Q8N1Q8
Gene name |
THEM5 (ACOT15) |
Protein name |
Acyl-coenzyme A thioesterase THEM5 |
Names |
Acyl-CoA thioesterase THEM5, Acyl-coenzyme A thioesterase 15, Thioesterase superfamily member 5 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:284486 |
EC number |
3.1.2.2: Thiolester hydrolases |
Protein Class |
|
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 |
|
|
| 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 |