O60684
Gene name |
KPNA6 (IPOA7) |
Protein name |
Importin subunit alpha-7 |
Names |
Karyopherin subunit alpha-6 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23633 |
EC number |
|
Protein Class |
|

Descriptions
Autoinhibitory domains (AIDs)
Target domain |
112-513 (NLS-binding domain comprising armadillo (Arm) repeats) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
References
- Kimoto C et al. (2015) "Functional characterization of importin α8 as a classical nuclear localization signal receptor", Biochimica et biophysica acta, 1853, 2676-83
- Kobe B (1999) "Autoinhibition by an internal nuclear localization signal revealed by the crystal structure of mammalian importin alpha", Nature structural biology, 6, 388-97
- Miyatake H et al. (2015) "Crystal structure of human importin-α1 (Rch1), revealing a potential autoinhibition mode involving homodimerization", PloS one, 10, e0115995
- Catimel B et al. (2001) "Biophysical characterization of interactions involving importin-alpha during nuclear import", The Journal of biological chemistry, 276, 34189-98
Autoinhibited structure

Activated structure

3 structures for O60684
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
4UAD | X-ray | 242 A | A | 59-536 | PDB |
7RHT | X-ray | 250 A | A | 59-536 | PDB |
AF-O60684-F1 | Predicted | AlphaFoldDB |
229 variants for O60684
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs1334483659 CA339614837 |
2 | E>D | No |
ClinGen TOPMed |
|
CA738255 rs759901192 |
3 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA738256 rs147022148 |
4 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA738257 rs752210764 |
5 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1214369494 CA339614855 |
5 | A>V | No |
ClinGen Ensembl |
|
rs753539227 CA738261 |
9 | K>N | No |
ClinGen ExAC gnomAD |
|
CA20214847 rs141995585 |
11 | N>S | No |
ClinGen ESP TOPMed |
|
rs745701000 CA738263 |
14 | M>L | No |
ClinGen ExAC gnomAD |
|
rs1427457708 CA339614924 |
15 | K>R | No |
ClinGen gnomAD |
|
CA738264 rs758229202 |
16 | S>N | No |
ClinGen ExAC gnomAD |
|
CA20214898 rs763659838 |
19 | N>T | No |
ClinGen gnomAD |
|
rs1458797536 CA339614988 |
22 | L>V | No |
ClinGen gnomAD |
|
rs747000631 CA738266 |
24 | P>T | No |
ClinGen ExAC gnomAD |
|
CA738269 rs138489690 |
29 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA20214943 rs1037653880 |
30 | R>T | No |
ClinGen Ensembl |
|
rs1330205710 CA339615216 |
37 | Q>H | No |
ClinGen gnomAD |
|
rs1437487701 CA339615210 |
37 | Q>R | No |
ClinGen TOPMed |
|
CA339615248 rs1570052624 |
39 | R>W | No |
ClinGen Ensembl |
|
CA339615285 rs1271767994 |
40 | K>N | No |
ClinGen gnomAD |
|
CA339615382 rs1365330198 |
45 | Q>R | No |
ClinGen TOPMed |
|
CA339616223 rs1483917849 |
47 | L>F | No |
ClinGen gnomAD |
|
rs1570056729 CA339616372 |
55 | L>M | No |
ClinGen Ensembl |
|
rs749407936 CA738288 |
56 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1473114380 CA339616422 |
57 | N>H | No |
ClinGen gnomAD |
|
CA339616469 rs1570056760 |
60 | A>G | No |
ClinGen Ensembl |
|
CA738289 rs144343640 |
61 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA738290 rs774597008 |
61 | A>V | No |
ClinGen ExAC gnomAD |
|
rs267598552 CA339616512 |
63 | F>L | No |
ClinGen gnomAD |
|
rs746123297 CA738291 COSM174279 |
64 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs772466071 CA339616562 |
65 | S>C | No |
ClinGen ExAC gnomAD |
|
rs772466071 CA738292 |
65 | S>G | No |
ClinGen ExAC gnomAD |
|
CA20216475 rs963803065 |
70 | S>P | No |
ClinGen Ensembl |
|
CA20216478 rs764737482 |
71 | Y>S | No |
ClinGen Ensembl |
|
rs776004686 CA738293 |
73 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA339616767 rs764724385 |
74 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA738295 rs764724385 |
74 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761209062 CA738294 |
74 | S>P | No |
ClinGen ExAC gnomAD |
|
rs1027825365 CA20216485 |
77 | G>W | No |
ClinGen Ensembl |
|
rs142142441 CA738320 |
80 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs912459645 CA20216878 |
80 | V>M | No |
ClinGen Ensembl |
|
CA738321 rs759292235 |
82 | T>S | No |
ClinGen ExAC gnomAD |
|
CA339617252 rs1249386417 |
92 | D>N | No |
ClinGen gnomAD |
|
rs752663765 CA738323 |
93 | D>E | No |
ClinGen ExAC gnomAD |
|
CA738325 rs778995231 |
94 | S>C | No |
ClinGen ExAC gnomAD |
|
CA738324 rs756071005 |
94 | S>P | No |
ClinGen ExAC gnomAD |
|
rs758657213 CA738327 |
95 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA738326 rs373657496 |
95 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA339617374 rs1457214865 |
99 | A>S | No |
ClinGen TOPMed gnomAD |
|
rs1457214865 CA339617372 |
99 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs1557479868 CA339617409 |
101 | T>A | No |
ClinGen Ensembl |
|
rs747284304 CA738329 |
108 | L>P | No |
ClinGen ExAC gnomAD |
|
CA738349 rs755257568 |
115 | P>R | No |
ClinGen ExAC gnomAD |
|
rs781559441 CA738350 |
116 | I>V | No |
ClinGen ExAC gnomAD |
|
rs748481833 CA738351 |
121 | N>S | No |
ClinGen ExAC gnomAD |
|
CA738353 rs778111375 |
122 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1254398924 CA339618230 |
123 | P>A | No |
ClinGen gnomAD |
|
rs1334208325 CA339618265 |
126 | V>M | No |
ClinGen TOPMed |
|
CA339618294 rs1369155840 |
128 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA738356 rs773914628 |
131 | E>D | No |
ClinGen ExAC gnomAD |
|
CA339618332 rs1570059496 |
132 | F>V | No |
ClinGen Ensembl |
|
CA339618381 rs1214809081 |
135 | R>G | No |
ClinGen TOPMed |
|
rs1370263862 CA339618390 |
135 | R>K | No |
ClinGen gnomAD |
|
rs1321327167 CA339618403 |
136 | N>H | No |
ClinGen TOPMed gnomAD |
|
CA339618436 rs1430632423 |
137 | E>D | No |
ClinGen gnomAD |
|
rs1207131989 CA339618740 |
152 | I>V | No |
ClinGen gnomAD |
|
rs746733176 CA738379 |
162 | I>M | No |
ClinGen ExAC |
|
rs768332506 CA738380 |
163 | V>I | No |
ClinGen ExAC gnomAD |
|
rs761785742 CA738382 |
164 | I>L | No |
ClinGen ExAC gnomAD |
|
CA339618958 rs1207356546 |
165 | E>K | No |
ClinGen gnomAD |
|
rs983294663 CA20218280 |
168 | A>S | No |
ClinGen TOPMed gnomAD |
|
CA20218286 rs1053970863 |
177 | N>Y | No |
ClinGen Ensembl |
|
rs1190770120 CA339619341 |
179 | D>E | No |
ClinGen gnomAD |
|
rs1465364959 CA339619334 |
179 | D>G | No |
ClinGen gnomAD |
|
rs765286277 CA738383 |
185 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA738398 rs768370964 |
194 | I>V | No |
ClinGen ExAC gnomAD |
|
CA20219174 rs866637173 |
201 | C>S | No |
ClinGen Ensembl |
|
CA738399 rs781088395 |
205 | V>I | No |
ClinGen ExAC gnomAD |
|
rs1219035507 CA339620362 |
208 | C>R | No |
ClinGen TOPMed |
|
CA339620386 rs1267155335 |
208 | C>S | No |
ClinGen TOPMed |
|
CA339620490 rs747478809 |
211 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747478809 CA738400 |
211 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769748870 CA738401 |
216 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA738421 rs747848245 |
217 | L>I | No |
ClinGen ExAC gnomAD |
|
CA339621989 rs1398019937 |
219 | T>N | No |
ClinGen gnomAD |
|
rs200893401 CA20220277 |
222 | T>I | No |
ClinGen TOPMed |
|
rs769694883 CA738422 |
223 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA20220288 rs1011650844 |
225 | T>M | No |
ClinGen TOPMed gnomAD |
|
rs965307012 CA20220296 |
226 | M>T | No |
ClinGen TOPMed gnomAD |
|
CA738425 rs770912747 |
227 | T>I | No |
ClinGen ExAC gnomAD |
|
CA20220301 rs1022101050 |
228 | R>W | No |
ClinGen gnomAD |
|
rs1308549405 CA339622229 |
239 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA20220327 rs953837253 |
246 | E>D | No |
ClinGen TOPMed |
|
CA738458 rs767067967 COSM1321152 |
251 | S>F | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs755776928 CA738460 |
252 | P>L | No |
ClinGen ExAC gnomAD |
|
rs752268057 CA738459 |
252 | P>T | No |
ClinGen ExAC gnomAD |
|
rs1220892400 CA339622634 |
254 | L>F | No |
ClinGen gnomAD |
|
rs1327865800 CA339622681 |
256 | V>L | No |
ClinGen gnomAD |
|
CA339622683 rs1327865800 |
256 | V>L | No |
ClinGen gnomAD |
|
CA20220657 rs879224843 |
259 | R>C | No |
ClinGen Ensembl |
|
rs1269464403 CA339622746 |
259 | R>H | No |
ClinGen gnomAD |
|
CA738464 rs778640897 |
261 | L>V | No |
ClinGen ExAC gnomAD |
|
rs781203110 CA738467 |
266 | S>L | No |
ClinGen ExAC gnomAD |
|
rs1457168018 CA339622998 |
268 | L>F | No |
ClinGen gnomAD |
|
rs1570066636 CA339623164 |
275 | A>G | No |
ClinGen Ensembl |
|
rs1160066368 CA339623180 |
276 | L>V | No |
ClinGen gnomAD |
|
CA738471 rs749527358 |
279 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1462650669 CA339623289 |
281 | D>H | No |
ClinGen TOPMed |
|
CA738472 rs771319209 |
284 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1249666840 CA339623372 |
285 | E>G | No |
ClinGen TOPMed |
|
rs774579162 CA738473 |
289 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1570066757 CA339623590 |
294 | G>R | No |
ClinGen Ensembl |
|
CA339623615 rs1349857595 |
296 | C>S | No |
ClinGen gnomAD |
|
CA339623626 rs1479886582 |
297 | R>Q | No |
ClinGen TOPMed |
|
CA738476 rs377221347 |
297 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs891988562 CA339623639 |
298 | R>K | No |
ClinGen TOPMed gnomAD |
|
rs1353593234 CA339623661 |
298 | R>S | No |
ClinGen gnomAD |
|
rs891988562 CA20220716 |
298 | R>T | No |
ClinGen TOPMed gnomAD |
|
CA339623681 rs1471126613 |
299 | L>S | No |
ClinGen TOPMed |
|
CA339623704 rs1157094586 |
300 | V>L | No |
ClinGen Ensembl |
|
rs1435781138 CA339624087 |
305 | H>R | No |
ClinGen TOPMed |
|
CA339624073 rs1166901812 |
305 | H>Y | No |
ClinGen gnomAD |
|
CA339624137 rs1183919944 |
306 | N>K | No |
ClinGen TOPMed |
|
CA339624111 rs1389342991 |
306 | N>S | No |
ClinGen gnomAD |
|
rs752804375 CA20221328 |
308 | Y>S | No |
ClinGen Ensembl |
|
rs776018482 CA738498 |
312 | S>F | No |
ClinGen ExAC gnomAD |
|
CA339624328 rs1400054580 |
313 | P>S | No |
ClinGen gnomAD |
|
CA738499 rs761481906 |
314 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761481906 CA339624350 |
314 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764833156 CA738500 |
315 | L>P | No |
ClinGen ExAC gnomAD |
|
CA339624426 rs1384318380 |
315 | L>V | No |
ClinGen gnomAD |
|
CA339624506 rs1557483610 |
317 | A>S | No |
ClinGen Ensembl |
|
CA339624520 rs1341901080 |
317 | A>V | No |
ClinGen gnomAD |
|
rs1570068655 CA339624545 |
318 | V>G | No |
ClinGen Ensembl |
|
rs1376471130 CA339624525 |
318 | V>M | No |
ClinGen TOPMed |
|
rs1253429804 CA339624640 |
321 | I>F | No |
ClinGen gnomAD |
|
rs1253429804 CA339624642 COSM3700704 |
321 | I>V | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1200353435 CA339624660 COSM1341783 |
322 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA738505 rs754871813 |
325 | D>A | No |
ClinGen ExAC gnomAD |
|
rs754871813 CA339624721 |
325 | D>G | No |
ClinGen ExAC gnomAD |
|
rs1186917282 CA339624777 |
327 | I>L | No |
ClinGen gnomAD |
|
CA339624847 rs1570068746 |
330 | Q>P | No |
ClinGen Ensembl |
|
rs781531591 CA738536 |
337 | A>T | No |
ClinGen ExAC gnomAD |
|
CA339626744 rs1317546654 |
337 | A>V | No |
ClinGen gnomAD |
|
CA339626758 rs1218232485 |
338 | L>P | No |
ClinGen gnomAD |
|
CA339626772 rs1260714576 |
339 | P>A | No |
ClinGen gnomAD |
|
CA738539 rs149808732 |
347 | S>G | No |
ClinGen ESP ExAC gnomAD |
|
CA339626952 rs1471590531 |
348 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs1471590531 CA339626950 |
348 | P>T | No |
ClinGen TOPMed gnomAD |
|
CA339626969 rs1349577686 |
349 | K>R | No |
ClinGen TOPMed |
|
CA20223419 rs1024300063 |
353 | R>W | No |
ClinGen TOPMed gnomAD |
|
rs1420291873 CA339627163 |
357 | C>S | No |
ClinGen gnomAD |
|
CA339627264 rs1339078049 |
363 | I>V | No |
ClinGen TOPMed |
|
rs770588651 CA738541 |
364 | T>A | No |
ClinGen ExAC gnomAD |
|
CA738542 rs774154486 |
367 | N>S | No |
ClinGen ExAC gnomAD |
|
CA339627358 COSM1602204 rs1304173803 |
368 | R>S | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1021182532 CA20224075 |
374 | V>A | No |
ClinGen Ensembl |
|
rs775370186 CA339627551 |
375 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760640550 CA738568 |
375 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760640550 CA738567 |
375 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs775370186 CA738566 |
375 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763107393 CA738570 |
377 | A>E | No |
ClinGen ExAC gnomAD |
|
CA738571 rs763107393 |
377 | A>G | No |
ClinGen ExAC gnomAD |
|
rs1263904658 CA339627596 |
378 | N>D | No |
ClinGen TOPMed |
|
rs1420624436 CA339627605 |
378 | N>S | No |
ClinGen TOPMed gnomAD |
|
CA339627617 rs1412159063 |
379 | I>V | No |
ClinGen TOPMed gnomAD |
|
CA738572 rs751728717 |
380 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA738573 rs759805893 |
381 | P>A | No |
ClinGen ExAC gnomAD |
|
rs767714580 CA738574 |
381 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753123679 CA738575 |
382 | V>M | No |
ClinGen ExAC gnomAD |
|
CA339627677 rs377121386 |
384 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1324183850 CA339627831 |
393 | R>C | No |
ClinGen gnomAD |
|
CA339627834 rs1205083302 |
393 | R>H | No |
ClinGen gnomAD |
|
CA738581 rs745454560 |
394 | T>A | No |
ClinGen ExAC gnomAD |
|
rs779674597 COSM384181 CA738583 |
399 | A>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs1231724300 CA339628018 |
403 | T>S | No |
ClinGen gnomAD |
|
rs776700683 CA738586 |
404 | N>S | No |
ClinGen ExAC gnomAD |
|
CA339628116 rs1178727836 COSM232647 |
408 | G>R | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs770852785 CA738588 |
411 | P>S | No |
ClinGen ExAC gnomAD |
|
CA339628882 rs1225461088 |
417 | L>Q | No |
ClinGen TOPMed |
|
CA738610 rs772091470 |
422 | C>F | No |
ClinGen ExAC gnomAD |
|
CA738611 rs775674111 |
424 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1212513529 CA339629022 |
427 | C>S | No |
ClinGen TOPMed gnomAD |
|
rs1557487789 CA339629159 |
435 | S>L | No |
ClinGen Ensembl |
|
CA738616 rs765746124 |
443 | N>S | No |
ClinGen ExAC gnomAD |
|
CA738618 rs369321250 |
450 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA738617 rs750942954 |
450 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA738619 rs766056787 |
452 | G>* | No |
ClinGen ExAC |
|
rs1163113362 CA339630216 |
456 | G>C | No |
ClinGen gnomAD |
|
rs1570080815 CA339630229 |
457 | K>R | No |
ClinGen Ensembl |
|
CA738620 rs373085364 |
458 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs142180334 CA738621 |
458 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA339630259 rs142180334 |
458 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs755898866 CA738624 |
463 | V>A | No |
ClinGen ExAC gnomAD |
|
rs747983431 CA339630372 |
463 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755898866 CA20226013 |
463 | V>G | No |
ClinGen ExAC gnomAD |
|
rs747983431 CA738623 |
463 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA20226019 rs986562181 |
465 | P>R | No |
ClinGen TOPMed |
|
CA339630573 rs1459849436 |
470 | I>V | No |
ClinGen TOPMed |
|
rs1294222394 CA339630641 |
473 | A>P | No |
ClinGen TOPMed |
|
CA339630636 rs1294222394 |
473 | A>T | No |
ClinGen TOPMed |
|
CA738625 rs777743002 |
474 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs1041981237 CA20226363 |
478 | K>T | No |
ClinGen TOPMed |
|
CA738645 rs753742692 |
489 | E>K | No |
ClinGen ExAC gnomAD |
|
CA339631214 rs1457398779 |
495 | F>L | No |
ClinGen TOPMed |
|
CA339631226 rs1260792850 COSM275786 |
496 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1570082097 CA339631287 |
498 | I>T | No |
ClinGen Ensembl |
|
rs370945671 CA738647 |
500 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1289756756 CA339631451 |
505 | E>D | No |
ClinGen gnomAD |
|
rs201663407 COSM1341784 CA738649 |
507 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs781380097 CA738650 |
509 | S>N | No |
ClinGen ExAC |
|
CA20226428 rs903462510 |
510 | S>I | No |
ClinGen TOPMed gnomAD |
|
CA339631628 rs1206601526 |
514 | Q>R | No |
ClinGen Ensembl |
|
CA339631639 rs1407608161 |
515 | V>I | No |
ClinGen gnomAD |
|
rs773466240 CA738653 |
516 | D>N | No |
ClinGen ExAC gnomAD |
|
rs997693505 CA20226457 |
518 | T>M | No |
ClinGen TOPMed gnomAD |
|
rs763471896 CA738654 |
518 | T>P | No |
ClinGen ExAC gnomAD |
|
rs759093362 CA738657 |
520 | Q>* | No |
ClinGen ExAC gnomAD |
|
CA339631750 rs759093362 |
520 | Q>K | No |
ClinGen ExAC gnomAD |
|
rs752387863 CA738659 |
523 | I>V | No |
ClinGen ExAC gnomAD |
|
rs763890077 CA738661 |
529 | A>D | No |
ClinGen ExAC gnomAD |
|
rs763890077 CA20226508 |
529 | A>G | No |
ClinGen ExAC gnomAD |
|
rs1570082319 CA339631978 |
531 | M>R | No |
ClinGen Ensembl |
|
rs867039862 CA20226516 |
531 | M>V | No |
ClinGen TOPMed gnomAD |
|
CA339631991 rs1212234390 |
532 | E>G | No |
ClinGen TOPMed |
|
rs1486310156 CA339632023 |
534 | F>L | No |
ClinGen gnomAD |
|
rs1206726760 CA339632027 |
535 | Q>* | No |
ClinGen TOPMed gnomAD |
|
rs1206726760 CA339632024 |
535 | Q>K | No |
ClinGen TOPMed gnomAD |
|
rs1266472191 CA339632032 |
535 | Q>R | No |
ClinGen TOPMed gnomAD |
|
rs1008018378 CA20226524 |
537 | L>Q | No |
ClinGen TOPMed |
No associated diseases with O60684
9 regional properties for O60684
Type | Name | Position | InterPro Accession |
---|---|---|---|
repeat | Armadillo | 112 - 196 | IPR000225-1 |
repeat | Armadillo | 197 - 239 | IPR000225-2 |
repeat | Armadillo | 242 - 281 | IPR000225-3 |
repeat | Armadillo | 283 - 323 | IPR000225-4 |
repeat | Armadillo | 325 - 367 | IPR000225-5 |
repeat | Armadillo | 367 - 407 | IPR000225-6 |
repeat | Armadillo | 410 - 450 | IPR000225-7 |
domain | Importin-alpha, importin-beta-binding domain | 1 - 102 | IPR002652 |
repeat | Atypical Arm repeat | 464 - 513 | IPR032413 |
6 GO annotations of cellular component
Name | Definition |
---|---|
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
host cell | A cell within a host organism. Includes the host plasma membrane and any external encapsulating structures such as the host cell wall and cell envelope. |
membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
NLS-dependent protein nuclear import complex | A dimer consisting of an alpha and a beta-subunit that imports proteins with an NLS into the nucleus through a nuclear pore. |
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. |
2 GO annotations of molecular function
Name | Definition |
---|---|
nuclear import signal receptor activity | Combining with a nuclear import signal (NIS) on a cargo to be transported, to mediate transport of the cargo through the nuclear pore, from the cytoplasm to the nuclear lumen. The cargo can be either a RNA or a protein. |
nuclear localization sequence binding | Binding to a nuclear localization sequence, a specific peptide sequence that acts as a signal to localize the protein within the nucleus. |
7 GO annotations of biological process
Name | Definition |
---|---|
entry of viral genome into host nucleus through nuclear pore complex via importin | Viral penetration into the host nucleus where the viral genome passes through the nuclear pore complex (NPC) using the cellular importin transport machinery. |
maternal process involved in female pregnancy | A reproductive process occurring in the mother that allows an embryo or fetus to develop within it. |
NLS-bearing protein import into nucleus | The directed movement of a protein bearing a nuclear localization signal (NLS) from the cytoplasm into the nucleus, across the nuclear envelope. |
positive regulation of cytokine production involved in inflammatory response | Any process that activates or increases the frequency, rate or extent of cytokine production involved in inflammatory response. |
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. |
positive regulation of viral life cycle | Any process that activates or increases the frequency, rate or extent of viral life cycle. |
viral genome replication | Any process involved directly in viral genome replication, including viral nucleotide metabolism. |
30 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q02821 | SRP1 | Importin subunit alpha | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | SS |
C1JZ66 | KPNA7 | Importin subunit alpha-8 | Bos taurus (Bovine) | PR |
A2VE08 | KPNA1 | Importin subunit alpha-5 | Bos taurus (Bovine) | SS |
Q0V7M0 | KPNA6 | Importin subunit alpha-7 | Bos taurus (Bovine) | SS |
Q5ZML1 | KPNA1 | Importin subunit alpha-5 | Gallus gallus (Chicken) | SS |
P52295 | Pen | Importin subunit alpha | Drosophila melanogaster (Fruit fly) | SS |
A9QM74 | KPNA7 | Importin subunit alpha-8 | Homo sapiens (Human) | EV |
O00505 | KPNA3 | Importin subunit alpha-4 | Homo sapiens (Human) | SS |
O00629 | KPNA4 | Importin subunit alpha-3 | Homo sapiens (Human) | SS |
O15131 | KPNA5 | Importin subunit alpha-6 | Homo sapiens (Human) | SS |
P52292 | KPNA2 | Importin subunit alpha-1 | Homo sapiens (Human) | EV |
P52294 | KPNA1 | Importin subunit alpha-5 | Homo sapiens (Human) | SS |
P52293 | Kpna2 | Importin subunit alpha-1 | Mus musculus (Mouse) | EV |
O35344 | Kpna3 | Importin subunit alpha-4 | Mus musculus (Mouse) | SS |
O35343 | Kpna4 | Importin subunit alpha-3 | Mus musculus (Mouse) | SS |
C0LLJ0 | Kpna7 | Importin subunit alpha-8 | Mus musculus (Mouse) | SS |
O35345 | Kpna6 | Importin subunit alpha-7 | Mus musculus (Mouse) | PR |
Q60960 | Kpna1 | Importin subunit alpha-5 | Mus musculus (Mouse) | SS |
C6K7I2 | KPNA7 | Importin subunit alpha-8 | Sus scrofa (Pig) | SS |
P83953 | Kpna1 | Importin subunit alpha-5 | Rattus norvegicus (Rat) | SS |
Q56R16 | Kpna5 | Importin subunit alpha-6 | Rattus norvegicus (Rat) | SS |
Q71VM4 | Os01g0253300 | Importin subunit alpha-1a | Oryza sativa subsp. japonica (Rice) | SS |
P91276 | ima-2 | Importin subunit alpha-2 | Caenorhabditis elegans | SS |
Q19969 | ima-3 | Importin subunit alpha-3 | Caenorhabditis elegans | SS |
O04294 | IMPA3 | Importin subunit alpha-3 | Arabidopsis thaliana (Mouse-ear cress) | SS |
Q9FJ09 | IMPA5 | Importin subunit alpha-5 | Arabidopsis thaliana (Mouse-ear cress) | SS |
Q9M9X7 | IMPA7 | Importin subunit alpha-7 | Arabidopsis thaliana (Mouse-ear cress) | SS |
Q9FWY7 | IMPA6 | Importin subunit alpha-6 | Arabidopsis thaliana (Mouse-ear cress) | SS |
O22478 | Importin subunit alpha | Solanum lycopersicum (Tomato) (Lycopersicon esculentum) | SS | |
Q503E9 | kpna5 | Importin subunit alpha-6 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
10 | 20 | 30 | 40 | 50 | 60 |
METMASPGKD | NYRMKSYKNN | ALNPEEMRRR | REEEGIQLRK | QKREQQLFKR | RNVELINEEA |
70 | 80 | 90 | 100 | 110 | 120 |
AMFDSLLMDS | YVSSTTGESV | ITREMVEMLF | SDDSDLQLAT | TQKFRKLLSK | EPSPPIDEVI |
130 | 140 | 150 | 160 | 170 | 180 |
NTPRVVDRFV | EFLKRNENCT | LQFEAAWALT | NIASGTSQQT | KIVIEAGAVP | IFIELLNSDF |
190 | 200 | 210 | 220 | 230 | 240 |
EDVQEQAVWA | LGNIAGDSSV | CRDYVLNCSI | LNPLLTLLTK | STRLTMTRNA | VWALSNLCRG |
250 | 260 | 270 | 280 | 290 | 300 |
KNPPPEFAKV | SPCLPVLSRL | LFSSDSDLLA | DACWALSYLS | DGPNEKIQAV | IDSGVCRRLV |
310 | 320 | 330 | 340 | 350 | 360 |
ELLMHNDYKV | ASPALRAVGN | IVTGDDIQTQ | VILNCSALPC | LLHLLSSPKE | SIRKEACWTI |
370 | 380 | 390 | 400 | 410 | 420 |
SNITAGNRAQ | IQAVIDANIF | PVLIEILQKA | EFRTRKEAAW | AITNATSGGT | PEQIRYLVSL |
430 | 440 | 450 | 460 | 470 | 480 |
GCIKPLCDLL | TVMDSKIVQV | ALNGLENILR | LGEQEGKRSG | SGVNPYCGLI | EEAYGLDKIE |
490 | 500 | 510 | 520 | 530 | |
FLQSHENQEI | YQKAFDLIEH | YFGVEDDDSS | LAPQVDETQQ | QFIFQQPEAP | MEGFQL |