P17812
PR
Gene name |
CTPS1 |
Protein name |
CTP synthase 1 |
Names |
CTP synthetase 1, UTP--ammonia ligase 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1503 |
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
265 variants for P17812
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs751260098 CA795186 RCV000687089 |
74 | Y>C | Severe combined immunodeficiency due to CTPS1 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA795190 RCV000815116 rs376970699 |
81 | R>H | Severe combined immunodeficiency due to CTPS1 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001054965 rs1642413763 |
96 | Y>C | Severe combined immunodeficiency due to CTPS1 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001218307 rs1642483599 |
124 | W>G | Severe combined immunodeficiency due to CTPS1 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001300372 rs143058120 CA795238 |
129 | A>V | Severe combined immunodeficiency due to CTPS1 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA21132672 rs372858150 RCV000697727 |
151 | V>M | Variant assessed as Somatic; impact. Severe combined immunodeficiency due to CTPS1 deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP NCI-TCGA TOPMed dbSNP gnomAD |
|
rs140029453 RCV001816869 RCV000804430 CA795259 |
158 | P>S | Severe combined immunodeficiency due to CTPS1 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1642600970 RCV001302496 |
196 | P>S | Severe combined immunodeficiency due to CTPS1 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA339903232 RCV000798214 rs1433781145 |
203 | E>Q | Severe combined immunodeficiency due to CTPS1 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1558142847 RCV000686024 CA339903364 |
212 | D>E | Severe combined immunodeficiency due to CTPS1 deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA339904293 RCV001051263 rs1484961348 |
264 | D>Y | Severe combined immunodeficiency due to CTPS1 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA795376 rs372743741 RCV000652307 |
294 | R>C | Variant assessed as Somatic; 0.0 impact. Severe combined immunodeficiency due to CTPS1 deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs746188198 CA795378 RCV000652308 |
297 | E>K | Severe combined immunodeficiency due to CTPS1 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA339905096 rs1553180295 RCV000652309 |
330 | H>N | Severe combined immunodeficiency due to CTPS1 deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA339905159 RCV001343618 rs1570970424 |
336 | Y>F | Severe combined immunodeficiency due to CTPS1 deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002538162 rs140093917 CA795406 RCV000813430 |
337 | I>V | Severe combined immunodeficiency due to CTPS1 deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs150289603 RCV001223628 CA795409 |
352 | V>M | Variant assessed as Somatic; 0.0 impact. Severe combined immunodeficiency due to CTPS1 deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001341137 rs968928651 CA21144754 |
353 | R>C | Severe combined immunodeficiency due to CTPS1 deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000814556 CA795413 rs149054758 |
363 | S>G | Severe combined immunodeficiency due to CTPS1 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs139001308 RCV001299786 |
389 | R>P | Severe combined immunodeficiency due to CTPS1 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1643025482 RCV001305321 |
425 | D>V | Severe combined immunodeficiency due to CTPS1 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000896483 CA795491 rs139322260 |
426 | P>A | Severe combined immunodeficiency due to CTPS1 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA795492 RCV000793000 rs768930904 |
427 | T>M | Severe combined immunodeficiency due to CTPS1 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs373379651 RCV001206228 CA795495 |
432 | V>M | Severe combined immunodeficiency due to CTPS1 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001053259 rs375485430 CA795509 |
434 | V>I | Severe combined immunodeficiency due to CTPS1 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs568672601 CA795516 RCV001054007 |
460 | K>R | Severe combined immunodeficiency due to CTPS1 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA21150023 RCV000823296 CA795518 rs773684585 |
464 | M>I | Severe combined immunodeficiency due to CTPS1 deficiency [ClinVar] | Yes |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
CA21150877 RCV001235942 rs962110557 |
466 | K>R | Severe combined immunodeficiency due to CTPS1 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000815306 rs144358815 CA795539 |
468 | Y>C | Severe combined immunodeficiency due to CTPS1 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA795542 rs374862639 RCV001201743 RCV002560292 |
471 | A>T | Inborn genetic diseases Severe combined immunodeficiency due to CTPS1 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA795543 RCV001502337 rs75669611 |
473 | Y>H | Severe combined immunodeficiency due to CTPS1 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1643098135 RCV001325276 |
487 | V>L | Severe combined immunodeficiency due to CTPS1 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs776186929 RCV000820733 CA795582 |
550 | R>Q | Severe combined immunodeficiency due to CTPS1 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001313986 rs1643134667 |
566 | T>I | Severe combined immunodeficiency due to CTPS1 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001302682 rs755468825 RCV002539504 CA795619 |
590 | H>R | Severe combined immunodeficiency due to CTPS1 deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000520615 rs1553178485 |
1 | M>I | No |
ClinVar dbSNP |
|
|
CA795156 rs772880925 |
3 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339901071 rs1173809494 |
10 | V>G | No |
ClinGen gnomAD |
|
|
rs1399420536 CA339901078 |
11 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs868098496 CA21129458 |
13 | G>E | No |
ClinGen Ensembl |
|
|
rs545128484 CA795159 |
20 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 22 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA21129462 rs1020690759 |
22 | S>N | No |
ClinGen TOPMed |
|
|
rs756725880 CA21129465 |
25 | T>I | No |
ClinGen Ensembl |
|
|
CA339901171 rs1164218562 |
26 | I>L | No |
ClinGen TOPMed |
|
|
rs1414469321 CA339901192 |
29 | S>A | No |
ClinGen TOPMed |
|
|
CA795160 rs761020732 |
30 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs1288200124 CA339901220 |
33 | H>R | No |
ClinGen gnomAD |
|
|
rs1437591985 CA339901305 |
45 | I>T | No |
ClinGen TOPMed |
|
|
rs757447163 CA795163 |
46 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA795183 rs750649864 |
63 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs758478895 CA795184 |
65 | G>W | No |
ClinGen ExAC |
|
|
rs1449689893 CA339901463 |
67 | V>I | No |
ClinGen gnomAD |
|
|
rs766634874 CA795185 |
70 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA339901525 rs1390666438 |
76 | R>W | No |
ClinGen gnomAD |
|
|
rs992854556 CA21130303 |
80 | I>S | No |
ClinGen Ensembl |
|
|
rs748131892 CA21130313 |
81 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs748131892 CA795189 |
81 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA339901573 rs1570940245 |
84 | K>E | No |
ClinGen Ensembl |
|
|
CA795191 rs777081020 |
84 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1462856637 CA339901576 |
84 | K>R | No |
ClinGen TOPMed |
|
|
rs1305511593 CA339901580 |
85 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA795192 rs748844510 |
86 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774085033 CA795194 |
89 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA795196 rs769195447 |
92 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1558131729 CA339901632 |
93 | I>V | No |
ClinGen Ensembl |
|
|
CA795197 rs777269285 |
94 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1251825004 CA339901649 |
95 | Q>R | No |
ClinGen TOPMed |
|
|
rs1229612141 CA339901654 |
96 | Y>D | No |
ClinGen TOPMed |
|
|
rs765840007 CA795199 |
102 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA21130376 rs967797072 |
102 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs773103801 CA795201 |
103 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs751846370 CA795203 |
109 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA339901760 rs1396887884 |
111 | V>A | No |
ClinGen gnomAD |
|
|
rs779871759 CA795232 |
113 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1427323373 CA339901809 |
117 | I>V | No |
ClinGen gnomAD |
|
|
rs1175574453 CA339901820 |
118 | T>I | No |
ClinGen gnomAD |
|
|
rs1376132109 CA339901822 |
119 | D>H | No |
ClinGen gnomAD |
|
|
CA795235 rs200274195 |
121 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs969931235 CA21131839 |
125 | V>L | No |
ClinGen TOPMed |
|
|
rs980051840 CA21131844 |
126 | M>V | No |
ClinGen TOPMed |
|
|
rs369068887 CA21131850 |
127 | R>K | No |
ClinGen ESP |
|
|
rs770911785 CA339901886 |
128 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770911785 CA795237 |
128 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 132 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1558135973 CA339901921 |
133 | V>A | No |
ClinGen Ensembl |
|
|
CA339901954 rs1287745644 |
138 | L>V | No |
ClinGen TOPMed |
|
|
CA339901962 rs1219310921 |
139 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 139 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339901973 rs1300096532 |
141 | Q>E | No |
ClinGen gnomAD |
|
|
rs76891977 CA21131865 |
142 | V>E | No |
ClinGen Ensembl |
|
|
rs1230245306 CA339901981 |
142 | V>L | No |
ClinGen gnomAD |
|
|
CA795242 rs760367234 |
145 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA339902034 rs1244998862 |
148 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 150 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA21132697 rs111493048 |
162 | A>V | No |
ClinGen Ensembl |
|
|
rs5030799 CA21132709 |
167 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA339902181 rs1223926993 |
169 | K>T | No |
ClinGen TOPMed |
|
|
rs1375055654 CA339902222 |
174 | N>K | No |
ClinGen TOPMed |
|
| TCGA novel | 179 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339902262 rs1380415309 |
180 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA339903010 rs1332011741 |
186 | P>A | No |
ClinGen TOPMed |
|
|
rs1388344246 CA339903083 |
192 | Q>P | No |
ClinGen TOPMed |
|
|
rs757606681 CA795301 |
196 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA795302 rs765659493 |
202 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA339903301 rs1334012902 |
208 | G>R | No |
ClinGen gnomAD |
|
|
rs1275601402 CA339903336 |
210 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 214 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA795324 rs755074273 |
218 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA795325 rs781197940 |
220 | N>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 222 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1558143827 CA339903647 |
224 | T>A | No |
ClinGen Ensembl |
|
|
rs1459946330 CA339903805 |
237 | E>D | No |
ClinGen gnomAD |
|
|
CA339903812 rs1322740434 |
238 | P>H | No |
ClinGen gnomAD |
|
|
CA795327 rs756348375 |
239 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs910605244 CA21140754 |
248 | S>L | No |
ClinGen TOPMed |
|
|
rs1237832391 CA339904197 |
249 | S>A | No |
ClinGen gnomAD |
|
|
rs763285768 CA795338 |
252 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 253 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 259 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs960838266 CA21140787 |
260 | Q>* | No |
ClinGen Ensembl |
|
|
CA795340 rs752105512 |
262 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA21140820 rs988651280 |
263 | V>I | No |
ClinGen TOPMed |
|
|
CA339904318 rs1558150070 |
267 | L>F | No |
ClinGen Ensembl |
|
|
rs757565749 CA795341 |
268 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA21140824 rs757565749 |
268 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA21140836 rs376715076 |
268 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
|
rs768084498 CA795342 |
270 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1558150106 CA339904336 |
271 | D>N | No |
ClinGen Ensembl |
|
|
rs752776964 CA795343 |
273 | P>R | No |
ClinGen ExAC |
|
|
CA522452205 rs1558150141 |
274 | I>* | No |
ClinGen Ensembl |
|
|
rs756293454 CA795344 |
274 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA21140861 rs913948751 |
274 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA795345 rs778118708 |
276 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 281 | M>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754169230 CA795347 |
281 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA339904412 rs1570960862 |
282 | L>V | No |
ClinGen Ensembl |
|
|
CA795348 rs757068153 |
283 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 289 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339904707 rs1334392362 |
293 | D>G | No |
ClinGen gnomAD |
|
|
rs772950670 CA795377 |
294 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21142000 rs946377579 |
298 | T>I | No |
ClinGen TOPMed |
|
|
rs201674363 CA795379 |
300 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed |
|
CA21142013 rs902429844 |
301 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1280869081 CA339904927 |
308 | T>M | No |
ClinGen TOPMed |
|
| TCGA novel | 317 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761980609 CA795384 |
317 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA339905019 rs1213131324 |
318 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 322 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1216840778 CA339905053 |
323 | H>D | No |
ClinGen gnomAD |
|
|
CA339905071 rs1485440787 |
325 | A>V | No |
ClinGen gnomAD |
|
|
CA795388 rs568966876 |
328 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs878916397 CA21142088 |
329 | N>T | No |
ClinGen Ensembl |
|
|
CA339905107 rs1273058626 |
331 | K>T | No |
ClinGen gnomAD |
|
|
CA21142096 rs897158288 |
332 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA795389 rs751363108 |
333 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA339905136 rs1344018905 |
335 | K>R | No |
ClinGen gnomAD |
|
|
rs955932050 CA339905185 |
340 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs955932050 CA21144659 |
340 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs988433826 CA21144664 |
347 | S>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 348 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763171719 CA795407 |
348 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 349 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339905252 rs1181901878 |
350 | E>V | No |
ClinGen gnomAD |
|
|
rs759359795 CA795410 |
353 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA339905288 rs1176322200 |
356 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs752729298 CA795412 |
359 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA21144780 rs933464624 |
360 | K>R | No |
ClinGen TOPMed |
|
|
rs759304872 CA795430 |
365 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411078565 CA339905357 |
365 | H>R | No |
ClinGen gnomAD |
|
|
CA21145720 rs1035045929 |
367 | V>M | No |
ClinGen Ensembl |
|
|
rs377341376 CA795433 |
376 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1570972393 CA339905493 |
385 | I>V | No |
ClinGen Ensembl |
|
|
rs756273124 CA21145755 |
386 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA795435 rs753346173 |
388 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs139001308 CA795436 |
389 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA795439 rs755392632 |
394 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA339905563 rs1427493907 |
395 | F>S | No |
ClinGen TOPMed |
|
| rs36007898 | 396 | L>F | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339905591 rs1313438794 |
398 | V>M | No |
ClinGen gnomAD |
|
|
rs1308589550 CA339905619 CA339905620 |
402 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA339905641 rs1335975256 |
404 | L>F | No |
ClinGen gnomAD |
|
|
rs1570974451 CA339905650 |
406 | V>M | No |
ClinGen Ensembl |
|
|
rs928104008 CA21146515 |
412 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs778320711 CA795465 |
413 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 418 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758454289 CA795489 |
420 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 422 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139322260 CA339905799 |
426 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1186087104 CA339905804 |
427 | T>A | No |
ClinGen TOPMed |
|
|
CA21149921 rs995628555 |
434 | V>A | No |
ClinGen Ensembl |
|
|
CA339905871 rs1361861138 |
436 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1361861138 CA339905873 |
436 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA795511 rs755109679 |
437 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 438 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747923861 CA795513 |
440 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs879055654 CA21149941 |
441 | P>T | No |
ClinGen Ensembl |
|
|
CA21149948 rs373379365 |
442 | G>E | No |
ClinGen ESP |
|
|
CA339905918 rs777839795 |
443 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21149960 rs377749147 |
443 | Q>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA795515 rs777839795 |
443 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339905929 rs1242533359 |
444 | M>K | No |
ClinGen gnomAD |
|
|
CA339905933 rs1487911150 |
445 | G>S | No |
ClinGen gnomAD |
|
|
rs776113998 CA21149971 |
446 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 457 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1180858096 CA339906021 |
458 | Q>P | No |
ClinGen gnomAD |
|
|
CA339906029 rs1464852519 |
459 | T>N | No |
ClinGen gnomAD |
|
|
rs1402151545 CA339906055 |
463 | V>I | No |
ClinGen gnomAD |
|
|
rs969669837 CA21149997 |
464 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs770906549 CA795517 |
464 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339906059 rs969669837 |
464 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA21150873 rs1042011642 |
465 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs746596357 CA795540 |
469 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA795544 rs766769279 |
473 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA795547 rs767772882 |
479 | R>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 481 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339906228 rs1256913133 |
485 | N>S | No |
ClinGen gnomAD |
|
|
rs1315656781 CA339906233 |
486 | P>A | No |
ClinGen gnomAD |
|
|
rs374491345 CA795558 |
487 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339906279 rs1197308357 |
492 | L>S | No |
ClinGen gnomAD |
|
|
CA339906277 rs1421326142 |
492 | L>V | No |
ClinGen gnomAD |
|
|
CA339906333 rs1476067397 |
499 | F>C | No |
ClinGen gnomAD |
|
| TCGA novel | 502 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA795561 rs771384942 |
502 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1391097831 CA339906437 |
514 | L>V | No |
ClinGen gnomAD |
|
|
CA339906447 rs1464410039 |
515 | E>G | No |
ClinGen gnomAD |
|
|
rs371598753 CA795574 |
516 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754570151 CA795575 |
517 | H>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 517 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 518 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 520 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA21154851 rs376248212 |
521 | V>A | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 521 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339906499 rs1456618282 |
521 | V>F | No |
ClinGen gnomAD |
|
|
rs1297508246 CA339906508 |
522 | G>V | No |
ClinGen gnomAD |
|
|
CA339906506 rs1420186734 |
522 | G>W | No |
ClinGen gnomAD |
|
|
CA21154871 rs897972168 |
533 | P>L | No |
ClinGen gnomAD |
|
|
rs1194994072 CA339906595 |
535 | K>R | No |
ClinGen TOPMed |
|
|
CA339906605 rs1442569944 |
536 | P>L | No |
ClinGen TOPMed |
|
|
CA795579 rs779365316 |
540 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA339906655 rs1558172680 |
544 | L>P | No |
ClinGen Ensembl |
|
|
CA21154895 rs868285884 |
545 | L>M | No |
ClinGen Ensembl |
|
|
rs1194740794 CA339906661 |
546 | A>T | No |
ClinGen TOPMed |
|
|
CA339906669 rs1253616710 |
547 | S>A | No |
ClinGen TOPMed |
|
|
rs772675294 CA795581 |
547 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1253616710 CA339906668 |
547 | S>P | No |
ClinGen TOPMed |
|
|
rs552737439 CA21154926 |
550 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
rs760824348 CA795583 |
552 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1558172776 CA339906715 |
553 | H>L | No |
ClinGen Ensembl |
|
|
rs1454766195 CA339906743 |
556 | Q>E | No |
ClinGen TOPMed |
|
|
CA795586 rs762033803 |
560 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA795607 rs762727625 |
565 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA339906927 rs747605849 |
568 | S>R | No |
ClinGen gnomAD |
|
|
rs17856308 CA21155543 VAR_027055 |
571 | S>I | No |
ClinGen UniProt TOPMed dbSNP |
|
|
CA21155536 rs17856308 |
571 | S>N | No |
ClinGen TOPMed |
|
|
CA339906997 rs1311011345 |
575 | S>P | No |
ClinGen gnomAD |
|
|
CA795611 rs149425488 |
576 | P>R | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 581 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA795615 rs753610646 |
582 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA795616 rs753610646 |
582 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA339907095 rs1236096123 |
584 | K>N | No |
ClinGen gnomAD |
|
|
CA795617 rs780504017 |
585 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA795618 rs747353209 |
588 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1385399511 CA339907143 |
589 | N>I | No |
ClinGen gnomAD |
|
|
CA339907178 rs1372227666 |
592 | D>L | No |
ClinGen gnomAD |
1 associated diseases with P17812
[MIM: 615897]: Immunodeficiency 24 (IMD24)
A life-threatening immunodeficiency, characterized by an impaired capacity of activated T and B cells to proliferate in response to antigen receptor-mediated activation. Patients have early onset of severe chronic viral infections, mostly caused by herpes viruses, including EBV and varicella zooster virus (VZV), and also suffer from recurrent encapsulated bacterial infections, a spectrum of infections typical of a combined deficiency of adaptive immunity. {ECO:0000269|PubMed:24870241}. Note=The disease is caused by variants affecting the gene represented in this entry. A unique and recessive G to C mutation probably affecting a splice donor site at the junction of intron 17-18 and exon 18 has been identified in all patients. It results in expression of an abnormal transcript lacking exon 18 and a complete loss of the expression of the protein. {ECO:0000269|PubMed:24870241}.
Without disease ID
- A life-threatening immunodeficiency, characterized by an impaired capacity of activated T and B cells to proliferate in response to antigen receptor-mediated activation. Patients have early onset of severe chronic viral infections, mostly caused by herpes viruses, including EBV and varicella zooster virus (VZV), and also suffer from recurrent encapsulated bacterial infections, a spectrum of infections typical of a combined deficiency of adaptive immunity. {ECO:0000269|PubMed:24870241}. Note=The disease is caused by variants affecting the gene represented in this entry. A unique and recessive G to C mutation probably affecting a splice donor site at the junction of intron 17-18 and exon 18 has been identified in all patients. It results in expression of an abnormal transcript lacking exon 18 and a complete loss of the expression of the protein. {ECO:0000269|PubMed:24870241}.
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 | |
4 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
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. |
8 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. |
| B cell proliferation | The expansion of a B cell population by cell division. Follows B cell activation. |
| 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. |
| nucleobase-containing compound metabolic process | Any cellular metabolic process involving nucleobases, nucleosides, nucleotides and nucleic acids. |
| pyrimidine nucleobase biosynthetic process | The chemical reactions and pathways resulting in the formation of pyrimidine nucleobases, 1,3-diazine, organic nitrogenous bases. |
| response to xenobiotic stimulus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, 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. |
| T cell proliferation | The expansion of a T cell population by cell division. Follows T cell activation. |
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 |
| Q9NRF8 | CTPS2 | CTP synthase 2 | Homo sapiens (Human) | PR |
| P70303 | Ctps2 | CTP synthase 2 | Mus musculus (Mouse) | PR |
| P70698 | Ctps1 | CTP synthase 1 | 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 | SSVGTILKSC | GLHVTSIKID | PYINIDAGTF | SPYEHGEVFV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LDDGGEVDLD | LGNYERFLDI | RLTKDNNLTT | GKIYQYVINK | ERKGDYLGKT | VQVVPHITDA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IQEWVMRQAL | IPVDEDGLEP | QVCVIELGGT | VGDIESMPFI | EAFRQFQFKV | KRENFCNIHV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SLVPQPSSTG | EQKTKPTQNS | VRELRGLGLS | PDLVVCRCSN | PLDTSVKEKI | SMFCHVEPEQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VICVHDVSSI | YRVPLLLEEQ | GVVDYFLRRL | DLPIERQPRK | MLMKWKEMAD | RYDRLLETCS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IALVGKYTKF | SDSYASVIKA | LEHSALAINH | KLEIKYIDSA | DLEPITSQEE | PVRYHEAWQK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LCSAHGVLVP | GGFGVRGTEG | KIQAIAWARN | QKKPFLGVCL | GMQLAVVEFS | RNVLGWQDAN |
| 430 | 440 | 450 | 460 | 470 | 480 |
| STEFDPTTSH | PVVVDMPEHN | PGQMGGTMRL | GKRRTLFQTK | NSVMRKLYGD | ADYLEERHRH |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RFEVNPVWKK | CLEEQGLKFV | GQDVEGERME | IVELEDHPFF | VGVQYHPEFL | SRPIKPSPPY |
| 550 | 560 | 570 | 580 | 590 | |
| FGLLLASVGR | LSHYLQKGCR | LSPRDTYSDR | SGSSSPDSEI | TELKFPSINH | D |