P28324
EV
Gene name |
ELK4 (SAP1) |
Protein name |
ETS domain-containing protein Elk-4 |
Names |
Serum response factor accessory protein 1, SAP-1, SRF accessory protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2005 |
EC number |
|
Protein Class |
ETS (PTHR11849) |
Descriptions
ELK4 (SAP-1a) belongs to a subfamily of ETS domain transcription factors. Its characteristic property is the ability to form a ternary nucleoprotein complex with the serum response factor (SRF) over the serum response element (SRE) of the c-fos promoter. NID domain and B-box inhibit the binding of ELK4 to DNA.
Autoinhibitory domains (AIDs)
Target domain |
1-92 (Ets DNA-binding domain) |
Relief mechanism |
PTM |
Assay |
Deletion assay, Mutagenesis experiment, Structural analysis |
Target domain |
1-92 (Ets DNA-binding domain) |
Relief mechanism |
PTM |
Assay |
Deletion assay, Mutagenesis experiment, Structural analysis |
Accessory elements
No accessory elements
References
- Buchwalter G et al. (2004) "Ets ternary complex transcription factors", Gene, 324, 1-14
- Shore P et al. (1996) "Determinants of DNA-binding specificity of ETS-domain transcription factors", Molecular and cellular biology, 16, 3338-49
- Dalton S et al. (1992) "Characterization of SAP-1, a protein recruited by serum response factor to the c-fos serum response element", Cell, 68, 597-612
- Hassler M et al. (2001) "The B-box dominates SAP-1-SRF interactions in the structure of the ternary complex", The EMBO journal, 20, 3018-28
Autoinhibited structure
Activated structure
5 structures for P28324
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1BC7 | X-ray | 201 A | C | 1-93 | PDB |
| 1BC8 | X-ray | 193 A | C | 1-93 | PDB |
| 1HBX | X-ray | 315 A | G/H | 2-156 | PDB |
| 1K6O | X-ray | 319 A | A | 1-93 | PDB |
| AF-P28324-F1 | Predicted | AlphaFoldDB |
308 variants for P28324
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1473534811 CA344436614 |
2 | D>E | No |
ClinGen TOPMed |
|
|
CA1356222 rs751194905 |
2 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs146371497 CA36474776 |
3 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146371497 CA1356221 |
3 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1356220 rs758131235 |
3 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1212068029 CA344436606 |
4 | A>T | No |
ClinGen gnomAD |
|
|
rs138936782 CA1356218 |
5 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1356217 rs760014099 |
6 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs777145824 CA1356216 |
7 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA36474758 rs924465349 |
8 | W>C | No |
ClinGen TOPMed |
|
|
rs766689095 CA1356215 |
9 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1312545440 CA344436578 |
9 | Q>K | No |
ClinGen gnomAD |
|
|
CA344436555 rs1382806549 |
12 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA1356213 rs147053192 |
13 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1356212 rs139169305 |
16 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA36474731 rs912514616 |
18 | P>L | No |
ClinGen TOPMed |
|
|
CA36474721 rs1048333532 |
19 | Q>* | No |
ClinGen TOPMed |
|
|
rs1329941953 CA344436510 |
19 | Q>R | No |
ClinGen gnomAD |
|
|
CA36474708 rs986860253 |
20 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs748466450 CA1356211 |
22 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs774261284 CA1356210 |
22 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA344436489 rs748466450 |
22 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs370703435 CA1356209 |
23 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344436475 rs1445483376 |
24 | I>V | No |
ClinGen gnomAD |
|
|
rs781283328 CA1356207 |
25 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA344436445 rs1479603881 |
28 | S>A | No |
ClinGen gnomAD |
|
|
rs1307205309 CA344436442 |
28 | S>F | No |
ClinGen TOPMed |
|
|
rs149095787 CA1356206 |
29 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1205601092 CA344436430 |
30 | D>G | No |
ClinGen gnomAD |
|
|
rs1289334360 CA344436418 |
32 | Q>* | No |
ClinGen gnomAD |
|
|
rs777694033 CA1356204 |
32 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs567819535 CA36474646 |
34 | K>N | No |
ClinGen Ensembl |
|
|
CA1356203 rs757958948 |
34 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1356202 rs150376325 |
34 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778238169 CA1356201 |
35 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA344436358 rs1220205577 |
41 | V>M | No |
ClinGen TOPMed |
|
|
CA36474636 rs761014862 |
43 | R>H | No |
ClinGen gnomAD |
|
|
CA344436335 rs1412049306 |
45 | W>R | No |
ClinGen gnomAD |
|
|
CA1356200 rs754513807 |
47 | I>F | No |
ClinGen ExAC TOPMed |
|
|
rs374721946 CA36474619 |
47 | I>S | No |
ClinGen Ensembl |
|
|
CA1356199 rs376312178 |
48 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344436314 rs376312178 |
48 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1356198 rs531546747 |
48 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA344436312 rs531546747 |
48 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1425483123 CA344436286 |
52 | P>A | No |
ClinGen gnomAD |
|
|
rs1351884629 CA344436284 |
52 | P>H | No |
ClinGen gnomAD |
|
|
CA344436273 rs1170458027 |
54 | M>V | No |
ClinGen TOPMed |
|
|
CA1356197 rs761228045 |
61 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA344436172 rs1473532386 |
67 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA344436176 rs1182736778 |
67 | Y>C | No |
ClinGen gnomAD |
|
|
CA344436171 rs1300871568 |
68 | V>I | No |
ClinGen gnomAD |
|
|
rs1234400813 CA344435945 |
70 | N>S | No |
ClinGen gnomAD |
|
|
CA36472736 rs761930402 |
71 | I>V | No |
ClinGen Ensembl |
|
|
CA1356164 rs775683837 |
72 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1269827860 CA344435898 |
73 | K>I | No |
ClinGen gnomAD |
|
|
rs1366232764 CA344435834 |
78 | Q>L | No |
ClinGen gnomAD |
|
|
rs1403815176 CA344435800 |
83 | K>E | No |
ClinGen gnomAD |
|
|
rs1175691641 CA344435798 |
83 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
CA36472730 rs1017788079 |
85 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1017788079 CA344435778 |
85 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1350494840 CA344435708 |
88 | P>A | No |
ClinGen TOPMed |
|
|
rs1006443763 CA36472715 |
89 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs760483350 CA1356162 |
90 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776615952 CA36472703 |
92 | N>I | No |
ClinGen gnomAD |
|
|
rs1189934180 CA344435622 |
93 | M>I | No |
ClinGen gnomAD |
|
|
CA344435616 rs1206670263 |
94 | D>H | No |
ClinGen TOPMed |
|
|
CA344435594 rs1251185713 |
95 | P>L | No |
ClinGen TOPMed |
|
|
CA1356160 rs771696782 |
96 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1356158 rs778738301 |
97 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs747986207 CA1356159 |
97 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344435542 rs1403892489 |
101 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA528781323 rs1227223028 |
105 | C>* | No |
ClinGen gnomAD |
|
|
CA344435510 rs1165962580 |
105 | C>S | No |
ClinGen TOPMed |
|
|
rs1418300694 CA344435494 |
106 | E>Q | No |
ClinGen TOPMed |
|
|
CA1356156 rs142399517 |
110 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA36472688 rs113173768 |
113 | V>A | No |
ClinGen Ensembl |
|
|
rs1382052163 CA344435328 |
119 | D>N | No |
ClinGen gnomAD |
|
|
rs755642087 CA1356154 |
120 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA344435313 rs1396496255 |
121 | E>A | No |
ClinGen gnomAD |
|
|
rs1396496255 CA344435312 |
121 | E>G | No |
ClinGen gnomAD |
|
|
CA36472677 rs964100947 |
121 | E>K | No |
ClinGen Ensembl |
|
|
rs1404326705 CA344435307 |
122 | N>Y | No |
ClinGen gnomAD |
|
|
CA36472659 rs145878431 |
123 | G>R | No |
ClinGen 1000Genomes gnomAD |
|
|
CA1356152 rs781730859 |
124 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA36472637 rs751730094 |
126 | D>E | No |
ClinGen Ensembl |
|
|
rs1170030422 CA344435278 |
126 | D>G | No |
ClinGen gnomAD |
|
|
rs1391633158 CA344435281 |
126 | D>N | No |
ClinGen TOPMed |
|
|
rs139238464 CA1356151 |
127 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344435270 rs1571499680 |
127 | K>N | No |
ClinGen Ensembl |
|
|
rs186491224 CA1356149 |
129 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1225643059 CA344435247 |
131 | P>S | No |
ClinGen TOPMed |
|
|
rs1571499655 CA344435223 |
135 | T>P | No |
ClinGen Ensembl |
|
|
CA1356148 rs758673354 |
136 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs143034780 CA1356146 |
138 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344435203 rs143034780 |
138 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1356145 rs759667404 |
138 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA1356143 rs767475005 |
139 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs774100312 CA1356141 |
139 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA1356142 rs761723626 |
139 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA36472619 rs770564510 |
141 | Y>C | No |
ClinGen Ensembl |
|
|
CA344435179 rs768486073 |
142 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1356140 rs768486073 |
142 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344435168 rs1342188947 |
143 | H>Q | No |
ClinGen gnomAD |
|
|
rs574160301 CA36472612 |
143 | H>R | No |
ClinGen Ensembl |
|
|
rs1168382670 CA344435172 |
143 | H>Y | No |
ClinGen gnomAD |
|
|
CA36472604 rs760531458 |
148 | S>F | No |
ClinGen gnomAD |
|
|
rs1304858326 CA344435140 |
148 | S>T | No |
ClinGen gnomAD |
|
|
CA1356138 rs748886097 |
158 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1008351135 CA344435072 |
158 | S>C | No |
ClinGen gnomAD |
|
|
CA36472593 rs1008351135 |
158 | S>F | No |
ClinGen gnomAD |
|
|
CA1356137 rs369067229 |
159 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344435044 rs1453287458 |
162 | L>P | No |
ClinGen TOPMed |
|
|
CA344435034 rs1473534357 |
164 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs879007283 CA36472582 |
164 | K>R | No |
ClinGen Ensembl |
|
|
CA1356135 rs745374106 |
166 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA1356133 rs757755425 |
169 | E>A | No |
ClinGen ExAC |
|
|
CA1356132 rs199770695 |
169 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1473207702 CA344434999 |
169 | E>K | No |
ClinGen gnomAD |
|
|
rs1175980684 CA344434982 |
171 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs778235166 CA1356131 |
172 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1356129 rs752901823 |
173 | E>K | No |
ClinGen ExAC TOPMed |
|
|
CA344434969 rs1379579383 |
174 | K>Q | No |
ClinGen gnomAD |
|
|
rs201659900 CA36472571 |
175 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs765568892 CA1356128 |
176 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344434957 rs765568892 |
176 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1571499462 CA344434931 |
179 | K>I | No |
ClinGen Ensembl |
|
|
rs755210267 CA1356127 |
179 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA344434928 rs1437582585 |
180 | S>P | No |
ClinGen gnomAD |
|
|
CA1356126 rs753947037 |
181 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA1356124 rs766408995 |
184 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1356122 rs774290171 |
188 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1251908927 CA344434865 |
190 | K>Q | No |
ClinGen gnomAD |
|
|
COSM463821 CA1356121 rs763834169 COSM463822 |
190 | K>R | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs763834169 CA344434864 |
190 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1356120 rs762738051 |
193 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA1356118 rs148037437 |
200 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344434793 rs1275091125 |
201 | V>A | No |
ClinGen TOPMed |
|
|
CA344434785 rs1571499339 |
202 | E>D | No |
ClinGen Ensembl |
|
|
CA1356116 rs759519297 |
202 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1356115 rs770370578 |
203 | P>A | No |
ClinGen ExAC |
|
|
CA36472533 rs904890024 |
204 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1356111 rs530184062 |
210 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs949099639 CA36472523 |
212 | P>L | No |
ClinGen Ensembl |
|
|
rs771726214 CA344434724 |
213 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA36472518 rs771726214 |
213 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1356110 rs779209848 |
213 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA1356108 rs754056060 |
214 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1356109 rs368269938 |
214 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1356107 rs377088845 |
215 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756175640 CA1356106 |
216 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs372605541 CA36472503 |
217 | S>F | No |
ClinGen ESP TOPMed |
|
|
rs751428787 CA1356105 |
218 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1324346361 CA344434685 |
220 | E>K | No |
ClinGen gnomAD |
|
|
rs1311476309 CA344434670 |
222 | I>F | No |
ClinGen TOPMed |
|
|
CA344434660 rs1391453342 |
223 | Q>R | No |
ClinGen gnomAD |
|
|
CA1356100 rs759182674 |
227 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1174697284 CA344434625 |
228 | L>F | No |
ClinGen gnomAD |
|
|
rs561206376 CA36472476 |
229 | V>G | No |
ClinGen 1000Genomes |
|
|
rs776180014 CA344434623 |
229 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776180014 CA1356099 |
229 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772913268 CA1356096 |
231 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344434613 rs760278373 |
231 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1356097 rs760278373 |
231 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344434600 rs1218474105 |
233 | L>P | No |
ClinGen TOPMed |
|
|
CA344434596 rs1241376796 |
234 | P>A | No |
ClinGen gnomAD |
|
|
CA1356095 rs368577329 |
235 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs952375083 CA36472423 |
238 | A>S | No |
ClinGen TOPMed |
|
|
rs749483621 CA1356091 |
239 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs780141583 CA1356090 |
240 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs146453123 CA1356089 |
240 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1366655815 CA344434552 |
242 | A>P | No |
ClinGen gnomAD |
|
|
rs750500557 CA1356088 |
242 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs781292071 CA1356087 |
245 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA36472394 rs534588794 |
246 | M>T | No |
ClinGen Ensembl |
|
|
rs758313739 CA1356086 |
246 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752658016 CA1356085 |
247 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759255102 CA1356083 |
249 | F>L | No |
ClinGen ExAC |
|
|
rs1383418181 CA344434497 |
251 | T>A | No |
ClinGen gnomAD |
|
|
rs1181377162 CA344434489 |
252 | T>I | No |
ClinGen gnomAD |
|
|
rs1238023407 CA344434484 COSM3376950 COSM3376949 |
253 | P>S | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA344434479 rs1211954609 |
254 | P>A | No |
ClinGen gnomAD |
|
|
rs1172368228 CA344434472 |
255 | I>V | No |
ClinGen TOPMed |
|
|
CA36472380 COSM3400233 rs747854041 COSM3400232 |
256 | S>L | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA1356080 rs760468788 |
258 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA344434447 rs1312248985 |
259 | P>R | No |
ClinGen gnomAD |
|
|
CA36472373 rs955420352 |
259 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs955420352 CA36472370 |
259 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs142937236 CA1356078 |
260 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344434444 rs1558021170 |
260 | P>H | No |
ClinGen Ensembl |
|
|
rs142937236 CA344434445 |
260 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142937236 CA1356077 |
260 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1286528152 CA344434431 |
262 | Q>R | No |
ClinGen gnomAD |
|
|
CA1356076 rs774746730 |
263 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA344434419 rs1309056277 |
264 | P>T | No |
ClinGen gnomAD |
|
|
rs1043522762 CA36472354 |
265 | P>L | No |
ClinGen TOPMed |
|
|
rs961941768 CA1356073 |
266 | R>G | No |
ClinGen TOPMed |
|
|
rs749625602 CA344434404 |
266 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1356069 rs140713422 |
267 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1016585758 CA36472321 |
270 | P>L | No |
ClinGen Ensembl |
|
|
CA344434377 rs1471586681 |
271 | P>Q | No |
ClinGen gnomAD |
|
|
rs1257337780 CA344434378 |
271 | P>T | No |
ClinGen TOPMed |
|
|
rs757362874 CA1356064 |
273 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA344434345 rs1458755945 |
276 | P>R | No |
ClinGen TOPMed |
|
|
CA36472278 rs201588267 |
276 | P>T | No |
ClinGen 1000Genomes gnomAD |
|
|
CA344434334 rs1220167484 |
278 | I>V | No |
ClinGen gnomAD |
|
|
rs1227057276 CA344434326 |
279 | D>A | No |
ClinGen gnomAD |
|
|
CA1356061 rs755002498 |
279 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1356059 rs766315689 |
280 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA344434305 rs1412111277 |
281 | D>Y | No |
ClinGen gnomAD |
|
|
rs755805365 CA1356058 |
282 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs750123304 CA1356057 |
284 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1349688310 CA344434253 |
285 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1349688310 CA344434251 |
285 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1356054 rs774860570 |
286 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs763557873 CA1356052 |
287 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA1356053 rs764492506 |
287 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1242037581 CA344434224 |
288 | Q>K | No |
ClinGen gnomAD |
|
|
rs1299013729 CA344434219 |
288 | Q>L | No |
ClinGen TOPMed |
|
|
CA36472178 rs61757373 |
289 | P>A | No |
ClinGen Ensembl |
|
|
CA1356051 rs149593454 |
289 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1356049 rs367842003 |
290 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1190208785 CA344434194 |
290 | M>K | No |
ClinGen gnomAD |
|
|
CA1356050 rs201988795 |
290 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1356048 rs776843292 |
292 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA1356047 rs191743893 |
293 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA344434162 rs1329045964 |
293 | P>S | No |
ClinGen gnomAD |
|
|
CA344434130 rs1230610111 |
295 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs777977224 CA1356045 |
300 | P>T | No |
ClinGen ExAC |
|
|
rs1303095116 CA344434060 |
301 | K>T | No |
ClinGen TOPMed |
|
|
rs1226223386 CA344434026 |
303 | Q>H | No |
ClinGen TOPMed |
|
|
rs1310740046 CA344434030 |
303 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1356042 rs779945477 |
307 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756004177 CA1356041 |
308 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs750025468 CA1356040 |
310 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344433935 rs1571498817 |
311 | D>N | No |
ClinGen Ensembl |
|
|
CA1356039 rs34515238 |
313 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA36472088 rs935496555 |
314 | N>D | No |
ClinGen Ensembl |
|
|
CA344433877 rs1458757493 |
315 | N>S | No |
ClinGen gnomAD |
|
|
rs1375684778 CA344433827 |
319 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1375684778 CA344433830 |
319 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1433390435 CA344433806 |
321 | K>R | No |
ClinGen gnomAD |
|
|
rs756989722 CA1356038 |
322 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA1356036 rs759155171 |
323 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759155171 CA1356037 |
323 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1558021033 CA344433767 |
324 | G>A | No |
ClinGen Ensembl |
|
|
rs776011436 CA1356034 |
326 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA1356033 rs765522712 |
328 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1356032 rs759907676 |
329 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200321599 CA36472053 |
330 | T>A | No |
ClinGen 1000Genomes |
|
|
CA1356031 rs777039386 |
334 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1423095487 CA344433652 |
335 | S>N | No |
ClinGen gnomAD |
|
|
CA1356030 rs771138616 |
336 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760999673 CA1356029 |
337 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs773142323 CA1356028 |
338 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1356027 rs772214680 |
342 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1365938777 CA344433568 |
343 | I>K | No |
ClinGen gnomAD |
|
|
CA1356026 rs749140638 |
343 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA344433572 rs1164333821 |
343 | I>V | No |
ClinGen TOPMed |
|
|
rs780140261 CA1356025 |
344 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs769651711 CA1356024 |
345 | S>N | No |
ClinGen ExAC TOPMed |
|
|
rs1466421386 CA344433535 |
346 | P>S | No |
ClinGen gnomAD |
|
|
rs1359598744 CA344433521 |
347 | S>C | No |
ClinGen TOPMed |
|
|
rs781197440 CA1356022 |
347 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA36472027 rs942927780 |
350 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs566091954 CA344433483 |
351 | A>D | No |
ClinGen 1000Genomes |
|
|
rs566091954 CA36472025 |
351 | A>V | No |
ClinGen 1000Genomes |
|
|
CA1356021 rs756839661 |
355 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs757529202 CA1355972 |
363 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757529202 CA344432522 |
363 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751863514 CA1355971 |
363 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA1355973 rs757529202 |
363 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1355970 rs764203338 |
364 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1571497604 CA344432506 |
366 | T>P | No |
ClinGen Ensembl |
|
|
rs1436431068 CA344432494 |
368 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1458182560 CA344432473 |
371 | L>F | No |
ClinGen TOPMed |
|
|
CA36471231 rs1056198077 |
372 | S>F | No |
ClinGen gnomAD |
|
|
CA344432462 rs1414314380 |
373 | S>R | No |
ClinGen gnomAD |
|
|
CA344432454 rs1403372494 |
374 | I>V | No |
ClinGen gnomAD |
|
|
CA36471227 rs923646142 |
380 | L>F | No |
ClinGen TOPMed |
|
|
CA36471213 rs185116728 |
384 | A>V | No |
ClinGen 1000Genomes gnomAD |
|
|
CA344432379 rs775491018 |
385 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA1355968 rs775491018 |
385 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA1355966 rs760573421 |
386 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA36471198 rs923864710 |
389 | A>V | No |
ClinGen Ensembl |
|
|
CA344432339 rs1185127321 |
392 | Q>* | No |
ClinGen gnomAD |
|
|
CA36471189 rs141799598 |
393 | G>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1247678893 CA344432319 |
395 | N>D | No |
ClinGen TOPMed |
|
|
rs1367516738 CA344432053 |
401 | P>L | No |
ClinGen TOPMed |
|
|
rs907947540 COSM902812 CA36469434 |
401 | P>T | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA1355948 rs750355713 |
402 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA344432030 rs1287169486 |
404 | L>V | No |
ClinGen gnomAD |
|
|
rs767228986 CA1355947 |
406 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1316096689 CA344431975 |
409 | P>S | No |
ClinGen TOPMed |
|
|
CA36469421 rs192312174 |
411 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs192312174 CA1355946 |
411 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA344431937 rs1489802494 |
413 | S>A | No |
ClinGen gnomAD |
|
|
CA344431862 rs1408456593 |
418 | P>A | No |
ClinGen gnomAD |
|
|
rs768293916 CA1355944 |
419 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA1355943 rs762553361 |
419 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA344431850 rs768293916 |
419 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs553523728 CA1355942 |
420 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1355941 rs769207543 |
420 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs553523728 CA344431840 |
420 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA36469395 rs930748666 |
422 | G>D | No |
ClinGen TOPMed |
|
|
CA36469377 rs867995036 |
425 | S>F | No |
ClinGen Ensembl |
|
|
CA344431673 rs781768393 |
427 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA36469349 rs781768393 |
427 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1355936 rs747374311 |
431 | T>A | No |
ClinGen ExAC gnomAD |
No associated diseases with P28324
1 regional properties for P28324
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Ets domain | 4 - 89 | IPR000418 |
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR11849 | ETS |
| PANTHER Subfamily | PTHR11849:SF21 | ETS DOMAIN-CONTAINING PROTEIN ELK-4 |
| PANTHER Protein Class |
DNA-binding transcription factor
helix-turn-helix transcription factor winged helix/forkhead transcription factor |
|
| PANTHER Pathway Category |
Interleukin signaling pathway ELK CCKR signaling map SAP1 PDGF signaling pathway ELK |
|
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| DNA-binding transcription activator activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II. |
| DNA-binding transcription factor activity | A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons. |
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
| sequence-specific double-stranded DNA binding | Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| histone H3 deacetylation | The modification of histone H3 by the removal of one or more acetyl groups. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
40 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A1A4L6 | ETS2 | Protein C-ets-2 | Bos taurus (Bovine) | SS |
| Q2KIC2 | ETV1 | ETS translocation variant 1 | Bos taurus (Bovine) | SS |
| P15062 | ETS1 | Transforming protein p68/c-ets-1 | Gallus gallus (Chicken) | SS |
| P10157 | ETS2 | Protein C-ets-2 | Gallus gallus (Chicken) | SS |
| Q90837 | ERG | Transcriptional regulator Erg | Gallus gallus (Chicken) | SS |
| A2T762 | ETV3 | ETS translocation variant 3 | Pan troglodytes (Chimpanzee) | PR |
| Q04688 | Ets97D | DNA-binding protein Ets97D | Drosophila melanogaster (Fruit fly) | PR |
| Q9Y603 | ETV7 | Transcription factor ETV7 | Homo sapiens (Human) | SS |
| P41212 | ETV6 | Transcription factor ETV6 | Homo sapiens (Human) | SS |
| P78545 | ELF3 | ETS-related transcription factor Elf-3 | Homo sapiens (Human) | SS |
| Q9UKW6 | ELF5 | ETS-related transcription factor Elf-5 | Homo sapiens (Human) | EV |
| P32519 | ELF1 | ETS-related transcription factor Elf-1 | Homo sapiens (Human) | PR |
| Q99607 | ELF4 | ETS-related transcription factor Elf-4 | Homo sapiens (Human) | PR |
| Q06546 | GABPA | GA-binding protein alpha chain | Homo sapiens (Human) | SS |
| O95238 | SPDEF | SAM pointed domain-containing Ets transcription factor | Homo sapiens (Human) | PR |
| P50548 | ERF | ETS domain-containing transcription factor ERF | Homo sapiens (Human) | PR |
| P41162 | ETV3 | ETS translocation variant 3 | Homo sapiens (Human) | PR |
| P11308 | ERG | Transcriptional regulator ERG | Homo sapiens (Human) | EV |
| P43268 | ETV4 | ETS translocation variant 4 | Homo sapiens (Human) | EV |
| P41161 | ETV5 | ETS translocation variant 5 | Homo sapiens (Human) | SS |
| P50549 | ETV1 | ETS translocation variant 1 | Homo sapiens (Human) | EV |
| P41970 | ELK3 | ETS domain-containing protein Elk-3 | Homo sapiens (Human) | SS |
| P19419 | ELK1 | ETS domain-containing protein Elk-1 | Homo sapiens (Human) | EV |
| P15036 | ETS2 | Protein C-ets-2 | Homo sapiens (Human) | EV |
| P14921 | ETS1 | Protein C-ets-1 | Homo sapiens (Human) | EV |
| Q00422 | Gabpa | GA-binding protein alpha chain | Mus musculus (Mouse) | EV |
| P28322 | Etv4 | ETS translocation variant 4 | Mus musculus (Mouse) | SS |
| P15037 | Ets2 | Protein C-ets-2 | Mus musculus (Mouse) | SS |
| P27577 | Ets1 | Protein C-ets-1 | Mus musculus (Mouse) | EV |
| P70459 | Erf | ETS domain-containing transcription factor ERF | Mus musculus (Mouse) | PR |
| Q9CXC9 | Etv5 | ETS translocation variant 5 | Mus musculus (Mouse) | SS |
| P41164 | Etv1 | ETS translocation variant 1 | Mus musculus (Mouse) | SS |
| P81270 | Erg | Transcriptional regulator ERG | Mus musculus (Mouse) | SS |
| P41969 | Elk1 | ETS domain-containing protein Elk-1 | Mus musculus (Mouse) | PR |
| P41971 | Elk3 | ETS domain-containing protein Elk-3 | Mus musculus (Mouse) | EV |
| P41158 | Elk4 | ETS domain-containing protein Elk-4 | Mus musculus (Mouse) | PR |
| P41156 | Ets1 | Protein C-ets-1 | Rattus norvegicus (Rat) | SS |
| A4GTP4 | Elk1 | ETS domain-containing protein Elk-1 | Rattus norvegicus (Rat) | PR |
| Q9PUQ1 | etv4 | ETS translocation variant 4 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| A3FEM2 | fev | Protein FEV | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDSAITLWQF | LLQLLQKPQN | KHMICWTSND | GQFKLLQAEE | VARLWGIRKN | KPNMNYDKLS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RALRYYYVKN | IIKKVNGQKF | VYKFVSYPEI | LNMDPMTVGR | IEGDCESLNF | SEVSSSSKDV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ENGGKDKPPQ | PGAKTSSRND | YIHSGLYSSF | TLNSLNSSNV | KLFKLIKTEN | PAEKLAEKKS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PQEPTPSVIK | FVTTPSKKPP | VEPVAATISI | GPSISPSSEE | TIQALETLVS | PKLPSLEAPT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SASNVMTAFA | TTPPISSIPP | LQEPPRTPSP | PLSSHPDIDT | DIDSVASQPM | ELPENLSLEP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KDQDSVLLEK | DKVNNSSRSK | KPKGLELAPT | LVITSSDPSP | LGILSPSLPT | ASLTPAFFSQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TPIILTPSPL | LSSIHFWSTL | SPVAPLSPAR | LQGANTLFQF | PSVLNSHGPF | TLSGLDGPST |
| 430 | |||||
| PGPFSPDLQK | T |