O14495
Gene name |
PLPP3 |
Protein name |
Phospholipid phosphatase 3 |
Names |
Lipid phosphate phosphohydrolase 3, PAP2-beta, Phosphatidate phosphohydrolase type 2b, Phosphatidic acid phosphatase 2b, PAP-2b, PAP2b, Vascular endothelial growth factor and type I collagen-inducible protein, VCIP |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8613 |
EC number |
3.1.3.4: 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 O14495
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O14495-F1 | Predicted | AlphaFoldDB |
227 variants for O14495
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA873626 rs759896266 |
4 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1557520015 CA340573388 |
5 | K>R | No |
ClinGen Ensembl |
|
|
rs776566428 CA873625 |
7 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1263723798 CA340573368 |
8 | K>Q | No |
ClinGen gnomAD |
|
|
CA873624 rs778010038 |
12 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA340573340 rs778010038 |
12 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA873623 rs778010038 |
12 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA340573341 rs1002367298 |
12 | P>S | No |
ClinGen gnomAD |
|
|
rs1002367298 CA23075418 |
12 | P>T | No |
ClinGen gnomAD |
|
|
rs1217184180 CA340573327 |
14 | S>T | No |
ClinGen gnomAD |
|
|
rs141567203 CA23075417 |
15 | K>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1340224986 CA340573323 |
15 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 15 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771905409 CA873621 |
16 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA873620 rs778340556 |
16 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA340573310 rs1291279581 |
17 | G>S | No |
ClinGen gnomAD |
|
|
rs1418129246 CA340573285 |
20 | P>R | No |
ClinGen gnomAD |
|
|
rs1476732641 CA340573284 |
21 | A>T | No |
ClinGen gnomAD |
|
|
rs1046947891 CA340573267 |
23 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs781512827 CA873616 |
23 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA340573264 rs1282644784 |
24 | N>D | No |
ClinGen TOPMed |
|
|
rs1034600155 CA23075415 |
25 | N>T | No |
ClinGen TOPMed |
|
|
rs1265429227 CA340573245 |
26 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1456547160 CA340573237 |
28 | R>G | No |
ClinGen gnomAD |
|
|
CA340573235 rs1275293647 |
28 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA873610 rs763384351 |
28 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340573234 rs1275293647 |
28 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1184957085 CA340573220 |
30 | G>D | No |
ClinGen TOPMed |
|
|
CA340573212 rs1317720662 |
31 | S>T | No |
ClinGen gnomAD |
|
|
CA340573200 rs1271117158 |
33 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA340573193 rs1475072173 |
34 | V>A | No |
ClinGen TOPMed |
|
|
CA340573195 rs1004200015 |
34 | V>L | No |
ClinGen gnomAD |
|
|
CA23075414 rs1004200015 |
34 | V>M | No |
ClinGen gnomAD |
|
|
rs1194898909 CA340573188 |
35 | L>P | No |
ClinGen TOPMed |
|
|
rs752808813 CA873609 |
36 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 41 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370279307 CA873607 |
42 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1569624054 CA340573134 |
43 | C>F | No |
ClinGen Ensembl |
|
|
CA340573118 rs777046381 |
45 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1463706976 CA340573115 |
46 | M>L | No |
ClinGen gnomAD |
|
|
rs1395566830 CA340573113 |
46 | M>T | No |
ClinGen gnomAD |
|
|
rs1349263606 CA340574555 |
47 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA340574535 rs1312036370 |
50 | P>L | No |
ClinGen gnomAD |
|
|
CA23070801 rs201459952 |
53 | I>M | No |
ClinGen 1000Genomes TOPMed |
|
|
CA23070802 rs375912953 |
53 | I>V | No |
ClinGen ESP TOPMed |
|
|
CA873566 rs202156325 |
54 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340574509 rs1400216670 |
55 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 58 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1207605327 CA340574468 |
60 | K>N | No |
ClinGen TOPMed |
|
|
CA873562 rs767802099 |
63 | H>R | No |
ClinGen ExAC |
|
|
CA340574450 rs1236594942 |
63 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA340574444 rs1485987236 |
64 | R>* | No |
ClinGen TOPMed |
|
|
rs749718381 CA23070799 |
64 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA340574438 rs1189655666 |
65 | G>E | No |
ClinGen TOPMed |
|
|
rs761474304 CA873561 |
71 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs780501647 CA23070798 |
72 | S>G | No |
ClinGen gnomAD |
|
|
rs1349242578 CA340574386 |
72 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA873560 rs751372035 |
74 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763962988 CA873559 |
78 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA873558 rs762937062 |
78 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340574328 rs1445945294 |
81 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 81 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340574302 rs1225164235 |
84 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA873556 rs769334962 |
85 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA23070797 rs982368598 |
85 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1557506920 CA340574293 |
86 | A>S | No |
ClinGen Ensembl |
|
|
CA873552 rs748400164 |
91 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 92 | G>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA873548 rs780258727 |
94 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA873549 rs143533558 |
94 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340574213 rs1421878450 |
99 | A>S | No |
ClinGen gnomAD |
|
|
CA340574214 rs1421878450 |
99 | A>T | No |
ClinGen gnomAD |
|
|
rs190738006 CA873545 |
99 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1275053938 CA340574187 |
101 | I>V | No |
ClinGen gnomAD |
|
|
rs1231942061 CA340574180 |
102 | T>A | No |
ClinGen gnomAD |
|
|
rs142369156 CA873526 |
102 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757418849 CA340574164 |
104 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA873523 rs751819679 |
106 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA23069471 rs751819679 |
106 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340574146 rs1243496213 |
107 | R>P | No |
ClinGen TOPMed |
|
|
rs1243496213 CA340574147 |
107 | R>Q | No |
ClinGen TOPMed |
|
|
rs201684971 CA873521 |
107 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340574120 rs1172360094 |
111 | L>V | No |
ClinGen gnomAD |
|
|
rs1319646207 CA340574112 |
112 | K>R | No |
ClinGen TOPMed |
|
|
rs140476566 CA873519 |
114 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200383278 CA873516 |
115 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA873515 rs200383278 |
115 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA873517 rs753280597 COSM1667569 |
115 | R>W | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA873514 rs151304097 |
116 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767309067 CA873513 |
116 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs151304097 CA340574092 |
116 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 116 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340574090 rs767309067 |
116 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA873512 rs763340277 |
117 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs148766697 CA873510 |
119 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA873509 rs749523087 |
120 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA873506 rs747117364 |
123 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs758626117 CA873504 |
124 | A>G | No |
ClinGen ExAC TOPMed |
|
|
rs777936496 CA873505 |
124 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA873503 rs747883707 |
125 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA340574001 rs1311430474 |
130 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1453922708 CA340574004 |
130 | V>M | No |
ClinGen gnomAD |
|
|
rs778831660 CA873502 |
131 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs928116304 CA23069467 |
132 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs202227786 CA23069466 |
134 | L>V | No |
ClinGen 1000Genomes |
|
|
rs1298343136 CA340573969 |
135 | F>C | No |
ClinGen TOPMed |
|
|
CA340573967 rs1467153337 |
135 | F>L | No |
ClinGen gnomAD |
|
|
CA340573973 rs1369326077 |
135 | F>L | No |
ClinGen Ensembl |
|
|
rs1361516644 CA340573946 |
139 | I>L | No |
ClinGen gnomAD |
|
|
CA873500 rs753858581 |
139 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs375354068 CA340573911 |
143 | F>L | No |
ClinGen gnomAD |
|
|
rs1423657232 CA340573902 |
145 | D>N | No |
ClinGen gnomAD |
|
|
CA23069464 rs982341573 |
151 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
COSM911057 rs749957963 CA873497 |
153 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM341215 CA873496 rs778042742 |
153 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs761614114 CA873495 |
157 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775715678 CA873494 |
161 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765676648 CA873493 |
163 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340573779 rs1343563966 |
164 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 165 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1295684191 CA340573766 |
166 | F>I | No |
ClinGen gnomAD |
|
|
CA873490 rs771463266 |
168 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA873489 rs747029264 |
172 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA23069463 rs941431841 |
172 | S>Y | No |
ClinGen Ensembl |
|
|
rs1454051997 CA340573705 |
174 | G>D | No |
ClinGen gnomAD |
|
|
rs1390388028 CA340573692 |
176 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1390388028 CA340573694 |
176 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA873486 rs200887319 |
178 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1162287595 CA340573676 |
178 | N>T | No |
ClinGen gnomAD |
|
|
rs778546686 CA873485 |
180 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA340573663 rs1189598398 |
180 | R>K | No |
ClinGen gnomAD |
|
|
CA340573620 rs1486857859 |
186 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs756131844 CA873481 |
186 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA873480 rs749937717 |
187 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1191799496 CA340573607 |
188 | V>I | No |
ClinGen TOPMed |
|
|
rs1433955746 CA340573583 |
191 | A>S | No |
ClinGen TOPMed |
|
|
rs1802023 CA23069431 |
192 | R>S | No |
ClinGen Ensembl |
|
|
rs756051843 CA340573557 |
193 | K>M | No |
ClinGen gnomAD |
|
|
CA23069430 rs756051843 |
193 | K>T | No |
ClinGen gnomAD |
|
|
rs751063721 CA873459 |
204 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA340573474 rs1179859017 |
205 | Y>C | No |
ClinGen gnomAD |
|
|
CA340573460 rs1238026781 |
207 | M>T | No |
ClinGen TOPMed |
|
|
rs777419822 CA873458 |
208 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA23068195 rs758068290 |
212 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340573086 rs1569868707 |
213 | Y>S | No |
ClinGen Ensembl |
|
|
CA873437 rs756427754 |
215 | Q>H | No |
ClinGen ExAC |
|
|
CA873436 rs750788245 |
216 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA340573062 rs1316309327 |
217 | R>C | No |
ClinGen gnomAD |
|
|
CA873435 rs150738833 |
217 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA873433 rs751654402 CA340573053 |
218 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA873432 rs199497649 |
219 | T>S | No |
ClinGen 1000Genomes ExAC |
|
| TCGA novel | 220 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340573037 rs1161585309 |
221 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA873431 rs763212888 COSM137771 |
221 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 222 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 222 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340573020 rs1455419973 |
224 | R>C | No |
ClinGen TOPMed |
|
|
CA873430 rs775806317 |
224 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1253696312 CA340573014 |
225 | L>P | No |
ClinGen gnomAD |
|
|
rs1189328803 CA340573016 |
225 | L>V | No |
ClinGen gnomAD |
|
|
rs1238767447 CA340573010 |
226 | L>F | No |
ClinGen gnomAD |
|
|
rs1445859998 CA340573004 |
227 | R>Q | No |
ClinGen gnomAD |
|
|
rs765589454 CA873429 |
227 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1210159493 CA340572966 |
233 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs759339810 CA873428 |
234 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1272302943 CA340572951 |
235 | I>M | No |
ClinGen gnomAD |
|
|
CA873426 rs770890192 |
236 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA873427 rs776584476 |
236 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA23068193 rs944245577 |
238 | A>G | No |
ClinGen TOPMed |
|
|
CA23068194 rs1002779920 |
238 | A>S | No |
ClinGen TOPMed |
|
|
CA23068192 rs746989646 |
240 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA340572918 rs1269603920 |
240 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA873424 rs772751531 |
241 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778468459 CA873421 |
246 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 247 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754638009 CA873420 |
252 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA873419 rs746216456 |
253 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1418008908 CA340572831 |
254 | S>G | No |
ClinGen gnomAD |
|
|
rs1167794110 CA340572803 |
258 | A>S | No |
ClinGen gnomAD |
|
|
CA873418 rs141276133 |
261 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1049124797 CA23068190 |
263 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA873417 rs757751099 |
264 | A>D | No |
ClinGen ExAC |
|
|
rs868560033 CA340572766 |
264 | A>S | No |
ClinGen gnomAD |
|
|
rs868560033 CA23068189 |
264 | A>T | No |
ClinGen gnomAD |
|
|
rs1222048489 CA340572750 |
267 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs372335333 CA873413 |
268 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1291703103 CA340572734 |
269 | C>F | No |
ClinGen TOPMed |
|
|
rs759898320 CA873411 |
270 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs765501405 CA873412 |
270 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs182999910 CA873392 |
274 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1557494763 CA340572676 |
276 | D>A | No |
ClinGen Ensembl |
|
|
CA340572675 rs1557494763 |
276 | D>G | No |
ClinGen Ensembl |
|
|
CA23066630 rs899202466 |
276 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA340572648 rs1422822047 |
280 | T>A | No |
ClinGen gnomAD |
|
|
rs17850456 CA873391 |
282 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs17850456 CA873390 |
282 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA23066629 rs890556930 |
283 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs150216828 CA873388 |
283 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340572625 rs1405600033 |
284 | L>F | No |
ClinGen gnomAD |
|
|
CA340572624 rs1176411561 |
284 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs746192689 CA873386 |
285 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA23066628 rs746192689 |
285 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340572616 rs1208590537 |
286 | L>V | No |
ClinGen gnomAD |
|
|
rs1557494725 CA340572608 |
287 | P>R | No |
ClinGen Ensembl |
|
|
rs762473321 CA873385 |
288 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA340572592 rs1212594668 |
290 | A>G | No |
ClinGen gnomAD |
|
|
rs575915994 CA873384 |
290 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs146593813 CA873383 |
291 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1229420952 CA340572581 |
292 | R>L | No |
ClinGen gnomAD |
|
|
rs1229420952 CA340572583 |
292 | R>Q | No |
ClinGen gnomAD |
|
|
rs747279885 COSM911056 CA873382 |
292 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA340572564 rs1404033545 |
295 | I>L | No |
ClinGen TOPMed |
|
|
CA23066625 rs914138911 |
298 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA873381 rs147388964 |
299 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340572533 rs1286657067 |
300 | D>A | No |
ClinGen TOPMed |
|
|
rs772704217 CA873380 |
300 | D>N | No |
ClinGen ExAC |
|
|
rs1414687048 CA340572517 |
302 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 304 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs917338023 CA23066624 |
305 | N>K | No |
ClinGen Ensembl |
|
|
CA340572495 rs1557494692 |
305 | N>S | No |
ClinGen Ensembl |
|
|
CA340572480 rs867699788 |
307 | H>L | No |
ClinGen TOPMed |
|
|
CA23066623 rs867699788 |
307 | H>R | No |
ClinGen TOPMed |
|
|
CA23066622 rs935658742 |
309 | N>D | No |
ClinGen TOPMed |
|
| TCGA novel | 310 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340572461 rs1304245519 |
310 | M>V | No |
ClinGen Ensembl |
|
|
rs779117993 CA873377 |
311 | M>T | No |
ClinGen ExAC |
No associated diseases with O14495
1 regional properties for O14495
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Phosphatidic acid phosphatase type 2/haloperoxidase | 130 - 276 | IPR000326 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.3.4 | Phosphoric monoester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
13 GO annotations of cellular component
| Name | Definition |
|---|---|
| adherens junction | A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules. |
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| endoplasmic reticulum exit site | An endoplasmic reticulum part at which COPII-coated vesicles are produced. |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| endoplasmic reticulum-Golgi intermediate compartment membrane | The lipid bilayer surrounding any of the compartments of the endoplasmic reticulum (ER)-Golgi intermediate compartment system. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| 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. |
| integral component of plasma membrane | The component of the plasma 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| membrane raft | Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| trans-Golgi network | The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| ceramide-1-phosphate phosphatase activity | Catalysis of the reaction: ceramide-1-phosphate + H2O = ceramide+ phosphate. |
| integrin binding | Binding to an integrin. |
| lipid phosphatase activity | Catalysis of the reaction: a phospholipid + H2O = a lipid + phosphate. |
| phosphatidate phosphatase activity | Catalysis of the reaction: a 1,2-diacylglycerol 3-phosphate + H2O = a 1,2-diacyl-sn-glycerol + phosphate. |
| sphingosine-1-phosphate phosphatase activity | Catalysis of the reaction: sphingosine 1-phosphate + H2O = sphingosine + phosphate. |
23 GO annotations of biological process
| Name | Definition |
|---|---|
| Bergmann glial cell differentiation | The process in which neuroepithelial cells of the neural tube give rise to Brgmann glial cells, specialized bipotential progenitors cells of the cerebellum. Differentiation includes the processes involved in commitment of a cell to a specific fate. |
| blood vessel development | The process whose specific outcome is the progression of a blood vessel over time, from its formation to the mature structure. The blood vessel is the vasculature carrying blood. |
| canonical Wnt signaling pathway | The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. In this pathway, the activated receptor signals via downstream effectors that result in the inhibition of beta-catenin phosphorylation, thereby preventing degradation of beta-catenin. Stabilized beta-catenin can then accumulate and travel to the nucleus to trigger changes in transcription of target genes. |
| cell-cell adhesion mediated by integrin | The attachment of one cell to another cell via an integrin, a heterodimeric adhesion receptor formed by the non-covalent association of particular alpha and beta subunits. |
| ceramide metabolic process | The chemical reactions and pathways involving ceramides, any N-acylated sphingoid. |
| gastrulation with mouth forming second | A gastrulation process in which the initial invagination becomes the anus and the mouth forms second. |
| homotypic cell-cell adhesion | The attachment of a cell to a second cell of the identical type via adhesion molecules. |
| integrin-mediated signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to an integrin on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| negative regulation of protein phosphorylation | Any process that stops, prevents or reduces the rate of addition of phosphate groups to amino acids within a protein. |
| phospholipid dephosphorylation | The process of removing one or more phosphate groups from a phosphorylated lipid, any member of a group of substances soluble in lipid solvents but only sparingly soluble in aqueous solvents. |
| phospholipid metabolic process | The chemical reactions and pathways involving phospholipids, any lipid containing phosphoric acid as a mono- or diester. |
| positive regulation of cell-cell adhesion | Any process that activates or increases the rate or extent of cell adhesion to another cell. |
| positive regulation of DNA-binding transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of a transcription factor, any factor involved in the initiation or regulation of transcription. |
| positive regulation of endothelial cell migration | Any process that increases the rate, frequency, or extent of the orderly movement of an endothelial cell into the extracellular matrix to form an endothelium. |
| positive regulation of peptidyl-tyrosine phosphorylation | Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-tyrosine. |
| protein stabilization | Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation. |
| regulation of sphingolipid mediated signaling pathway | Any process that modulates the frequency, rate or extent of sphingolipid signaling. |
| regulation of Wnt signaling pathway | Any process that modulates the frequency, rate or extent of the activity of the Wnt signal transduction pathway. |
| retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum | The directed movement of substances from the Golgi back to the endoplasmic reticulum, mediated by vesicles bearing specific protein coats such as COPI or COG. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| 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). |
| sphingosine metabolic process | The chemical reactions and pathways involving sphingosine (sphing-4-enine), trans-D-erytho-2-amino-octadec-4-ene-1,3-diol, a long chain amino diol sphingoid base that occurs in most sphingolipids in animal tissues. |
| wound healing | The series of events that restore integrity to a damaged tissue, following an injury. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8TBJ4 | PLPPR1 | Phospholipid phosphatase-related protein type 1 | Homo sapiens (Human) | PR |
| Q8BFZ2 | Plppr1 | Phospholipid phosphatase-related protein type 1 | Mus musculus (Mouse) | PR |
| Q99JY8 | Plpp3 | Phospholipid phosphatase 3 | Mus musculus (Mouse) | PR |
| Q6WAY2 | Plppr1 | Phospholipid phosphatase-related protein type 1 | Rattus norvegicus (Rat) | PR |
| P97544 | Plpp3 | Phospholipid phosphatase 3 | Rattus norvegicus (Rat) | PR |
| A4II83 | plppr1 | Phospholipid phosphatase-related protein type 1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MQNYKYDKAI | VPESKNGGSP | ALNNNPRRSG | SKRVLLICLD | LFCLFMAGLP | FLIIETSTIK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PYHRGFYCND | ESIKYPLKTG | ETINDAVLCA | VGIVIAILAI | ITGEFYRIYY | LKKSRSTIQN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PYVAALYKQV | GCFLFGCAIS | QSFTDIAKVS | IGRLRPHFLS | VCNPDFSQIN | CSEGYIQNYR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| CRGDDSKVQE | ARKSFFSGHA | SFSMYTMLYL | VLYLQARFTW | RGARLLRPLL | QFTLIMMAFY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TGLSRVSDHK | HHPSDVLAGF | AQGALVACCI | VFFVSDLFKT | KTTLSLPAPA | IRKEILSPVD |
| 310 | |||||
| IIDRNNHHNM | M |