinGen
TOPMed
rs765871696
CA1096435
13 G>A No ClinGen
ExAC
rs200511087
CA30489013
13 G>C No ClinGen
TOPMed
rs200511087
CA30489020
13 G>R No ClinGen
TOPMed
rs1339604899
CA341998622
14 H>R No ClinGen
gnomAD
CA1096434
rs762511855
15 H>N No ClinGen
ExAC
gnomAD
rs773075332
CA1096433
16 R>S No ClinGen
ExAC
gnomAD
CA30488993
rs914570893
17 G>D No ClinGen
Ensembl
rs761734311
CA1096431
18 L>F No ClinGen
ExAC
gnomAD
CA341998571
rs1286716575
18 L>H No ClinGen
TOPMed
CA341998554
rs1218931464
20 E>Q No ClinGen
TOPMed
rs772424639
CA341998533
21 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA1096430
rs776521336
21 A>T No ClinGen
ExAC
gnomAD
CA1096429
rs772424639
21 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1096428
rs370864082
23 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs368052106
CA1096426
23 R>H No ClinGen
ESP
TCGA novel 24 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779178086
CA1096425
27 R>T No ClinGen
ExAC
TOPMed
gnomAD
rs1002042962
CA30488936
28 L>V No ClinGen
TOPMed
gnomAD
CA341998435
rs1480664343
29 N>K No ClinGen
gnomAD
rs770961173
CA1096424
29 N>T No ClinGen
ExAC
gnomAD
TCGA novel 30 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs563588343
CA30488913
31 A>D No ClinGen
Ensembl
rs749355211
CA1096423
31 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1196778554
CA341998411
32 S>T No ClinGen
gnomAD
rs1381508585
CA341998374
34 F>L No ClinGen
TOPMed
rs1572063630
CA341998351
36 S>F No ClinGen
Ensembl
rs1420912776
CA341998340
37 S>F No ClinGen
TOPMed
rs368050120
CA30488906
38 T>A No ClinGen
ESP
TOPMed
gnomAD
rs1197055370
CA341998313
39 D>E No ClinGen
TOPMed
gnomAD
rs778172770
CA1096422
40 S>A No ClinGen
ExAC
gnomAD
rs892146575
CA30488878
41 M>I No ClinGen
TOPMed
gnomAD
rs61754919
CA341998295
41 M>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs61754919
CA1096421
41 M>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs748722568
CA1096400
43 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA1096399
rs781656232
46 L>S No ClinGen
ExAC
gnomAD
rs1254745598
CA341997792
47 P>T No ClinGen
gnomAD
rs1183673008
CA341997784
48 E>K No ClinGen
gnomAD
CA341997723
rs1196692582
52 L>M No ClinGen
gnomAD
rs755385477
CA1096398
53 K>* No ClinGen
ExAC
TOPMed
gnomAD
rs16833597
VAR_031764
CA1096397
55 Y>S No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1286811532
CA341997668
56 A>T No ClinGen
gnomAD
CA341997651
rs1203575803
57 L>F No ClinGen
gnomAD
rs758022985
CA1096395
57 L>P No ClinGen
ExAC
gnomAD
rs749918467
CA1096394
58 P>H No ClinGen
ExAC
gnomAD
CA341997635
rs150019062
59 N>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1384896046
CA341997629
59 N>S No ClinGen
gnomAD
CA1096393
rs150019062
59 N>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs199774275
CA30487896
60 A>V No ClinGen
1000Genomes
gnomAD
rs1052365564
CA30487887
61 S>G No ClinGen
TOPMed
rs764088633
CA1096390
62 W>* No ClinGen
ExAC
TOPMed
gnomAD
CA1096391
rs753871648
62 W>R No ClinGen
ExAC
gnomAD
CA341997593
rs764088633
62 W>S No ClinGen
ExAC
TOPMed
gnomAD
rs1320084272
CA341997559
64 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
TCGA novel 64 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766522055
CA1096387
65 D>A No ClinGen
ExAC
gnomAD
TCGA novel 65 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 66 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1096386
rs763169938
66 M>T No ClinGen
ExAC
gnomAD
rs113162117
COSM108143
CA1096385
68 S>N skin [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA341997486
rs1371834537
69 L>P No ClinGen
gnomAD
COSM895948
CA341997452
rs1244127502
72 E>* Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1400261611
CA341997438
73 F>L No ClinGen
gnomAD
rs200585408
CA1096382
75 E>G No ClinGen
ExAC
gnomAD
CA1096381
rs769116249
76 K>N No ClinGen
ExAC
gnomAD
CA341997360
rs747359317
78 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA341997333
rs775909654
80 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA1096377
rs558957960
81 G>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs558957960
CA1096378
81 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1096376
rs778682602
82 W>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs756863692
CA1096375
86 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs753357280
CA1096374
91 N>K No ClinGen
ExAC
gnomAD
CA1096373
rs35299454
93 D>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 94 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1096370
rs752438289
96 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA1096371
rs376299585
96 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1096369
rs767415506
97 G>E No ClinGen
ExAC
gnomAD
rs965131429
CA30487697
98 L>I No ClinGen
Ensembl
rs1176660509
CA341997080
102 S>P No ClinGen
TOPMed
gnomAD
CA1096368
rs370211306
106 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs773472992
CA1096367
108 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA341997021
rs773472992
108 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA341997013
rs1201803421
109 D>N No ClinGen
gnomAD
rs765469169
CA1096349
110 K>I No ClinGen
ExAC
gnomAD
rs765469169
CA30486875
110 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA341996899
rs765469169
110 K>T No ClinGen
ExAC
gnomAD
rs761969999
CA1096348
111 G>D No ClinGen
ExAC
gnomAD
CA341996862
rs1306496967
113 C>Y No ClinGen
gnomAD
CA30486857
rs929391198
114 R>C No ClinGen
TOPMed
gnomAD
CA1096347
COSM1334049
rs753923316
114 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs753923316
CA341996846
114 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs374861686
CA1096346
115 I>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA341996842
rs374861686
115 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1279128602
CA341996781
119 C>Y No ClinGen
TOPMed
rs1160041399
CA341996740
122 V>M No ClinGen
gnomAD
CA1096342
rs569926934
123 E>K No ClinGen
1000Genomes
ExAC
gnomAD
rs561316028
CA1096340
129 Y>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA341996647
rs1178112249
129 Y>H No ClinGen
gnomAD
CA341996614
rs1243742058
131 I>T No ClinGen
TOPMed
gnomAD
rs1183344622
CA341996566
134 Q>H No ClinGen
gnomAD
rs770712505
CA1096339
135 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA1096338
rs749015504
137 Q>K No ClinGen
ExAC
gnomAD
CA1096337
rs777555505
137 Q>P No ClinGen
ExAC
gnomAD
CA1096336
rs769395039
139 K>M No ClinGen
ExAC
gnomAD
CA1096333
rs200369753
140 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1416730478
CA341996504
140 S>P No ClinGen
TOPMed
CA1096331
rs754826520
141 V>I No ClinGen
ExAC
gnomAD
rs751371464
CA1096330
143 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA1096328
rs758188940
144 F>L No ClinGen
ExAC
gnomAD
CA1096329
rs548003244
144 F>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs199737525
CA30486610
145 Q>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
gnomAD
CA341996475
rs199737525
145 Q>E No ClinGen
1000Genomes
gnomAD
CA341996467
rs1425421915
146 P>A No ClinGen
TOPMed
gnomAD
rs995356648
CA30486609
146 P>L No ClinGen
TOPMed
CA341996466
rs1425421915
146 P>S No ClinGen
TOPMed
gnomAD
rs754104368
CA1096327
147 G>S No ClinGen
ExAC
gnomAD
rs756246769
CA1096325
148 S>F No ClinGen
ExAC
gnomAD
rs1394268152
CA341996446
149 Y>* No ClinGen
TOPMed
rs1461794961
CA341996451
149 Y>H No ClinGen
TOPMed
rs752667405
CA1096323
150 L>P No ClinGen
ExAC
gnomAD
rs768080665
CA1096322
151 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA30486528
rs1025110658
153 P>H No ClinGen
Ensembl
rs200336579
CA1096320
153 P>S No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 154 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1336475178
CA341996423
154 P>S No ClinGen
TOPMed
rs766908095
CA1096319
155 G>A No ClinGen
ExAC
gnomAD
rs755094159
CA1096303
156 F>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1096301
rs763444720
158 H>Q No ClinGen
ExAC
gnomAD
CA1096302
rs752161833
158 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs543970440
CA341996347
159 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs543970440
CA1096299
159 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs991003578
CA30484199
160 G>E No ClinGen
TOPMed
rs541469397
CA1096297
160 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs776346507
CA1096296
161 S>A No ClinGen
ExAC
gnomAD
CA341996312
rs1347639345
162 L>P No ClinGen
gnomAD
rs768216646
CA1096295
163 A>E No ClinGen
ExAC
gnomAD
rs1299272134
CA341996308
163 A>T No ClinGen
gnomAD
rs1389890173
CA341996284
165 M>V No ClinGen
TOPMed
gnomAD
rs1572060338
CA341996261
166 M>K No ClinGen
Ensembl
CA1096292
rs199853939
168 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1096293
rs199853939
168 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1096291
rs745686412
169 T>N No ClinGen
ExAC
gnomAD
CA1096290
rs778504049
175 F>L No ClinGen
ExAC
gnomAD
rs748377229
CA1096288
178 G>A No ClinGen
ExAC
gnomAD
CA1096289
rs370580520
178 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1181002645
CA341996096
179 E>G No ClinGen
gnomAD
TCGA novel 180 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751651455
CA1096285
183 T>P No ClinGen
ExAC
gnomAD
rs1347397398
CA341996034
184 L>P No ClinGen
gnomAD
CA1096284
rs780730775
185 S>R No ClinGen
ExAC
gnomAD
CA1096283
rs758921203
186 L>H No ClinGen
ExAC
gnomAD
rs1032415035
CA30484128
189 R>K No ClinGen
TOPMed
CA1096282
rs750807190
189 R>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA1096281
rs765591109
192 N>H No ClinGen
ExAC
CA1096256
rs767071162
195 P>S No ClinGen
ExAC
gnomAD
CA1096255
COSM895945
rs759063830
196 V>M endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA341995862
rs6587625
197 D>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs6587625
VAR_031765
CA1096254
197 D>G No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs6587625
CA341995863
197 D>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 198 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1096253
rs747232182
199 L>P No ClinGen
ExAC
gnomAD
CA341995840
rs1292625369
200 V>G No ClinGen
gnomAD
rs1228743927
CA341995830
201 V>A No ClinGen
gnomAD
rs1558180060
CA341995837
201 V>I No ClinGen
Ensembl
rs1558180060
CA341995834
201 V>L No ClinGen
Ensembl
CA1096252
rs762679704
202 M>T No ClinGen
ExAC
gnomAD
CA1096250
rs200948412
204 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs200948412
CA1096249
204 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs6587624
CA1096246
VAR_031766
206 L>V No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA1096244
rs138448945
209 I>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs138448945
CA1096243
209 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs961405016
CA30483729
209 I>V No ClinGen
gnomAD
CA1096242
rs749655007
211 D>E No ClinGen
ExAC
gnomAD
rs1431233015
CA341995628
215 Y>* No ClinGen
TOPMed
CA1096241
rs778176144
215 Y>C No ClinGen
ExAC
gnomAD
CA341995616
rs1475973322
216 M>I No ClinGen
gnomAD
CA341995621
rs1558180026
216 M>T No ClinGen
Ensembl
rs756456239
CA1096240
217 S>T No ClinGen
ExAC
gnomAD
CA1096239
COSM1229158
rs368281552
220 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1269621826
CA341995555
221 H>R No ClinGen
gnomAD
rs560208573
CA1096235
CA1096236
224 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1096237
rs754477453
224 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA341995465
rs1284263801
228 V>I No ClinGen
TOPMed
rs1572059833
CA341995445
229 Y>C No ClinGen
Ensembl
rs1227053989
CA341995453
229 Y>H No ClinGen
TOPMed
rs192983700
CA1096231
230 A>D No ClinGen
1000Genomes
ExAC
gnomAD
CA341995415
rs1438035849
231 K>N No ClinGen
TOPMed
gnomAD
CA341995427
rs1274920863
231 K>Q No ClinGen
gnomAD
CA1096230
rs761681491
234 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA341995387
rs761681491
234 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs771090386
CA1096207
238 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs749334518
CA1096206
241 L>V No ClinGen
ExAC
gnomAD
CA341995292
rs1310085837
244 E>K No ClinGen
gnomAD
CA341995280
rs1558179810
245 S>C No ClinGen
Ensembl
rs375477086
CA1096205
246 P>L No ClinGen
ESP
ExAC
TOPMed
CA1096204
rs770237043
247 Q>R No ClinGen
ExAC
gnomAD
CA1096203
rs748526233
248 Q>Q No ClinGen
ExAC
gnomAD

No associated diseases with Q8N1Q8

1 regional properties for Q8N1Q8

Type Name Position InterPro Accession
domain Thioesterase domain 155 - 228 IPR006683

Functions

Description
EC Number 3.1.2.2 Thiolester hydrolases
Subcellular Localization
  • Mitochondrion matrix
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

1 GO annotations of cellular component

Name Definition
mitochondrial matrix The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation.

2 GO annotations of molecular function

Name Definition
myristoyl-CoA hydrolase activity Catalysis of the reaction: myristoyl-CoA + H2O <=> H+ + tetradecanoate + coenzyme A.
palmitoyl-CoA hydrolase activity Catalysis of the reaction: palmitoyl-CoA + H2O = CoA + palmitate.

3 GO annotations of biological process

Name Definition
cardiolipin acyl-chain remodeling Remodeling the acyl chains of premature (de novo synthesized) cardiolipin (1,3-bis(3-phosphatidyl)glycerol), through sequential deacylation and re-acylation reactions, to generate mature cardiolipin containing high-levels of unsaturated fatty acids.
fatty acid metabolic process The chemical reactions and pathways involving fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis.
long-chain fatty-acyl-CoA metabolic process The chemical reactions and pathways involving long-chain fatty-acyl-CoAs, any derivative of coenzyme A in which the sulfhydryl group is in a thioester linkage with a long-chain fatty-acyl group. Long-chain fatty-acyl-CoAs have chain lengths of C13 or more.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MIRRCFQVAA RLGHHRGLLE APRILPRLNP ASAFGSSTDS MFSRFLPEKT DLKDYALPNA
70 80 90 100 110 120
SWCSDMLSLY QEFLEKTKSS GWIKLPSFKS NRDHIRGLKL PSGLAVSSDK GDCRIFTRCI
130 140 150 160 170 180
QVEGQGFEYV IFFQPTQKKS VCLFQPGSYL EGPPGFAHGG SLAAMMDETF SKTAFLAGEG
190 200 210 220 230 240
LFTLSLNIRF KNLIPVDSLV VMDVELDKIE DQKLYMSCIA HSRDQQTVYA KSSGVFLQLQ
LEEESPQ