Q8WTX7
Gene name |
CASTOR1 |
Protein name |
Cytosolic arginine sensor for mTORC1 subunit 1 |
Names |
Cellular arginine sensor for mTORC1 protein 1, GATS-like protein 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:652968 |
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
256 variants for Q8WTX7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA323200936 rs950853836 |
2 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA411177740 rs1360258670 |
2 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA411177714 rs1474258437 |
6 | L>P | No |
ClinGen gnomAD |
|
|
rs1188529312 CA411177710 |
7 | E>Q | No |
ClinGen gnomAD |
|
|
rs766685244 CA10179088 |
9 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA323200926 rs976479578 |
9 | R>W | No |
ClinGen TOPMed |
|
|
CA411177692 rs1281818781 |
10 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1230990140 CA411177662 |
15 | V>L | No |
ClinGen gnomAD |
|
|
CA411177645 rs1295701205 |
17 | R>H | No |
ClinGen gnomAD |
|
|
rs1312451801 CA411177635 |
19 | G>D | No |
ClinGen TOPMed |
|
|
CA411177638 rs1482107841 |
19 | G>S | No |
ClinGen Ensembl |
|
|
rs1312451801 CA411177633 |
19 | G>V | No |
ClinGen TOPMed |
|
|
rs748754620 CA10179084 |
20 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA10179083 rs774552859 |
22 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1569156943 CA411177602 |
24 | T>I | No |
ClinGen Ensembl |
|
|
rs1569156943 CA411177600 |
24 | T>N | No |
ClinGen Ensembl |
|
|
rs1162884607 CA411177605 |
24 | T>P | No |
ClinGen gnomAD |
|
|
CA10179080 rs749482647 |
25 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA10179079 rs780446646 |
25 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs778325860 CA323200810 |
31 | L>F | No |
ClinGen gnomAD |
|
|
CA411177549 rs1211407051 |
32 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs758257661 CA10179075 |
33 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs200243403 CA10179074 |
35 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA323200805 rs1006825804 |
35 | R>H | No |
ClinGen TOPMed |
|
|
CA411177531 rs1339226315 |
36 | R>C | No |
ClinGen gnomAD |
|
|
rs1268802966 CA411177530 |
36 | R>H | No |
ClinGen gnomAD |
|
|
rs754511179 CA10179073 |
38 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA10179037 rs771802454 |
40 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10179036 rs369487022 |
42 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1157938319 CA411177457 |
45 | T>K | No |
ClinGen gnomAD |
|
|
CA411177446 rs1390763350 |
47 | T>A | No |
ClinGen gnomAD |
|
|
CA411177425 rs1409535737 |
50 | D>H | No |
ClinGen gnomAD |
|
|
CA411177426 rs1409535737 |
50 | D>N | No |
ClinGen gnomAD |
|
|
rs1177218483 CA411177416 |
51 | Y>D | No |
ClinGen gnomAD |
|
|
rs201324550 CA10179034 |
52 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411177406 rs201324550 |
52 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749279564 CA10179033 |
55 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA411177384 rs1186390910 |
56 | D>N | No |
ClinGen gnomAD |
|
|
rs1013339327 CA323200047 |
58 | E>K | No |
ClinGen TOPMed |
|
|
rs779407828 CA10179032 |
59 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1315287825 CA411177352 |
60 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 61 | K>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1249848238 CA411177042 |
65 | P>L | No |
ClinGen gnomAD |
|
|
rs1275107996 CA411176938 |
74 | A>S | No |
ClinGen gnomAD |
|
|
rs753947047 CA10179002 |
75 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA10179000 rs760863995 |
78 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1310256562 CA411176876 |
80 | N>I | No |
ClinGen TOPMed |
|
|
rs370157427 CA10178996 |
81 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370157427 CA10178997 |
81 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769766060 CA10178995 |
82 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1309168422 CA411176816 |
84 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1470134696 CA411176768 |
86 | G>D | No |
ClinGen gnomAD |
|
|
CA411176778 rs770608537 |
86 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770608537 CA10178992 |
86 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs189381704 COSM1033249 CA10178991 |
87 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs569590873 CA10178989 |
88 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411176715 rs748546063 |
89 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10178988 rs748546063 |
89 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA323198505 rs1049003084 |
89 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA10178987 rs779207814 |
90 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10178986 rs755496950 |
91 | A>P | No |
ClinGen ExAC |
|
|
rs557296879 CA10178985 |
92 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA323198470 rs547890105 |
94 | V>G | No |
ClinGen 1000Genomes |
|
|
rs780075887 CA10178984 |
94 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA411176613 rs1410320520 |
95 | T>A | No |
ClinGen TOPMed |
|
|
rs2240421 CA323198463 |
97 | I>S | No |
ClinGen Ensembl |
|
|
CA10178982 rs750588499 |
98 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs750588499 CA411176549 |
98 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs767731570 CA10178981 |
98 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs201164151 CA10178980 |
99 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA323198422 rs368955430 |
99 | R>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA323198419 rs368955430 |
99 | R>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1316953731 CA411176499 |
100 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1353991023 CA411176478 |
103 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs759489489 CA10178977 COSM1033248 |
103 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA411176399 rs1192175247 |
107 | E>G | No |
ClinGen TOPMed |
|
|
CA10178973 rs772929352 |
107 | E>K | No |
ClinGen ExAC |
|
|
CA411176355 rs749410812 |
109 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10178972 rs749410812 |
109 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747812777 CA10178971 |
110 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1431724078 CA411176227 |
116 | S>C | No |
ClinGen TOPMed |
|
|
rs768939653 CA10178969 |
120 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA323198339 rs1020524089 |
121 | D>Y | No |
ClinGen TOPMed |
|
|
rs1259280906 CA411176109 |
123 | I>V | No |
ClinGen gnomAD |
|
|
rs200867191 CA411176026 |
125 | V>L | No |
ClinGen gnomAD |
|
|
rs200867191 CA323198149 |
125 | V>M | No |
ClinGen gnomAD |
|
|
rs771531140 CA10178955 |
126 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1463830300 CA411176014 |
126 | R>W | No |
ClinGen TOPMed |
|
|
rs1188106939 CA411175994 |
127 | E>G | No |
ClinGen TOPMed |
|
|
rs1569156333 CA411176005 |
127 | E>K | No |
ClinGen Ensembl |
|
|
CA411175981 rs1174789024 |
128 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA411175909 rs773905426 |
132 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10178953 rs773905426 |
132 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411175873 rs1438851474 |
134 | I>T | No |
ClinGen gnomAD |
|
|
CA10178952 rs749659130 |
136 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749659130 CA10178951 |
136 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775900727 CA10178950 |
139 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1020417456 CA323198107 |
140 | E>K | No |
ClinGen TOPMed |
|
|
CA10178949 rs770273699 |
141 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1394074674 CA411175775 |
141 | F>L | No |
ClinGen gnomAD |
|
|
rs543656811 CA10178948 |
141 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757314887 CA10178946 |
142 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411175739 rs1191330397 |
143 | I>V | No |
ClinGen gnomAD |
|
|
CA10178945 rs777867470 |
145 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA10178944 rs777867470 |
145 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs754751394 CA10178943 |
145 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754751394 CA411175696 |
145 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1437696372 CA411175691 |
146 | E>K | No |
ClinGen gnomAD |
|
|
CA411175640 rs1207815922 |
149 | G>R | No |
ClinGen gnomAD |
|
|
CA411175613 rs201329349 |
150 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411175591 rs1279940779 |
152 | V>L | No |
ClinGen gnomAD |
|
|
rs1442753585 CA411175570 |
153 | P>L | No |
ClinGen gnomAD |
|
|
CA10178939 rs750425901 |
154 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA411175567 rs750425901 |
154 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA10178938 rs767011073 |
155 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411175541 rs767011073 |
155 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA323198058 rs931347611 |
156 | R>K | No |
ClinGen Ensembl |
|
|
rs931347611 CA411175527 |
156 | R>T | No |
ClinGen Ensembl |
|
|
CA411175437 rs1441408019 |
161 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA411175427 rs1309773541 |
162 | G>D | No |
ClinGen gnomAD |
|
|
rs1333967389 CA411175430 |
162 | G>S | No |
ClinGen gnomAD |
|
|
rs373119268 CA10178936 |
164 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1374604665 CA411175401 |
164 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs373119268 CA411175407 |
164 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762652275 CA10178935 |
165 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200418035 CA10178933 |
165 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762652275 CA10178934 |
165 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770187963 CA10178932 |
166 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA411175374 rs1473170002 |
167 | Q>H | No |
ClinGen TOPMed |
|
|
rs1040070755 CA323198013 |
168 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10178893 rs761053103 |
171 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453892920 CA411175277 |
173 | T>A | No |
ClinGen gnomAD |
|
|
CA411175272 rs773797881 |
173 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10178892 rs773797881 |
173 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748179483 CA323197510 |
177 | I>F | No |
ClinGen Ensembl |
|
|
rs761997957 CA10178890 |
179 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10178888 rs768987098 |
181 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs373540448 CA10178887 |
183 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10178886 rs780821080 |
183 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1233050254 CA411175158 |
184 | F>C | No |
ClinGen gnomAD |
|
|
CA10178885 rs770794054 |
184 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10178884 rs746875088 |
187 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs777705383 CA10178883 |
187 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10178880 rs778448281 |
189 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA10178881 rs778448281 |
189 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA10178879 rs143253536 |
190 | D>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10178878 rs753564212 |
191 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1295692676 CA411175072 |
193 | T>A | No |
ClinGen TOPMed |
|
|
CA10178877 rs201464855 |
193 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201464855 CA411175067 |
193 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750902277 CA10178875 |
195 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs377132305 CA10178873 |
196 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764277009 CA10178870 |
203 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA10178868 rs775807200 |
208 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749592222 CA411173890 |
210 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs758898589 CA411173869 |
211 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10178833 rs758898589 |
211 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1601662064 CA411173881 |
211 | T>P | No |
ClinGen Ensembl |
|
|
rs758898589 CA10178832 |
211 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10178831 rs765279131 |
212 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765279131 CA10178830 |
212 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411173801 rs1341863741 |
216 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1210884083 CA411173804 |
216 | A>S | No |
ClinGen gnomAD |
|
|
CA411173800 rs1341863741 |
216 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA411173790 rs1437256728 |
217 | S>C | No |
ClinGen gnomAD |
|
|
CA411173780 rs1442631054 |
218 | S>T | No |
ClinGen TOPMed |
|
|
CA10178829 rs759719627 |
222 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA411173724 rs1601662024 |
223 | S>T | No |
ClinGen Ensembl |
|
|
rs367889379 CA323196860 |
224 | S>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA10178827 rs767247380 |
225 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA10178825 rs374308991 |
226 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10178826 rs374308991 |
226 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411173652 rs1423795354 |
229 | A>V | No |
ClinGen gnomAD |
|
|
rs962847535 CA323196772 |
234 | E>K | No |
ClinGen gnomAD |
|
|
CA411173591 rs1207279332 |
235 | G>D | No |
ClinGen TOPMed |
|
|
rs781008682 CA10178818 |
235 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1380618335 CA411173561 |
238 | S>T | No |
ClinGen gnomAD |
|
|
CA10178817 rs771356842 |
241 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs771356842 CA411173533 |
241 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA411173512 rs1488366965 |
242 | D>E | No |
ClinGen TOPMed |
|
|
rs1194487545 CA411173484 |
245 | T>I | No |
ClinGen TOPMed |
|
|
CA411173482 rs1200177907 |
246 | Q>K | No |
ClinGen gnomAD |
|
|
rs747378262 CA10178816 |
246 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411173458 rs1417314313 |
248 | K>E | No |
ClinGen gnomAD |
|
|
CA323196506 rs547927578 |
248 | K>N | No |
ClinGen gnomAD |
|
|
rs1188058299 CA411173454 |
248 | K>R | No |
ClinGen TOPMed |
|
|
CA411173399 rs1161986616 |
250 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1473131737 CA411173371 |
252 | D>E | No |
ClinGen gnomAD |
|
|
rs769966102 CA323196505 |
253 | L>F | No |
ClinGen Ensembl |
|
|
CA10178794 rs748636183 |
257 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA10178793 rs754982494 |
259 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10178792 rs754982494 |
259 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA323196443 rs1000404870 |
260 | G>R | No |
ClinGen Ensembl |
|
|
rs1209213155 CA411173258 |
264 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1320890498 CA411173246 |
265 | M>L | No |
ClinGen gnomAD |
|
|
CA411173232 rs780165118 |
266 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10178790 rs780165118 |
266 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756306909 CA10178789 COSM1415696 |
267 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1296415462 CA411173222 |
267 | R>H | No |
ClinGen gnomAD |
|
|
rs1432335189 CA411173215 |
268 | I>V | No |
ClinGen gnomAD |
|
|
rs572104208 CA323196363 |
269 | G>D | No |
ClinGen 1000Genomes |
|
|
rs750642300 CA10178788 |
269 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1454725830 CA411173198 |
270 | G>R | No |
ClinGen gnomAD |
|
|
CA411173184 rs1241611854 |
271 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1021389156 CA323196354 |
272 | P>L | No |
ClinGen TOPMed |
|
|
rs1301568715 CA411173174 |
272 | P>S | No |
ClinGen TOPMed |
|
|
CA323196196 rs757768327 |
276 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA323196322 rs370649027 |
276 | D>N | No |
ClinGen ESP |
|
|
rs765176150 CA10178766 |
279 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA411173020 rs1299868352 |
283 | Q>E | No |
ClinGen gnomAD |
|
|
CA10178765 rs754938761 |
286 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA411172980 rs1221366822 |
286 | G>S | No |
ClinGen gnomAD |
|
|
rs753853345 CA10178764 |
287 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA411172965 rs1408359730 |
288 | L>M | No |
ClinGen gnomAD |
|
|
CA411172952 rs1601661600 |
289 | A>P | No |
ClinGen Ensembl |
|
|
CA10178760 rs767070750 |
291 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411172873 rs1178178888 |
294 | S>F | No |
ClinGen gnomAD |
|
|
CA10178758 rs774675821 |
298 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA10178757 rs769048839 |
299 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA411172802 rs749746879 |
299 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs775990870 CA10178755 |
300 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10178754 rs769847466 |
304 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1257198960 CA411172754 |
304 | D>N | No |
ClinGen gnomAD |
|
|
CA323196105 rs954554338 |
305 | H>L | No |
ClinGen TOPMed |
|
|
rs745933272 CA10178753 |
305 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA411172735 rs1324939715 |
305 | H>Y | No |
ClinGen gnomAD |
|
|
CA10178751 rs757402615 |
306 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757402615 CA10178750 |
306 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1211488559 CA411172721 |
306 | A>T | No |
ClinGen TOPMed |
|
|
rs778807317 CA10178748 |
307 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs867318734 CA323196033 |
307 | L>R | No |
ClinGen Ensembl |
|
|
rs201496296 CA10178746 |
307 | L>R | No |
ClinGen TOPMed |
|
|
rs1222969937 CA411172633 |
310 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA323195796 rs747175965 |
311 | D>E | No |
ClinGen ExAC TOPMed |
|
|
rs771078179 CA10178720 |
311 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778151331 CA10178717 |
312 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA411172593 rs768496780 |
313 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411172589 rs1209687271 |
314 | G>D | No |
ClinGen gnomAD |
|
|
rs1263006101 CA411172592 |
314 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1294233274 CA411172583 |
315 | S>N | No |
ClinGen gnomAD |
|
|
rs574213079 CA10178714 |
316 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411172573 rs1419069530 |
317 | I>V | No |
ClinGen TOPMed |
|
|
CA10178713 rs201767342 |
318 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10178712 rs201767342 |
318 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs555778486 CA10178710 |
322 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780527236 CA10178711 |
322 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1303416764 CA411172499 |
323 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs891279022 CA323195743 |
323 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA411172477 rs1387912768 |
325 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs751146629 CA10178709 |
326 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1234685598 CA411172461 |
326 | G>S | No |
ClinGen TOPMed |
|
|
CA323195716 rs1051961531 |
327 | L>P | No |
ClinGen TOPMed |
|
|
rs763733871 CA323195713 |
328 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763733871 CA10178708 |
328 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1263248292 CA411172418 |
330 | S>R | No |
ClinGen TOPMed |
|
|
rs867132814 CA323195694 |
330 | S>W | No |
ClinGen Ensembl |
No associated diseases with Q8WTX7
3 regional properties for Q8WTX7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | CASTOR, ACT domain | 72 - 138 | IPR027795-1 |
| domain | CASTOR, ACT domain | 259 - 321 | IPR027795-2 |
| domain | CASTOR1, N-terminal | 9 - 69 | IPR040778 |
1 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. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| arginine binding | Binding to 2-amino-5-(carbamimidamido)pentanoic acid. |
| identical protein binding | Binding to an identical protein or proteins. |
| protein sequestering activity | Binding to a protein to prevent it from interacting with other partners or to inhibit its localization to the area of the cell or complex where it is active. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to L-arginine | 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 L-arginine stimulus. |
| negative regulation of TORC1 signaling | Any process that stops, prevents or reduces the frequency, rate or extent of TORC1 signaling. |
| regulation of intracellular signal transduction | Any process that modulates the frequency, rate or extent of intracellular signal transduction. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q0V8A3 | CASTOR1 | Cytosolic arginine sensor for mTORC1 subunit 1 | Bos taurus (Bovine) | PR |
| Q9CWQ8 | Castor1 | Cytosolic arginine sensor for mTORC1 subunit 1 | Mus musculus (Mouse) | PR |
| Q5BJZ0 | Castor1 | Cytosolic arginine sensor for mTORC1 subunit 1 | Rattus norvegicus (Rat) | PR |
| Q63ZZ8 | castor2 | Cytosolic arginine sensor for mTORC1 subunit 2 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MELHILEHRV | RVLSVARPGL | WLYTHPLIKL | LFLPRRSRCK | FFSLTETPED | YTLMVDEEGF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KELPPSEFLQ | VAEATWLVLN | VSSHSGAAVQ | AAGVTKIARS | VIAPLAEHHV | SVLMLSTYQT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DFILVREQDL | SVVIHTLAQE | FDIYREVGGE | PVPVTRDDSS | NGFPRTQHGP | SPTVHPIQSP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QNRFCVLTLD | PETLPAIATT | LIDVLFYSHS | TPKEAASSSP | EPSSITFFAF | SLIEGYISIV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MDAETQKKFP | SDLLLTSSSG | ELWRMVRIGG | QPLGFDECGI | VAQIAGPLAA | ADISAYYIST |
| 310 | 320 | ||||
| FNFDHALVPE | DGIGSVIEVL | QRRQEGLAS |