Q5SGD2
PR
Gene name |
PPM1L (PP2CE) |
Protein name |
Protein phosphatase 1L |
Names |
Protein phosphatase 1-like, Protein phosphatase 2C isoform epsilon, PP2C-epsilon |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:151742 |
EC number |
3.1.3.16: Phosphoric monoester 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
1 structures for Q5SGD2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q5SGD2-F1 | Predicted | AlphaFoldDB |
207 variants for Q5SGD2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs760273018 CA2687853 |
4 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776870403 CA2687855 |
5 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs768283169 CA2687854 |
5 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1576623870 CA355250119 |
6 | M>K | No |
ClinGen Ensembl |
|
|
rs1173982245 CA355250115 |
6 | M>V | No |
ClinGen gnomAD |
|
|
CA355250126 rs1402410344 |
7 | T>S | No |
ClinGen gnomAD |
|
|
CA355250134 rs762293041 |
8 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2687857 rs765694942 |
13 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA355250168 rs1576623889 |
15 | I>L | No |
ClinGen Ensembl |
|
|
rs766592549 CA2687860 |
17 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs781420117 CA2687863 |
20 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1216036987 CA355250218 |
22 | R>I | No |
ClinGen gnomAD |
|
|
CA2687867 rs150937410 |
26 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA87127112 rs544863505 |
29 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2687871 rs779539738 |
34 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs776415335 CA2687874 |
36 | W>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA87127115 rs990492322 |
41 | H>D | No |
ClinGen Ensembl |
|
|
rs747726982 CA2687876 |
42 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2687879 rs763587147 |
43 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA355250373 rs1576623962 |
45 | V>G | No |
ClinGen Ensembl |
|
|
rs766926661 CA2687881 |
45 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766926661 CA2687880 |
45 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355250397 rs1307268070 |
49 | V>M | No |
ClinGen gnomAD |
|
|
CA355250405 rs1240901933 |
50 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 53 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355250427 rs369385243 |
53 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2687883 rs369385243 |
53 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs915122594 CA87127117 |
55 | A>V | No |
ClinGen TOPMed |
|
|
rs756280413 CA2687885 |
56 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202235612 CA355250453 |
57 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355250457 rs1373089186 |
58 | M>L | No |
ClinGen TOPMed |
|
| TCGA novel | 60 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750147761 CA2687887 |
61 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2687888 rs560428151 |
62 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1329384326 CA355250491 |
63 | V>L | No |
ClinGen gnomAD |
|
|
CA355250497 rs1560098703 |
64 | A>P | No |
ClinGen Ensembl |
|
|
CA2687889 rs780094386 |
66 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs926498877 CA87127118 |
67 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1479329114 CA355250563 |
73 | G>A | No |
ClinGen TOPMed |
|
|
CA2687892 rs780547641 |
74 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355250570 rs1295714669 |
75 | L>I | No |
ClinGen gnomAD |
|
|
CA2687893 rs747829404 |
77 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA2687895 rs773716819 |
78 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs771409811 CA2687898 CA2687897 |
79 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs886618185 CA355250600 |
80 | A>P | No |
ClinGen gnomAD |
|
|
rs886618185 CA87127120 |
80 | A>T | No |
ClinGen gnomAD |
|
|
CA355250604 rs1319911540 |
80 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA355250613 rs1576624058 |
82 | F>V | No |
ClinGen Ensembl |
|
|
CA355250627 rs1576624060 |
84 | K>E | No |
ClinGen Ensembl |
|
|
rs759937645 CA2687899 |
85 | T>I | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1265893158 CA355250647 |
86 | W>C | No |
ClinGen gnomAD |
|
|
CA2687901 rs775392854 |
89 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2687902 rs775392854 |
89 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs199550062 CA355250679 |
91 | H>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2687904 rs199550062 |
91 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758254400 CA2687905 |
92 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751567609 CA87127121 |
94 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs751567609 CA2687907 |
94 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1576624089 CA355250708 |
95 | V>G | No |
ClinGen Ensembl |
|
|
rs1303999196 CA355250710 |
96 | Y>H | No |
ClinGen TOPMed |
|
|
CA2687910 rs376685544 |
99 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755845334 CA355250762 |
101 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs755845334 CA2687911 |
101 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 102 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759827550 CA355250803 |
103 | D>E | No |
ClinGen gnomAD |
|
|
CA355250824 rs1302399713 |
105 | M>I | No |
ClinGen gnomAD |
|
|
rs1447775032 CA355250816 |
105 | M>L | No |
ClinGen gnomAD |
|
|
rs1447775032 CA355250817 |
105 | M>V | No |
ClinGen gnomAD |
|
|
rs1377069744 CA355250844 |
108 | R>H | No |
ClinGen gnomAD |
|
|
rs748946217 CA2687913 |
109 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA87127124 rs879245047 |
110 | E>K | No |
ClinGen Ensembl |
|
|
rs779096753 CA2687915 |
111 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355250873 rs1259727843 |
113 | T>A | No |
ClinGen gnomAD |
|
|
rs1396235803 CA355250888 |
115 | L>Q | No |
ClinGen TOPMed |
|
|
CA355250887 rs1456895668 |
115 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs868186585 CA87127125 |
116 | A>T | No |
ClinGen Ensembl |
|
|
CA87127126 rs149189014 |
116 | A>V | No |
ClinGen ESP gnomAD |
|
|
CA355250903 rs1438359558 |
118 | K>Q | No |
ClinGen TOPMed |
|
|
CA87127127 rs902050160 |
119 | T>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 120 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 121 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1442014122 CA355250956 |
125 | G>A | No |
ClinGen gnomAD |
|
|
CA87127130 rs998001982 |
131 | G>A | No |
ClinGen TOPMed |
|
|
CA355251078 rs1420220011 |
135 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
COSM1536852 rs1214662234 CA355251092 |
137 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA355251115 rs1576745480 |
140 | K>T | No |
ClinGen Ensembl |
|
|
CA87171225 rs570283597 |
141 | S>C | No |
ClinGen 1000Genomes |
|
|
CA355251126 COSM1693701 rs1181263708 |
142 | R>* | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs376079062 CA2687962 |
142 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1280025943 CA355251130 |
143 | L>V | No |
ClinGen TOPMed |
|
|
CA355251145 rs1472468891 |
145 | E>G | No |
ClinGen gnomAD |
|
|
CA355251149 rs1204915507 |
146 | A>S | No |
ClinGen TOPMed |
|
|
CA355251155 rs1415808551 |
147 | L>I | No |
ClinGen gnomAD |
|
|
CA355251173 rs1169661728 |
149 | Q>R | No |
ClinGen gnomAD |
|
|
rs1397736657 CA355251181 |
150 | H>R | No |
ClinGen gnomAD |
|
|
CA355251195 rs1466854699 |
152 | Q>R | No |
ClinGen gnomAD |
|
|
rs747539063 CA2687967 |
153 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs781258072 CA2687969 |
155 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2687970 rs748123792 |
158 | K>R | No |
ClinGen ExAC TOPMed |
|
|
rs1046350883 CA87171239 |
159 | E>K | No |
ClinGen Ensembl |
|
|
rs769904769 CA2687971 |
161 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA2687972 rs141666940 |
167 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142115583 CA2687973 |
167 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756215723 CA2687974 |
168 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2687975 rs775383295 |
174 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760692444 CA2687976 |
175 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs761292554 CA2687979 |
176 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2687978 rs369097835 |
176 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA gnomAD |
|
rs764770635 CA2687980 |
178 | R>* | Variant assessed as Somatic; 9.357e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2687981 rs75510734 |
178 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 179 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1400991685 CA355251381 |
179 | E>D | No |
ClinGen gnomAD |
|
|
rs1010968719 CA87171261 |
182 | E>Q | No |
ClinGen gnomAD |
|
|
rs1377855625 CA355251417 |
184 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 184 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2687985 rs755493531 |
188 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA355251493 rs1183186388 |
194 | T>M | No |
ClinGen gnomAD |
|
|
rs1460233763 CA355251500 |
195 | C>S | No |
ClinGen gnomAD |
|
| TCGA novel | 195 | C>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370103528 CA2688027 |
196 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355251557 rs1329479430 |
204 | D>A | No |
ClinGen gnomAD |
|
|
rs867092730 CA87192740 |
204 | D>N | No |
ClinGen Ensembl |
|
|
CA355251564 rs1576626571 |
205 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 208 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1338592423 CA355251596 |
210 | V>L | No |
ClinGen gnomAD |
|
|
rs753035924 COSM1617147 CA2688033 |
213 | S>L | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA87192747 rs377495364 |
214 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
| TCGA novel | 214 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1196378085 CA355251621 |
214 | R>H | No |
ClinGen gnomAD |
|
|
CA355251624 rs1480686788 |
215 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1426663316 CA547855993 |
219 | D>E | No |
ClinGen gnomAD |
|
|
CA355251705 rs1414478170 |
221 | D>H | No |
ClinGen gnomAD |
|
|
rs757453078 COSM3006214 CA2688037 |
224 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs779112240 CA2688038 |
224 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA355251772 rs1477666823 COSM233155 |
226 | P>S | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA87192755 rs898938532 |
229 | H>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 230 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355251881 rs1462593613 |
232 | K>M | No |
ClinGen gnomAD |
|
|
rs1400048978 CA355251929 |
235 | Q>* | No |
ClinGen gnomAD |
|
|
rs747920110 CA2688042 |
235 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1351730036 CA355251948 |
236 | L>V | No |
ClinGen TOPMed |
|
|
rs769463021 CA2688043 |
237 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs777833171 CA2688044 |
243 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1292474059 CA355252375 |
246 | G>V | No |
ClinGen TOPMed |
|
|
CA355252392 rs1290391282 |
249 | I>L | No |
ClinGen gnomAD |
|
|
rs758564541 CA2688058 |
250 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs367998384 CA2688059 |
252 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2688060 rs138670363 |
252 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 256 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1576628007 CA355252451 |
257 | V>G | No |
ClinGen Ensembl |
|
|
COSM1693702 rs1341424685 CA355252460 |
259 | G>R | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs749248775 CA2688063 |
260 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs13326359 CA87193446 VAR_050622 |
262 | A>S | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA355252501 rs1214162439 |
265 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA355252502 rs1214162439 |
265 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA355252499 rs1559943623 |
265 | R>W | No |
ClinGen Ensembl |
|
|
rs371727583 CA355252504 |
266 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371727583 CA2688065 |
266 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1576628042 CA355252522 |
269 | D>G | No |
ClinGen Ensembl |
|
|
CA2688067 rs376001479 |
271 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs191814793 CA2688066 |
271 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355252561 rs1576628062 |
275 | L>V | No |
ClinGen Ensembl |
|
|
rs952397683 CA87193453 |
276 | N>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 279 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775244580 CA2688070 |
281 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1161107431 CA355252669 |
291 | K>T | No |
ClinGen gnomAD |
|
|
CA2688072 rs769086371 |
292 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355252688 rs1323519192 |
294 | P>A | No |
ClinGen gnomAD |
|
|
CA355252696 rs1372678692 |
295 | E>A | No |
ClinGen gnomAD |
|
|
rs746363521 CA87193463 |
298 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA355252721 rs1203739018 |
298 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 299 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777095439 CA2688073 |
305 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1047297272 CA87193469 |
308 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs762412946 CA2688074 |
312 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2688077 rs773843756 |
315 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA2688076 rs773843756 |
315 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM95043 rs763911613 CA2688082 |
320 | R>H | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs753566512 CA2688083 |
322 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA355252886 rs1404591873 |
322 | D>E | No |
ClinGen gnomAD |
|
|
CA355252881 rs1178900313 |
322 | D>N | No |
ClinGen gnomAD |
|
|
rs1162496702 CA355252922 |
327 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 328 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372015805 CA87193485 |
328 | A>S | No |
ClinGen ESP TOPMed |
|
|
rs1396293596 CA355252938 |
330 | S>G | No |
ClinGen gnomAD |
|
|
rs146244483 CA2688084 |
331 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778885740 CA2688085 |
334 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA355252966 rs1330279240 |
334 | Q>P | No |
ClinGen TOPMed |
|
|
rs745757777 CA2688086 |
337 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs757971870 CA2688087 |
338 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209655125 CA355253000 |
339 | G>S | No |
ClinGen gnomAD |
|
|
rs779383143 CA2688088 |
341 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs746704419 CA2688089 |
342 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1214561553 CA355253035 |
344 | I>T | No |
ClinGen gnomAD |
|
|
CA2688091 rs777150768 |
344 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355253043 rs1470795360 |
345 | T>I | No |
ClinGen TOPMed |
|
|
rs967169442 CA87193497 |
346 | V>I | No |
ClinGen Ensembl |
|
|
rs529231667 CA355253050 |
347 | M>L | No |
ClinGen gnomAD |
|
|
rs529231667 CA87193499 |
347 | M>V | No |
ClinGen gnomAD |
|
|
CA355253068 rs1576628184 |
349 | V>G | No |
ClinGen Ensembl |
|
|
COSM1566609 CA355253064 rs1195902002 |
349 | V>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1478001319 CA355253084 |
351 | F>L | No |
ClinGen gnomAD |
|
|
rs1472416508 CA355253101 |
354 | S>G | No |
ClinGen gnomAD |
|
|
CA87193504 rs1020845198 |
354 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs763351583 CA2688095 |
356 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1559943836 CA355253126 |
357 | T>R | No |
ClinGen Ensembl |
|
|
rs926034888 CA87193507 |
359 | E>K | No |
ClinGen gnomAD |
No associated diseases with Q5SGD2
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.3.16 | Phosphoric monoester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| 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. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| metal ion binding | Binding to a metal ion. |
| myosin phosphatase activity | Catalysis of the reaction: phosphomyosin + H2O = myosin + phosphate. |
| protein serine/threonine phosphatase activity | Catalysis of the reaction: protein serine phosphate + H2O = protein serine + phosphate, and protein threonine phosphate + H2O = protein threonine + phosphate. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| MAPK cascade | An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. |
| protein dephosphorylation | The process of removing one or more phosphoric residues from a protein. |
| sphingolipid biosynthetic process | The chemical reactions and pathways resulting in the formation of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). |
| transmembrane receptor protein serine/threonine kinase signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses serine/threonine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription. |
30 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A5PJZ2 | PPM1L | Protein phosphatase 1L | Bos taurus (Bovine) | PR |
| O15297 | PPM1D | Protein phosphatase 1D | Homo sapiens (Human) | PR |
| Q9ULR3 | PPM1H | Protein phosphatase 1H | Homo sapiens (Human) | PR |
| P49593 | PPM1F | Protein phosphatase 1F | Homo sapiens (Human) | PR |
| Q8CGA0 | Ppm1f | Protein phosphatase 1F | Mus musculus (Mouse) | PR |
| Q80TL0 | Ppm1e | Protein phosphatase 1E | Mus musculus (Mouse) | PR |
| Q8BHN0 | Ppm1l | Protein phosphatase 1L | Mus musculus (Mouse) | PR |
| Q5JKN1 | Os01g0552300 | Probable protein phosphatase 2C 5 | Oryza sativa subsp japonica (Rice) | PR |
| Q0JLP9 | PP2C06 | Probable protein phosphatase 2C 6 | Oryza sativa subsp japonica (Rice) | PR |
| Q5SN75 | Os01g0656200 | Probable protein phosphatase 2C 8 | Oryza sativa subsp japonica (Rice) | PR |
| Q6K5I0 | Os02g0600000 | Probable protein phosphatase 2C 20 | Oryza sativa subsp japonica (Rice) | PR |
| Q7XW27 | Os04g0321800 | Probable protein phosphatase 2C 38 | Oryza sativa subsp japonica (Rice) | PR |
| Q6L482 | Os05g0358500 | Probable protein phosphatase 2C 48 | Oryza sativa subsp japonica (Rice) | PR |
| Q6L4R7 | PP2C53 | Protein phosphatase 2C 53 | Oryza sativa subsp japonica (Rice) | PR |
| Q6ZKL8 | Os08g0500300 | Probable protein phosphatase 2C 66 | Oryza sativa subsp japonica (Rice) | PR |
| Q9LNP9 | HAB2 | Protein phosphatase 2C 7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9CAJ0 | HAB1 | Protein phosphatase 2C 16 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O81716 | PPC4-2 | Probable protein phosphatase 2C 21 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LRZ4 | At3g16800 | Probable protein phosphatase 2C 41 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P49599 | PPH1 | Protein phosphatase 2C 57 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O04719 | ABI2 | Protein phosphatase 2C 77 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FIF5 | SAG113 | Probable protein phosphatase 2C 78 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8GY60 | At4g03415 | Probable protein phosphatase 2C 52 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8VZN9 | At1g43900 | Probable protein phosphatase 2C 11 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FG61 | At5g36250 | Probable protein phosphatase 2C 74 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SD02 | At3g51470 | Probable protein phosphatase 2C 47 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LDA7 | At3g15260 | Probable protein phosphatase 2C 39 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q3EAZ3 | At3g27140 | Putative protein phosphatase 2C-like protein 45 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q94AT1 | At5g53140 | Probable protein phosphatase 2C 76 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LMT1 | At1g18030 | Probable protein phosphatase 2C 8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MIEDTMTLLS | LLGRIMRYFL | LRPETLFLLC | ISLALWSYFF | HTDEVKTIVK | SSRDAVKMVK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GKVAEIMQND | RLGGLDVLEA | EFSKTWEFKN | HNVAVYSIQG | RRDHMEDRFE | VLTDLANKTH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PSIFGIFDGH | GGETAAEYVK | SRLPEALKQH | LQDYEKDKEN | SVLSYQTILE | QQILSIDREM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LEKLTVSYDE | AGTTCLIALL | SDKDLTVANV | GDSRGVLCDK | DGNAIPLSHD | HKPYQLKERK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RIKRAGGFIS | FNGSWRVQGI | LAMSRSLGDY | PLKNLNVVIP | DPDILTFDLD | KLQPEFMILA |
| 310 | 320 | 330 | 340 | 350 | |
| SDGLWDAFSN | EEAVRFIKER | LDEPHFGAKS | IVLQSFYRGC | PDNITVMVVK | FRNSSKTEEQ |