P22234
PR
Gene name |
PAICS |
Protein name |
Bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase |
Names |
PAICS |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10606 |
EC number |
4.1.1.21: Carboxy-lyases |
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
5 structures for P22234
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2H31 | X-ray | 280 A | A | 1-425 | PDB |
| 6YB8 | X-ray | 236 A | A/B | 1-425 | PDB |
| 6YB9 | X-ray | 241 A | A/B | 1-425 | PDB |
| 7ALE | X-ray | 295 A | A/B | 1-425 | PDB |
| AF-P22234-F1 | Predicted | AlphaFoldDB |
316 variants for P22234
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA2930671 VAR_085931 rs192831239 |
53 | K>R | PAICSD; unknown pathological significance; no effect on protein abundance; decreased phosphoribosylaminoimidazole carboxylase activity; decreased phosphoribosylaminoimidazolesuccinocarboxamide synthase activity [UniProt] | Yes |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2930631 rs774260057 |
2 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA97607918 rs1044061502 |
3 | T>A | No |
ClinGen Ensembl |
|
|
rs906895206 CA97607919 |
5 | E>G | No |
ClinGen Ensembl |
|
|
rs1167041596 CA356982567 |
7 | L>P | No |
ClinGen gnomAD |
|
|
CA356982568 rs1167041596 |
7 | L>R | No |
ClinGen gnomAD |
|
|
CA2930651 rs748878127 |
8 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs768421711 CA2930652 |
9 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2930653 rs773985258 |
11 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs553472600 CA97611749 |
13 | L>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA356982644 rs1340737667 |
14 | Y>C | No |
ClinGen gnomAD |
|
|
rs761645139 CA2930654 |
14 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs761645139 CA356982638 |
14 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs1431936983 CA356982705 |
20 | E>Q | No |
ClinGen gnomAD |
|
|
rs746244172 CA97611757 |
22 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2930656 rs773166026 |
23 | E>K | Variant assessed as Somatic; 4.751e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2930657 rs377520975 |
24 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2930659 rs752884317 |
26 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1220331088 CA356982769 |
26 | D>H | No |
ClinGen gnomAD |
|
|
CA356982786 rs1488708849 |
27 | S>T | No |
ClinGen gnomAD |
|
|
rs1328329910 CA356982797 |
28 | P>A | No |
ClinGen TOPMed |
|
|
CA2930660 rs763085698 |
30 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1225475816 CA356982836 |
32 | L>F | No |
ClinGen TOPMed |
|
|
rs370970867 CA356982846 |
33 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370970867 CA2930662 |
33 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356982852 rs1182426731 |
34 | Q>* | No |
ClinGen gnomAD |
|
|
CA356982854 rs1384522348 |
34 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA356982855 rs1384522348 |
34 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2930664 rs775711628 |
35 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199691030 CA2930665 |
36 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356982898 rs1318110187 |
38 | Q>* | No |
ClinGen gnomAD |
|
|
rs1343839010 CA356982905 |
38 | Q>H | No |
ClinGen gnomAD |
|
|
rs1450601608 CA356982910 |
39 | I>V | No |
ClinGen gnomAD |
|
|
rs370569487 CA2930666 |
40 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA356982932 rs1412521425 |
41 | A>T | No |
ClinGen gnomAD |
|
|
CA97611902 rs199981225 |
43 | N>D | No |
ClinGen 1000Genomes |
|
|
rs1382688404 CA356982975 |
44 | A>T | No |
ClinGen gnomAD |
|
|
CA2930668 rs779424819 |
47 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1204821757 CA356983058 |
48 | N>K | No |
ClinGen gnomAD |
|
|
rs1459808803 CA356983080 |
49 | H>D | No |
ClinGen gnomAD |
|
|
CA2930670 rs768171255 |
51 | E>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 54 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1346239994 CA356983244 |
55 | A>T | No |
ClinGen TOPMed |
|
|
CA2930672 rs562121018 |
56 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356983358 rs773078210 |
60 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1156492402 CA356983361 |
61 | T>A | No |
ClinGen gnomAD |
|
|
CA2930675 rs760596362 |
62 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1337739543 CA356983384 |
63 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1406025616 CA356983445 |
66 | Q>* | No |
ClinGen gnomAD |
|
|
CA356983516 rs1333921816 |
69 | Q>P | No |
ClinGen gnomAD |
|
|
CA2930677 rs775405273 |
70 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1238406116 CA356983575 |
72 | G>S | No |
ClinGen gnomAD |
|
|
CA356984980 rs1188680247 |
73 | I>M | No |
ClinGen gnomAD |
|
|
CA356984988 rs1165923819 |
74 | K>Q | No |
ClinGen gnomAD |
|
|
rs1262815645 CA356985107 |
78 | T>N | No |
ClinGen gnomAD |
|
|
rs1488276773 CA356985160 |
81 | C>R | No |
ClinGen TOPMed |
|
|
rs1028051898 CA97615565 |
81 | C>Y | No |
ClinGen Ensembl |
|
|
CA356985191 rs1387615130 |
82 | G>E | No |
ClinGen gnomAD |
|
|
CA97615567 rs955142146 |
83 | E>V | No |
ClinGen Ensembl |
|
|
CA356985239 rs1162935974 |
84 | T>I | No |
ClinGen gnomAD |
|
|
CA356985263 rs1363956805 |
85 | A>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 86 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767891808 CA2930701 |
89 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1560660262 CA356985392 |
92 | E>G | No |
ClinGen Ensembl |
|
|
CA356985388 rs1384037483 |
92 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA356985457 rs1578152271 |
94 | I>T | No |
ClinGen Ensembl |
|
|
CA356985467 rs1380298440 |
95 | P>T | No |
ClinGen gnomAD |
|
|
CA2930703 rs201315571 |
96 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766756958 CA2930704 |
98 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754374739 CA2930705 |
99 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1312223382 CA356985573 |
101 | R>G | No |
ClinGen gnomAD |
|
|
CA2930706 rs754389538 |
102 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA356985622 rs1216109465 |
103 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 104 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2930707 rs369183397 |
105 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1485776828 CA356985642 |
105 | T>I | No |
ClinGen gnomAD |
|
|
CA356985651 rs1397940239 |
106 | G>D | No |
ClinGen TOPMed |
|
|
CA2930708 rs752273829 |
110 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 113 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356985746 rs1245515166 |
113 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs758019237 CA2930709 |
114 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2930710 rs777455868 |
116 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746737970 CA2930711 |
117 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs757076250 CA2930712 |
118 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA356985824 rs1363434073 |
119 | Y>C | No |
ClinGen gnomAD |
|
|
rs745802914 CA2930714 |
123 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1406767477 CA356985889 |
123 | P>L | No |
ClinGen gnomAD |
|
|
CA356985897 rs1334567209 |
124 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1334567209 CA356985900 |
124 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA97615701 rs913575905 |
124 | P>S | No |
ClinGen gnomAD |
|
|
CA356985913 rs1378531955 |
125 | K>N | No |
ClinGen gnomAD |
|
|
CA2930715 rs769916779 |
127 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA356985949 rs1314694332 |
128 | L>F | No |
ClinGen gnomAD |
|
|
CA2930716 rs199953702 |
128 | L>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748286211 CA2930717 |
130 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356986745 rs1314038157 |
133 | D>V | No |
ClinGen TOPMed |
|
|
rs1263342213 CA356986768 |
135 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1263342213 CA356986766 |
135 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs188741488 CA2930731 |
135 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2930733 rs180705924 |
136 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 137 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764478473 CA97616877 |
138 | P>A | No |
ClinGen TOPMed |
|
|
CA356986817 rs764478473 |
138 | P>T | No |
ClinGen TOPMed |
|
|
rs1480023389 CA356986831 |
139 | Q>K | No |
ClinGen gnomAD |
|
|
CA356986866 rs1196934647 |
140 | W>C | No |
ClinGen gnomAD |
|
|
rs138933625 CA2930734 |
141 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2930737 rs772284340 |
142 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA356986957 rs1410413606 |
145 | L>P | No |
ClinGen gnomAD |
|
|
CA356986973 rs1474104182 |
146 | I>M | No |
ClinGen TOPMed |
|
|
rs985483193 CA97616912 |
146 | I>T | No |
ClinGen Ensembl |
|
|
rs1169170580 CA356986981 |
147 | A>D | No |
ClinGen gnomAD |
|
|
rs1379131129 CA356986975 |
147 | A>T | No |
ClinGen gnomAD |
|
|
CA2930738 rs184494736 |
148 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA97616926 rs765022947 |
149 | K>Q | No |
ClinGen Ensembl |
|
|
CA2930739 rs771128512 |
153 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA97616943 rs913894439 |
154 | G>A | No |
ClinGen TOPMed |
|
|
rs373654453 CA97616957 |
156 | L>F | No |
ClinGen ESP gnomAD |
|
| TCGA novel | 156 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356987150 rs373654453 |
156 | L>V | No |
ClinGen ESP gnomAD |
|
|
CA2930741 rs777026500 |
157 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2930742 rs759946495 |
158 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA356987258 rs1272892168 |
163 | D>G | No |
ClinGen gnomAD |
|
|
CA2930744 rs770241161 |
164 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA356987290 rs1215185066 |
165 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1224805484 CA356987355 |
167 | H>L | No |
ClinGen gnomAD |
|
|
CA356987406 rs1560661288 |
169 | T>R | No |
ClinGen Ensembl |
|
|
rs762387719 CA356987498 |
173 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356987509 rs1220003851 |
173 | F>L | No |
ClinGen gnomAD |
|
|
rs762387719 CA2930746 |
173 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763578528 CA2930747 |
174 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356987602 rs1475600475 |
177 | E>A | No |
ClinGen gnomAD |
|
|
rs1185919611 CA356987611 |
177 | E>D | No |
ClinGen gnomAD |
|
|
rs1313881393 CA356987733 |
182 | P>L | No |
ClinGen TOPMed |
|
|
rs1560661325 CA356987777 |
184 | N>S | No |
ClinGen Ensembl |
|
|
CA2930749 rs751073813 |
187 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751073813 CA356987834 |
187 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767134289 CA2930750 |
188 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA356987849 rs1364600243 |
188 | V>I | No |
ClinGen gnomAD |
|
|
rs750175213 CA2930751 |
190 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356988210 rs1266456936 |
200 | T>A | No |
ClinGen TOPMed |
|
|
VAR_051884 rs11549976 CA2930763 |
201 | K>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2930764 rs775884727 |
202 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA97617076 rs775884727 |
202 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA97617085 rs1008543492 |
203 | I>T | No |
ClinGen TOPMed |
|
|
CA356988314 rs1387117115 |
205 | L>F | No |
ClinGen gnomAD |
|
|
rs763421838 CA2930765 |
206 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356988330 rs1455013158 |
206 | A>T | No |
ClinGen gnomAD |
|
|
rs906235902 CA97617104 |
209 | I>T | No |
ClinGen TOPMed |
|
|
rs1242695903 CA356988448 |
210 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1018806692 CA97617107 |
210 | D>G | No |
ClinGen TOPMed |
|
|
CA356988438 rs1382188652 |
210 | D>N | No |
ClinGen gnomAD |
|
|
CA356988456 rs1393250559 |
211 | N>S | No |
ClinGen TOPMed |
|
|
CA356988523 rs1281497080 |
213 | S>C | No |
ClinGen gnomAD |
|
|
rs1351601877 CA356988553 |
214 | W>* | No |
ClinGen gnomAD |
|
|
rs1293713571 CA356988576 |
215 | R>K | No |
ClinGen TOPMed |
|
|
rs1352487398 CA356988628 |
217 | W>* | No |
ClinGen TOPMed |
|
|
CA2930767 rs773900006 |
217 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA356988622 rs1325385893 |
217 | W>R | No |
ClinGen gnomAD |
|
| TCGA novel | 218 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1459640407 CA356988783 |
222 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA356988781 rs1459640407 |
222 | R>G | No |
ClinGen gnomAD |
|
|
CA2930769 rs761243513 |
222 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2930768 rs761243513 |
222 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2930771 rs760497195 |
225 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA356988856 rs1578154110 |
226 | K>E | No |
ClinGen Ensembl |
|
|
CA2930772 rs766254021 |
227 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA356988874 rs766254021 |
227 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs6825812 CA97617127 |
228 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA97618274 rs984336101 |
230 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 232 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs908385151 CA97618284 |
232 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA356990044 CA97618291 rs940745017 |
233 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA97618298 rs372939831 |
234 | L>F | No |
ClinGen ESP |
|
|
CA356990112 rs1270577432 |
236 | E>A | No |
ClinGen gnomAD |
|
| TCGA novel | 236 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1481626793 CA356990148 |
237 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1036438243 CA97618304 |
238 | T>P | No |
ClinGen TOPMed |
|
|
rs865838824 CA356990191 |
239 | P>S | No |
ClinGen gnomAD |
|
|
CA97618305 rs865838824 |
239 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 240 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1052633287 CA97618306 |
241 | G>R | No |
ClinGen TOPMed |
|
|
CA356990369 rs1376390098 |
245 | V>A | No |
ClinGen TOPMed |
|
|
CA356990347 rs1170119557 |
245 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 246 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1578155879 CA356990446 |
248 | N>H | No |
ClinGen Ensembl |
|
|
rs756370715 CA2930782 |
248 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1050687283 CA97618335 |
250 | E>Q | No |
ClinGen TOPMed |
|
|
CA356990651 rs1578155907 |
251 | W>* | No |
ClinGen Ensembl |
|
|
CA356990682 rs866870232 |
252 | V>F | No |
ClinGen gnomAD |
|
|
rs866870232 CA97618341 |
252 | V>I | No |
ClinGen gnomAD |
|
|
rs866870232 CA356990672 |
252 | V>L | No |
ClinGen gnomAD |
|
|
CA356990703 rs1364438423 |
253 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1270671058 CA356990742 |
254 | E>G | No |
ClinGen gnomAD |
|
|
rs1229572391 CA356990732 |
254 | E>K | No |
ClinGen gnomAD |
|
|
rs1456517711 CA356990827 |
256 | V>L | No |
ClinGen TOPMed |
|
|
rs1263058178 CA356989256 |
258 | L>F | No |
ClinGen gnomAD |
|
|
CA356989267 rs1464799645 |
259 | L>F | No |
ClinGen gnomAD |
|
|
rs771504681 CA2930794 |
259 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA356989372 rs1221415176 |
263 | E>D | No |
ClinGen TOPMed |
|
|
CA2930795 rs772896399 |
266 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1445287745 CA356989421 |
266 | C>Y | No |
ClinGen gnomAD |
|
|
rs766199132 CA2930797 |
267 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA97569349 rs993469644 |
268 | V>L | No |
ClinGen TOPMed |
|
|
CA356989493 rs1455165838 |
269 | V>A | No |
ClinGen gnomAD |
|
|
rs201075940 CA2930798 |
270 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201075940 CA97569350 |
270 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2930800 rs765151186 |
273 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA2930802 rs758414050 |
274 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs367790847 CA2930805 |
279 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2930806 rs780614478 |
281 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2930807 rs756317430 |
281 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356989802 rs1207443802 |
282 | E>G | No |
ClinGen gnomAD |
|
|
rs1430625186 CA356989826 |
283 | K>E | No |
ClinGen TOPMed |
|
|
rs1202212340 CA356989874 |
284 | I>M | No |
ClinGen TOPMed |
|
|
rs376971719 CA2930810 |
287 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780270261 CA2930809 |
287 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA97569351 rs780270261 |
287 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356989967 rs780270261 |
287 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176319891 CA356990014 |
288 | C>Y | No |
ClinGen TOPMed |
|
|
rs1259546894 CA356990123 |
290 | N>K | No |
ClinGen TOPMed |
|
|
CA356990110 rs1480769855 |
290 | N>S | No |
ClinGen TOPMed |
|
|
CA356990219 rs1421065108 |
292 | G>S | No |
ClinGen gnomAD |
|
|
CA2930811 rs755330401 |
292 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA2930813 rs748579905 |
297 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs772673782 CA2930814 |
298 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2930815 rs772842876 |
298 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1011310035 CA97569352 |
299 | V>I | No |
ClinGen Ensembl |
|
|
rs746573083 CA2930816 |
300 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs770647186 CA2930817 |
302 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA97569353 rs1021316291 |
303 | H>Y | No |
ClinGen Ensembl |
|
|
rs941080985 CA97569354 |
304 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1226938650 CA356990583 |
305 | G>R | No |
ClinGen gnomAD |
|
|
rs116600135 CA2930819 |
306 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764923107 CA2930821 |
310 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1370337319 CA356990812 |
313 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA356990826 rs1254382663 |
314 | A>T | No |
ClinGen gnomAD |
|
|
CA2930824 rs762798410 |
315 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA2930823 rs762798410 |
315 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1316792915 CA356990874 |
316 | Y>C | No |
ClinGen Ensembl |
|
|
CA356990867 rs1471492576 |
316 | Y>H | No |
ClinGen gnomAD |
|
|
rs1201246378 CA356990882 |
317 | E>K | No |
ClinGen gnomAD |
|
|
rs1002461393 CA97569355 |
318 | G>R | No |
ClinGen Ensembl |
|
|
rs774304478 CA356991144 |
319 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2930842 rs774304478 |
319 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356991157 rs1340094290 |
320 | G>C | No |
ClinGen gnomAD |
|
|
rs760696805 CA2930843 |
320 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1292757868 CA356991176 |
321 | I>T | No |
ClinGen gnomAD |
|
|
rs941030290 CA97569526 |
321 | I>V | No |
ClinGen TOPMed |
|
|
rs369448742 CA356991193 |
322 | P>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA97569527 rs369448742 |
322 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2930844 rs766423126 |
323 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1486125974 CA356991227 |
324 | V>A | No |
ClinGen gnomAD |
|
|
rs753990520 CA2930845 |
324 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA97569528 rs371685923 |
332 | S>N | No |
ClinGen ESP |
|
|
rs1578158884 CA356991344 |
332 | S>R | No |
ClinGen Ensembl |
|
| TCGA novel | 333 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356991360 rs1163903279 |
334 | G>S | No |
ClinGen gnomAD |
|
|
CA356991387 rs1405157639 |
336 | G>E | No |
ClinGen gnomAD |
|
|
rs1342126641 CA356991402 |
338 | V>M | No |
ClinGen TOPMed |
|
|
CA356991414 rs1347500604 |
339 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA356991510 rs1294011228 |
347 | V>G | No |
ClinGen Ensembl |
|
|
rs757883135 CA356991523 |
349 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757883135 CA2930852 |
349 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1363183479 CA356991551 |
350 | C>Y | No |
ClinGen gnomAD |
|
|
rs932199167 CA97569529 |
351 | P>R | No |
ClinGen Ensembl |
|
|
rs1039995172 CA97569530 |
353 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1226420719 CA356991608 |
355 | P>R | No |
ClinGen gnomAD |
|
|
CA2930854 rs189395293 |
355 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA97569531 rs899984154 |
363 | W>* | No |
ClinGen TOPMed |
|
|
rs769276604 CA2930855 |
364 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356991729 rs1246112510 |
365 | S>F | No |
ClinGen gnomAD |
|
|
CA2930856 rs779762217 |
366 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 366 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1183609244 CA356991742 |
367 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1190902246 CA356991744 |
367 | R>Q | No |
ClinGen TOPMed |
|
|
CA356991749 rs1471585274 |
368 | L>I | No |
ClinGen gnomAD |
|
|
CA356991755 rs1178541128 |
368 | L>P | No |
ClinGen gnomAD |
|
|
CA356991761 rs1458080819 |
369 | P>S | No |
ClinGen gnomAD |
|
|
rs946153478 CA97569532 |
371 | G>S | No |
ClinGen Ensembl |
|
|
CA2930867 rs766164374 |
373 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA2930868 rs763356434 |
374 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA356993444 rs1578164051 |
376 | T>N | No |
ClinGen Ensembl |
|
|
rs752041122 CA2930870 |
377 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2930871 rs752041122 |
377 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2930872 rs768084727 |
378 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs908001665 CA97574119 |
380 | P>A | No |
ClinGen TOPMed |
|
|
CA356993501 rs1286187536 |
382 | G>R | No |
ClinGen gnomAD |
|
|
rs942160873 CA97574129 |
385 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 389 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1347131133 CA356993592 |
390 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 393 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749838681 CA2930873 |
394 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2930875 rs369737448 |
396 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1454636962 CA356993679 |
398 | V>I | No |
ClinGen TOPMed |
|
|
CA2930877 rs754664792 |
399 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778675120 CA2930878 |
400 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356993728 rs1347343801 |
402 | L>P | No |
ClinGen TOPMed |
|
|
rs572364107 CA2930880 |
403 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2930881 rs376026175 |
403 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356993778 rs1200280816 |
407 | L>W | No |
ClinGen gnomAD |
|
|
rs745894323 CA2930882 |
408 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA356993802 rs1169677475 |
409 | T>I | No |
ClinGen gnomAD |
|
|
rs1429399080 CA356993828 |
411 | I>T | No |
ClinGen gnomAD |
|
|
rs775478666 CA2930885 |
412 | S>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 414 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356993867 rs1367274954 |
415 | Q>P | No |
ClinGen gnomAD |
|
|
rs763267836 CA2930886 |
417 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA2930887 rs764472966 |
418 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA356993906 rs1185900447 |
418 | K>R | No |
ClinGen TOPMed |
|
|
CA2930888 rs774802084 |
420 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1297642271 CA356993950 |
422 | E>G | No |
ClinGen gnomAD |
|
|
CA2930890 rs144785850 |
422 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1219242469 CA356993960 |
423 | C>G | No |
ClinGen gnomAD |
|
|
rs200645694 CA2930891 |
423 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2930892 rs756627780 |
425 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765883096 CA2930893 |
426 | L>Q | No |
ClinGen ExAC gnomAD |
1 associated diseases with P22234
[MIM: 619859]: Phosphoribosylaminoimidazole carboxylase deficiency (PAICSD)
An autosomal recessive inborn error of purine metabolism, clinically characterized by multiple congenital anomalies and early neonatal death. {ECO:0000269|PubMed:31600779}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive inborn error of purine metabolism, clinically characterized by multiple congenital anomalies and early neonatal death. {ECO:0000269|PubMed:31600779}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 regional properties for P22234
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | PurE domain | 266 - 420 | IPR000031 |
| conserved_site | SAICAR synthetase, conserved site | 93 - 107 | IPR018236-1 |
| conserved_site | SAICAR synthetase, conserved site | 187 - 195 | IPR018236-2 |
| domain | SAICAR synthetase/ADE2, N-terminal | 10 - 258 | IPR028923 |
| domain | Class II PurE | 266 - 421 | IPR033626 |
Functions
| Description | ||
|---|---|---|
| EC Number | 4.1.1.21 | Carboxy-lyases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| 5-amino-4-imidazole carboxylate lyase activity | Catalysis of the reaction: 5-aminoimidazole + CO2 = 5-amino-4-imidazole carboxylate. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| identical protein binding | Binding to an identical protein or proteins. |
| phosphoribosylaminoimidazole carboxylase activity | Catalysis of the reaction: 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxylate + 2 H(+) = 5-amino-1-(5-phospho-D-ribosyl)imidazole + CO(2). |
| phosphoribosylaminoimidazolesuccinocarboxamide synthase activity | Catalysis of the reaction: 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxylate + L-aspartate + ATP = (2S)-2-[5-amino-1-(5-phospho-beta-D-ribosyl)imidazole-4-carboxamido]succinate + ADP + 2 H(+) + phosphate. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| 'de novo' AMP biosynthetic process | The chemical reactions and pathways resulting in the formation of adenosine monophosphate (AMP) from inosine 5'-monophosphate (IMP). |
| 'de novo' IMP biosynthetic process | The chemical reactions and pathways resulting in the formation of IMP, inosine monophosphate, by the stepwise assembly of a purine ring on ribose 5-phosphate. |
| 'de novo' XMP biosynthetic process | The chemical reactions and pathways resulting in the formation of XMP, xanthosine monophosphate, from simpler precursors. |
| GMP biosynthetic process | The chemical reactions and pathways resulting in the formation of GMP, guanosine monophosphate. |
| purine nucleobase biosynthetic process | The chemical reactions and pathways resulting in the formation of purine nucleobases, one of the two classes of nitrogen-containing ring compounds found in DNA and RNA, which include adenine and guanine. |
2 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9I7S8 | Paics | Bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase | Drosophila melanogaster (Fruit fly) | PR |
| Q9DCL9 | Paics | Bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATAEVLNIG | KKLYEGKTKE | VYELLDSPGK | VLLQSKDQIT | AGNAARKNHL | EGKAAISNKI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TSCIFQLLQE | AGIKTAFTRK | CGETAFIAPQ | CEMIPIEWVC | RRIATGSFLK | RNPGVKEGYK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FYPPKVELFF | KDDANNDPQW | SEEQLIAAKF | CFAGLLIGQT | EVDIMSHATQ | AIFEILEKSW |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LPQNCTLVDM | KIEFGVDVTT | KEIVLADVID | NDSWRLWPSG | DRSQQKDKQS | YRDLKEVTPE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GLQMVKKNFE | WVAERVELLL | KSESQCRVVV | LMGSTSDLGH | CEKIKKACGN | FGIPCELRVT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SAHKGPDETL | RIKAEYEGDG | IPTVFVAVAG | RSNGLGPVMS | GNTAYPVISC | PPLTPDWGVQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DVWSSLRLPS | GLGCSTVLSP | EGSAQFAAQI | FGLSNHLVWS | KLRASILNTW | ISLKQADKKI |
| RECNL |