P04818
Gene name |
TYMS |
Protein name |
Thymidylate synthase |
Names |
TS, TSase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7298 |
EC number |
2.1.1.45: Methyltransferases |
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
62 structures for P04818
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1HVY | X-ray | 190 A | A/B/C/D | 26-313 | PDB |
| 1HW3 | X-ray | 200 A | A | 1-313 | PDB |
| 1HW4 | X-ray | 206 A | A | 1-313 | PDB |
| 1HZW | X-ray | 200 A | A/B | 1-313 | PDB |
| 1I00 | X-ray | 250 A | A/B | 1-313 | PDB |
| 1JU6 | X-ray | 289 A | A/B/C/D | 1-313 | PDB |
| 1JUJ | X-ray | 300 A | A/B/C/D | 1-313 | PDB |
| 1YPV | X-ray | 180 A | A | 1-313 | PDB |
| 2ONB | X-ray | 270 A | A | 1-313 | PDB |
| 2RD8 | X-ray | 250 A | A/B | 1-313 | PDB |
| 2RDA | X-ray | 267 A | A/B/C/D/E/F | 1-313 | PDB |
| 3EAW | X-ray | 186 A | X | 1-313 | PDB |
| 3EBU | X-ray | 205 A | A | 1-313 | PDB |
| 3ED7 | X-ray | 156 A | A | 26-313 | PDB |
| 3EDW | X-ray | 175 A | X | 1-313 | PDB |
| 3EF9 | X-ray | 320 A | A | 1-313 | PDB |
| 3EGY | X-ray | 218 A | X | 1-313 | PDB |
| 3EHI | X-ray | 200 A | X | 1-313 | PDB |
| 3EJL | X-ray | 320 A | A/B/C/D | 1-313 | PDB |
| 3GG5 | X-ray | 277 A | A/B/C/D | 1-313 | PDB |
| 3GH0 | X-ray | 156 A | A | 1-313 | PDB |
| 3GH2 | X-ray | 175 A | X | 1-313 | PDB |
| 3H9K | X-ray | 265 A | A/B/C/D/E | 1-313 | PDB |
| 3HB8 | X-ray | 274 A | A/B/C/D/E | 1-313 | PDB |
| 3N5E | X-ray | 226 A | A/B | 1-313 | PDB |
| 3N5G | X-ray | 227 A | A | 1-313 | PDB |
| 3OB7 | X-ray | 275 A | A/B/C/D/E | 1-313 | PDB |
| 4E28 | X-ray | 230 A | A | 1-313 | PDB |
| 4FGT | X-ray | 200 A | A | 1-311 | PDB |
| 4G2O | X-ray | 225 A | X | 1-313 | PDB |
| 4G6W | X-ray | 230 A | X | 1-313 | PDB |
| 4GD7 | X-ray | 229 A | A | 1-313 | PDB |
| 4GYH | X-ray | 300 A | A | 1-313 | PDB |
| 4H1I | X-ray | 310 A | A/B/C/D | 1-313 | PDB |
| 4JEF | X-ray | 231 A | A | 26-311 | PDB |
| 4KPW | X-ray | 203 A | A | 1-313 | PDB |
| 4O1U | X-ray | 226 A | A/B | 1-313 | PDB |
| 4O1X | X-ray | 232 A | A/B/C/D | 1-313 | PDB |
| 4UP1 | X-ray | 299 A | A/B/C/D | 1-313 | PDB |
| 5HS3 | X-ray | 310 A | A/B/C/D/E/F | 26-313 | PDB |
| 5WRN | X-ray | 239 A | A/B/C/D/E/F | 26-313 | PDB |
| 5X4W | X-ray | 210 A | A | 1-313 | PDB |
| 5X4X | X-ray | 231 A | A | 1-313 | PDB |
| 5X4Y | X-ray | 220 A | A | 1-313 | PDB |
| 5X5A | X-ray | 239 A | A/B/C/D/E/F | 26-313 | PDB |
| 5X5D | X-ray | 200 A | A/B/C/D/E/F | 26-313 | PDB |
| 5X5Q | X-ray | 279 A | A/B/C/D/E/F | 26-313 | PDB |
| 5X66 | X-ray | 199 A | A/B/C/D/E/F | 26-313 | PDB |
| 5X67 | X-ray | 213 A | A/B | 26-313 | PDB |
| 5X69 | X-ray | 269 A | A/B/C/D/E/F | 26-313 | PDB |
| 6OJU | X-ray | 288 A | A/B/C/D | 26-313 | PDB |
| 6OJV | X-ray | 259 A | A/B/C/D | 26-313 | PDB |
| 6PF3 | X-ray | 239 A | A/B/C/D | 26-313 | PDB |
| 6PF4 | X-ray | 285 A | A/B/C/D | 26-313 | PDB |
| 6PF5 | X-ray | 239 A | A/B/C/D | 26-313 | PDB |
| 6PF6 | X-ray | 250 A | A/B/C/D | 26-313 | PDB |
| 6QXG | X-ray | 208 A | A/B/C | 1-313 | PDB |
| 6QXH | X-ray | 204 A | A/B/C | 1-313 | PDB |
| 6QYQ | X-ray | 225 A | A/B/C/D | 1-313 | PDB |
| 6R2E | X-ray | 255 A | A/B/C/D/E/F/G/H | 1-313 | PDB |
| 6ZXO | X-ray | 260 A | A/B/C/D/E/F | 1-313 | PDB |
| AF-P04818-F1 | Predicted | AlphaFoldDB |
193 variants for P04818
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| VAR_087693 | 87 | E>K | DKCD; unknown pathological significance [UniProt] | Yes | UniProt |
| VAR_087694 | 115 | R>del | DKCD; reduced TYMS levels in patient cells [UniProt] | Yes | UniProt |
| VAR_087695 | 160 | Q>H | DKCD; unknown pathological significance [UniProt] | Yes | UniProt |
| VAR_087696 | 271 | R>del | DKCD [UniProt] | Yes | UniProt |
|
rs1276365455 CA401668642 |
2 | P>H | No |
ClinGen gnomAD |
|
|
CA295416132 rs940303227 |
4 | A>G | No |
ClinGen Ensembl |
|
|
rs910134246 CA295416117 |
4 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs765119393 CA8867698 |
5 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1337198820 CA401668661 |
6 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA401668665 rs1257230944 |
6 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA401668664 rs1257230944 |
6 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1190217127 CA401668682 |
9 | P>L | No |
ClinGen gnomAD |
|
|
CA401668687 rs1350884240 |
10 | R>C | No |
ClinGen Ensembl |
|
|
rs985633324 CA295416167 |
10 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs985633324 CA401668689 |
10 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA401668696 rs1475132959 |
12 | P>A | No |
ClinGen gnomAD |
|
|
CA8867700 rs758379914 |
13 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA401668710 rs1172829435 |
14 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA401668712 rs1172829435 |
14 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1172829435 CA401668711 |
14 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA295416180 rs188268314 |
15 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8867702 rs746824953 |
15 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401668714 rs746824953 |
15 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8867701 rs188268314 |
15 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA401668735 rs1432304752 |
18 | Q>H | No |
ClinGen gnomAD |
|
|
CA401668732 rs1244183309 |
18 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA295416208 rs891810079 |
19 | E>K | No |
ClinGen Ensembl |
|
|
CA295416209 rs914193673 |
22 | A>T | No |
ClinGen TOPMed |
|
|
rs1365538416 CA401668771 |
24 | P>R | No |
ClinGen gnomAD |
|
|
CA8867705 rs781495898 |
24 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781495898 CA8867704 |
24 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA295416221 rs971608783 |
25 | R>H | No |
ClinGen gnomAD |
|
|
rs971608783 CA401668777 |
25 | R>L | No |
ClinGen gnomAD |
|
|
CA401668780 rs1280151022 |
26 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs945359619 CA295416224 |
27 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA401668785 rs1343318609 |
27 | P>S | No |
ClinGen gnomAD |
|
|
rs556984495 CA8867706 |
28 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401668796 rs1275814898 |
29 | G>R | No |
ClinGen TOPMed |
|
|
CA295416246 rs1034044510 |
32 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA401668840 rs1186795888 |
35 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA295416254 rs764376630 CA295416255 |
36 | Q>H | No |
ClinGen TOPMed |
|
|
CA8867707 rs780327998 |
42 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM1242972 rs749802693 CA8867708 |
42 | R>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
rs1376079761 CA401668958 |
46 | R>G | No |
ClinGen gnomAD |
|
|
rs1339068086 CA401668963 |
46 | R>K | No |
ClinGen TOPMed |
|
|
CA401668998 rs1470616694 |
48 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 49 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774517504 CA8867710 |
50 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8867711 rs762256027 |
52 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401669075 rs1373657786 |
53 | T>A | No |
ClinGen TOPMed |
|
|
rs1388727424 CA401669093 |
54 | G>S | No |
ClinGen gnomAD |
|
|
rs1422282745 CA401669129 |
56 | L>P | No |
ClinGen TOPMed |
|
|
CA401669144 rs1416155914 |
57 | S>W | No |
ClinGen gnomAD |
|
|
rs1332414425 CA401669215 |
61 | M>I | No |
ClinGen gnomAD |
|
|
CA295416277 rs1013467217 |
61 | M>L | No |
ClinGen TOPMed |
|
|
rs1235927523 CA401669230 |
62 | Q>R | No |
ClinGen gnomAD |
|
|
CA8867714 rs569127419 |
63 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1350646379 CA401669249 |
63 | A>V | No |
ClinGen gnomAD |
|
|
rs1270163632 CA401669261 |
64 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA401669265 rs1270163632 |
64 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1598460899 CA401669278 |
65 | Y>F | No |
ClinGen Ensembl |
|
|
CA8867716 rs752269816 |
66 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1386139292 CA401669585 |
71 | F>L | No |
ClinGen gnomAD |
|
|
rs998190755 CA295418116 |
72 | P>L | No |
ClinGen TOPMed |
|
|
rs139713318 CA8867797 |
78 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401669623 rs1338576592 |
78 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA401669655 rs1449621034 |
82 | K>N | No |
ClinGen gnomAD |
|
|
CA295418174 rs954740566 |
82 | K>T | No |
ClinGen Ensembl |
|
|
rs1182954109 CA401669686 |
87 | E>A | No |
ClinGen TOPMed |
|
|
CA401669690 rs1459906556 |
87 | E>D | No |
ClinGen TOPMed |
|
|
CA401669703 rs1258120815 |
90 | W>R | No |
ClinGen TOPMed |
|
|
rs1200567277 CA401669715 |
91 | F>Y | No |
ClinGen TOPMed |
|
|
CA401669859 rs1432195599 |
95 | S>C | No |
ClinGen gnomAD |
|
|
rs59755869 CA8867817 |
100 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761906575 CA8867820 |
106 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1198531715 CA401670139 |
111 | A>S | No |
ClinGen TOPMed |
|
|
CA401670191 rs1255400378 |
116 | D>G | No |
ClinGen TOPMed |
|
|
rs11540152 CA295420473 |
117 | F>L | No |
ClinGen Ensembl |
|
|
rs1464510968 CA401670220 |
120 | S>N | No |
ClinGen gnomAD |
|
|
CA401670230 rs1250166783 |
122 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 123 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1598464504 CA401670253 |
125 | T>N | No |
ClinGen Ensembl |
|
|
rs1197981170 CA401670258 |
126 | R>K | No |
ClinGen gnomAD |
|
|
rs1057376810 CA295420519 |
128 | E>G | No |
ClinGen TOPMed |
|
|
rs1386677048 CA401670282 |
129 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA401670306 rs1598464536 |
133 | P>A | No |
ClinGen Ensembl |
|
|
CA401670310 rs1567987421 |
133 | P>L | No |
ClinGen Ensembl |
|
|
CA8867827 rs201415512 |
134 | V>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8867828 rs751072286 |
136 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA401670362 rs550446568 |
141 | H>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8867829 rs550446568 |
141 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1323389786 CA401670375 |
142 | F>L | No |
ClinGen gnomAD |
|
|
CA401670379 rs1329714595 |
143 | G>E | No |
ClinGen gnomAD |
|
|
rs780803284 CA8867830 |
146 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200442141 CA8867831 |
147 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1329031476 CA401670412 |
148 | D>A | No |
ClinGen gnomAD |
|
|
CA8867832 rs756138720 |
148 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1329031476 CA401670413 |
148 | D>G | No |
ClinGen gnomAD |
|
|
CA295420617 rs940952547 |
149 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1351759366 CA401670420 |
149 | M>K | No |
ClinGen gnomAD |
|
|
CA8867833 rs779644557 COSM1523497 |
149 | M>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs376793375 CA8867836 |
150 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8867834 rs749119392 |
150 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA8867835 rs749119392 |
150 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1025008996 CA295420658 |
151 | S>A | No |
ClinGen gnomAD |
|
|
rs1255807993 CA401670463 |
154 | S>A | No |
ClinGen TOPMed |
|
|
rs596909 CA295425221 |
157 | G>V | No |
ClinGen Ensembl |
|
|
CA8867859 rs773099801 |
162 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA401670522 rs1300447329 |
163 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 163 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747127849 CA8867860 |
164 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs771296240 CA8867861 COSM1726448 |
165 | I>T | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs777163457 CA8867862 |
166 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs11540153 CA295425236 |
167 | T>I | No |
ClinGen Ensembl |
|
|
CA401670550 rs11540153 |
167 | T>N | No |
ClinGen Ensembl |
|
|
CA401670560 rs1385336277 |
169 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA8867863 rs147052596 |
170 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401670579 rs1296735999 |
171 | N>K | No |
ClinGen TOPMed |
|
|
CA401670592 rs770269195 |
173 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8867865 rs776063973 |
174 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs761487013 CA8867866 |
176 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767209304 CA8867867 |
176 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401670611 rs761487013 |
176 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401670618 rs1453521294 |
177 | I>T | No |
ClinGen TOPMed |
|
|
rs1244429666 CA401670644 |
181 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs760265884 CA8867869 |
183 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs753757524 CA8867871 |
185 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 187 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401658342 rs1442205470 |
190 | M>T | No |
ClinGen TOPMed |
|
|
CA8867892 rs376500183 COSM1611375 |
191 | A>V | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 192 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1324146404 CA401658432 |
195 | C>S | No |
ClinGen gnomAD |
|
|
rs746052476 CA295393307 |
202 | Y>C | No |
ClinGen Ensembl |
|
|
rs1019504442 CA295393318 |
211 | Q>H | No |
ClinGen TOPMed |
|
|
CA8867896 rs373096647 |
211 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201232749 CA295393338 |
216 | S>L | No |
ClinGen gnomAD |
|
|
rs201232749 CA401658851 |
216 | S>W | No |
ClinGen gnomAD |
|
|
rs1598479109 CA401658909 |
219 | M>I | No |
ClinGen Ensembl |
|
|
rs764943124 CA295393346 |
221 | L>F | No |
ClinGen gnomAD |
|
|
CA401658961 rs1396826934 |
222 | G>S | No |
ClinGen TOPMed |
|
|
rs745957549 CA8867901 |
227 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1162827398 CA401659346 |
227 | I>V | No |
ClinGen TOPMed |
|
|
CA401659360 rs559346114 |
228 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8867902 rs559346114 |
228 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401659367 rs1369690699 |
229 | S>C | No |
ClinGen TOPMed |
|
|
rs772325743 CA295393355 |
229 | S>N | No |
ClinGen TOPMed |
|
|
CA401659372 rs772325743 |
229 | S>T | No |
ClinGen TOPMed |
|
|
rs1304708715 CA401659397 |
231 | A>T | No |
ClinGen gnomAD |
|
|
CA401659439 rs1374898824 |
235 | Y>F | No |
ClinGen gnomAD |
|
|
rs1267313145 CA401659442 |
236 | M>L | No |
ClinGen TOPMed |
|
|
CA401659446 rs1245548601 |
236 | M>T | No |
ClinGen TOPMed |
|
|
rs1267313145 CA401659443 |
236 | M>V | No |
ClinGen TOPMed |
|
|
CA401659451 rs1223804477 |
237 | I>L | No |
ClinGen gnomAD |
|
|
rs959180600 CA295393384 |
237 | I>M | No |
ClinGen TOPMed |
|
|
CA295393387 rs866542441 |
238 | A>V | No |
ClinGen gnomAD |
|
|
rs1220777084 CA401659471 |
240 | I>V | No |
ClinGen gnomAD |
|
|
rs750248338 CA295393398 |
241 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA401659523 rs1448674651 |
246 | G>A | No |
ClinGen gnomAD |
|
|
CA401659522 rs1448674651 |
246 | G>D | No |
ClinGen gnomAD |
|
|
rs1350693342 CA401659598 |
257 | I>V | No |
ClinGen TOPMed |
|
|
rs1598481046 CA401659609 |
258 | Y>S | No |
ClinGen Ensembl |
|
|
CA8867939 rs143415597 |
262 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8867938 rs761730468 |
262 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs780321607 CA295393628 |
263 | E>K | No |
ClinGen gnomAD |
|
|
rs780321607 CA401659638 |
263 | E>Q | No |
ClinGen gnomAD |
|
|
rs1390986435 CA401659655 |
265 | L>R | No |
ClinGen TOPMed |
|
| rs766563822 | 268 | Q>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA295394076 rs1024764626 COSM1240594 |
271 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA401660074 rs1216783286 |
274 | R>K | No |
ClinGen Ensembl |
|
|
CA295394078 rs970583280 |
278 | K>N | No |
ClinGen TOPMed |
|
|
CA401660137 rs1467164009 |
279 | L>V | No |
ClinGen TOPMed |
|
|
rs751931801 CA8867967 |
281 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 283 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779604534 CA8867969 |
285 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA8867970 rs369187265 |
286 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA401660248 rs1328401362 |
287 | K>T | No |
ClinGen TOPMed |
|
|
CA8867972 rs778541361 |
288 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs748095422 CA8867973 |
289 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8867974 rs375413487 |
293 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771147687 CA8867977 |
298 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA295394101 rs765591852 |
299 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs776689763 CA8867978 |
302 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA8867979 rs759853185 |
303 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1442195189 CA401660466 |
304 | H>Y | No |
ClinGen TOPMed |
|
|
CA8867981 rs752774827 |
305 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 307 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8867982 rs763389486 |
310 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs764603167 CA8867983 |
311 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567998376 CA401660571 |
311 | M>T | No |
ClinGen Ensembl |
|
|
CA401660587 rs1289319018 |
312 | A>V | No |
ClinGen gnomAD |
|
|
rs1598485906 CA401660596 |
313 | V>G | No |
ClinGen Ensembl |
|
|
rs751880836 CA8867984 |
313 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401660602 rs1598485915 |
314 | V>L | No |
ClinGen Ensembl |
No associated diseases with P04818
Functions
| Description | ||
|---|---|---|
| EC Number | 2.1.1.45 | Methyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
7 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. |
| mitochondrial inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. |
| mitochondrial matrix | The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| folic acid binding | Binding to folic acid, pteroylglutamic acid. Folic acid is widely distributed as a member of the vitamin B complex and is essential for the synthesis of purine and pyrimidines. |
| mRNA regulatory element binding translation repressor activity | Antagonizes the ribosome-mediated translation of mRNA into a polypeptide via direct binding (through a selective and non-covalent interaction) to nucleic acid. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| sequence-specific mRNA binding | Binding to messenger RNA (mRNA) of a specific nucleotide composition or a specific sequence motif. |
| thymidylate synthase activity | Catalysis of the reaction: 5,10-methylenetetrahydrofolate + dUMP = 7,8-dihydrofolate + thymidylate. |
22 GO annotations of biological process
| Name | Definition |
|---|---|
| aging | A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700). |
| cartilage development | The process whose specific outcome is the progression of a cartilage element over time, from its formation to the mature structure. Cartilage elements are skeletal elements that consist of connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate. |
| circadian rhythm | Any biological process in an organism that recurs with a regularity of approximately 24 hours. |
| developmental growth | The increase in size or mass of an entire organism, a part of an organism or a cell, where the increase in size or mass has the specific outcome of the progression of the organism over time from one condition to another. |
| DNA biosynthetic process | The biosynthetic process resulting in the formation of DNA. |
| dTMP biosynthetic process | The chemical reactions and pathways resulting in the formation of dTMP, deoxyribosylthymine monophosphate (2'-deoxyribosylthymine 5'-phosphate). |
| dTTP biosynthetic process | The chemical reactions and pathways resulting in the formation of dTTP, deoxyribosylthymine triphosphate. |
| intestinal epithelial cell maturation | The developmental process, independent of morphogenetic (shape) change, that is required for a columna/cuboidal epithelial cell of the intestine to attain its fully functional state. A columnar/cuboidal epithelial cell of the intestine mature as they migrate from the intestinal crypt to the villus. |
| liver regeneration | The regrowth of lost or destroyed liver. |
| methylation | The process in which a methyl group is covalently attached to a molecule. |
| negative regulation of translation | Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. |
| response to cytokine | 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 cytokine stimulus. |
| response to ethanol | 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 an ethanol stimulus. |
| response to folic acid | 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 folic acid stimulus. |
| response to glucocorticoid | 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 glucocorticoid stimulus. Glucocorticoids are hormonal C21 corticosteroids synthesized from cholesterol with the ability to bind with the cortisol receptor and trigger similar effects. Glucocorticoids act primarily on carbohydrate and protein metabolism, and have anti-inflammatory effects. |
| response to organophosphorus | 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 an organophosphorus stimulus. Organophosphorus is a compound containing phosphorus bound to an organic molecule; several organophosphorus compounds are used as insecticides, and they are highly toxic cholinesterase inhibitors. |
| response to progesterone | 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 progesterone stimulus. |
| response to toxic substance | 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 toxic stimulus. |
| response to vitamin A | 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 vitamin A stimulus. |
| 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. |
| tetrahydrofolate interconversion | The chemical reactions and pathways by which one-carbon (C1) units are transferred between tetrahydrofolate molecules, to synthesise other tetrahydrofolate molecules. |
| uracil metabolic process | The chemical reactions and pathways involving uracil, 2,4-dioxopyrimidine, one of the pyrimidine bases occurring in RNA, but not in DNA. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O76511 | Ts | Thymidylate synthase | Drosophila melanogaster (Fruit fly) | PR |
| O81395 | DRTS | Bifunctional dihydrofolate reductase-thymidylate synthase | Zea mays (Maize) | PR |
| P07607 | Tyms | Thymidylate synthase | Mus musculus (Mouse) | PR |
| P45352 | Tyms | Thymidylate synthase | Rattus norvegicus (Rat) | PR |
| Q05763 | THY-2 | Bifunctional dihydrofolate reductase-thymidylate synthase 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPVAGSELPR | RPLPPAAQER | DAEPRPPHGE | LQYLGQIQHI | LRCGVRKDDR | TGTGTLSVFG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| MQARYSLRDE | FPLLTTKRVF | WKGVLEELLW | FIKGSTNAKE | LSSKGVKIWD | ANGSRDFLDS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LGFSTREEGD | LGPVYGFQWR | HFGAEYRDME | SDYSGQGVDQ | LQRVIDTIKT | NPDDRRIIMC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AWNPRDLPLM | ALPPCHALCQ | FYVVNSELSC | QLYQRSGDMG | LGVPFNIASY | ALLTYMIAHI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TGLKPGDFIH | TLGDAHIYLN | HIEPLKIQLQ | REPRPFPKLR | ILRKVEKIDD | FKAEDFQIEG |
| 310 | |||||
| YNPHPTIKME | MAV |