P23677
Gene name |
ITPKA |
Protein name |
Inositol-trisphosphate 3-kinase A |
Names |
Inositol 1,4,5-trisphosphate 3-kinase A, IP3 3-kinase A, IP3K A, InsP 3-kinase A |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3706 |
EC number |
2.7.1.127: 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
5 structures for P23677
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1W2C | X-ray | 195 A | A/B | 197-461 | PDB |
| 1W2D | X-ray | 194 A | A/B | 197-461 | PDB |
| 1W2F | X-ray | 180 A | A/B | 188-461 | PDB |
| 4UPU | X-ray | 234 A | B | 158-183 | PDB |
| AF-P23677-F1 | Predicted | AlphaFoldDB |
354 variants for P23677
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1420031473 CA391833835 |
5 | G>R | No |
ClinGen Ensembl |
|
|
rs1160641925 CA391833847 |
5 | G>V | No |
ClinGen TOPMed |
|
|
CA391833916 rs1458860293 |
8 | T>M | No |
ClinGen TOPMed |
|
|
rs1595446812 CA391833931 |
9 | G>D | No |
ClinGen Ensembl |
|
|
rs1032315539 CA269709479 |
10 | M>V | No |
ClinGen TOPMed |
|
|
CA391833997 rs1450723667 |
11 | A>E | No |
ClinGen gnomAD |
|
|
rs1264995002 CA391833981 |
11 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1247004477 CA391834050 |
14 | G>R | No |
ClinGen TOPMed |
|
|
rs895124797 CA269709485 |
15 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA391834094 rs895124797 |
15 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1463426637 CA391834101 |
16 | A>T | No |
ClinGen TOPMed |
|
|
CA391834114 rs1247333500 |
16 | A>V | No |
ClinGen TOPMed |
|
|
rs1275920628 CA391834146 |
18 | P>S | No |
ClinGen TOPMed |
|
|
rs1218236059 CA391834266 |
21 | P>L | No |
ClinGen TOPMed |
|
|
rs1345287123 CA391834278 |
22 | G>R | No |
ClinGen TOPMed |
|
|
CA391834344 rs1471342827 |
25 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1025177718 CA269709494 |
26 | A>D | No |
ClinGen TOPMed |
|
|
CA391834528 rs1437933816 |
32 | G>R | No |
ClinGen TOPMed |
|
|
CA269709502 rs998883504 |
33 | E>G | No |
ClinGen Ensembl |
|
|
CA269709503 rs970988792 |
35 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA391834778 rs1447397998 |
39 | E>Q | No |
ClinGen TOPMed |
|
|
rs1235172306 CA391835051 |
45 | V>A | No |
ClinGen TOPMed |
|
|
rs1208833842 CA391835085 |
47 | A>T | No |
ClinGen TOPMed |
|
|
CA269709505 rs1015048644 |
49 | A>V | No |
ClinGen TOPMed |
|
|
CA269709508 rs961130085 |
54 | P>S | No |
ClinGen TOPMed |
|
|
CA391835311 rs1335566420 |
55 | R>G | No |
ClinGen gnomAD |
|
|
rs974245350 CA269709515 |
55 | R>Q | No |
ClinGen TOPMed |
|
|
rs1335566420 CA391835306 |
55 | R>W | No |
ClinGen gnomAD |
|
|
CA391835335 rs1595446870 |
56 | A>T | No |
ClinGen Ensembl |
|
|
CA7491919 rs758741387 |
57 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA391835393 rs1361211061 |
58 | G>W | No |
ClinGen gnomAD |
|
|
CA391835408 rs1284190693 |
59 | A>T | No |
ClinGen TOPMed |
|
|
CA391835455 rs919718055 |
61 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA269709526 rs919718055 |
61 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs932292229 CA269709534 |
62 | R>P | No |
ClinGen TOPMed |
|
|
rs985156674 CA269709538 |
64 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 64 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391835558 rs1369671869 |
66 | V>D | No |
ClinGen TOPMed |
|
|
CA391835575 rs1290484206 |
67 | P>S | No |
ClinGen gnomAD |
|
|
rs1290484206 CA391835569 |
67 | P>T | No |
ClinGen gnomAD |
|
|
CA7491920 rs780411374 |
68 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1489820008 CA391835615 |
68 | N>S | No |
ClinGen gnomAD |
|
|
CA391835630 rs1409299579 |
69 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA269709539 rs17855517 |
71 | P>Q | No |
ClinGen Ensembl |
|
|
rs1250913885 CA391835683 |
71 | P>S | No |
ClinGen gnomAD |
|
|
CA391835711 rs1179447802 |
72 | R>L | No |
ClinGen gnomAD |
|
|
rs747448490 CA7491921 |
72 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391835725 rs1245174788 |
73 | A>P | No |
ClinGen gnomAD |
|
|
rs1445533783 CA391835735 |
73 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA391835774 rs1383471747 |
75 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA391835771 rs1383471747 |
75 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA391835849 rs1169028159 |
77 | P>L | No |
ClinGen gnomAD |
|
|
rs1396459937 CA391835869 |
78 | V>A | No |
ClinGen gnomAD |
|
|
rs1339172553 CA391835941 |
81 | Q>H | No |
ClinGen gnomAD |
|
|
CA391835937 rs1595446906 |
81 | Q>R | No |
ClinGen Ensembl |
|
|
rs1384535827 CA391835966 |
83 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA391835980 rs1313661702 |
84 | V>L | No |
ClinGen gnomAD |
|
|
CA391835975 rs1313661702 |
84 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 87 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391836057 rs1229469586 |
88 | E>Q | No |
ClinGen gnomAD |
|
|
CA391836100 rs1251787559 |
89 | P>L | No |
ClinGen gnomAD |
|
|
CA269709561 rs943936402 |
92 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA391836187 rs1244820358 |
92 | P>S | No |
ClinGen gnomAD |
|
|
rs1241309513 CA391836285 |
95 | S>R | No |
ClinGen gnomAD |
|
|
CA391836356 rs1430349720 |
98 | P>T | No |
ClinGen gnomAD |
|
|
CA391836379 rs1372990024 |
99 | P>L | No |
ClinGen gnomAD |
|
|
rs1460976511 CA391836411 |
101 | R>Q | No |
ClinGen gnomAD |
|
|
CA391836423 rs1595446928 |
102 | E>Q | No |
ClinGen Ensembl |
|
|
rs769801208 CA7491925 |
103 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA7491927 rs749490354 |
104 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749490354 CA391836476 |
104 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs993521389 CA269709599 |
105 | C>S | No |
ClinGen TOPMed |
|
|
CA391836583 rs1335711435 |
107 | P>L | No |
ClinGen gnomAD |
|
|
rs1469950762 CA391836573 |
107 | P>S | No |
ClinGen gnomAD |
|
|
CA7491928 rs771836632 |
108 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA7491929 rs546746124 |
108 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs867858165 CA269709618 |
110 | G>D | No |
ClinGen Ensembl |
|
|
rs760607650 CA269709619 |
112 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760607650 CA7491930 |
112 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1216731568 CA391836705 |
113 | H>N | No |
ClinGen gnomAD |
|
|
rs1216731568 CA391836708 |
113 | H>Y | No |
ClinGen gnomAD |
|
|
CA7491931 rs764104815 |
117 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA269709635 rs867223462 |
117 | P>L | No |
ClinGen gnomAD |
|
|
CA391836845 rs867223462 |
117 | P>Q | No |
ClinGen gnomAD |
|
|
rs764104815 CA7491932 |
117 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs761348946 CA7491933 |
118 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA269709641 rs867834646 |
118 | R>H | No |
ClinGen Ensembl |
|
|
rs868147683 CA269709642 |
119 | R>H | No |
ClinGen TOPMed |
|
|
rs868147683 CA391836894 |
119 | R>L | No |
ClinGen TOPMed |
|
|
CA269709646 rs948390791 |
120 | L>F | No |
ClinGen gnomAD |
|
|
rs1261134098 CA391836917 |
120 | L>R | No |
ClinGen gnomAD |
|
|
CA269709650 rs867208390 |
121 | S>Y | No |
ClinGen Ensembl |
|
|
rs764675857 CA7491934 |
122 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs867673755 CA269709651 |
123 | S>* | No |
ClinGen Ensembl |
|
|
CA269709660 rs866191489 |
125 | V>F | No |
ClinGen Ensembl |
|
|
rs936546733 CA269709665 |
127 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA391837082 rs936546733 |
127 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA7491936 rs762516764 |
128 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391837118 rs762516764 |
128 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs935741746 CA269709677 |
129 | G>A | No |
ClinGen Ensembl |
|
|
CA391837133 rs1357059383 |
129 | G>C | No |
ClinGen gnomAD |
|
|
CA269709694 rs867050760 |
131 | S>* | No |
ClinGen Ensembl |
|
|
rs548345908 CA269709686 |
131 | S>P | No |
ClinGen Ensembl |
|
|
CA269709709 rs867572453 |
133 | L>M | No |
ClinGen Ensembl |
|
|
rs891659054 CA391837285 |
136 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA269709726 rs891659054 |
136 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA7491938 rs538709322 |
141 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1299005065 CA391837420 |
142 | L>Q | No |
ClinGen gnomAD |
|
|
CA391837432 rs1318889845 |
143 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1260167330 CA391837507 |
145 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA391837559 rs755383322 |
147 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs755383322 CA7491939 |
147 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 148 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA269709762 rs1012655266 |
148 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA7491940 rs781639159 |
149 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA269709779 rs559198390 |
150 | R>H | No |
ClinGen 1000Genomes gnomAD |
|
|
rs756165323 CA7491942 |
153 | V>L | No |
ClinGen ExAC TOPMed |
|
|
rs200462418 CA269709795 |
154 | Q>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA7491943 rs777726005 |
154 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA391837785 rs1385333476 |
155 | L>P | No |
ClinGen TOPMed |
|
|
rs900437484 CA391837852 |
157 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs900437484 CA391837856 |
157 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs866857596 CA269709796 |
157 | A>T | No |
ClinGen Ensembl |
|
|
rs900437484 CA269709801 |
157 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA391837866 rs1304489279 |
158 | G>S | No |
ClinGen gnomAD |
|
|
CA391837937 rs1458766684 |
160 | D>E | No |
ClinGen gnomAD |
|
|
CA391837951 rs1165812533 |
161 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA391837942 rs1165812533 |
161 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA7491944 rs142355356 |
162 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA391838023 rs1291515234 |
163 | Q>H | No |
ClinGen gnomAD |
|
|
CA7491945 rs771049040 |
163 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7491962 rs757455469 |
164 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391842616 rs1595449682 |
165 | N>T | No |
ClinGen Ensembl |
|
|
rs779238693 CA7491964 |
169 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391842764 rs1472159576 |
171 | R>G | No |
ClinGen gnomAD |
|
|
rs768513082 CA7491965 |
171 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1472159576 CA391842765 |
171 | R>W | No |
ClinGen gnomAD |
|
|
rs1421557643 CA391842782 |
172 | T>S | No |
ClinGen gnomAD |
|
|
rs546709838 CA7491966 |
173 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA269715877 rs1054115412 |
174 | V>A | No |
ClinGen Ensembl |
|
|
rs1207892625 CA391842809 |
174 | V>I | No |
ClinGen TOPMed |
|
|
CA391842832 rs1169615866 |
175 | N>S | No |
ClinGen gnomAD |
|
|
rs1337678450 CA391842858 |
177 | P>R | No |
ClinGen gnomAD |
|
|
rs769604495 COSM470608 CA7491968 |
177 | P>S | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1445891888 CA391842874 |
179 | I>V | No |
ClinGen gnomAD |
|
|
rs1301403301 CA391842896 |
180 | S>N | No |
ClinGen TOPMed |
|
|
rs1272066935 CA391842942 |
183 | K>E | No |
ClinGen gnomAD |
|
|
CA391843005 rs1363184478 |
185 | R>H | No |
ClinGen gnomAD |
|
|
rs1363184478 CA391843004 |
185 | R>L | No |
ClinGen gnomAD |
|
|
rs143540732 CA7491971 |
186 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391843034 rs759196254 |
187 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA7491973 rs759196254 |
187 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1204755856 CA391843060 |
188 | W>* | No |
ClinGen gnomAD |
|
|
CA391843079 rs1263352826 |
189 | V>M | No |
ClinGen gnomAD |
|
|
CA391843102 rs1274803250 |
190 | Q>* | No |
ClinGen gnomAD |
|
|
rs1595449742 CA919539096 |
193 | G>D | No |
ClinGen Ensembl |
|
|
rs1391421475 CA391843169 |
193 | G>R | No |
ClinGen TOPMed |
|
|
CA391843207 rs1595449753 |
194 | H>L | No |
ClinGen Ensembl |
|
|
CA391843196 rs1595449748 |
194 | H>N | No |
ClinGen Ensembl |
|
|
rs1041422465 CA269715893 |
195 | T>S | No |
ClinGen Ensembl |
|
|
rs1283264764 CA391843362 |
196 | G>E | No |
ClinGen gnomAD |
|
|
rs1361431144 CA391843497 |
200 | A>V | No |
ClinGen gnomAD |
|
|
rs1223155460 CA391843520 |
201 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1223155460 CA391843522 |
201 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs367644899 CA269715992 |
202 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1595449849 CA391843544 |
202 | G>C | No |
ClinGen Ensembl |
|
|
rs367644899 CA7491994 |
202 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7491995 rs776947765 |
203 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA391843575 rs1233653012 |
204 | S>C | No |
ClinGen gnomAD |
|
|
CA391843592 rs1185212593 |
205 | G>R | No |
ClinGen TOPMed |
|
|
CA391843609 rs1441712000 |
206 | L>P | No |
ClinGen TOPMed |
|
|
CA7491996 rs762417088 |
207 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA391843660 rs1156858246 |
210 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs765913011 CA7491997 |
212 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758598040 CA7491999 |
213 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1389258083 CA391843725 |
213 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1282730605 CA391843739 |
214 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs766479102 CA7492000 |
214 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1244525760 CA391843760 |
215 | E>* | No |
ClinGen TOPMed |
|
|
CA391843796 rs1341556752 |
216 | R>L | No |
ClinGen TOPMed |
|
|
rs755813046 CA7492003 |
217 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA391843877 rs1244932249 |
219 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1384399395 CA391843866 |
219 | L>V | No |
ClinGen gnomAD |
|
|
CA391843898 rs1264769167 |
220 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA391843905 rs1264769167 |
220 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1354233027 CA391843912 |
221 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs777632933 CA391843923 |
221 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7492004 rs777632933 |
221 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391843913 rs1354233027 |
221 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs749154650 CA7492005 |
223 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA7492006 rs372904283 |
224 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7492007 rs778873563 |
224 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7492009 rs569555910 COSM2270436 |
228 | R>C | urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA7492010 rs774960957 |
229 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA269716047 rs981625537 |
230 | C>F | No |
ClinGen Ensembl |
|
|
rs1471592303 CA391844152 |
233 | A>D | No |
ClinGen TOPMed |
|
|
CA7492011 rs186875136 |
233 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768837113 CA7492012 |
235 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7492013 rs777132600 |
236 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1464739931 CA391844264 |
237 | V>M | No |
ClinGen gnomAD |
|
|
CA391844351 rs1407906941 |
241 | D>Y | No |
ClinGen gnomAD |
|
|
rs773894528 CA7492016 |
242 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1287341129 CA391844412 |
244 | S>G | No |
ClinGen TOPMed |
|
|
rs1295546720 CA391844628 |
251 | L>Q | No |
ClinGen TOPMed |
|
|
CA391844688 rs759804092 |
253 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7492020 rs759804092 |
253 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146892879 CA7492022 |
256 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391844776 rs1461982946 |
256 | D>H | No |
ClinGen gnomAD |
|
|
rs1254180479 CA391844816 CA391844805 |
257 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA391844913 rs1406221003 |
261 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA269716099 rs201247256 |
265 | M>I | No |
ClinGen 1000Genomes |
|
|
CA391845310 rs1447811516 |
276 | T>I | No |
ClinGen gnomAD |
|
|
rs1374806005 CA391845353 |
279 | R>C | No |
ClinGen gnomAD |
|
|
rs775636995 CA7492057 |
279 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1291192698 CA391845368 |
280 | E>A | No |
ClinGen gnomAD |
|
|
CA391845387 rs1321707987 |
281 | R>L | No |
ClinGen gnomAD |
|
|
rs1321707987 CA391845384 |
281 | R>Q | No |
ClinGen gnomAD |
|
|
rs867711236 COSM1211091 CA269716194 |
281 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA7492058 rs560905871 |
282 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1253456640 CA391845431 |
285 | R>W | No |
ClinGen gnomAD |
|
|
CA269716201 rs373484451 CA391845454 |
286 | K>N | No |
ClinGen ESP |
|
|
rs762706476 CA7492061 |
288 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA391845497 rs1434124614 |
289 | Y>S | No |
ClinGen gnomAD |
|
| TCGA novel | 290 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7492062 rs766307880 |
292 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA7492063 rs751480830 |
293 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 300 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752327452 CA7492066 |
301 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752327452 CA7492067 |
301 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391845641 rs1166305288 |
302 | E>G | No |
ClinGen TOPMed |
|
|
rs749639486 CA7492069 |
303 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757597248 CA7492070 |
306 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391845690 rs1454636944 |
306 | A>S | No |
ClinGen gnomAD |
|
|
CA269716219 rs757597248 |
306 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs993563205 CA269716222 |
307 | Q>E | No |
ClinGen TOPMed |
|
|
rs1227123354 CA391845714 |
308 | R>C | No |
ClinGen gnomAD |
|
|
CA7492071 rs779430196 |
308 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1198465863 CA391845725 |
309 | A>D | No |
ClinGen gnomAD |
|
|
CA391845721 rs1318995469 |
309 | A>T | No |
ClinGen gnomAD |
|
|
rs772076582 COSM1372778 CA7492073 |
310 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA7492074 rs150465612 |
313 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1482857957 CA391845773 |
313 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs150465612 CA7492075 |
313 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 314 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 314 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA269716238 rs77491131 |
320 | E>G | No |
ClinGen Ensembl |
|
|
CA391845883 rs1272626999 |
321 | G>V | No |
ClinGen TOPMed |
|
|
rs1421755663 CA391845900 |
323 | S>G | No |
ClinGen gnomAD |
|
|
rs776759495 CA7492077 |
323 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1358681313 CA391845923 |
325 | S>G | No |
ClinGen gnomAD |
|
|
rs1445959211 CA391845952 |
327 | T>I | No |
ClinGen gnomAD |
|
|
CA391845944 rs1595450372 |
327 | T>P | No |
ClinGen Ensembl |
|
|
rs1218403357 CA391845972 |
329 | G>D | No |
ClinGen gnomAD |
|
|
rs1216110209 CA391845989 |
330 | F>L | No |
ClinGen TOPMed |
|
|
CA391846031 rs1315619821 |
334 | G>V | No |
ClinGen gnomAD |
|
|
rs762767366 CA7492078 |
335 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747062181 CA7492095 |
338 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs758806990 CA269716347 |
339 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 339 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7492097 rs781426159 |
340 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA7492098 rs748330626 |
341 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1323392557 CA391846476 |
349 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM961421 CA391846481 rs574486119 |
350 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA391846487 rs1438281000 |
350 | R>Q | No |
ClinGen gnomAD |
|
|
CA391846508 rs1595450838 |
351 | S>T | No |
ClinGen Ensembl |
|
|
CA391846555 rs1481479997 |
353 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 354 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772110668 CA7492102 |
355 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391846667 rs1377038982 |
357 | R>P | No |
ClinGen gnomAD |
|
|
rs1238851693 CA391846730 |
360 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 361 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775606125 CA7492103 |
364 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775606125 CA391846819 |
364 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7492104 rs760217128 |
364 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1387794613 CA391846844 |
365 | G>R | No |
ClinGen TOPMed |
|
|
rs553718435 CA7492105 |
367 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs761372084 CA7492107 |
368 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA7492106 rs145328827 |
368 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA391847269 rs755436645 |
372 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755436645 CA391847267 |
372 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755436645 CA7492131 |
372 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391847329 rs1595451257 |
375 | N>T | No |
ClinGen Ensembl |
|
|
CA391847350 rs1345755400 |
376 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA391847344 rs1345755400 |
376 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7492133 rs752693895 |
379 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1262983833 CA391847510 |
381 | R>L | No |
ClinGen gnomAD |
|
| TCGA novel | 381 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA269716455 rs867967198 |
382 | D>E | No |
ClinGen Ensembl |
|
|
rs1266290276 CA391847514 |
382 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA391847519 rs1266290276 |
382 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs756255009 CA7492134 |
383 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs919023895 CA269716458 |
383 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1167832017 CA391847596 |
385 | E>K | No |
ClinGen gnomAD |
|
|
CA391847642 rs1284980653 |
386 | V>A | No |
ClinGen TOPMed |
|
|
CA391847627 rs1466053235 |
386 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 388 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 389 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391847736 rs1373552974 |
390 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 391 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201490754 CA7492136 |
392 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA391847821 rs1472258034 |
393 | H>L | No |
ClinGen gnomAD |
|
|
CA391847851 rs1302979139 |
394 | E>K | No |
ClinGen TOPMed |
|
|
rs767943853 CA7492171 |
395 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1457248710 CA391848119 |
397 | G>R | No |
ClinGen gnomAD |
|
|
rs1324079543 CA391848149 |
398 | S>N | No |
ClinGen gnomAD |
|
|
rs1447523908 CA391848185 |
399 | S>L | No |
ClinGen gnomAD |
|
|
CA7492174 rs764759144 |
400 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1230579405 CA391848300 |
403 | V>M | No |
ClinGen gnomAD |
|
|
CA391848326 rs757453229 |
405 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7492176 rs757453229 |
405 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA391848361 rs1376903907 |
406 | H>P | No |
ClinGen TOPMed |
|
|
CA7492177 rs765516106 |
406 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA391848359 rs1231866883 |
406 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA7492178 rs750682391 |
408 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754673558 CA7492179 |
409 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754673558 CA391848437 |
409 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1183489890 CA391848470 |
410 | A>V | No |
ClinGen gnomAD |
|
|
CA7492182 rs376720541 |
411 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7492181 rs376720541 |
411 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1595451626 CA391848509 |
412 | V>G | No |
ClinGen Ensembl |
|
|
rs1316136057 CA391848501 |
412 | V>L | No |
ClinGen gnomAD |
|
|
CA391848498 rs1316136057 |
412 | V>M | No |
ClinGen gnomAD |
|
|
CA391848588 rs1162534117 |
415 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA391848675 rs1170029913 |
418 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7492186 rs778377389 |
421 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA269716511 rs1007833063 |
421 | T>M | No |
ClinGen TOPMed |
|
|
CA7492187 rs745545484 |
422 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1379096344 CA391848751 |
422 | P>S | No |
ClinGen gnomAD |
|
|
rs375904304 CA391848794 |
424 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375904304 CA7492188 |
424 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391848787 rs1319535306 |
424 | P>S | No |
ClinGen gnomAD |
|
|
rs760994275 CA7492190 |
425 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA7492189 rs775913660 |
425 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA391848818 rs1211635872 |
426 | G>S | No |
ClinGen gnomAD |
|
|
CA7492193 rs761938864 |
433 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391849029 rs1478253145 |
434 | P>L | No |
ClinGen gnomAD |
|
|
CA391849122 rs1273527132 |
438 | G>D | No |
ClinGen TOPMed |
|
|
CA269716525 rs370243619 |
443 | G>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA391849238 rs370243619 |
443 | G>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA391849374 rs756697444 |
449 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA269716532 rs753794514 |
449 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7492202 rs756697444 |
449 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA7492201 rs753794514 |
449 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771734285 CA7492205 |
452 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA7492204 rs200665977 |
452 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7492206 rs137962153 |
453 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs137962153 CA391849477 |
453 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747341736 CA7492207 |
454 | I>V | No |
ClinGen ExAC |
|
|
CA391849499 rs769168955 |
455 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA269716541 rs1043317903 |
456 | A>G | No |
ClinGen TOPMed |
|
|
rs762417213 CA7492210 |
458 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391849621 rs1476213878 |
459 | A>D | No |
ClinGen TOPMed |
|
|
rs906024508 CA269716545 |
459 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 460 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with P23677
No regional properties for P23677
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P23677 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.1.127 | Phosphotransferases with an alcohol group as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| dendritic spine | A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity. |
| 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. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
| calmodulin-dependent protein kinase activity | Calmodulin-dependent catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; and ATP + a protein threonine = ADP + protein threonine phosphate. |
| inositol hexakisphosphate kinase activity | Catalysis of the reaction: ATP + 1D-myo-inositol 1,2,3,4,5,6-hexakisphosphate = ADP + diphospho-1D-myo-inositol-pentakisphosphate. The isomeric configuration of diphospho-1D-myo-inositol-pentakisphosphate (PP-IP5) is unknown. |
| inositol-1,4,5-trisphosphate 3-kinase activity | Catalysis of the reaction: 1D-myo-inositol 1,4,5-trisphosphate + ATP = 1D-myo-inositol 1,3,4,5-tetrakisphosphate + ADP + 2 H(+). |
| kinase activity | Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. |
| small GTPase binding | Binding to a small monomeric GTPase. |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| actin cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
| cellular response to calcium ion | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium ion stimulus. |
| dendritic spine maintenance | The organization process that preserves a dendritic spine in a stable functional or structural state. A dendritic spine is a specialized protrusion from a neuronal dendrite and is involved in synaptic transmission. |
| inositol metabolic process | The chemical reactions and pathways involving inositol, 1,2,3,4,5,6-cyclohexanehexol, a growth factor for animals and microorganisms. |
| inositol phosphate biosynthetic process | The chemical reactions and pathways resulting in the formation of an inositol phosphate, 1,2,3,4,5,6-cyclohexanehexol, with one or more phosphate groups attached. |
| 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 dendritic spine morphogenesis | Any process that increases the rate, frequency, or extent of dendritic spine morphogenesis, the process in which the anatomical structures of a dendritic spine are generated and organized. A dendritic spine is a protrusion from a dendrite and a specialized subcellular compartment involved in synaptic transmission. |
| regulation of synaptic plasticity | A process that modulates synaptic plasticity, the ability of synapses to change as circumstances require. They may alter function, such as increasing or decreasing their sensitivity, or they may increase or decrease in actual numbers. |
| response to calcium ion | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium ion stimulus. |
| 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. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q96DU7 | ITPKC | Inositol-trisphosphate 3-kinase C | Homo sapiens (Human) | PR |
| Q92551 | IP6K1 | Inositol hexakisphosphate kinase 1 | Homo sapiens (Human) | PR |
| P27987 | ITPKB | Inositol-trisphosphate 3-kinase B | Homo sapiens (Human) | PR |
| Q8R071 | Itpka | Inositol-trisphosphate 3-kinase A | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTLPGGPTGM | ARPGGARPCS | PGLERAPRRS | VGELRLLFEA | RCAAVAAAAA | AGEPRARGAK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RRGGQVPNGL | PRAPPAPVIP | QLTVTAEEPD | VPPTSPGPPE | RERDCLPAAG | SSHLQQPRRL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| STSSVSSTGS | SSLLEDSEDD | LLSDSESRSR | GNVQLEAGED | VGQKNHWQKI | RTMVNLPVIS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PFKKRYAWVQ | LAGHTGSFKA | AGTSGLILKR | CSEPERYCLA | RLMADALRGC | VPAFHGVVER |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DGESYLQLQD | LLDGFDGPCV | LDCKMGVRTY | LEEELTKARE | RPKLRKDMYK | KMLAVDPEAP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TEEEHAQRAV | TKPRYMQWRE | GISSSTTLGF | RIEGIKKADG | SCSTDFKTTR | SREQVLRVFE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EFVQGDEEVL | RRYLNRLQQI | RDTLEVSEFF | RRHEVIGSSL | LFVHDHCHRA | GVWLIDFGKT |
| 430 | 440 | 450 | 460 | ||
| TPLPDGQILD | HRRPWEEGNR | EDGYLLGLDN | LIGILASLAE | R |