Q15311
Gene name |
RALBP1 |
Protein name |
RalA-binding protein 1 |
Names |
RalBP1, 76 kDa Ral-interacting protein, Dinitrophenyl S-glutathione ATPase, DNP-SG ATPase, Ral-interacting protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10928 |
EC number |
7.6.2.2: Linked to the hydrolysis of a nucleoside triphosphate |
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
403 variants for Q15311
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA296501974 rs1043762986 |
7 | P>A | No |
ClinGen TOPMed |
|
|
CA8888816 rs758096977 |
10 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1419724435 CA402026746 |
11 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1476747366 CA402026758 |
12 | P>L | No |
ClinGen gnomAD |
|
|
CA296501975 rs200050154 |
13 | S>I | No |
ClinGen 1000Genomes |
|
|
CA296501976 rs902526740 |
14 | E>K | No |
ClinGen TOPMed |
|
|
CA8888820 rs781728639 |
15 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8888821 rs147413500 |
16 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8888823 rs780034442 |
16 | R>H | Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs780034442 CA8888824 |
16 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA8888822 rs147413500 |
16 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757096143 CA296501977 |
17 | R>G | No |
ClinGen Ensembl |
|
|
CA8888825 rs769017781 |
19 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA402026815 rs1397873355 |
21 | G>V | No |
ClinGen gnomAD |
|
|
CA402026824 rs1218477238 |
23 | G>R | No |
ClinGen gnomAD |
|
|
CA402026839 rs1342108463 |
25 | T>N | No |
ClinGen gnomAD |
|
|
CA402026845 rs1275937007 |
26 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA8888828 rs770691521 |
26 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8888829 rs776629059 |
27 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1568066988 CA402026848 |
27 | T>S | No |
ClinGen Ensembl |
|
|
CA8888830 rs759433095 |
28 | P>A | No |
ClinGen ExAC |
|
|
rs764783166 CA8888831 |
34 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1437621789 CA402026911 |
36 | T>I | No |
ClinGen TOPMed |
|
|
CA8888832 rs775003296 |
37 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1315759219 CA402026944 |
41 | L>F | No |
ClinGen TOPMed |
|
|
CA8888834 rs763740122 |
43 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402026955 rs763740122 |
43 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371220710 CA8888835 |
43 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8888836 rs371220710 |
43 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767833937 CA8888837 |
44 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA402026967 rs1598866888 |
45 | G>V | No |
ClinGen Ensembl |
|
|
rs756625374 CA8888839 |
46 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA402026968 rs1175748978 |
46 | E>K | No |
ClinGen gnomAD |
|
|
rs1159933902 CA402026977 |
47 | P>S | No |
ClinGen TOPMed |
|
|
rs1299219768 CA402026984 |
48 | S>* | No |
ClinGen gnomAD |
|
|
rs1299219768 CA402026986 |
48 | S>L | No |
ClinGen gnomAD |
|
|
CA8888840 rs780128985 |
49 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA402027015 rs1274828993 |
53 | I>V | No |
ClinGen gnomAD |
|
|
rs1424359754 CA402027030 |
55 | H>R | No |
ClinGen TOPMed |
|
|
rs902011808 CA296501981 |
55 | H>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 56 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402027046 rs779267531 |
57 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779267531 CA8888843 |
57 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748451387 CA8888844 |
58 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402027063 rs1598866928 |
60 | V>A | No |
ClinGen Ensembl |
|
|
CA8888845 rs770730661 |
60 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA402027061 rs770730661 |
60 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA402027069 rs1598866930 |
61 | V>A | No |
ClinGen Ensembl |
|
|
rs774913295 CA8888849 |
62 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs201602095 CA8888848 |
62 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs762462985 CA8888850 |
65 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 67 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA296501982 rs866604250 |
68 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 69 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8888852 rs780587928 |
73 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1159408634 | 73 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 76 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1382621246 CA402027202 |
79 | E>D | No |
ClinGen gnomAD |
|
|
rs1276616875 CA402027248 |
84 | G>D | No |
ClinGen TOPMed |
|
|
CA402027254 rs1163064366 |
85 | Y>S | No |
ClinGen gnomAD |
|
|
CA8888872 rs769713781 |
87 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs779952908 CA8888873 |
89 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA8888874 rs375010086 |
91 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8888875 rs768120613 |
92 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 98 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402027358 rs1381571725 |
100 | P>S | No |
ClinGen TOPMed |
|
|
CA402027365 rs1377282463 |
101 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs773896430 CA8888876 |
101 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs773896430 CA402027366 |
101 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA402027382 rs1242280667 |
103 | M>I | No |
ClinGen gnomAD |
|
|
CA8888878 rs372081924 |
106 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773572577 CA8888879 |
107 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1256144543 CA402027424 |
109 | I>M | No |
ClinGen gnomAD |
|
|
rs1423321580 CA402027427 |
110 | H>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 111 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402027495 rs1252858294 |
119 | K>R | No |
ClinGen gnomAD |
|
|
CA402027516 rs1187155046 |
122 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 123 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754367555 CA402027587 |
131 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8888882 rs754367555 |
131 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313625410 CA402027595 |
132 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA296502283 rs74838839 |
136 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs765360108 CA8888885 |
136 | H>Q | No |
ClinGen ExAC |
|
|
CA8888884 rs74838839 |
136 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA402027648 rs1253381444 |
139 | E>G | No |
ClinGen TOPMed |
|
| rs1298277625 | 139 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1393902407 CA402027673 |
142 | K>T | No |
ClinGen gnomAD |
|
|
rs752752885 CA8888887 |
144 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758579995 CA8888888 |
147 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs11559053 CA296502284 |
149 | K>E | No |
ClinGen Ensembl |
|
|
CA402027739 rs1416462334 |
151 | S>A | No |
ClinGen gnomAD |
|
|
rs1276152269 CA402027745 |
152 | K>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 152 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 153 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8888889 rs139161232 |
155 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1598868095 CA402027888 |
171 | K>R | No |
ClinGen Ensembl |
|
|
CA402027895 rs1253119951 |
172 | P>Q | No |
ClinGen gnomAD |
|
|
rs1228193650 CA402027894 |
172 | P>S | No |
ClinGen gnomAD |
|
|
rs117752793 CA402027898 |
173 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs117752793 CA8888891 |
173 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA296502285 rs778373139 |
174 | Q>R | No |
ClinGen Ensembl |
|
|
CA402027923 rs1486818576 |
176 | P>L | No |
ClinGen gnomAD |
|
|
CA8888892 rs149502553 |
176 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768599467 CA8888894 |
178 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1197226444 CA402027938 |
179 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA8888895 rs375158770 |
179 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771674965 CA8888897 |
180 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs530667248 CA296502286 |
180 | Q>P | No |
ClinGen 1000Genomes gnomAD |
|
|
CA402027959 rs1375685239 |
182 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8888898 rs772740129 |
183 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA402027963 rs772740129 |
183 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs552330033 CA8888899 |
186 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 187 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8888900 rs771403375 |
187 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA402027996 rs1470689129 |
188 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA402028011 rs1438981187 |
190 | F>S | No |
ClinGen TOPMed |
|
| TCGA novel | 192 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1382689067 CA402028030 |
193 | P>A | No |
ClinGen gnomAD |
|
|
rs1297707280 CA402028044 |
195 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1297707280 CA402028045 |
195 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA402028061 rs1435183098 |
198 | V>I | No |
ClinGen gnomAD |
|
|
CA8888901 rs368559132 |
203 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402028101 rs1329412459 |
203 | M>T | No |
ClinGen gnomAD |
|
|
CA8888902 rs760082264 |
204 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457460691 CA402028105 |
204 | Y>D | No |
ClinGen TOPMed |
|
|
CA8888903 rs765845733 CA402028118 |
205 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs28552921 CA402028135 |
208 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8888904 rs28552921 RCV000966253 |
208 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1214857225 CA402028133 |
208 | R>W | No |
ClinGen gnomAD |
|
|
CA8888907 rs751698054 |
212 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1192859734 CA402028169 |
214 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA8888909 rs114518459 |
217 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1484750520 CA402028196 |
218 | D>H | No |
ClinGen TOPMed |
|
|
CA8888910 rs546659926 |
219 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs372077609 CA8888912 |
220 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA402028221 rs748188211 |
221 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1290487914 CA402028224 |
222 | K>E | No |
ClinGen gnomAD |
|
|
rs1388504084 CA402028232 |
223 | Y>H | No |
ClinGen gnomAD |
|
|
CA402028242 rs1465489508 |
224 | G>V | No |
ClinGen TOPMed |
|
|
rs777394300 CA8888915 |
227 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs746612146 CA8888916 |
233 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8888930 rs753568672 |
239 | K>E | No |
ClinGen ExAC |
|
|
rs1374344857 CA401882501 |
240 | V>L | No |
ClinGen gnomAD |
|
|
CA401882515 rs1225784950 |
241 | D>G | No |
ClinGen gnomAD |
|
|
rs754767040 CA8888931 |
246 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs758550291 CA401882609 |
249 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs758550291 CA295903039 |
249 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA401882606 rs1469364485 |
249 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA401882620 rs1231901344 |
250 | E>V | No |
ClinGen gnomAD |
|
|
CA401882636 rs1178614066 |
251 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs777989427 CA8888934 |
251 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401882654 rs1415370507 |
253 | T>A | No |
ClinGen gnomAD |
|
|
CA401882655 rs1415370507 |
253 | T>S | No |
ClinGen gnomAD |
|
|
rs368700058 CA8888935 |
254 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1165562491 CA401882675 |
254 | N>K | No |
ClinGen gnomAD |
|
|
CA8888936 rs368845774 |
258 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1568069104 CA401882729 |
259 | E>K | No |
ClinGen Ensembl |
|
|
CA401882750 rs1464077445 |
260 | P>L | No |
ClinGen gnomAD |
|
|
CA8888937 rs756912606 |
261 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1415788098 CA401882869 |
270 | Y>C | No |
ClinGen gnomAD |
|
|
rs770022126 COSM1471110 CA8888940 |
272 | R>* | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs770022126 CA401882889 |
272 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401882892 rs1598869758 |
272 | R>Q | No |
ClinGen Ensembl |
|
|
rs775970990 CA8888941 |
275 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 276 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373416081 CA8888942 |
277 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401882948 rs1271638332 |
277 | N>T | No |
ClinGen gnomAD |
|
|
CA401882992 rs375926697 |
281 | K>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs375926697 CA295903112 |
281 | K>Q | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 282 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8888943 rs769235242 |
283 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761890562 CA8888945 |
284 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs142799309 CA8888944 |
284 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401883043 rs1259466417 |
285 | P>L | No |
ClinGen gnomAD |
|
|
rs537083100 CA8888946 |
285 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1358619096 CA401883077 |
288 | E>Q | No |
ClinGen TOPMed |
|
|
CA401883146 rs1476856297 |
293 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1420298267 CA401883161 |
294 | T>I | No |
ClinGen gnomAD |
|
|
CA401883160 rs1420298267 |
294 | T>S | No |
ClinGen gnomAD |
|
|
rs1568069145 CA401883164 |
295 | T>A | No |
ClinGen Ensembl |
|
|
CA8888947 RCV000924577 rs528466267 |
295 | T>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs558924426 CA8888949 |
297 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401883294 COSM180379 rs1430612464 |
305 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1321348484 CA401883295 |
305 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1321348484 CA8888951 |
305 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1271347527 CA401883317 |
307 | L>F | No |
ClinGen gnomAD |
|
|
rs1351473594 CA401883327 |
308 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs764106578 CA8888954 |
308 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401883401 rs1346731444 |
313 | C>* | No |
ClinGen gnomAD |
|
|
CA8888956 rs756822703 |
315 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401883439 rs1198988746 |
316 | L>P | No |
ClinGen TOPMed |
|
|
rs146856822 CA8888961 |
322 | I>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8888960 rs143680866 |
322 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8888959 rs140099378 |
322 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401883541 rs1226820232 |
325 | M>V | No |
ClinGen TOPMed |
|
|
CA8888964 rs779376569 |
326 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 326 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401883558 rs1598869858 |
326 | D>N | No |
ClinGen Ensembl |
|
|
CA295903205 rs779376569 |
326 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401883598 rs1175810598 |
329 | I>T | No |
ClinGen gnomAD |
|
|
rs772121543 CA401883839 |
342 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs772121543 CA8888966 |
342 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA8888967 rs577133248 |
344 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA401883983 rs1369662473 |
349 | T>A | No |
ClinGen gnomAD |
|
|
rs1234544776 CA401883994 |
349 | T>I | No |
ClinGen gnomAD |
|
|
rs1305259774 CA401884017 |
351 | Q>E | No |
ClinGen gnomAD |
|
|
CA401884350 rs1323936112 |
352 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs747127902 CA8888988 |
354 | N>D | No |
ClinGen ExAC |
|
|
rs754419518 CA8888989 |
354 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA295904976 rs755389699 |
355 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA8888990 rs755389699 |
355 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs970821047 CA295904983 |
357 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 363 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401884600 rs1393737858 |
364 | V>A | No |
ClinGen gnomAD |
|
|
rs982045952 CA295904999 |
367 | L>V | No |
ClinGen TOPMed |
|
|
CA401884765 rs1353159348 |
372 | V>L | No |
ClinGen TOPMed |
|
|
rs1568069690 CA401884786 |
373 | L>P | No |
ClinGen Ensembl |
|
|
rs201125287 CA295905004 |
376 | V>A | No |
ClinGen 1000Genomes |
|
|
CA401884884 rs1598870600 |
377 | M>I | No |
ClinGen Ensembl |
|
|
rs772536201 CA8888996 |
377 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA401884864 rs1430069798 |
377 | M>V | No |
ClinGen TOPMed |
|
|
rs1598870605 CA401884893 |
378 | K>Q | No |
ClinGen Ensembl |
|
|
CA8888998 rs765869242 |
387 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM288297 rs1598870614 CA401885109 |
388 | M>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs989252022 CA295905039 |
389 | P>A | No |
ClinGen TOPMed |
|
|
CA401885158 rs374235427 |
390 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8889000 rs374235427 |
390 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747537272 CA401885282 |
396 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747537272 CA8889005 COSM1287529 |
396 | A>V | autonomic_ganglia [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA401885308 rs1370825389 |
397 | G>A | No |
ClinGen gnomAD |
|
|
CA401885297 rs781177570 |
397 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs781177570 CA8889007 |
397 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA401885315 rs1168066329 |
398 | I>V | No |
ClinGen gnomAD |
|
|
rs770170835 CA8889010 |
399 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 401 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747966913 CA8889012 |
403 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs200197423 CA295906069 |
412 | L>S | No |
ClinGen 1000Genomes |
|
|
CA401885858 COSM1710983 rs1368932788 |
414 | R>* | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs777454415 CA8889032 |
414 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1304525167 CA401885880 |
415 | D>A | No |
ClinGen gnomAD |
|
|
CA401885923 rs1237348970 |
417 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs770783042 CA8889034 |
418 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 421 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776152794 CA401885991 |
423 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759034779 CA401885995 |
424 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs759034779 CA8889036 |
424 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 432 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775094966 CA8889038 |
432 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA401886158 rs1351792982 |
437 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1395314774 CA401886223 |
442 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 450 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401887721 rs1351728725 |
453 | T>I | No |
ClinGen gnomAD |
|
|
CA8889051 rs755284343 |
454 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs954020920 CA401887753 |
455 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1412072913 CA401887812 |
459 | I>M | No |
ClinGen gnomAD |
|
|
CA401887821 rs1291918282 |
460 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA401887824 rs1291918282 |
460 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs542878133 CA295910022 |
461 | S>C | No |
ClinGen TOPMed |
|
|
CA295910014 rs542878133 |
461 | S>G | No |
ClinGen TOPMed |
|
|
rs777561304 CA8889053 |
461 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323055131 CA401887901 |
466 | D>A | No |
ClinGen gnomAD |
|
|
CA401887899 rs1289940958 |
466 | D>N | No |
ClinGen gnomAD |
|
|
CA8889054 rs746797343 |
469 | K>E | No |
ClinGen ExAC TOPMed |
|
|
rs1250417991 CA401887954 |
470 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs745848757 CA8889057 |
471 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs780988700 CA401887967 |
471 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8889056 rs780988700 |
471 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8889058 rs769273667 |
472 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA401888040 rs1182426816 |
475 | N>S | No |
ClinGen gnomAD |
|
|
rs775002893 CA8889059 |
479 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs762551080 CA8889060 |
484 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8889061 rs372277773 |
485 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1311405593 CA401888190 |
485 | Q>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 486 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781091746 CA8889080 |
493 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1287752693 CA401888625 |
498 | A>T | No |
ClinGen gnomAD |
|
|
rs1598873558 CA401888631 |
499 | M>L | No |
ClinGen Ensembl |
|
|
rs779470358 CA8889083 |
502 | F>C | No |
ClinGen ExAC |
|
|
CA8889084 rs748810192 |
504 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs768270450 CA8889085 |
504 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1482376876 CA401888673 |
505 | R>Q | No |
ClinGen TOPMed |
|
|
CA8889086 rs773866824 |
505 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1023764049 CA295912443 |
507 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs995182157 CA295912471 |
511 | K>E | No |
ClinGen TOPMed |
|
|
rs867322343 CA401888734 |
514 | I>L | No |
ClinGen TOPMed |
|
|
CA295912492 rs867322343 |
514 | I>V | No |
ClinGen TOPMed |
|
|
rs1445245154 CA401888751 |
516 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA8889088 rs772299698 |
517 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA401888759 rs1248704887 |
518 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 518 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149216756 CA8889089 |
519 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767010644 CA8889091 |
521 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA8889092 rs777338950 |
522 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs773655777 CA8889108 |
527 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA295912760 rs911945497 |
527 | R>H | No |
ClinGen TOPMed |
|
|
CA401888958 rs1389441948 |
529 | Q>H | No |
ClinGen gnomAD |
|
|
rs1325190793 CA401888983 |
531 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1233704649 CA401888998 |
532 | R>* | No |
ClinGen TOPMed |
|
|
CA8889110 rs771493471 |
532 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1305964767 CA401889112 |
538 | Y>* | No |
ClinGen TOPMed |
|
|
CA8889112 rs760138997 |
539 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA295912784 rs866817365 |
540 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs763017977 CA8889116 |
541 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1384362354 CA401889146 |
541 | E>K | No |
ClinGen TOPMed |
|
|
CA401889171 rs1271152384 |
542 | S>N | No |
ClinGen gnomAD |
|
|
CA401889182 rs1172355625 |
543 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 544 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8889118 rs368804758 |
544 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760614753 CA295912810 |
553 | Q>H | No |
ClinGen gnomAD |
|
|
rs1187939238 CA401889361 |
554 | I>T | No |
ClinGen gnomAD |
|
|
rs1474496719 CA401889355 |
554 | I>V | No |
ClinGen gnomAD |
|
|
rs766197922 CA8889120 |
560 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs753692835 CA8889121 |
564 | E>K | Variant assessed as Somatic; 4.634e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1346089334 CA401890224 |
568 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 571 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401890258 rs1257059622 |
572 | H>R | No |
ClinGen gnomAD |
|
|
rs753695857 CA8889142 |
573 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401890282 rs1231252289 |
575 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs144964228 CA8889143 |
576 | A>V | No |
ClinGen 1000Genomes ExAC |
|
|
rs752646969 CA8889145 |
577 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs765210331 CA8889144 |
577 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374024426 CA8889146 |
581 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401890327 rs1378035062 |
581 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA401890318 rs374024426 |
581 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1156806829 CA401890332 |
582 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1156806829 CA401890334 |
582 | E>Q | No |
ClinGen gnomAD |
|
|
CA8889148 rs751209223 |
583 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA401890383 rs1322746831 |
585 | I>L | No |
ClinGen gnomAD |
|
|
rs367939064 CA401890397 |
585 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1322746831 CA401890386 |
585 | I>V | No |
ClinGen gnomAD |
|
|
CA401890436 rs1386462500 |
588 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA8889151 rs746254893 |
588 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs780605304 CA8889153 |
589 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8889155 rs768695459 |
592 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749833901 CA8889154 |
592 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1249461065 CA401890512 |
593 | L>P | No |
ClinGen gnomAD |
|
|
rs761980244 CA8889157 |
595 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401890545 rs772297398 |
595 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1190325047 CA401890537 |
595 | Q>P | No |
ClinGen gnomAD |
|
|
rs1598874351 CA401890560 |
596 | M>R | No |
ClinGen Ensembl |
|
|
CA401890577 rs1434688599 |
597 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA401890581 rs1434688599 |
597 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA295914707 rs376577692 |
598 | R>* | No |
ClinGen ESP gnomAD |
|
|
CA8889159 rs773367882 |
598 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8889160 rs773367882 |
598 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401890600 rs1449653918 |
599 | A>T | No |
ClinGen gnomAD |
|
|
rs1457796369 CA401890607 |
599 | A>V | No |
ClinGen gnomAD |
|
|
CA401890635 rs1161422048 |
601 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1216693010 CA401890645 |
601 | A>V | No |
ClinGen TOPMed |
|
|
CA401890656 rs1233734978 |
602 | E>G | No |
ClinGen TOPMed |
|
|
rs369532344 CA8889162 |
602 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401890686 rs1370101476 |
604 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs763007442 CA8889163 |
605 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8889164 rs372929952 |
605 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401890742 rs1230818746 |
607 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1319464221 CA401890756 |
609 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8889166 rs756910572 |
610 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA401890768 rs1265672931 |
610 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs767184648 CA8889167 |
611 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767184648 CA401890770 |
611 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401890769 rs767184648 |
611 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401890774 rs1202797075 |
612 | E>K | No |
ClinGen gnomAD |
|
|
CA401890785 rs1372189310 |
613 | W>* | No |
ClinGen TOPMed |
|
|
COSM1389956 CA8889168 rs750108400 |
614 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs756469650 CA8889169 |
614 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8889170 rs756469650 |
614 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755507371 CA8889172 |
615 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs755507371 CA401890795 |
615 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA8889173 rs35867116 VAR_049147 |
617 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA401890842 rs1598874411 |
618 | V>G | No |
ClinGen Ensembl |
|
|
CA8889175 rs772113798 |
618 | V>I | Variant assessed as Somatic; 4.822e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8889177 rs137976679 |
620 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8889178 rs137976679 |
620 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1348623941 CA401890873 |
620 | P>S | No |
ClinGen TOPMed |
|
|
rs141739854 CA295914854 |
624 | G>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA8889182 rs200994399 |
625 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401890980 rs1202647055 |
627 | E>K | No |
ClinGen gnomAD |
|
|
rs761401980 CA8889183 |
628 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1434969596 CA401891004 |
629 | K>* | No |
ClinGen TOPMed |
|
|
rs1207128432 CA401891019 |
630 | A>T | No |
ClinGen gnomAD |
|
|
rs750067012 CA8889185 |
631 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA401891047 rs1182553371 |
632 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 633 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401891084 rs1447868828 |
633 | E>D | No |
ClinGen gnomAD |
|
|
CA401891075 rs1416105372 |
633 | E>K | No |
ClinGen gnomAD |
|
|
rs150549954 CA8889186 |
634 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs994935898 CA295914932 |
635 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 635 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766722779 CA8889187 |
636 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA401891138 rs1311537270 |
637 | A>T | No |
ClinGen gnomAD |
|
|
CA401891149 rs1359122396 |
637 | A>V | No |
ClinGen gnomAD |
|
|
CA401891171 rs1195034782 |
639 | K>T | No |
ClinGen TOPMed |
|
|
rs755417867 CA8889189 |
640 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8889190 rs368834573 |
641 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8889192 rs373024496 |
644 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs530173610 CA8889193 COSM1740444 |
645 | S>L | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs771063506 CA8889195 |
646 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1210792656 CA401891306 |
647 | S>T | No |
ClinGen gnomAD |
|
|
rs1239275917 CA401891322 |
648 | R>S | No |
ClinGen gnomAD |
|
|
rs749079878 CA8889197 |
650 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8889198 rs548196845 |
653 | T>A | No |
ClinGen 1000Genomes ExAC |
|
|
rs201564046 CA401891356 |
653 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8889199 rs201564046 |
653 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
No associated diseases with Q15311
1 regional properties for Q15311
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Rho GTPase-activating protein domain | 192 - 380 | IPR000198 |
Functions
| Description | ||
|---|---|---|
| EC Number | 7.6.2.2 | Linked to the hydrolysis of a nucleoside triphosphate |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| 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. |
| 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. |
| spindle pole | Either of the ends of a spindle, where spindle microtubules are organized; usually contains a microtubule organizing center and accessory molecules, spindle microtubules and astral microtubules. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| ABC-type glutathione S-conjugate transporter activity | Catalysis of the reaction: ATP + H2O + glutathione S-conjugate(in) -> ADP + phosphate + glutathione S-conjugate(out). |
| ABC-type xenobiotic transporter activity | Catalysis of the reaction: ATP + H2O + xenobiotic(in) = ADP + phosphate + xenobiotic(out). |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATPase-coupled transmembrane transporter activity | Primary active transporter of a solute across a membrane, via the reaction: ATP + H2O = ADP + phosphate, to directly drive the transport of a substance across a membrane. The transport protein may be transiently phosphorylated (P-type transporters), or not (ABC-type transporters and other families of transporters). Primary active transport occurs up the solute's concentration gradient and is driven by a primary energy source. |
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
| small GTPase binding | Binding to a small monomeric GTPase. |
| transmembrane transporter activity | Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. |
| xenobiotic transmembrane transporter activity | Enables the directed movement of a xenobiotic from one side of a membrane to the other. A xenobiotic is a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| chemotaxis | The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). |
| doxorubicin transport | The directed movement of a doxorubicin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| endocytosis | A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle. |
| positive regulation of GTPase activity | Any process that activates or increases the activity of a GTPase. |
| positive regulation of mitochondrial fission | Any process that increases the rate, frequency or extent of mitochondrial fission. Mitochondrial fission is the division of a mitochondrion within a cell to form two or more separate mitochondrial compartments. |
| positive regulation of protein phosphorylation | Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein. |
| regulation of Cdc42 protein signal transduction | Any process that modulates the frequency, rate or extent of Cdc42 protein signal transduction. |
| regulation of GTPase activity | Any process that modulates the rate of GTP hydrolysis by a GTPase. |
| regulation of small GTPase mediated signal transduction | Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction. |
| small GTPase mediated signal transduction | The series of molecular signals in which a small monomeric GTPase relays a signal. |
| transmembrane transport | The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other. |
| xenobiotic detoxification by transmembrane export across the plasma membrane | A process that reduces or removes the toxicity of a xenobiotic by exporting it outside the cell. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTECFLPPTS | SPSEHRRVEH | GSGLTRTPSS | EEISPTKFPG | LYRTGEPSPP | HDILHEPPDV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VSDDEKDHGK | KKGKFKKKEK | RTEGYAAFQE | DSSGDEAESP | SKMKRSKGIH | VFKKPSFSKK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KEKDFKIKEK | PKEEKHKEEK | HKEEKHKEKK | SKDLTAADVV | KQWKEKKKKK | KPIQEPEVPQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IDVPNLKPIF | GIPLADAVER | TMMYDGIRLP | AVFRECIDYV | EKYGMKCEGI | YRVSGIKSKV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DELKAAYDRE | ESTNLEDYEP | NTVASLLKQY | LRDLPENLLT | KELMPRFEEA | CGRTTETEKV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QEFQRLLKEL | PECNYLLISW | LIVHMDHVIA | KELETKMNIQ | NISIVLSPTV | QISNRVLYVF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FTHVQELFGN | VVLKQVMKPL | RWSNMATMPT | LPETQAGIKE | EIRRQEFLLN | CLHRDLQGGI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KDLSKEERLW | EVQRILTALK | RKLREAKRQE | CETKIAQEIA | SLSKEDVSKE | EMNENEEVIN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ILLAQENEIL | TEQEELLAME | QFLRRQIASE | KEEIERLRAE | IAEIQSRQQH | GRSETEEYSS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ESESESEDEE | ELQIILEDLQ | RQNEELEIKN | NHLNQAIHEE | REAIIELRVQ | LRLLQMQRAK |
| 610 | 620 | 630 | 640 | 650 | |
| AEQQAQEDEE | PEWRGGAVQP | PRDGVLEPKA | AKEQPKAGKE | PAKPSPSRDR | KETSI |