Q9Y570
Gene name |
PPME1 (PME1, PP2593, PRO0750) |
Protein name |
Protein phosphatase methylesterase 1 |
Names |
PME-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51400 |
EC number |
3.1.1.89: Carboxylic ester 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
4 structures for Q9Y570
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3C5V | X-ray | 200 A | A | 39-386 | PDB |
| 3C5W | X-ray | 280 A | PDB | ||
| 7SOY | EM | 340 A | P | 1-386 | PDB |
| AF-Q9Y570-F1 | Predicted | AlphaFoldDB |
253 variants for Q9Y570
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1409847400 CA381828942 |
3 | A>T | No |
ClinGen gnomAD |
|
|
rs1282062289 CA381828950 |
4 | L>F | No |
ClinGen gnomAD |
|
|
rs764593205 CA6183385 |
5 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1234947884 CA381828975 |
7 | S>R | No |
ClinGen gnomAD |
|
|
rs1256244844 CA381828986 |
9 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA6183386 rs752024417 |
9 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA381828988 rs1256244844 |
9 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA381828989 rs752024417 |
9 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA224528103 rs757643501 |
9 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA381829018 rs1483330250 |
11 | G>A | No |
ClinGen gnomAD |
|
|
CA381829020 rs1483330250 |
11 | G>V | No |
ClinGen gnomAD |
|
|
rs74755631 CA6183389 |
12 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381829031 rs755713025 |
12 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs755713025 CA6183390 |
12 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA6183392 rs763179389 |
15 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA6183393 rs768214869 |
16 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA6183394 rs368008667 |
17 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748048802 CA6183395 |
18 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA224528118 rs748048802 |
18 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs200494233 CA6183398 |
20 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765391880 CA6183399 |
21 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA381829243 rs1225788323 |
22 | S>N | No |
ClinGen gnomAD |
|
|
CA381829272 rs1591002930 |
23 | G>E | No |
ClinGen Ensembl |
|
|
CA6183400 rs775719270 |
23 | G>W | No |
ClinGen ExAC |
|
|
CA6183401 rs762979115 |
24 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA224528145 rs926088219 |
25 | S>T | No |
ClinGen Ensembl |
|
|
CA381829353 rs1411988209 |
28 | G>A | No |
ClinGen TOPMed |
|
| TCGA novel | 28 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381829357 rs1221636206 |
29 | A>T | No |
ClinGen gnomAD |
|
|
rs764113232 CA6183402 |
29 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1389950393 CA381829383 |
30 | K>N | No |
ClinGen Ensembl |
|
|
rs752106296 CA6183403 |
30 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752106296 CA381829372 |
30 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381829401 rs1261236408 |
31 | M>I | No |
ClinGen gnomAD |
|
|
rs1210538113 CA381829396 |
31 | M>T | No |
ClinGen gnomAD |
|
|
CA6183404 rs757727370 |
32 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1258751054 CA381829416 |
33 | M>V | No |
ClinGen TOPMed |
|
|
CA224528161 rs1055937547 |
34 | G>C | No |
ClinGen Ensembl |
|
|
rs1055937547 CA224528158 |
34 | G>R | No |
ClinGen Ensembl |
|
|
CA381822384 rs1327084832 |
35 | P>S | No |
ClinGen gnomAD |
|
|
CA381822407 rs1254581437 |
36 | G>E | No |
ClinGen TOPMed |
|
|
CA224520295 rs749294771 |
37 | R>G | No |
ClinGen Ensembl |
|
|
rs1230341463 CA381822423 |
37 | R>K | No |
ClinGen gnomAD |
|
|
CA6183433 rs766714868 |
39 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199766005 CA6183432 |
39 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1208337187 CA381822511 |
40 | D>H | No |
ClinGen gnomAD |
|
|
rs754675778 CA6183435 |
42 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381822569 rs148853537 |
42 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6183434 rs148853537 |
42 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765150817 CA6183436 |
43 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA381822607 rs1216000807 |
44 | V>L | No |
ClinGen TOPMed |
|
|
rs545915245 CA6183437 |
45 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6183438 rs201971289 |
48 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1160767433 CA381822850 |
51 | E>G | No |
ClinGen gnomAD |
|
|
CA381822863 rs1591034002 |
52 | S>A | No |
ClinGen Ensembl |
|
|
rs1017799427 CA224520313 |
53 | M>V | No |
ClinGen gnomAD |
|
|
rs576331375 CA224520314 |
54 | E>* | No |
ClinGen 1000Genomes |
|
|
CA6183441 rs746920933 |
55 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1413523426 CA381822962 |
55 | D>H | No |
ClinGen gnomAD |
|
|
CA6183439 rs777607423 |
55 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1448489714 CA381823003 |
56 | V>I | No |
ClinGen gnomAD |
|
|
CA224520345 rs928862604 |
57 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA381823067 rs1348545968 |
58 | V>I | No |
ClinGen TOPMed |
|
|
rs781012190 CA6183442 |
63 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA381823288 rs201122913 |
65 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381823278 rs1345039884 |
65 | D>H | No |
ClinGen gnomAD |
|
|
rs201122913 CA6183443 |
65 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 65 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381823643 rs1388079868 |
66 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1565382572 CA381823713 |
68 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA6183467 rs372101043 |
68 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1389957931 CA381823764 |
69 | V>A | No |
ClinGen gnomAD |
|
|
rs1292554959 CA381823781 |
70 | Y>C | No |
ClinGen TOPMed |
|
|
CA6183468 rs375196294 |
70 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6183469 rs369439716 |
72 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381823868 rs1434640663 |
74 | S>P | No |
ClinGen gnomAD |
|
|
rs771482802 CA6183470 |
79 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs777214061 CA6183471 |
83 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381824041 rs1229647312 |
85 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 91 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6183476 COSM195922 rs79972734 |
96 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA224520718 rs79972734 |
96 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA6183486 rs369415883 |
97 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA381829459 rs1330742033 |
98 | A>E | No |
ClinGen gnomAD |
|
|
rs1330742033 CA381829462 |
98 | A>V | No |
ClinGen gnomAD |
|
|
rs757906428 CA6183487 |
101 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6183488 rs372623470 |
101 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA224527455 rs372623470 |
101 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 104 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1237989877 CA381829534 |
104 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs746358367 CA6183490 |
106 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6183491 rs770326611 |
106 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA6183492 rs775996554 |
107 | I>T | No |
ClinGen ExAC |
|
|
rs1050244648 CA224527471 |
114 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA224527472 rs780960664 |
114 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA381830116 rs1170957871 |
117 | E>A | No |
ClinGen gnomAD |
|
|
rs1462006827 CA381830172 |
120 | V>F | No |
ClinGen gnomAD |
|
|
rs866562265 CA224528138 |
121 | K>N | No |
ClinGen Ensembl |
|
|
rs757409598 CA6183505 |
121 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA381830222 rs1389598971 |
124 | E>K | No |
ClinGen TOPMed |
|
|
CA224528142 rs868676041 |
130 | T>K | No |
ClinGen Ensembl |
|
|
rs780646907 CA6183509 |
131 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA381830315 rs1364112415 |
131 | M>V | No |
ClinGen gnomAD |
|
|
CA6183528 rs368206869 |
135 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1410632386 CA381831190 |
137 | N>S | No |
ClinGen gnomAD |
|
|
rs1455309198 CA381831195 |
138 | V>M | No |
ClinGen gnomAD |
|
|
CA381831202 rs1160996700 |
139 | V>L | No |
ClinGen gnomAD |
|
|
CA381831217 rs1490717854 |
141 | A>T | No |
ClinGen gnomAD |
|
|
CA381831225 rs1300967498 |
142 | M>I | No |
ClinGen gnomAD |
|
|
CA224530227 rs907097327 |
142 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6183529 rs370581566 |
142 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381831222 rs907097327 |
142 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1265994610 CA381831255 |
146 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
CA381831254 rs1265994610 |
146 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA381831261 rs1381279041 |
147 | P>L | No |
ClinGen gnomAD |
|
|
CA224530235 rs1015218847 |
148 | P>L | No |
ClinGen TOPMed |
|
|
CA6183532 rs771698562 |
150 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs772786657 CA6183533 |
151 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs746553704 CA6183534 |
157 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs962687227 CA224530262 |
158 | G>C | No |
ClinGen TOPMed |
|
|
rs1285226424 CA381831331 |
158 | G>D | No |
ClinGen gnomAD |
|
|
rs1160706559 CA381831339 |
159 | G>V | No |
ClinGen gnomAD |
|
|
rs973798171 CA224530266 |
161 | I>M | No |
ClinGen TOPMed |
|
| TCGA novel | 163 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6183535 rs770381896 |
165 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA224530276 rs926614381 |
165 | T>R | No |
ClinGen Ensembl |
|
|
rs776680850 CA6183536 |
167 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA381831391 rs1234404169 |
168 | S>C | No |
ClinGen TOPMed |
|
|
rs1486269578 CA381831387 |
168 | S>T | No |
ClinGen gnomAD |
|
|
CA381831390 rs1234404169 |
168 | S>Y | No |
ClinGen TOPMed |
|
|
rs1205153772 CA381831393 |
169 | N>H | No |
ClinGen gnomAD |
|
|
rs938028891 CA224530295 |
169 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA381831427 rs1371457735 |
174 | L>F | No |
ClinGen TOPMed |
|
|
CA381831437 rs1157162865 |
175 | L>F | No |
ClinGen gnomAD |
|
|
CA224530316 rs561893654 |
178 | C>S | No |
ClinGen 1000Genomes |
|
|
rs1394233458 CA381831460 |
179 | M>K | No |
ClinGen TOPMed |
|
|
rs200677438 CA6183540 |
179 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA381831470 rs1174195630 |
180 | I>M | No |
ClinGen TOPMed |
|
|
rs1432333635 CA381831465 |
180 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 181 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 182 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 182 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6183541 rs767852974 |
184 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 190 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381832025 rs1454553767 |
192 | N>S | No |
ClinGen gnomAD |
|
|
CA381832030 rs1167842127 |
193 | S>C | No |
ClinGen gnomAD |
|
|
CA381832047 rs1388275268 |
195 | Q>E | No |
ClinGen gnomAD |
|
|
rs1411641943 CA381832068 |
197 | F>C | No |
ClinGen gnomAD |
|
|
CA224530599 rs866029443 |
199 | R>L | No |
ClinGen gnomAD |
|
|
CA381832081 rs866029443 |
199 | R>P | No |
ClinGen gnomAD |
|
|
rs1329591884 CA381832079 |
199 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs746643845 CA6183554 |
200 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746643845 CA6183553 |
200 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381832088 rs1372096928 |
201 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA381832089 rs1228165080 |
201 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA224530633 rs1046459001 |
203 | K>T | No |
ClinGen TOPMed |
|
|
CA6183556 rs776004013 |
204 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1206017827 CA381832109 |
204 | T>I | No |
ClinGen TOPMed |
|
|
rs769636964 CA6183558 |
205 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA381832124 rs1565391841 |
206 | K>N | No |
ClinGen Ensembl |
|
|
rs1342747324 CA381832117 |
206 | K>Q | No |
ClinGen TOPMed |
|
|
rs1320607429 CA381832121 |
206 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6183559 rs775427211 |
208 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6183560 rs183405413 |
212 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA224532890 rs989090156 |
218 | S>T | No |
ClinGen Ensembl |
|
|
rs1439580047 CA381832752 |
219 | G>S | No |
ClinGen gnomAD |
|
|
rs1456909589 CA381832762 |
220 | Q>* | No |
ClinGen gnomAD |
|
|
rs1387513445 CA381832788 |
222 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA381832790 rs1387513445 |
222 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs756849807 CA6183576 |
224 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs549878530 CA6183577 |
228 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381832854 rs1440089111 |
228 | R>H | No |
ClinGen TOPMed |
|
|
CA381832890 rs1294594893 |
231 | M>I | No |
ClinGen gnomAD |
|
|
CA6183578 rs572746963 |
231 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA224532895 rs1014227253 |
235 | V>I | No |
ClinGen TOPMed |
|
|
rs190849735 CA6183600 |
238 | C>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755625023 CA6183601 |
241 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs749302477 CA6183603 |
246 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA6183604 rs768700784 |
249 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311813633 CA381833671 |
250 | I>T | No |
ClinGen gnomAD |
|
|
rs1203086355 CA381833676 |
251 | V>L | No |
ClinGen gnomAD |
|
|
CA6183605 rs778936164 |
253 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs555905786 CA6183606 |
254 | I>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381833699 rs555905786 |
254 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381833718 rs1209742146 |
257 | E>* | No |
ClinGen TOPMed |
|
| TCGA novel | 257 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6183608 rs771852576 |
258 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs776767719 CA6183609 |
260 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1440762650 CA381833751 |
261 | D>V | No |
ClinGen TOPMed |
|
|
rs199836683 CA6183611 |
268 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375020267 CA6183610 |
268 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6183612 rs775537086 |
270 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs762965559 CA6183613 |
271 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA224534573 rs970804085 |
272 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 273 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA224534578 rs750675406 |
274 | E>G | No |
ClinGen Ensembl |
|
|
CA381833839 rs1322490220 |
274 | E>K | No |
ClinGen gnomAD |
|
|
CA381833855 rs1368465978 |
276 | D>H | No |
ClinGen gnomAD |
|
|
rs1303941572 CA381833863 |
277 | M>V | No |
ClinGen gnomAD |
|
|
CA381834866 rs1267876184 |
279 | T>I | No |
ClinGen gnomAD |
|
|
CA224538537 rs929778503 |
280 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6183631 rs768668961 |
280 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs774766774 CA381834889 |
281 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265774042 CA381834903 |
282 | D>E | No |
ClinGen TOPMed |
|
|
rs867519237 CA224538551 |
283 | H>N | No |
ClinGen Ensembl |
|
|
rs1423794976 CA381834911 |
283 | H>R | No |
ClinGen gnomAD |
|
|
CA381834926 rs1186185230 |
284 | P>Q | No |
ClinGen gnomAD |
|
|
CA381834923 rs1186185230 |
284 | P>R | No |
ClinGen gnomAD |
|
|
CA6183634 rs767833918 |
286 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs773611499 CA6183635 |
286 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224538571 rs866998019 |
292 | A>T | No |
ClinGen Ensembl |
|
|
rs1387546110 CA381835058 |
296 | K>E | No |
ClinGen gnomAD |
|
|
rs367984063 CA6183637 COSM195924 |
300 | G>S | Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA381835133 rs1364644182 |
303 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA224538575 rs1048253176 |
303 | R>Q | No |
ClinGen gnomAD |
|
|
CA224538581 rs972443191 |
304 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA381835139 rs972443191 |
304 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA224538597 rs888354839 |
307 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 308 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs11537843 CA224538600 |
310 | L>V | No |
ClinGen Ensembl |
|
|
rs1287970554 CA381835206 |
314 | I>T | No |
ClinGen gnomAD |
|
|
rs1315462537 CA381835214 |
315 | P>L | No |
ClinGen gnomAD |
|
|
rs888102620 CA224539045 |
323 | V>I | No |
ClinGen TOPMed |
|
|
CA224540391 rs904700564 |
338 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 339 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1565398007 CA381836006 |
340 | Q>E | No |
ClinGen Ensembl |
|
|
rs1156479098 CA381836019 |
341 | M>I | No |
ClinGen TOPMed |
|
|
CA381836017 rs1379410547 |
341 | M>T | No |
ClinGen TOPMed |
|
|
rs754128911 CA6183667 |
342 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA381836026 rs1425964111 |
342 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA381836043 rs1191482186 |
345 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA381836042 rs1467828212 |
345 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1565398027 CA381836052 |
346 | Q>H | No |
ClinGen Ensembl |
|
| TCGA novel | 348 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1254731515 CA381836068 |
349 | H>Y | No |
ClinGen gnomAD |
|
|
CA6183669 rs778947333 |
351 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs763885308 CA224540400 |
355 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA6183670 rs763885308 |
355 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1255448294 CA381836242 |
362 | A>G | No |
ClinGen TOPMed |
|
|
rs758544967 CA6183688 |
364 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1167392781 CA381836333 |
368 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs777709827 CA6183689 COSM3769447 |
369 | R>W | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6183690 rs747576476 |
372 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs1347442378 CA381836434 |
374 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA381836446 rs1316697283 |
375 | P>A | No |
ClinGen TOPMed |
|
|
CA6183692 rs373808614 |
376 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3375948 CA6183694 rs770001714 |
377 | G>S | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs775253017 CA6183695 |
379 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs762486131 CA6183696 |
380 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381836577 rs1335180617 |
381 | C>R | No |
ClinGen gnomAD |
|
|
CA6183746 rs200531037 |
382 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381837415 rs1355250692 |
383 | F>L | No |
ClinGen TOPMed |
|
|
CA224541699 rs751225524 |
384 | P>S | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q9Y570
1 regional properties for Q9Y570
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Alpha/beta hydrolase fold-1 | 79 - 362 | IPR000073 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.1.89 | Carboxylic ester 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 |
|---|---|
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| lncRNA binding | Binding to a long noncoding RNA (lncRNA). |
| protein C-terminal methylesterase activity | Catalysis of the reaction: C-terminal protein amino acid methyl ester + H2O = protein amino acid + methanol. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| protein methylesterase activity | Catalysis of the reaction: protein amino acid methyl ester + H2O = protein amino acid + methanol. |
| protein phosphatase 2A binding | Binding to protein phosphatase 2A. |
| protein phosphatase binding | Binding to a protein phosphatase. |
| protein phosphatase inhibitor activity | Binds to and stops, prevents or reduces the activity of a protein phosphatase, an enzyme that hydrolyzes phosphate groups from phosphorylated proteins. |
| protein phosphatase regulator activity | Binds to and modulates the activity of a protein phosphatase, an enzyme which catalyzes of the removal of a phosphate group from a protein substrate molecule. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| G2/M transition of mitotic cell cycle | The mitotic cell cycle transition by which a cell in G2 commits to M phase. The process begins when the kinase activity of M cyclin/CDK complex reaches a threshold high enough for the cell cycle to proceed. This is accomplished by activating a positive feedback loop that results in the accumulation of unphosphorylated and active M cyclin/CDK complex. |
| protein demethylation | The removal of a methyl group, from a protein amino acid. A methyl group is derived from methane by the removal of a hydrogen atom. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSALEKSMHL | GRLPSRPPLP | GSGGSQSGAK | MRMGPGRKRD | FSPVPWSQYF | ESMEDVEVEN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ETGKDTFRVY | KSGSEGPVLL | LLHGGGHSAL | SWAVFTAAII | SRVQCRIVAL | DLRSHGETKV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KNPEDLSAET | MAKDVGNVVE | AMYGDLPPPI | MLIGHSMGGA | IAVHTASSNL | VPSLLGLCMI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DVVEGTAMDA | LNSMQNFLRG | RPKTFKSLEN | AIEWSVKSGQ | IRNLESARVS | MVGQVKQCEG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ITSPEGSKSI | VEGIIEEEEE | DEEGSESISK | RKKEDDMETK | KDHPYTWRIE | LAKTEKYWDG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| WFRGLSNLFL | SCPIPKLLLL | AGVDRLDKDL | TIGQMQGKFQ | MQVLPQCGHA | VHEDAPDKVA |
| 370 | 380 | ||||
| EAVATFLIRH | RFAEPIGGFQ | CVFPGC |