P78356
PR
Gene name |
PIP4K2B |
Protein name |
Phosphatidylinositol 5-phosphate 4-kinase type-2 beta |
Names |
1-phosphatidylinositol 5-phosphate 4-kinase 2-beta, Diphosphoinositide kinase 2-beta, Phosphatidylinositol 5-phosphate 4-kinase type II beta, PI(5)P 4-kinase type II beta, PIP4KII-beta, PtdIns(5)P-4-kinase isoform 2-beta |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8396 |
EC number |
2.7.1.149: Phosphotransferases with an alcohol group as acceptor |
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
27 structures for P78356
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1BO1 | X-ray | 300 A | A/B | 1-416 | PDB |
| 3WZZ | X-ray | 260 A | A/B | 31-416 | PDB |
| 3X01 | X-ray | 215 A | A/B | 31-416 | PDB |
| 3X02 | X-ray | 245 A | A/B | 31-416 | PDB |
| 3X03 | X-ray | 270 A | A/B | 31-416 | PDB |
| 3X04 | X-ray | 260 A | A/B | 31-416 | PDB |
| 3X05 | X-ray | 250 A | A/B | 31-416 | PDB |
| 3X06 | X-ray | 265 A | A/B | 31-416 | PDB |
| 3X07 | X-ray | 260 A | A/B | 31-416 | PDB |
| 3X08 | X-ray | 275 A | A/B | 31-416 | PDB |
| 3X09 | X-ray | 270 A | A/B | 31-416 | PDB |
| 3X0A | X-ray | 260 A | A/B | 31-416 | PDB |
| 3X0B | X-ray | 260 A | A/B | 31-416 | PDB |
| 3X0C | X-ray | 255 A | A/B | 31-416 | PDB |
| 6K4G | X-ray | 270 A | A/B | 31-416 | PDB |
| 6K4H | X-ray | 255 A | A/B | 31-416 | PDB |
| 7EM1 | X-ray | 265 A | A/B | 31-416 | PDB |
| 7EM2 | X-ray | 260 A | A/B | 31-416 | PDB |
| 7EM3 | X-ray | 310 A | A/B | 31-416 | PDB |
| 7EM4 | X-ray | 280 A | A/B | 31-416 | PDB |
| 7EM5 | X-ray | 280 A | A/B | 31-416 | PDB |
| 7EM6 | X-ray | 295 A | A/B | 31-416 | PDB |
| 7EM7 | X-ray | 345 A | A/B | 31-416 | PDB |
| 7EM8 | X-ray | 305 A | A/B | 31-416 | PDB |
| 7N80 | X-ray | 250 A | A/B | 32-416 | PDB |
| 7N81 | X-ray | 270 A | A/B | 32-416 | PDB |
| AF-P78356-F1 | Predicted | AlphaFoldDB |
237 variants for P78356
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA398790546 rs1270689341 |
2 | S>L | No |
TOPMed ClinGen |
|
|
CA398790509 rs986222709 |
4 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs774444974 CA8525870 |
4 | N>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1359841722 CA398790471 |
6 | T>A | No |
gnomAD ClinGen |
|
|
rs1276984222 CA398790469 |
6 | T>N | No |
gnomAD ClinGen |
|
|
rs1400035468 CA398790461 |
7 | S>G | No |
ClinGen gnomAD |
|
|
rs199783399 CA8525867 |
8 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs763252397 CA8525868 |
8 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1358938624 CA398790407 |
9 | T>R | No |
ClinGen gnomAD |
|
|
CA398790372 rs77286880 |
11 | V>A | No |
gnomAD ClinGen |
|
|
rs77286880 CA290333446 |
11 | V>G | No |
ClinGen gnomAD |
|
|
rs866672128 CA290333443 |
13 | V>G | No |
Ensembl ClinGen |
|
| TCGA novel | 18 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs924706383 CA290333434 |
19 | S>R | No |
ClinGen TOPMed |
|
|
rs1170638282 CA398790141 |
21 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 23 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 24 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770565684 CA8525861 |
24 | K>R | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 25 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1170893211 CA398790058 |
26 | K>Q | No |
TOPMed ClinGen |
|
|
rs1237815004 CA398789982 |
30 | C>G | No |
ClinGen gnomAD |
|
|
rs141528246 CA8525858 |
33 | V>L | No |
ESP ExAC gnomAD ClinGen |
|
|
rs141528246 CA8525859 |
33 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1009496783 CA290333403 |
34 | K>N | No |
ClinGen TOPMed |
|
|
rs747931980 CA8525857 |
34 | K>Q | No |
ExAC gnomAD ClinGen |
|
|
CA8525856 rs566615810 |
35 | L>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8525853 rs781182723 |
39 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290333392 rs866434925 |
41 | P>S | No |
Ensembl ClinGen |
|
|
rs1331593987 CA398789708 |
44 | S>R | No |
ClinGen TOPMed |
|
| TCGA novel | 45 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148365265 CA290333390 |
48 | W>C | No |
ClinGen ESP TOPMed |
|
|
CA8525851 rs757316660 |
48 | W>L | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 50 | V>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1214964720 CA398789552 |
53 | T>A | No |
TOPMed ClinGen |
|
|
CA398789543 rs1162950070 |
53 | T>K | No |
gnomAD ClinGen |
|
|
CA398785685 rs1421241285 |
54 | I>M | No |
gnomAD ClinGen |
|
|
rs774024612 CA8525815 |
55 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774024612 CA398785674 |
55 | N>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1268824863 CA398785593 |
58 | S>N | No |
gnomAD ClinGen |
|
|
CA8525813 rs369069940 |
59 | N>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 60 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8525812 rs376197734 |
61 | P>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA398785531 rs1218354777 |
62 | V>F | No |
ClinGen gnomAD |
|
| TCGA novel | 63 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 65 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 65 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777642616 CA8525809 |
70 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA8525808 rs758534498 |
72 | K>R | No |
ClinGen ExAC |
|
|
rs1598053571 CA398785175 |
75 | S>N | No |
Ensembl ClinGen |
|
|
CA8525806 rs779324819 |
79 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs199776451 CA8525807 |
79 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8525804 rs754320397 |
81 | N>S | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 83 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8525803 rs766896792 |
85 | N>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA290323029 rs957393580 |
87 | E>D | No |
gnomAD ClinGen |
|
| TCGA novel | 89 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398784466 rs1274488130 |
90 | P>S | No |
gnomAD ClinGen |
|
|
rs1172251049 CA398784447 |
91 | S>N | No |
gnomAD ClinGen |
|
|
rs779273477 CA8525786 |
92 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA398784369 rs1567658999 |
95 | F>L | No |
Ensembl ClinGen |
|
| TCGA novel | 96 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8525784 rs749535733 |
100 | P>S | No |
ExAC gnomAD ClinGen |
|
|
rs534790786 CA8525782 |
104 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8525781 rs750848424 |
106 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs768121542 CA8525780 |
107 | R>Q | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 108 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs537413271 CA8525779 |
111 | G>R | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1338197558 CA398783925 |
113 | D>N | No |
ClinGen TOPMed |
|
|
CA398783888 rs1193503298 |
114 | D>Y | No |
TOPMed ClinGen |
|
|
rs763725996 CA8525777 |
115 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs752420659 CA8525775 |
116 | D>N | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 117 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs192535553 CA8525751 |
122 | T>M | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 122 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768809374 CA8525749 |
123 | R>H | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 124 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 125 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1216175674 CA398782801 |
125 | A>V | No |
ClinGen gnomAD |
|
|
CA290321671 rs915262204 |
128 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 129 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746208971 CA8525745 |
129 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA8525744 rs781482052 |
129 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA290321664 rs867030527 |
131 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs570311434 TCGA novel CA290321662 |
131 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD ClinGen |
|
rs771312314 CA8525743 |
134 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA398782701 rs1567656983 |
134 | R>W | No |
Ensembl ClinGen |
|
| TCGA novel | 137 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747461422 CA8525742 |
137 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs757812265 CA8525740 |
138 | R>C | No |
ExAC gnomAD ClinGen |
|
|
rs1360253040 CA398782661 |
138 | R>H | No |
ClinGen TOPMed |
|
|
rs752318067 CA8525739 |
142 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs754600970 CA8525738 |
143 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 143 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754600970 CA8525737 |
143 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8525735 rs766236110 |
144 | D>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8525732 rs767605525 |
145 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8525733 rs186685484 |
145 | R>W | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA398782586 rs150129751 |
146 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1279184329 CA398782579 |
146 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA290321622 rs150129751 |
146 | R>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs762939961 CA8525731 |
147 | F>L | No |
ExAC gnomAD ClinGen |
|
|
rs775701154 CA398782556 |
149 | I>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs775701154 CA8525730 |
149 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 157 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1363688392 CA398782461 |
157 | V>M | No |
gnomAD ClinGen |
|
|
rs759760831 CA8525728 |
158 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 159 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 162 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1337886292 CA398782405 |
162 | N>S | No |
gnomAD ClinGen |
|
|
CA398782400 rs1471282890 |
163 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs1437626304 CA398782221 |
174 | C>F | No |
ClinGen gnomAD |
|
| TCGA novel | 176 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398782158 rs1179190490 |
177 | N>S | No |
ClinGen gnomAD |
|
|
CA8525710 rs751460323 |
178 | T>M | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 183 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8525708 rs111394547 |
185 | G>C | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA8525707 rs111394547 |
185 | G>S | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1292926829 CA398781945 |
186 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 186 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA290321334 rs921140472 |
188 | R>C | No |
Ensembl ClinGen |
|
|
CA398781889 rs1248574809 |
188 | R>H | No |
ClinGen gnomAD |
|
|
CA398781767 rs1386996202 |
193 | G>V | No |
TOPMed ClinGen |
|
|
rs1291907969 CA398781617 |
199 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 204 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774742531 CA8525701 |
206 | S>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA398781427 rs768191198 |
208 | R>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8525699 rs371290459 |
208 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8525700 rs768191198 |
208 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs779851344 CA8525698 |
209 | L>F | No |
ExAC gnomAD ClinGen |
|
|
rs755891728 CA8525697 |
210 | T>I | No |
ExAC gnomAD ClinGen |
|
|
CA398781354 rs1358683909 |
212 | H>N | No |
ClinGen TOPMed |
|
|
CA8525696 rs745533506 |
213 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 213 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 214 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 215 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398780631 rs1567655810 |
221 | T>M | No |
ClinGen Ensembl |
|
|
rs1158034817 CA398780538 |
226 | A>V | No |
ClinGen TOPMed |
|
|
rs762235703 CA8525667 |
228 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1306213392 CA398780312 |
236 | P>S | No |
Ensembl ClinGen |
|
|
CA8525642 rs775943060 |
237 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA8525641 rs765916493 |
237 | T>I | No |
ExAC gnomAD ClinGen |
|
|
rs1330361189 CA398780293 |
238 | F>L | No |
gnomAD ClinGen |
|
|
rs1417062343 CA398780175 |
247 | G>R | No |
ClinGen TOPMed |
|
|
rs1598046991 CA398780158 |
249 | K>R | No |
Ensembl ClinGen |
|
|
rs771831557 CA398780141 |
251 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1425630895 CA398780113 |
255 | E>D | No |
ClinGen gnomAD |
|
|
rs1236343231 CA398780109 |
256 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 258 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8525633 rs781068818 |
262 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA8525631 rs185653010 |
266 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8525632 rs757392929 |
266 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398780030 rs376906489 |
267 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8525629 rs758826784 |
267 | D>N | No |
ClinGen ExAC |
|
|
rs779320705 CA8525626 |
268 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8525627 rs765704682 |
268 | V>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs2230466 CA8525575 |
270 | F>L | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 272 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8525573 rs764957991 |
273 | Q>R | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 275 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 276 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1363109369 CA398778698 |
276 | I>V | No |
gnomAD ClinGen |
|
| TCGA novel | 277 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 286 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs922781144 CA290317416 |
287 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
rs142813296 CA8525568 |
288 | V>M | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA290317385 rs114737539 |
290 | R>Q | No |
1000Genomes ClinGen |
|
|
rs775864773 CA8525565 |
292 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1318795741 CA398778443 |
296 | M>T | No |
ClinGen gnomAD |
|
|
rs760989377 CA290317379 |
297 | E>A | No |
ClinGen TOPMed |
|
|
rs188695820 CA8525562 |
301 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs746331096 CA8525563 |
301 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA398778364 rs1380251879 |
302 | A>T | No |
ClinGen gnomAD |
|
|
CA398778350 rs1383976705 |
302 | A>V | No |
gnomAD ClinGen |
|
|
rs746600285 CA8525560 |
305 | E>K | No |
ExAC gnomAD ClinGen |
|
|
CA290317351 rs111902097 |
310 | D>G | No |
Ensembl ClinGen |
|
|
CA8525559 rs777156423 |
310 | D>H | No |
ExAC gnomAD ClinGen |
|
|
CA398778217 rs111902097 |
310 | D>V | No |
ClinGen Ensembl |
|
|
rs752317689 CA8525557 |
311 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8525556 rs765044504 |
311 | G>V | No |
ExAC gnomAD ClinGen |
|
|
CA8525554 rs111439746 |
312 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372624731 CA8525552 |
313 | G>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs774421628 CA8525551 |
314 | G>S | No |
ExAC gnomAD ClinGen |
|
|
CA8525550 rs764093207 |
315 | N>S | No |
ExAC gnomAD ClinGen |
|
|
rs1265157058 CA398778160 |
316 | L>V | No |
TOPMed gnomAD ClinGen |
|
|
rs1567651756 CA398778154 |
317 | L>F | No |
Ensembl ClinGen |
|
|
CA8525548 rs775603576 |
318 | C>F | No |
ExAC gnomAD ClinGen |
|
|
rs746277519 CA8525546 |
319 | S>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs770110182 CA8525547 |
319 | S>T | No |
ExAC gnomAD ClinGen |
|
|
CA398778135 rs1383820187 |
320 | Y>C | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 320 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8525545 rs777105009 |
322 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 323 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1336030009 CA398778117 |
323 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 323 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8525541 rs757879721 |
330 | L>F | No |
ExAC gnomAD ClinGen |
|
|
rs747807599 CA8525540 |
331 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778758542 CA8525539 |
334 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs566981815 CA8525538 |
335 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 335 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA290317285 rs767614188 |
335 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA398778016 rs1241775104 |
338 | G>V | No |
ClinGen gnomAD |
|
|
CA8525537 rs753752885 |
339 | P>S | No |
ExAC gnomAD ClinGen |
|
|
rs112738571 CA290317278 |
343 | D>G | No |
Ensembl ClinGen |
|
|
CA8525536 rs147308811 |
343 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8525535 rs756057266 |
345 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA290317269 rs144069813 |
346 | V>A | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 348 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 351 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1453375217 CA398777868 |
351 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs764191588 CA8525533 |
351 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1326323492 CA398777844 |
354 | H>R | No |
TOPMed gnomAD ClinGen |
|
|
CA8525512 rs765317692 |
356 | S>N | No |
ExAC gnomAD ClinGen |
|
|
rs759709479 CA8525511 |
358 | P>R | No |
ExAC gnomAD ClinGen |
|
|
CA398777804 rs1268479149 |
358 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 359 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA290317058 rs228290 |
364 | F>L | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA398777750 rs1221273544 |
365 | M>I | No |
ClinGen gnomAD |
|
|
CA8525506 rs772521656 |
367 | I>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs942713473 CA290317050 |
368 | I>T | No |
ClinGen TOPMed |
|
|
CA398777720 rs1405875904 |
370 | I>V | No |
ClinGen gnomAD |
|
|
rs543549858 CA8525504 |
372 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ExAC gnomAD ClinGen NCI-TCGA |
|
rs1567651200 CA398777691 |
374 | Y>* | No |
ClinGen Ensembl |
|
|
CA290317044 rs1038826478 |
375 | D>E | No |
ClinGen Ensembl |
|
|
rs944472257 CA290317040 |
376 | T>I | No |
Ensembl ClinGen |
|
|
CA398777682 rs1400700850 |
376 | T>P | No |
ClinGen gnomAD |
|
|
CA398777628 rs1479509313 |
383 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 385 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1428783424 CA398777608 |
386 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA290316671 rs904348367 |
391 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
| TCGA novel | 397 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1181683976 CA398777497 |
401 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 404 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8525478 rs369204968 |
405 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398777448 rs1567650761 |
408 | N>S | No |
Ensembl ClinGen |
|
| TCGA novel | 409 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs968104676 CA290316631 |
411 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs750680394 CA8525473 |
416 | T>M | No |
ClinGen ExAC gnomAD |
No associated diseases with P78356
1 regional properties for P78356
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Phosphatidylinositol-4-phosphate 5-kinase, core | 38 - 416 | IPR002498 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.1.149 | Phosphotransferases with an alcohol group as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| autophagosome | A double-membrane-bounded compartment that engulfs endogenous cellular material as well as invading microorganisms to target them to the lytic vacuole/lysosome for degradation as part of macroautophagy. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| 1-phosphatidylinositol-4-phosphate 5-kinase activity | Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 4-phosphate + ATP = 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + ADP + 2 H(+). |
| 1-phosphatidylinositol-5-phosphate 4-kinase activity | Catalysis of the reaction: ATP + 1-phosphatidyl-1D-myo-inositol 5-phosphate = ADP + 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| GTP binding | Binding to GTP, guanosine triphosphate. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate biosynthetic process | The chemical reactions and pathways resulting in the formation of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate. |
| autophagosome-lysosome fusion | The process in which autophagosomes, double-membraned vesicles containing cytoplasmic material, fuse with a vacuole (yeast) or lysosome (e.g. mammals and insects). In the case of yeast, inner membrane-bounded structures (autophagic bodies) appear in the vacuole. Fusion provides an acidic environment and digestive function to the interior of the autophagosome. |
| cell surface receptor signaling pathway | The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription. |
| negative regulation of 1-phosphatidylinositol-4-phosphate 5-kinase activity | Any process that decreases the frequency, rate or extent of the catalysis of the reaction: ATP + 1-phosphatidyl-1D-myo-inositol 4-phosphate = ADP + 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate. |
| negative regulation of insulin receptor signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of insulin receptor signaling. |
| phosphatidylinositol phosphate biosynthetic process | The chemical reactions and pathways resulting in the formation of phosphatidylinositol phosphate. |
| phosphorylation | The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide. |
| positive regulation of autophagosome assembly | Any process that activates or increases the frequency, rate or extent of autophagic vacuole assembly. |
| regulation of autophagy | Any process that modulates the frequency, rate or extent of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm. |
15 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q17QS4 | PIP5KL1 | Phosphatidylinositol 4-phosphate 5-kinase-like protein 1 | Bos taurus (Bovine) | PR |
| Q0P5F7 | PIP4K2C | Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma | Bos taurus (Bovine) | PR |
| Q8TBX8 | PIP4K2C | Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma | Homo sapiens (Human) | PR |
| Q5T9C9 | PIP5KL1 | Phosphatidylinositol 4-phosphate 5-kinase-like protein 1 | Homo sapiens (Human) | PR |
| Q99755 | PIP5K1A | Phosphatidylinositol 4-phosphate 5-kinase type-1 alpha | Homo sapiens (Human) | PR |
| Q6U7H8 | Pip5kl1 | Phosphatidylinositol 4-phosphate 5-kinase-like protein 1 | Mus musculus (Mouse) | PR |
| Q91XU3 | Pip4k2c | Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma | Mus musculus (Mouse) | PR |
| Q80XI4 | Pip4k2b | Phosphatidylinositol 5-phosphate 4-kinase type-2 beta | Mus musculus (Mouse) | PR |
| O88370 | Pip4k2c | Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma | Rattus norvegicus (Rat) | PR |
| O48709 | PIP5K3 | Phosphatidylinositol 4-phosphate 5-kinase 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q56YP2 | PIP5K1 | Phosphatidylinositol 4-phosphate 5-kinase 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SFB8 | PIP5K6 | Phosphatidylinositol 4-phosphate 5-kinase 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8L796 | PIP5K2 | Phosphatidylinositol 4-phosphate 5-kinase 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q6GL14 | pip4k2c | Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q6IQE1 | pip4k2c | Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSSNCTSTTA | VAVAPLSASK | TKTKKKHFVC | QKVKLFRASE | PILSVLMWGV | NHTINELSNV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PVPVMLMPDD | FKAYSKIKVD | NHLFNKENLP | SRFKFKEYCP | MVFRNLRERF | GIDDQDYQNS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VTRSAPINSD | SQGRCGTRFL | TTYDRRFVIK | TVSSEDVAEM | HNILKKYHQF | IVECHGNTLL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PQFLGMYRLT | VDGVETYMVV | TRNVFSHRLT | VHRKYDLKGS | TVAREASDKE | KAKDLPTFKD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NDFLNEGQKL | HVGEESKKNF | LEKLKRDVEF | LAQLKIMDYS | LLVGIHDVDR | AEQEEMEVEE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RAEDEECEND | GVGGNLLCSY | GTPPDSPGNL | LSFPRFFGPG | EFDPSVDVYA | MKSHESSPKK |
| 370 | 380 | 390 | 400 | 410 | |
| EVYFMAIIDI | LTPYDTKKKA | AHAAKTVKHG | AGAEISTVNP | EQYSKRFNEF | MSNILT |