Q9NRF8
Gene name |
CTPS2 |
Protein name |
CTP synthase 2 |
Names |
CTP synthetase 2, UTP--ammonia ligase 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:56474 |
EC number |
6.3.4.2: Other carbon--nitrogen ligases |
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
9 structures for Q9NRF8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2V4U | X-ray | 230 A | A | 297-562 | PDB |
| 2VKT | X-ray | 250 A | A | 297-562 | PDB |
| 3IHL | X-ray | 280 A | A/B | 1-275 | PDB |
| 6PK4 | EM | 350 A | A/B/C/D | 1-586 | PDB |
| 6PK7 | EM | 310 A | A/D/E/F | 1-586 | PDB |
| 7MH1 | EM | 280 A | H/J/K/L | 1-586 | PDB |
| 7MIH | EM | 280 A | A/B/C/E | 1-586 | PDB |
| 7MII | EM | 270 A | A/B/C/E | 1-586 | PDB |
| AF-Q9NRF8-F1 | Predicted | AlphaFoldDB |
214 variants for Q9NRF8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
COSM181857 CA10357180 rs200869248 |
7 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1417055959 CA412483131 |
7 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 10 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1412654809 CA412482928 |
23 | I>T | No |
ClinGen gnomAD |
|
|
CA412482931 rs1569238969 |
23 | I>V | No |
ClinGen Ensembl |
|
|
rs1483058889 CA412482905 |
25 | T>K | No |
ClinGen gnomAD |
|
|
rs1483058889 CA412482907 |
25 | T>M | No |
ClinGen gnomAD |
|
|
rs1261504476 CA412482848 |
30 | C>R | No |
ClinGen gnomAD |
|
|
rs1008397802 CA327223208 |
32 | L>V | No |
ClinGen TOPMed |
|
|
rs1306984433 CA412482813 |
33 | R>Q | No |
ClinGen gnomAD |
|
|
CA412482788 rs1247361918 |
36 | A>T | No |
ClinGen gnomAD |
|
|
rs964427569 CA327223207 |
37 | I>V | No |
ClinGen gnomAD |
|
|
rs748681813 CA327223206 |
39 | I>V | No |
ClinGen Ensembl |
|
|
rs751724576 CA10357175 |
45 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 48 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10357174 rs765136758 |
48 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA327223205 rs955087690 |
56 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs781314454 CA10357159 |
60 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10357158 rs754997637 |
61 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 63 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 66 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA327222922 rs768255297 |
66 | E>Q | No |
ClinGen Ensembl |
|
|
CA412482315 rs1172535458 |
70 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA412482325 rs1373730569 |
70 | D>N | No |
ClinGen gnomAD |
|
|
rs758598445 CA10357155 |
76 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs1200653545 CA412482194 |
79 | D>G | No |
ClinGen gnomAD |
|
|
rs866455192 CA327222921 |
84 | K>E | No |
ClinGen Ensembl |
|
|
CA412482123 rs1267457654 |
84 | K>T | No |
ClinGen gnomAD |
|
|
CA412482091 rs1602286477 |
87 | N>D | No |
ClinGen Ensembl |
|
|
rs753050665 CA10357154 |
89 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs139580060 CA10357153 |
90 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412481996 rs752670958 |
99 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA10357151 rs752670958 |
99 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs767434269 CA10357150 |
103 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10357149 rs146237387 |
103 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61754548 CA327222919 |
110 | T>I | No |
ClinGen TOPMed |
|
|
CA412481842 rs1460249681 |
110 | T>S | No |
ClinGen TOPMed |
|
|
rs773609946 CA10357145 |
113 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1379491150 CA412481721 |
115 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA412481725 rs1304779733 |
115 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 117 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412481659 rs1444729762 |
120 | A>S | No |
ClinGen gnomAD |
|
|
rs1444729762 CA412481662 |
120 | A>T | No |
ClinGen gnomAD |
|
|
CA412481624 rs1337401193 |
123 | E>Q | No |
ClinGen gnomAD |
|
|
CA10357130 rs759473259 |
127 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 131 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA327222873 rs946825746 |
132 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA327222872 rs867175690 |
133 | V>M | No |
ClinGen Ensembl |
|
|
rs1172405945 CA412481512 |
135 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 136 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10357126 rs772839943 |
144 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA327222502 rs867515916 |
153 | D>N | No |
ClinGen Ensembl |
|
|
CA412480589 rs1252252843 |
156 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
COSM122415 CA327222501 rs867125613 |
158 | P>L | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1022482856 CA327222500 |
160 | V>A | No |
ClinGen TOPMed |
|
|
rs1414875543 CA412480535 |
160 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 170 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10357104 rs764514112 |
170 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1293813244 CA412480305 |
171 | K>R | No |
ClinGen gnomAD |
|
|
rs776075227 CA10357102 |
181 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs745973464 CA10357100 |
183 | V>I | No |
ClinGen ExAC |
|
|
rs193055681 CA327222494 |
187 | S>N | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1569233967 CA412479882 |
188 | A>D | No |
ClinGen Ensembl |
|
|
CA327222493 rs200862252 |
190 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 191 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1289283772 CA412479616 |
198 | Q>R | No |
ClinGen gnomAD |
|
|
rs753513954 CA10357086 |
199 | N>S | No |
ClinGen ExAC |
|
|
CA10357083 rs141143406 |
201 | V>A | No |
ClinGen ESP ExAC TOPMed |
|
|
CA10357084 rs761102007 |
201 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1291504955 CA412479550 |
202 | R>C | No |
ClinGen gnomAD |
|
|
CA412479538 rs1276539401 |
203 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 205 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 208 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 213 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1602273252 CA412479134 |
214 | I>T | No |
ClinGen Ensembl |
|
|
CA10357072 rs745800022 |
215 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 215 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10357071 rs778450479 |
217 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1205396001 CA412479025 |
220 | T>A | No |
ClinGen gnomAD |
|
|
rs371894543 CA10357070 |
220 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1057122282 CA327222380 |
221 | P>H | No |
ClinGen Ensembl |
|
|
CA412478945 rs1198257633 |
225 | A>S | No |
ClinGen gnomAD |
|
|
rs1217815741 CA412478752 |
234 | C>S | No |
ClinGen gnomAD |
|
|
rs1367570893 CA412478740 |
234 | C>S | No |
ClinGen gnomAD |
|
|
CA412478718 rs1455592938 |
236 | V>M | No |
ClinGen TOPMed |
|
|
CA10357065 rs767967478 |
237 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141929744 CA10357066 |
237 | N>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA412478693 rs1383982088 |
238 | P>S | No |
ClinGen TOPMed |
|
|
CA10357049 rs761532183 |
245 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 249 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412477693 rs1384594859 |
250 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 251 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10357047 rs755410764 |
253 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758782939 CA10357044 |
262 | I>V | No |
ClinGen ExAC |
|
|
CA327222226 rs974714943 |
263 | V>E | No |
ClinGen Ensembl |
|
|
rs572560825 CA10357043 |
264 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10357042 rs765226253 |
268 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA10357041 rs148185373 |
270 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10357039 rs764233202 |
275 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759353943 CA10357038 COSM1190508 |
284 | K>N | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
TCGA novel rs1602269556 CA412476965 |
286 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
| TCGA novel | 289 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1414814477 CA412475826 |
294 | R>T | No |
ClinGen TOPMed |
|
|
CA327221355 rs1043071490 |
296 | Q>E | No |
ClinGen Ensembl |
|
|
CA412475774 rs1474964640 |
297 | K>N | No |
ClinGen TOPMed |
|
|
CA412475759 rs1196347111 |
298 | I>M | No |
ClinGen gnomAD |
|
|
CA327221354 rs753016984 |
302 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 307 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 307 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1162566635 CA412475687 |
308 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 313 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412475609 rs148995160 |
315 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148995160 CA10357021 |
315 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 318 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370911868 CA10357020 |
325 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs760860238 CA10357019 |
328 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766086337 CA10357017 |
330 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs945198414 CA327221353 |
331 | K>R | No |
ClinGen TOPMed |
|
|
rs763009067 CA10357016 |
335 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA10357002 rs374430696 |
342 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA327221015 rs983238790 |
344 | K>N | No |
ClinGen TOPMed |
|
|
CA10357001 rs756391001 |
347 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752853196 CA10357000 |
348 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138897680 CA10356999 |
348 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1333403911 COSM70334 CA412473655 |
349 | E>K | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA412473621 rs1448165594 |
351 | P>A | No |
ClinGen TOPMed |
|
|
CA412473625 rs1448165594 |
351 | P>T | No |
ClinGen TOPMed |
|
|
rs1464284459 CA412473550 |
354 | F>Y | No |
ClinGen gnomAD |
|
|
rs765111510 CA10356996 |
363 | K>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 366 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 366 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1312532570 CA412471051 |
369 | V>M | No |
ClinGen TOPMed |
|
|
CA10356975 rs761910024 |
370 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1172314082 CA412470853 |
382 | L>R | No |
ClinGen gnomAD |
|
|
rs369198202 CA10356974 |
383 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764056005 CA412470824 |
384 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA327220314 rs1048600710 |
384 | A>T | No |
ClinGen TOPMed |
|
|
rs764056005 CA10356973 |
384 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA327220313 rs765048544 |
386 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA412470720 rs1483736686 |
390 | T>A | No |
ClinGen TOPMed |
|
|
CA10356971 rs775014073 |
391 | K>R | No |
ClinGen ExAC |
|
|
CA412470679 rs1200073294 |
392 | K>R | No |
ClinGen TOPMed |
|
|
rs896795921 CA327220312 |
393 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 396 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 398 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1260484642 CA412469791 |
400 | L>P | No |
ClinGen TOPMed |
|
|
rs1164442212 CA412469768 |
402 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA10356959 rs775503464 |
403 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1185996624 CA412469707 |
405 | A>V | No |
ClinGen TOPMed |
|
|
CA10356958 rs757122477 |
407 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1602230523 CA412469692 |
407 | I>V | No |
ClinGen Ensembl |
|
|
CA412469609 rs1193718498 |
411 | R>G | No |
ClinGen gnomAD |
|
|
CA327220067 rs939478017 |
418 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA10356945 rs776644709 |
422 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA412469355 rs1289166065 |
424 | F>L | No |
ClinGen gnomAD |
|
|
CA412469292 rs1199512153 |
428 | A>V | No |
ClinGen gnomAD |
|
|
CA412468838 rs1347192731 |
439 | H>R | No |
ClinGen gnomAD |
|
|
CA412468802 rs1274286121 |
440 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 442 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10356881 rs746750078 |
443 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs775412284 CA10356880 |
444 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10356877 rs778254775 |
448 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA10356879 rs745431267 |
448 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM181844 CA412468644 rs1191328413 |
448 | M>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs745431267 CA10356878 |
448 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412468503 rs1196744933 |
455 | T>I | No |
ClinGen TOPMed |
|
|
rs146570387 CA10356876 |
458 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA327217533 rs762507057 |
463 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA412466980 rs1434120201 |
466 | K>R | No |
ClinGen TOPMed |
|
|
rs1247194991 CA412466920 |
471 | V>I | No |
ClinGen gnomAD |
|
|
rs372927744 CA10356822 |
472 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367685844 CA10356821 |
473 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769420240 CA10356820 |
474 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA412466877 rs1362983617 |
475 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1026552016 CA327216147 |
481 | R>Q | No |
ClinGen gnomAD |
|
|
rs761440751 CA327215954 |
488 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 494 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763704576 CA10356800 |
495 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1247390464 CA412466212 |
495 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 496 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10356799 rs760369911 |
496 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA412466185 rs1252610087 |
497 | L>F | No |
ClinGen gnomAD |
|
|
rs1287342730 CA412466156 |
500 | V>I | No |
ClinGen TOPMed |
|
|
CA10356798 rs775775118 |
503 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772498309 COSM1118513 CA10356797 |
504 | V>I | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs990756722 CA327215953 |
505 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA327215952 rs748507222 |
506 | G>E | No |
ClinGen Ensembl |
|
|
rs1346300345 CA412466068 |
509 | M>K | No |
ClinGen gnomAD |
|
| TCGA novel | 510 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412466010 rs1369857948 |
512 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 515 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 517 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1165433047 CA412465182 |
518 | P>L | No |
ClinGen TOPMed |
|
|
rs1278783605 CA412465114 |
525 | F>L | No |
ClinGen gnomAD |
|
|
CA327215460 rs963600197 |
525 | F>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 527 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10356777 rs189978215 |
534 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771465463 CA10356776 |
538 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA412464933 rs1435639281 |
543 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 549 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10356772 rs748113836 |
556 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1286171909 CA412464731 |
561 | L>P | No |
ClinGen gnomAD |
|
|
rs1305835904 CA412464703 |
563 | S>C | No |
ClinGen gnomAD |
|
|
CA327215457 rs374569479 |
564 | S>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA10356759 rs767206037 |
565 | D>E | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 566 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10356758 rs759155589 |
567 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412464614 rs1484614895 |
567 | Y>H | No |
ClinGen gnomAD |
|
|
CA10356757 rs751985222 |
568 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA412464570 rs1336463018 |
573 | D>N | No |
ClinGen gnomAD |
|
|
rs1271079506 CA412464560 |
574 | S>N | No |
ClinGen gnomAD |
|
|
rs766717924 CA10356756 |
575 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs142220657 CA10356755 |
581 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770159997 CA10356753 |
584 | E>K | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9NRF8
Functions
| Description | ||
|---|---|---|
| EC Number | 6.3.4.2 | Other carbon--nitrogen ligases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoophidium | A subcellular filamentary structure where CTP synthase is compartmentalized in a range of organisms including bacteria, yeast, fruit fly, rat and human. |
| 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. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| CTP synthase activity | Catalysis of the reaction: ATP + UTP + glutamine + H20= ADP + phosphate + CTP + glutamate. |
| identical protein binding | Binding to an identical protein or proteins. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| 'de novo' CTP biosynthetic process | The chemical reactions and pathways resulting in the formation of cytidine 5'-triphosphate (CTP) from simpler components. |
| CTP biosynthetic process | The chemical reactions and pathways resulting in the formation of CTP, cytidine 5'-triphosphate. |
| glutamine metabolic process | The chemical reactions and pathways involving glutamine, 2-amino-4-carbamoylbutanoic acid. |
| pyrimidine nucleobase biosynthetic process | The chemical reactions and pathways resulting in the formation of pyrimidine nucleobases, 1,3-diazine, organic nitrogenous bases. |
| pyrimidine nucleotide metabolic process | The chemical reactions and pathways involving a pyrimidine nucleotide, a compound consisting of nucleoside (a pyrimidine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q1RMS2 | CTPS2 | CTP synthase 2 | Bos taurus (Bovine) | PR |
| Q5F3Z1 | CTPS2 | CTP synthase 2 | Gallus gallus (Chicken) | PR |
| P17812 | CTPS1 | CTP synthase 1 | Homo sapiens (Human) | PR |
| P70698 | Ctps1 | CTP synthase 1 | Mus musculus (Mouse) | PR |
| P70303 | Ctps2 | CTP synthase 2 | Mus musculus (Mouse) | PR |
| Q5U2N0 | Ctps2 | CTP synthase 2 | Rattus norvegicus (Rat) | PR |
| Q6PEI7 | ctps1 | CTP synthase 1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKYILVTGGV | ISGIGKGIIA | SSIGTILKSC | GLRVTAIKID | PYINIDAGTF | SPYEHGEVFV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LNDGGEVDLD | LGNYERFLDI | NLYKDNNITT | GKIYQHVINK | ERRGDYLGKT | VQVVPHITDA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VQEWVMNQAK | VPVDGNKEEP | QICVIELGGT | IGDIEGMPFV | EAFRQFQFKA | KRENFCNIHV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SLVPQLSATG | EQKTKPTQNS | VRALRGLGLS | PDLIVCRSST | PIEMAVKEKI | SMFCHVNPEQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VICIHDVSST | YRVPVLLEEQ | SIVKYFKERL | HLPIGDSASN | LLFKWRNMAD | RYERLQKICS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IALVGKYTKL | RDCYASVFKA | LEHSALAINH | KLNLMYIDSI | DLEKITETED | PVKFHEAWQK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LCKADGILVP | GGFGIRGTLG | KLQAISWART | KKIPFLGVCL | GMQLAVIEFA | RNCLNLKDAD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| STEFRPNAPV | PLVIDMPEHN | PGNLGGTMRL | GIRRTVFKTE | NSILRKLYGD | VPFIEERHRH |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RFEVNPNLIK | QFEQNDLSFV | GQDVDGDRME | IIELANHPYF | VGVQFHPEFS | SRPMKPSPPY |
| 550 | 560 | 570 | 580 | ||
| LGLLLAATGN | LNAYLQQGCK | LSSSDRYSDA | SDDSFSEPRI | AELEIS |