O94811
Gene name |
TPPP |
Protein name |
Tubulin polymerization-promoting protein |
Names |
TPPP, 25 kDa brain-specific protein, TPPP/p25, p24, p25-alpha |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:11076 |
EC number |
|
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 O94811
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O94811-F1 | Predicted | AlphaFoldDB |
196 variants for O94811
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA3177480 rs746467325 |
2 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs62330308 CA112854032 |
5 | A>D | No |
ClinGen Ensembl |
|
|
CA359041032 rs1414256346 |
6 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3177479 rs779430730 |
6 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1561089461 CA359040979 |
9 | K>N | No |
ClinGen Ensembl |
|
|
rs1169389134 CA359040973 |
10 | A>T | No |
ClinGen gnomAD |
|
|
rs750125717 CA3177477 |
12 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3177476 rs765035106 |
13 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs536441219 CA3177475 |
13 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754225798 CA3177474 |
14 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359040885 rs1235945329 |
15 | P>L | No |
ClinGen gnomAD |
|
|
rs761102203 CA3177472 |
15 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA359040875 rs1441579544 |
16 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs759660370 CA3177468 |
19 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771208038 CA3177466 |
20 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1326647609 CA359040764 |
22 | P>S | No |
ClinGen TOPMed |
|
|
CA3177463 rs375949324 |
23 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3177464 rs538571986 |
23 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779571406 CA3177461 |
25 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3177459 rs371401446 |
26 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA3177460 rs757964583 |
26 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1166376461 CA359040665 |
27 | A>E | No |
ClinGen gnomAD |
|
|
rs1166376461 CA359040671 |
27 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 28 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3177458 rs570878136 COSM1132129 |
30 | R>K | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA359040611 rs570878136 |
30 | R>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757029406 CA3177457 |
31 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs754176094 CA3177456 |
32 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA359040552 rs1187127409 |
34 | E>Q | No |
ClinGen TOPMed |
|
|
rs370108467 CA359040522 |
35 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370108467 CA3177450 |
35 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759605283 CA3177451 |
35 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs370108467 CA359040519 |
35 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1455635672 CA359040487 |
37 | G>A | No |
ClinGen TOPMed |
|
|
rs1287169458 CA359040492 |
37 | G>S | No |
ClinGen gnomAD |
|
|
CA3177447 rs776442248 |
38 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA112853849 rs386684289 |
39 | G>A | No |
ClinGen Ensembl |
|
|
rs61731452 CA3177443 RCV000946828 |
39 | G>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs151029018 CA3177445 |
39 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61731452 CA3177444 |
39 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA359040434 rs1332176157 |
40 | E>V | No |
ClinGen gnomAD |
|
|
CA359040407 rs1327091842 |
41 | G>V | No |
ClinGen gnomAD |
|
|
CA3177442 rs745360667 |
42 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 42 | A>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1323001547 CA359040392 |
42 | A>V | No |
ClinGen gnomAD |
|
|
CA112853828 rs61731453 |
43 | A>S | No |
ClinGen Ensembl |
|
|
rs770643131 CA3177440 |
44 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1447420944 CA359040320 |
46 | P>H | No |
ClinGen gnomAD |
|
|
rs1397265561 CA359040279 |
48 | L>P | No |
ClinGen gnomAD |
|
|
CA359040271 rs1489435847 |
49 | S>I | No |
ClinGen gnomAD |
|
|
CA3177439 rs748925097 |
50 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359040246 COSM1438515 rs1220144619 |
50 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 52 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200264279 CA3177437 |
53 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1047173226 CA112853796 |
53 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3177438 COSM1695331 rs778150992 |
53 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA112853780 rs370031409 |
54 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3177436 rs370031409 |
54 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs528458616 CA3177434 |
56 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751569987 CA3177433 |
56 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs528458616 CA3177435 |
56 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3177432 rs377528137 |
57 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA112853749 rs920050237 |
57 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs868224748 CA112853739 |
59 | A>V | No |
ClinGen Ensembl |
|
|
CA112853720 rs147824661 |
60 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3177429 rs147824661 |
60 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs772078187 CA3177426 CA359040051 |
62 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3177425 rs200010438 |
63 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359040002 rs144404274 |
64 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144404274 CA3177423 |
64 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs142104899 CA3177420 |
68 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA359039937 rs142104899 |
68 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3177416 rs535424103 |
71 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1301173646 CA359039869 |
72 | H>D | No |
ClinGen gnomAD |
|
|
rs780583434 CA359039846 CA112853623 |
72 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1301173646 CA359039868 |
72 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs758380811 CA3177414 |
73 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750587089 CA3177413 |
77 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA112853601 rs750587089 |
77 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3177411 rs757517768 |
79 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 83 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359039519 rs1434933315 |
85 | V>M | No |
ClinGen TOPMed |
|
|
CA359039470 rs1467375576 |
87 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA359039473 rs1467375576 |
87 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3177408 rs759499130 |
88 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1413473902 CA359039427 |
89 | R>K | No |
ClinGen gnomAD |
|
|
CA359039379 rs1305624596 |
91 | V>M | No |
ClinGen gnomAD |
|
|
CA3177405 rs762357148 |
92 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA3177402 rs371009510 |
93 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA112853581 rs893812212 |
98 | I>V | No |
ClinGen TOPMed |
|
|
CA3177399 rs374117987 |
99 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA112853561 rs1038490634 |
101 | S>R | No |
ClinGen TOPMed |
|
|
rs924093775 CA112853553 |
102 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1191730630 CA359039102 |
103 | I>V | No |
ClinGen TOPMed |
|
|
rs1473908818 CA359035666 |
105 | G>R | No |
ClinGen gnomAD |
|
|
CA359035645 rs1580072668 |
106 | K>M | No |
ClinGen Ensembl |
|
|
CA3177319 rs768821190 |
109 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs768821190 CA3177318 |
109 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs748214010 CA3177320 |
109 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA359035575 rs745621126 |
110 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3177317 rs745621126 |
110 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282985175 CA359035521 |
115 | Q>E | No |
ClinGen gnomAD |
|
|
rs1330708729 CA359035490 |
117 | Q>R | No |
ClinGen gnomAD |
|
|
rs749246726 CA3177314 |
119 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs749246726 CA359035465 |
119 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3177312 rs755620478 |
120 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs569786637 CA112835606 |
124 | A>T | No |
ClinGen TOPMed |
|
|
CA3177310 rs767137996 |
126 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs754589560 CA3177309 |
127 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA359035383 rs751932777 |
127 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA3177308 rs751932777 |
127 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs139049812 CA112835599 |
130 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs1018122715 | 130 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139049812 CA3177307 |
130 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763456851 CA3177306 |
131 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA3177303 rs150708894 |
132 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3177302 rs761937617 |
132 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs370610823 CA359035312 |
133 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775980060 CA3177300 |
134 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3177299 rs775980060 |
134 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474399057 CA359035295 |
135 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA359035298 rs1190393182 |
135 | E>K | No |
ClinGen gnomAD |
|
|
rs1474399057 CA359035292 |
135 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3177296 rs749121992 |
137 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200582979 CA3177295 |
138 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200582979 CA359035273 |
138 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs371896286 CA3177294 |
138 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs371896286 CA112835543 |
138 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs142977897 CA3177292 |
139 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747626300 CA3177293 |
139 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1201662379 CA359035263 |
140 | V>L | No |
ClinGen TOPMed |
|
|
rs1048417660 CA359035235 |
144 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1580072378 CA359035233 |
144 | I>T | No |
ClinGen Ensembl |
|
|
rs1048417660 CA112835540 |
144 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 145 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1473332977 CA359035227 |
145 | E>A | No |
ClinGen TOPMed |
|
|
CA359035230 rs1248170111 |
145 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 146 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3177289 rs139757569 |
148 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139757569 CA3177290 |
148 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA359035199 rs1430685035 |
149 | P>L | No |
ClinGen gnomAD |
|
|
CA3177287 rs750871816 |
151 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1478685789 CA359035169 |
154 | V>G | No |
ClinGen gnomAD |
|
|
rs762232901 CA3177284 |
154 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1266187364 CA359035167 |
155 | T>A | No |
ClinGen gnomAD |
|
|
CA3177283 rs142128231 |
155 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142128231 CA359035164 |
155 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359035150 rs1379712492 |
156 | K>E | No |
ClinGen TOPMed |
|
|
rs1335924594 CA359035125 |
159 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1390144157 CA359035119 |
160 | S>L | No |
ClinGen gnomAD |
|
|
rs904005324 CA112835084 |
161 | P>R | No |
ClinGen TOPMed |
|
|
rs1303367135 CA359035107 |
163 | V>M | No |
ClinGen TOPMed |
|
|
CA3177242 rs745541895 |
164 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359035096 rs1385012886 |
165 | R>G | No |
ClinGen gnomAD |
|
|
rs1186270876 CA359035094 |
165 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs757531846 CA3177240 |
167 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359035057 rs1245575409 |
171 | K>E | No |
ClinGen TOPMed |
|
|
rs1204626526 CA359035039 |
173 | T>M | No |
ClinGen gnomAD |
|
|
CA359035032 rs1561079576 |
174 | G>A | No |
ClinGen Ensembl |
|
|
CA359035017 rs1270167206 |
176 | H>Q | No |
ClinGen TOPMed |
|
|
rs767604979 CA3177234 |
179 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766686208 CA3177231 |
181 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766686208 COSM1069541 CA3177232 |
181 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs534292159 CA112835026 |
182 | P>L | No |
ClinGen 1000Genomes |
|
|
CA3177230 rs761496826 |
183 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs768645745 CA3177228 |
185 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA3177227 rs760728231 |
187 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA359034928 rs1364625285 |
189 | K>Q | No |
ClinGen gnomAD |
|
|
CA112834987 rs919720194 |
192 | R>C | No |
ClinGen TOPMed |
|
|
rs745415593 CA3177222 |
192 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs770675558 CA3177220 |
193 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138152607 CA3177218 CA359034829 |
197 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA359034839 rs1490242326 |
197 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA359034841 rs1490242326 |
197 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3177216 rs748630491 |
198 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781693901 CA3177215 |
199 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751715567 CA3177213 |
200 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1187324219 CA359034806 |
200 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA359034773 rs1284619208 |
202 | V>A | No |
ClinGen gnomAD |
|
|
rs758647631 CA3177211 |
203 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3177209 rs764006684 |
204 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1394784071 CA359034747 |
205 | Y>H | No |
ClinGen gnomAD |
|
|
CA3177207 rs550883414 |
208 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1379933580 CA359034698 |
209 | G>R | No |
ClinGen gnomAD |
|
|
rs1174331335 CA359034682 |
210 | T>I | No |
ClinGen gnomAD |
|
|
CA3177205 rs758956291 |
212 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773926512 CA3177204 |
213 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773926512 CA112834935 |
213 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770425518 CA3177203 |
213 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1248189898 CA359034631 |
214 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA359034624 rs1195057918 |
215 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA359034628 rs1195057918 |
215 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA359034599 rs1561079383 |
217 | G>A | No |
ClinGen Ensembl |
|
|
rs1345590978 CA359034602 |
217 | G>R | No |
ClinGen gnomAD |
|
|
CA359034591 rs1322228236 |
218 | G>D | No |
ClinGen gnomAD |
|
|
rs1221140806 CA359034596 |
218 | G>S | No |
ClinGen TOPMed gnomAD |
No associated diseases with O94811
No regional properties for O94811
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for O94811 | |||
Functions
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| microtubule | Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| mitotic spindle | A spindle that forms as part of mitosis. Mitotic and meiotic spindles contain distinctive complements of proteins associated with microtubules. |
| 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. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| postsynaptic Golgi apparatus | The network of the Golgi apparatus structures located within the postsynapse. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTPase activity | Catalysis of the reaction: GTP + H2O = GDP + H+ + phosphate. |
| magnesium ion binding | Binding to a magnesium (Mg) ion. |
| microtubule binding | Binding to a microtubule, a filament composed of tubulin monomers. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| tubulin binding | Binding to monomeric or multimeric forms of tubulin, including microtubules. |
13 GO annotations of biological process
| Name | Definition |
|---|---|
| astral microtubule organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of astral microtubules, any of the spindle microtubules that radiate in all directions from the spindle poles. |
| cell division | The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. |
| microtubule bundle formation | A process that results in a parallel arrangement of microtubules. |
| microtubule nucleation by microtubule organizing center | The 'de novo' formation of a microtubule, mediated by the microtubule organizing center. |
| microtubule polymerization | The addition of tubulin heterodimers to one or both ends of a microtubule. |
| myelin assembly | The process in which the wraps of cell membrane that constitute myelin are laid down around an axon in the central or peripheral nervous system. |
| negative regulation of tubulin deacetylation | Any process that stops, prevents or reduces the frequency, rate or extent of tubulin deacetylation. |
| oligodendrocyte development | The process aimed at the progression of an oligodendrocyte over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. An oligodendrocyte is a type of glial cell involved in myelinating the axons in the central nervous system. |
| oligodendrocyte differentiation | The process in which a relatively unspecialized cell acquires the specialized features of an oligodendrocyte. An oligodendrocyte is a type of glial cell involved in myelinating the axons of neurons in the central nervous system. |
| positive regulation of myelination | Any process that activates or increases the frequency, rate or extent of the formation of a myelin sheath around nerve axons. |
| positive regulation of protein polymerization | Any process that activates or increases the frequency, rate or extent of the process of creating protein polymers. |
| positive regulation of protein-containing complex assembly | Any process that activates or increases the frequency, rate or extent of protein complex assembly. |
| regulation of microtubule cytoskeleton organization | Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MADKAKPAKA | ANRTPPKSPG | DPSKDRAAKR | LSLESEGAGE | GAAASPELSA | LEEAFRRFAV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| HGDARATGRE | MHGKNWSKLC | KDCQVIDGRN | VTVTDVDIVF | SKIKGKSCRT | ITFEQFQEAL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EELAKKRFKD | KSSEEAVREV | HRLIEGKAPI | ISGVTKAISS | PTVSRLTDTT | KFTGSHKERF |
| 190 | 200 | 210 | |||
| DPSGKGKGKA | GRVDLVDESG | YVSGYKHAGT | YDQKVQGGK |