Q9H074
Gene name |
PAIP1 |
Protein name |
Polyadenylate-binding protein-interacting protein 1 |
Names |
PABP-interacting protein 1, PAIP-1, Poly(A)-binding protein-interacting protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10605 |
EC number |
|
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 Q9H074
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
1JH4 | NMR | - | B | 123-144 | PDB |
3NTW | X-ray | 260 A | B/D | 123-144 | PDB |
3RK6 | X-ray | 200 A | A/B | 157-373 | PDB |
6YXJ | X-ray | 350 A | B | 157-375 | PDB |
AF-Q9H074-F1 | Predicted | AlphaFoldDB |
336 variants for Q9H074
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA3257581 rs566674929 |
2 | S>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA359665834 rs988094289 |
3 | D>E | No |
ClinGen TOPMed gnomAD |
|
rs1342768887 CA359665838 |
3 | D>G | No |
ClinGen TOPMed |
|
rs1430919939 CA359665828 |
4 | G>C | No |
ClinGen TOPMed gnomAD |
|
rs1430919939 CA359665830 |
4 | G>R | No |
ClinGen TOPMed gnomAD |
|
CA117932913 rs1028926898 |
6 | D>H | No |
ClinGen TOPMed |
|
CA359665806 rs1028926898 |
6 | D>N | No |
ClinGen TOPMed |
|
CA359665797 rs74693632 |
7 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA117932905 rs931505645 |
8 | A>D | No |
ClinGen TOPMed |
|
CA117932906 rs1048625328 |
8 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA117932904 rs931505645 |
8 | A>V | No |
ClinGen TOPMed |
|
CA359665782 rs1162800470 |
9 | P>T | No |
ClinGen TOPMed gnomAD |
|
rs1391714812 CA359665755 |
10 | G>S | No |
ClinGen gnomAD |
|
rs1186907599 CA359665732 |
11 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA359665730 rs1486311166 |
12 | G>S | No |
ClinGen gnomAD |
|
rs1376294353 CA359665719 |
13 | R>Q | No |
ClinGen TOPMed |
|
CA117932879 rs972838868 |
15 | R>G | No |
ClinGen gnomAD |
|
CA117932878 rs970460707 |
15 | R>Q | No |
ClinGen TOPMed |
|
CA359665702 rs972838868 |
15 | R>W | No |
ClinGen gnomAD |
|
rs1292614689 CA359665695 |
16 | S>C | No |
ClinGen gnomAD |
|
rs1456090989 CA359665693 |
16 | S>N | No |
ClinGen TOPMed |
|
rs775224454 CA3257577 |
17 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3257578 rs368538352 |
17 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs769283075 CA117932867 |
18 | G>D | No |
ClinGen ExAC gnomAD |
|
rs769283075 CA3257576 |
18 | G>V | No |
ClinGen ExAC gnomAD |
|
CA359665675 rs1357390834 |
19 | L>M | No |
ClinGen gnomAD |
|
rs895596832 CA117932862 |
20 | G>S | No |
ClinGen TOPMed gnomAD |
|
rs1294179842 CA359665657 |
21 | R>C | No |
ClinGen gnomAD |
|
rs1365618324 CA359665655 |
21 | R>H | No |
ClinGen gnomAD |
|
rs1294179842 CA359665660 |
21 | R>S | No |
ClinGen gnomAD |
|
CA3257575 rs747434396 |
23 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1301994523 CA359665642 |
23 | G>R | No |
ClinGen gnomAD |
|
rs1275191945 CA359665624 |
24 | G>V | No |
ClinGen TOPMed |
|
CA359665621 rs1372397633 |
25 | G>R | No |
ClinGen TOPMed gnomAD |
|
rs1170876904 CA359665607 |
26 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA359665613 rs1579933853 |
26 | P>T | No |
ClinGen Ensembl |
|
CA117932824 rs905552801 |
27 | E>K | No |
ClinGen TOPMed |
|
CA359665589 rs1427749729 |
28 | G>D | No |
ClinGen gnomAD |
|
rs1265612116 CA359665595 |
28 | G>S | No |
ClinGen TOPMed |
|
rs1184950507 CA359665585 |
29 | G>S | No |
ClinGen gnomAD |
|
rs947155577 CA117932808 |
30 | G>S | No |
ClinGen TOPMed |
|
CA359665553 rs1410819960 |
32 | P>L | No |
ClinGen gnomAD |
|
CA117932806 rs1032703598 |
32 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA359665536 rs1390686316 |
34 | G>R | No |
ClinGen gnomAD |
|
CA359665526 rs1471914791 |
35 | A>P | No |
ClinGen TOPMed |
|
rs1158989982 CA359665520 |
35 | A>V | No |
ClinGen TOPMed |
|
rs1489999072 CA359665503 |
37 | P>L | No |
ClinGen gnomAD |
|
rs912983908 CA359665497 |
38 | A>P | No |
ClinGen TOPMed gnomAD |
|
rs912983908 CA117932803 |
38 | A>S | No |
ClinGen TOPMed gnomAD |
|
rs1052815812 CA117932794 |
39 | E>A | No |
ClinGen TOPMed gnomAD |
|
CA3257574 rs550677463 |
40 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1385858763 CA359665468 |
41 | A>V | No |
ClinGen TOPMed |
|
rs571448156 CA359665447 |
43 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA3257572 rs748648834 |
43 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1287709801 CA359665441 |
44 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA359665433 rs1402636760 |
44 | Q>H | No |
ClinGen gnomAD |
|
CA117932758 rs1020794727 |
45 | P>Q | No |
ClinGen Ensembl |
|
rs1263734925 CA359665402 |
47 | Q>H | No |
ClinGen TOPMed |
|
CA117932747 rs997321863 |
48 | P>L | No |
ClinGen gnomAD |
|
CA359665391 rs1210618464 |
49 | K>E | No |
ClinGen TOPMed |
|
CA359665376 rs1482245240 |
50 | A>D | No |
ClinGen TOPMed |
|
rs1482245240 CA359665373 |
50 | A>V | No |
ClinGen TOPMed |
|
CA117932746 rs562875256 |
51 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA117932735 rs953738506 |
52 | G>S | No |
ClinGen TOPMed gnomAD |
|
CA117932729 rs1019690700 |
53 | F>L | No |
ClinGen Ensembl |
|
rs921963831 CA117932728 |
53 | F>L | No |
ClinGen TOPMed |
|
CA359665264 rs1579933677 |
57 | P>Q | No |
ClinGen Ensembl |
|
CA359665267 rs1160724489 |
57 | P>S | No |
ClinGen TOPMed |
|
CA359665251 rs1561241131 |
58 | P>L | No |
ClinGen Ensembl |
|
CA359665220 rs1006923335 |
61 | Q>H | No |
ClinGen TOPMed gnomAD |
|
rs1457125451 CA359665213 |
62 | P>R | No |
ClinGen TOPMed |
|
rs1579933646 CA359665171 |
66 | P>L | No |
ClinGen Ensembl |
|
CA359665178 rs1407836314 |
66 | P>T | No |
ClinGen TOPMed |
|
CA359665138 rs1450781688 |
70 | A>S | No |
ClinGen gnomAD |
|
rs1245815878 CA359665119 |
72 | C>G | No |
ClinGen TOPMed |
|
CA359665051 rs1340298906 |
78 | P>L | No |
ClinGen TOPMed |
|
CA359665034 rs1177968468 |
80 | R>W | No |
ClinGen gnomAD |
|
rs1005340018 COSM3787062 CA117932695 |
83 | R>L | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA359664988 rs1561241070 |
84 | P>L | No |
ClinGen Ensembl |
|
CA117932688 rs1035915839 |
85 | G>R | No |
ClinGen TOPMed |
|
CA359664947 rs1273877500 |
87 | L>P | No |
ClinGen gnomAD |
|
rs755434574 | 89 | E>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
rs1430315681 CA359664923 |
89 | E>K | No |
ClinGen gnomAD |
|
CA3257550 rs749422672 |
90 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA359664622 rs749422672 |
90 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs562316321 CA117931956 |
91 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed |
|
CA3257549 rs562316321 |
91 | T>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed |
CA117931944 rs955226708 |
92 | R>K | No |
ClinGen TOPMed |
|
rs767785421 CA117931940 |
93 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1002403168 CA117931927 |
93 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs767785421 CA3257546 |
93 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767785421 CA3257547 |
93 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3257543 rs764160098 |
94 | L>P | No |
ClinGen ExAC gnomAD |
|
rs962431319 CA117931860 |
95 | R>K | No |
ClinGen TOPMed gnomAD |
|
rs190101953 CA3257540 |
97 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA3257539 rs759019019 |
98 | P>T | No |
ClinGen ExAC gnomAD |
|
rs776279823 CA3257538 |
99 | S>T | No |
ClinGen ExAC gnomAD |
|
CA359664557 rs1579932559 |
102 | D>G | No |
ClinGen Ensembl |
|
CA3257535 rs774663961 |
102 | D>N | No |
ClinGen ExAC gnomAD |
|
rs548754300 CA117931788 |
103 | K>N | No |
ClinGen Ensembl |
|
rs1362547839 CA359664534 |
105 | P>L | No |
ClinGen gnomAD |
|
rs1165971006 CA359664532 |
106 | Q>E | No |
ClinGen gnomAD |
|
CA3257534 rs769196105 |
107 | Q>E | No |
ClinGen ExAC gnomAD |
|
rs1246902869 CA359664522 |
107 | Q>P | No |
ClinGen TOPMed |
|
CA3257533 rs748499230 |
108 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769772392 CA3257531 |
112 | A>T | No |
ClinGen ExAC gnomAD |
|
CA359664457 rs1204002761 |
113 | M>T | No |
ClinGen gnomAD |
|
rs745905117 CA3257530 |
114 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1293344317 CA359664434 |
115 | K>M | No |
ClinGen gnomAD |
|
rs781589612 CA3257529 |
116 | P>L | No |
ClinGen ExAC gnomAD |
|
CA117931703 rs892183888 |
117 | Q>R | No |
ClinGen Ensembl |
|
CA359664409 rs1312630839 |
118 | V>L | No |
ClinGen gnomAD |
|
rs1340417445 CA359664400 |
119 | V>L | No |
ClinGen TOPMed |
|
rs1328395337 CA359664374 |
121 | A>V | No |
ClinGen gnomAD |
|
CA3257525 rs758420058 |
122 | P>L | No |
ClinGen ExAC |
|
rs752581221 CA3257524 |
123 | V>I | No |
ClinGen ExAC gnomAD |
|
rs765163438 CA3257523 |
124 | L>F | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 124 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA3257522 rs367757021 |
125 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA117931661 rs944333142 |
125 | M>V | No |
ClinGen Ensembl |
|
CA3257521 rs374480379 |
127 | K>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1365565019 CA359664320 |
127 | K>Q | No |
ClinGen gnomAD |
|
CA3257520 rs374480379 |
127 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1301683689 CA359664308 |
128 | L>P | No |
ClinGen gnomAD |
|
rs1460624136 CA359664290 |
130 | V>M | No |
ClinGen TOPMed |
|
CA359664268 rs1426398904 |
132 | A>G | No |
ClinGen gnomAD |
|
TCGA novel | 134 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1490164975 CA359664203 |
139 | G>D | No |
ClinGen gnomAD |
|
rs774753530 CA3257518 |
139 | G>S | No |
ClinGen ExAC gnomAD |
|
CA359664201 rs1490164975 |
139 | G>V | No |
ClinGen gnomAD |
|
rs768894743 CA3257517 |
141 | S>F | No |
ClinGen ExAC gnomAD |
|
rs1320421758 CA359664161 |
142 | S>F | No |
ClinGen TOPMed gnomAD |
|
rs1372365110 CA359664167 |
142 | S>T | No |
ClinGen TOPMed gnomAD |
|
COSM177137 CA359664144 rs1339777441 |
143 | S>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
CA3257515 rs540649575 |
144 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
TCGA novel | 144 | Y>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA3257514 rs370971947 |
145 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA359664106 rs370971947 |
145 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA3257492 rs201581258 |
148 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201581258 CA359662816 |
148 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1462523269 CA359662793 |
151 | G>D | No |
ClinGen TOPMed gnomAD |
|
CA3257491 rs772298149 |
152 | C>F | No |
ClinGen ExAC gnomAD |
|
rs147428438 CA3257490 |
154 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA3257489 rs778743590 |
156 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1225606316 CA359662755 |
157 | T>A | No |
ClinGen gnomAD |
|
rs1346442585 CA359662721 |
162 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA359662712 rs1236996091 |
163 | Q>R | No |
ClinGen gnomAD |
|
rs754923991 CA3257488 |
164 | D>N | No |
ClinGen ExAC gnomAD |
|
CA359662687 rs1402790064 |
166 | L>F | No |
ClinGen TOPMed |
|
rs1302070069 CA359662685 |
167 | N>D | No |
ClinGen TOPMed |
|
CA117924122 rs1025162380 |
167 | N>K | No |
ClinGen TOPMed |
|
rs779896134 CA3257486 |
172 | Q>K | No |
ClinGen ExAC gnomAD |
|
rs989975853 CA117924098 |
174 | G>A | No |
ClinGen Ensembl |
|
rs989975853 CA359662635 |
174 | G>D | No |
ClinGen Ensembl |
|
CA3257485 rs755638110 |
179 | E>A | No |
ClinGen ExAC gnomAD |
|
CA359662562 rs1319709352 |
184 | A>T | No |
ClinGen gnomAD |
|
rs1400821137 CA359662552 |
184 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA3257484 rs749889316 |
189 | G>S | No |
ClinGen ExAC gnomAD |
|
rs756906120 CA3257482 |
191 | V>L | No |
ClinGen ExAC gnomAD |
|
CA359662391 rs1319938159 |
198 | Q>E | No |
ClinGen TOPMed |
|
rs1447607766 CA359662361 |
200 | L>F | No |
ClinGen gnomAD |
|
rs1285442912 CA359662350 |
201 | V>G | No |
ClinGen TOPMed gnomAD |
|
rs765621661 CA3257480 |
202 | E>D | No |
ClinGen ExAC gnomAD |
|
rs1269814753 CA359662328 |
203 | L>R | No |
ClinGen TOPMed |
|
rs760188858 CA117924027 |
204 | I>M | No |
ClinGen ExAC gnomAD |
|
CA117924031 rs1000281930 |
204 | I>S | No |
ClinGen TOPMed |
|
rs955157098 CA117924041 |
204 | I>V | No |
ClinGen Ensembl |
|
CA3257478 rs776583259 |
205 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA359662301 rs776583259 |
205 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA359662310 rs1180522936 |
205 | Y>H | No |
ClinGen TOPMed |
|
CA3257456 rs749328612 |
208 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs950869337 CA117919942 |
209 | T>I | No |
ClinGen TOPMed |
|
rs1004196277 CA117919925 |
210 | S>F | No |
ClinGen Ensembl |
|
rs761729968 CA3257454 |
210 | S>T | No |
ClinGen ExAC gnomAD |
|
CA3257453 rs774643854 |
211 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3257452 rs768820165 |
212 | P>R | No |
ClinGen ExAC gnomAD |
|
rs775238326 CA3257450 |
213 | N>D | No |
ClinGen ExAC gnomAD |
|
rs1224989549 CA359660877 |
214 | F>V | No |
ClinGen gnomAD |
|
rs200898020 CA3257447 |
217 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA359660816 rs1299999029 |
217 | M>T | No |
ClinGen TOPMed gnomAD |
|
rs1561233981 CA359660722 |
223 | N>D | No |
ClinGen Ensembl |
|
CA359660718 rs1217351323 |
223 | N>S | No |
ClinGen gnomAD |
|
TCGA novel | 223 | N>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA3257445 rs770481346 |
227 | H>Q | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 228 | H>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA359660633 rs1579919162 |
228 | H>N | No |
ClinGen Ensembl |
|
rs777598536 CA3257443 |
230 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs140990754 CA3257442 |
231 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA359660550 rs1429994280 |
233 | P>A | No |
ClinGen TOPMed gnomAD |
|
rs1429994280 CA359660552 |
233 | P>T | No |
ClinGen TOPMed gnomAD |
|
rs1175467418 CA359660532 |
234 | Q>H | No |
ClinGen TOPMed gnomAD |
|
rs780551266 CA3257440 |
235 | S>N | No |
ClinGen ExAC gnomAD |
|
rs767850266 CA3257438 |
237 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767850266 CA3257437 |
237 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767850266 CA3257439 |
237 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3257436 rs17851362 |
239 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs751556168 CA3257435 |
239 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA117919844 rs751556168 |
239 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA359660497 rs1461503885 |
240 | Q>L | No |
ClinGen gnomAD |
|
rs1294792325 CA359660491 |
241 | L>S | No |
ClinGen gnomAD |
|
CA359660480 rs1307673341 |
243 | L>F | No |
ClinGen TOPMed gnomAD |
|
CA359659717 rs752921741 |
247 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs199828948 CA3257413 |
247 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA3257414 rs752921741 |
247 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA558865324 rs1364087769 |
249 | E>* | No |
ClinGen gnomAD |
|
CA359659688 rs759399679 |
249 | E>D | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 258 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA3257411 rs377594386 |
258 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
rs1359264575 CA359659567 |
259 | G>E | No |
ClinGen TOPMed gnomAD |
|
CA359659558 rs1165832398 |
260 | D>V | No |
ClinGen gnomAD |
|
CA3257409 rs760516043 |
264 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs922298642 CA117915753 |
264 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs377433433 CA359659499 |
266 | R>P | No |
ClinGen ESP ExAC gnomAD |
|
rs377433433 CA3257408 |
266 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
CA3257407 rs771708331 |
268 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA359659417 rs1265011095 |
274 | L>V | No |
ClinGen TOPMed |
|
rs746287460 CA3257403 |
275 | G>R | No |
ClinGen ExAC gnomAD |
|
CA3257402 rs781392602 |
278 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs1263461989 CA359659376 |
278 | Y>H | No |
ClinGen gnomAD |
|
TCGA novel | 279 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1309548016 CA359659349 |
280 | N>I | No |
ClinGen gnomAD |
|
CA359659344 rs1278918018 |
280 | N>K | No |
ClinGen gnomAD |
|
rs1579911948 CA359658845 |
284 | K>R | No |
ClinGen Ensembl |
|
CA359658775 rs1375901890 |
289 | Q>R | No |
ClinGen gnomAD |
|
rs751142862 CA3257367 |
298 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs375053699 CA3257368 |
298 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs751142862 CA359658661 |
298 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA359658667 rs375053699 |
298 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs763511432 CA3257366 |
299 | G>A | No |
ClinGen ExAC gnomAD |
|
rs1344884861 CA359658634 |
301 | R>* | No |
ClinGen gnomAD |
|
rs140543083 COSM738709 CA3257365 |
301 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
CA117913899 rs923942364 |
305 | N>S | No |
ClinGen TOPMed gnomAD |
|
rs1378024442 CA359658528 |
309 | S>C | No |
ClinGen gnomAD |
|
CA3257364 rs775020225 |
311 | P>A | No |
ClinGen ExAC gnomAD |
|
rs1444109582 CA359658501 |
312 | M>V | No |
ClinGen gnomAD |
|
CA359658468 rs1305944324 |
314 | D>N | No |
ClinGen TOPMed |
|
rs1334215477 CA359658406 |
318 | C>S | No |
ClinGen gnomAD |
|
rs1413463127 CA359658393 |
319 | A>S | No |
ClinGen gnomAD |
|
CA359658383 rs1160188699 |
320 | V>I | No |
ClinGen gnomAD |
|
rs1440237382 CA359658350 CA359658352 |
322 | L>F | No |
ClinGen TOPMed gnomAD |
|
rs1197045775 CA359658149 |
327 | G>E | No |
ClinGen Ensembl |
|
rs1193617875 CA359658140 |
328 | S>L | No |
ClinGen gnomAD |
|
rs375297911 CA3257332 |
331 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 332 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1398257099 CA359658093 |
333 | A>T | No |
ClinGen TOPMed |
|
rs559313668 CA3257331 |
336 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs969485953 CA117912719 |
340 | M>T | No |
ClinGen gnomAD |
|
CA359658006 rs1400125520 |
340 | M>V | No |
ClinGen gnomAD |
|
CA359657994 rs1296216167 |
341 | D>H | No |
ClinGen TOPMed gnomAD |
|
CA3257330 rs775615322 |
342 | M>L | No |
ClinGen ExAC gnomAD |
|
CA117912707 rs1023419694 |
347 | Q>R | No |
ClinGen Ensembl |
|
rs770201798 CA3257329 |
348 | R>K | No |
ClinGen ExAC gnomAD |
|
rs746087575 CA3257328 |
349 | I>V | No |
ClinGen ExAC gnomAD |
|
rs143500985 CA3257326 |
352 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 353 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1423042327 CA359657807 |
356 | A>T | No |
ClinGen gnomAD |
|
CA3257323 rs758327466 |
358 | C>G | No |
ClinGen ExAC gnomAD |
|
rs752205210 CA3257322 |
360 | R>K | No |
ClinGen ExAC gnomAD |
|
rs1579909644 CA359657702 |
361 | D>G | No |
ClinGen Ensembl |
|
rs1274165130 CA359657708 |
361 | D>Y | No |
ClinGen TOPMed |
|
CA117912154 rs922377691 |
362 | V>I | No |
ClinGen TOPMed gnomAD |
|
CA117912083 rs866284057 |
370 | V>I | No |
ClinGen Ensembl |
|
rs1240450190 CA359657594 |
371 | E>Q | No |
ClinGen gnomAD |
|
rs777604242 CA3257306 |
372 | L>I | No |
ClinGen ExAC gnomAD |
|
rs748118672 CA117912070 |
373 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748118672 CA3257304 |
373 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA3257305 rs537292836 |
373 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs1211668780 CA359657528 |
377 | W>C | No |
ClinGen gnomAD |
|
CA359657520 rs1312678357 |
378 | G>D | No |
ClinGen gnomAD |
|
rs963790802 CA117912068 |
379 | R>K | No |
ClinGen TOPMed |
|
CA3257302 rs754502613 |
380 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA359657506 rs754502613 |
380 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762696122 CA117912026 |
381 | H>N | No |
ClinGen Ensembl |
|
rs1447773425 CA359657486 |
381 | H>Q | No |
ClinGen gnomAD |
|
CA117912008 rs199834392 |
381 | H>R | No |
ClinGen gnomAD |
|
rs540684238 CA117911977 |
382 | A>S | No |
ClinGen TOPMed gnomAD |
|
rs540684238 CA359657483 |
382 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs766058654 CA3257300 |
382 | A>V | No |
ClinGen ExAC gnomAD |
|
CA359657461 rs1467694235 |
384 | S>A | No |
ClinGen gnomAD |
|
rs755767615 CA3257299 |
384 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs763161379 CA3257298 |
385 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763161379 CA3257297 |
385 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3257296 rs763161379 |
385 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs571425260 CA359657429 |
386 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA359657434 rs776154087 |
386 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3257295 rs776154087 |
386 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1179727783 CA359657427 |
387 | R>G | No |
ClinGen gnomAD |
|
rs1441796314 CA359657360 |
394 | D>G | No |
ClinGen gnomAD |
|
rs771110275 CA3257291 |
399 | M>L | No |
ClinGen ExAC gnomAD |
|
rs765888476 CA3257276 |
402 | P>A | No |
ClinGen ExAC gnomAD |
|
rs754032069 CA3257274 |
406 | T>I | No |
ClinGen ExAC |
|
CA359657212 rs1179671189 |
407 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs113833560 CA117910947 |
410 | V>A | No |
ClinGen TOPMed |
|
rs766481788 CA3257273 |
411 | P>L | No |
ClinGen ExAC gnomAD |
|
CA359657179 rs1423001735 |
411 | P>S | No |
ClinGen TOPMed |
|
CA3257272 rs760610345 |
415 | A>G | No |
ClinGen ExAC gnomAD |
|
CA3257271 rs773501499 |
417 | P>R | No |
ClinGen ExAC gnomAD |
|
rs1215838940 CA359657140 |
417 | P>S | No |
ClinGen gnomAD |
|
CA359657095 rs1265034344 |
418 | D>E | No |
ClinGen gnomAD |
|
rs1320007326 CA359657091 |
419 | Y>C | No |
ClinGen TOPMed gnomAD |
|
CA3257254 rs779410324 |
419 | Y>H | No |
ClinGen ExAC gnomAD |
|
CA3257252 rs754406394 |
425 | E>A | No |
ClinGen ExAC gnomAD |
|
rs930144885 CA359657004 |
431 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs930144885 CA117903342 |
431 | D>N | No |
ClinGen TOPMed |
|
rs1390498170 CA359656973 |
435 | D>Y | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 436 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA3257251 rs547385153 |
436 | Y>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA3257250 rs760835280 |
436 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA359656966 rs547385153 |
436 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 437 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA117903289 rs961095978 |
437 | E>K | No |
ClinGen Ensembl |
|
rs1169413260 CA359656943 |
439 | N>S | No |
ClinGen gnomAD |
|
CA359656905 rs1379342059 |
445 | G>R | No |
ClinGen TOPMed gnomAD |
|
CA359656898 rs1279113828 |
446 | A>P | No |
ClinGen gnomAD |
|
CA3257247 rs762007079 |
447 | G>S | No |
ClinGen ExAC gnomAD |
|
rs149920694 CA3257246 |
449 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA3257243 rs775521136 |
449 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA3257244 rs775521136 |
449 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs149920694 CA3257245 |
449 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs149920694 CA359656880 |
449 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs757259103 CA3257225 |
450 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA359656575 rs1353945897 |
451 | L>F | No |
ClinGen gnomAD |
|
CA359656558 rs1308026266 |
453 | D>N | No |
ClinGen TOPMed gnomAD |
|
CA3257224 rs751795197 |
454 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA359656502 rs1342262762 |
456 | D>E | No |
ClinGen TOPMed |
|
rs764253665 CA3257223 |
458 | M>I | No |
ClinGen ExAC gnomAD |
|
rs573216023 CA3257221 |
468 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1373596830 CA359656371 |
468 | K>T | No |
ClinGen gnomAD |
|
TCGA novel | 471 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1158147214 CA359656318 |
473 | S>L | No |
ClinGen gnomAD |
|
rs919475254 CA117901155 |
473 | S>P | No |
ClinGen Ensembl |
|
rs759381679 COSM1068436 CA3257219 |
475 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs202074856 CA3257218 |
475 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA3257217 rs201359614 |
477 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3257216 rs200129628 |
477 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA359656257 rs1219473715 |
479 | Q>R | No |
ClinGen gnomAD |
No associated diseases with Q9H074
13 regional properties for Q9H074
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | B-box-type zinc finger | 92 - 133 | IPR000315 |
domain | Zinc finger, RING-type | 16 - 57 | IPR001841 |
domain | B30.2/SPRY domain | 276 - 468 | IPR001870 |
domain | SPRY domain | 346 - 465 | IPR003877 |
domain | Butyrophylin-like, SPRY domain | 292 - 309 | IPR003879-1 |
domain | Butyrophylin-like, SPRY domain | 309 - 326 | IPR003879-2 |
domain | Butyrophylin-like, SPRY domain | 331 - 355 | IPR003879-3 |
domain | Butyrophylin-like, SPRY domain | 361 - 374 | IPR003879-4 |
domain | Butyrophylin-like, SPRY domain | 404 - 428 | IPR003879-5 |
domain | Butyrophylin-like, SPRY domain | 434 - 452 | IPR003879-6 |
domain | SPRY-associated | 293 - 345 | IPR006574 |
conserved_site | Zinc finger, RING-type, conserved site | 31 - 40 | IPR017907 |
domain | TRIM75, PRY/SPRY domain | 276 - 462 | IPR035785 |
3 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. |
mCRD-mediated mRNA stability complex | A protein complex that binds to, and promotes stabilization of, mRNA molecules containing the major coding region instability determinant (mCRD) by bridging the mCRD domain and the poly(A) tail of the mRNA. In human, it consists of CSDE1, HNRPD, PABPC1, PAIP1 and SYNCRIP. |
2 GO annotations of molecular function
Name | Definition |
---|---|
RNA binding | Binding to an RNA molecule or a portion thereof. |
translation activator activity | Any of a group of soluble proteins functioning in the activation of ribosome-mediated translation of mRNA into a polypeptide. |
7 GO annotations of biological process
Name | Definition |
---|---|
CRD-mediated mRNA stabilization | An mRNA stabilization process in which one or more RNA-binding proteins associate with a sequence in the open reading frame called the coding region instability determinant (CRD). |
mRNA stabilization | Prevention of degradation of mRNA molecules. In the absence of compensating changes in other processes, the slowing of mRNA degradation can result in an overall increase in the population of active mRNA molecules. |
negative regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | Any process that stops, prevents or reduces the frequency, rate or extent of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay. |
positive regulation by host of viral process | A process in which a host organism activates or increases the frequency, rate or extent of the release of a process being mediated by a virus with which it is infected. |
positive regulation of cytoplasmic translation | Any process that activates or increases the frequency, rate or extent of cytoplasmic translation. |
regulation of translational initiation | Any process that modulates the frequency, rate or extent of translational initiation. |
translational initiation | The process preceding formation of the peptide bond between the first two amino acids of a protein. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA. |
8 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q95L46 | EIF4G2 | Eukaryotic translation initiation factor 4 gamma 2 | Bos taurus (Bovine) | PR |
O43432 | EIF4G3 | Eukaryotic translation initiation factor 4 gamma 3 | Homo sapiens (Human) | EV |
Q04637 | EIF4G1 | Eukaryotic translation initiation factor 4 gamma 1 | Homo sapiens (Human) | EV |
P78344 | EIF4G2 | Eukaryotic translation initiation factor 4 gamma 2 | Homo sapiens (Human) | PR |
Q6NZJ6 | Eif4g1 | Eukaryotic translation initiation factor 4 gamma 1 | Mus musculus (Mouse) | SS |
Q80XI3 | Eif4g3 | Eukaryotic translation initiation factor 4 gamma 3 | Mus musculus (Mouse) | SS |
Q62448 | Eif4g2 | Eukaryotic translation initiation factor 4 gamma 2 | Mus musculus (Mouse) | PR |
Q8VE62 | Paip1 | Polyadenylate-binding protein-interacting protein 1 | Mus musculus (Mouse) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MSDGFDRAPG | AGRGRSRGLG | RGGGGPEGGG | FPNGAGPAER | ARHQPPQPKA | PGFLQPPPLR |
70 | 80 | 90 | 100 | 110 | 120 |
QPRTTPPPGA | QCEVPASPQR | PSRPGALPEQ | TRPLRAPPSS | QDKIPQQNSE | SAMAKPQVVV |
130 | 140 | 150 | 160 | 170 | 180 |
APVLMSKLSV | NAPEFYPSGY | SSSYTESYED | GCEDYPTLSE | YVQDFLNHLT | EQPGSFETEI |
190 | 200 | 210 | 220 | 230 | 240 |
EQFAETLNGC | VTTDDALQEL | VELIYQQATS | IPNFSYMGAR | LCNYLSHHLT | ISPQSGNFRQ |
250 | 260 | 270 | 280 | 290 | 300 |
LLLQRCRTEY | EVKDQAAKGD | EVTRKRFHAF | VLFLGELYLN | LEIKGTNGQV | TRADILQVGL |
310 | 320 | 330 | 340 | 350 | 360 |
RELLNALFSN | PMDDNLICAV | KLLKLTGSVL | EDAWKEKGKM | DMEEIIQRIE | NVVLDANCSR |
370 | 380 | 390 | 400 | 410 | 420 |
DVKQMLLKLV | ELRSSNWGRV | HATSTYREAT | PENDPNYFMN | EPTFYTSDGV | PFTAADPDYQ |
430 | 440 | 450 | 460 | 470 | |
EKYQELLERE | DFFPDYEENG | TDLSGAGDPY | LDDIDDEMDP | EIEEAYEKFC | LESERKRKQ |