P52294
Gene name |
KPNA1 (RCH2) |
Protein name |
Importin subunit alpha-5 |
Names |
SCFR, Piebald trait protein, PBT, Proto-oncogene c-Kit, Tyrosine-protein kinase Kit, p145 c-kit, v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog, Karyopherin subunit alpha-1, Nucleoprotein interactor 1, NPI-1, RAG cohort protein 2, SRP1-beta |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3836 |
EC number |
|
Protein Class |
|

Descriptions
Autoinhibitory domains (AIDs)
Target domain |
114-515 (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

5 structures for P52294
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
2JDQ | X-ray | 220 A | A/B | 66-512 | PDB |
3TJ3 | X-ray | 270 A | A/B | 66-512 | PDB |
4B18 | X-ray | 252 A | A | 66-512 | PDB |
6WX9 | X-ray | 280 A | A | 73-538 | PDB |
AF-P52294-F1 | Predicted | AlphaFoldDB |
222 variants for P52294
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA354173217 rs1559755041 |
9 | F>I | No |
ClinGen Ensembl |
|
rs1366468624 CA354173207 |
9 | F>S | No |
ClinGen TOPMed |
|
rs1007278639 COSM202963 CA82793410 |
10 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA354173168 rs1245476506 |
12 | K>Q | No |
ClinGen gnomAD |
|
CA354173158 rs1395445484 |
12 | K>R | No |
ClinGen TOPMed |
|
rs748913434 CA82793403 |
13 | S>T | No |
ClinGen Ensembl |
|
rs371255339 CA2571096 |
14 | Y>* | No |
ClinGen ESP ExAC gnomAD |
|
rs748617707 CA2571094 |
16 | N>S | No |
ClinGen ExAC gnomAD |
|
rs748617707 CA82793390 |
16 | N>T | No |
ClinGen ExAC gnomAD |
|
CA354172987 rs1377270559 |
21 | P>A | No |
ClinGen gnomAD |
|
rs1296470858 CA354172978 |
21 | P>L | No |
ClinGen TOPMed |
|
rs1443873785 CA354172972 |
22 | D>N | No |
ClinGen gnomAD |
|
rs1398957671 CA354172904 |
25 | R>C | No |
ClinGen gnomAD |
|
CA354172871 rs1298039703 |
27 | R>K | No |
ClinGen gnomAD |
|
rs1392446808 CA354172805 |
30 | E>G | No |
ClinGen TOPMed |
|
CA354172781 rs1278018384 |
31 | E>G | No |
ClinGen gnomAD |
|
rs1450402782 CA354172730 |
34 | Q>* | No |
ClinGen gnomAD |
|
CA82793347 rs977703329 |
34 | Q>H | No |
ClinGen TOPMed gnomAD |
|
rs1354135656 CA354172686 |
36 | R>Q | No |
ClinGen TOPMed |
|
rs1165031085 CA354165601 |
45 | F>C | No |
ClinGen TOPMed |
|
CA354165605 rs1199757102 |
45 | F>L | No |
ClinGen gnomAD |
|
rs1419253160 CA354165594 |
46 | K>R | No |
ClinGen TOPMed |
|
rs1434807039 CA354165588 COSM1037145 |
47 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1265244880 CA354165570 |
50 | V>I | No |
ClinGen TOPMed gnomAD |
|
CA2571072 COSM1616800 rs147411710 |
52 | T>I | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs1473598243 CA354165553 |
53 | A>S | No |
ClinGen gnomAD |
|
CA2571071 rs776559438 |
54 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA354165540 rs1392330060 |
55 | E>Q | No |
ClinGen TOPMed |
|
CA2571070 rs766198475 |
57 | T>S | No |
ClinGen ExAC |
|
rs760748553 CA2571068 |
60 | E>V | No |
ClinGen ExAC gnomAD |
|
rs771734934 CA354165488 |
62 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771734934 CA354165487 |
62 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771734934 CA2571065 |
62 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2571066 rs376809268 |
62 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA354165470 rs1216337317 |
64 | D>E | No |
ClinGen gnomAD |
|
rs1299772157 CA354165473 |
64 | D>G | No |
ClinGen gnomAD |
|
rs774157849 CA2571063 |
68 | H>R | No |
ClinGen ExAC gnomAD |
|
CA354165369 rs4678193 |
73 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs4678193 VAR_050002 CA2571062 |
73 | S>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA354165371 rs4678193 |
73 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1384575990 CA354165331 |
75 | M>I | No |
ClinGen gnomAD |
|
CA354165334 rs1278219654 |
75 | M>T | No |
ClinGen TOPMed |
|
rs1281829451 CA354165343 |
75 | M>V | No |
ClinGen TOPMed gnomAD |
|
CA82769768 rs919044782 |
77 | M>I | No |
ClinGen Ensembl |
|
CA354165302 rs1440873553 |
77 | M>V | No |
ClinGen TOPMed |
|
CA354165272 rs1467611873 |
78 | A>V | No |
ClinGen gnomAD |
|
rs749610817 CA2571061 |
79 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749610817 CA82769758 |
79 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA354164980 rs1458590147 |
81 | G>D | No |
ClinGen gnomAD |
|
CA2571034 rs747062327 |
81 | G>R | No |
ClinGen ExAC gnomAD |
|
CA354164955 rs1406308896 |
85 | S>Y | No |
ClinGen gnomAD |
|
rs777960890 CA2571032 |
88 | I>T | No |
ClinGen ExAC gnomAD |
|
CA2571031 rs758503638 |
89 | E>G | No |
ClinGen ExAC |
|
rs148747467 CA2571030 |
91 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1311619259 CA354164843 |
91 | I>M | No |
ClinGen Ensembl |
|
rs755983475 CA2571028 |
94 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1380902025 CA354164783 |
96 | P>A | No |
ClinGen gnomAD |
|
CA2571027 rs750299072 |
99 | Q>* | No |
ClinGen ExAC gnomAD |
|
CA354164707 rs1402583431 |
101 | S>L | No |
ClinGen gnomAD |
|
rs767556130 CA2571026 |
103 | T>I | No |
ClinGen ExAC gnomAD |
|
CA354164678 rs1409319585 |
104 | Q>E | No |
ClinGen gnomAD |
|
CA354164186 rs1477987119 |
115 | N>S | No |
ClinGen TOPMed |
|
rs759237459 CA2570994 |
118 | I>V | No |
ClinGen ExAC |
|
rs77145751 CA82765233 |
119 | D>A | No |
ClinGen Ensembl |
|
rs766764778 CA2570992 |
122 | I>V | No |
ClinGen ExAC gnomAD |
|
CA354164133 rs1576309261 |
123 | S>T | No |
ClinGen Ensembl |
|
rs1282209759 CA354164124 |
124 | T>I | No |
ClinGen gnomAD |
|
rs761024788 CA2570991 |
127 | V>I | No |
ClinGen ExAC gnomAD |
|
CA354164086 rs1345837457 |
131 | F>L | No |
ClinGen TOPMed gnomAD |
|
rs772509476 CA2570989 |
134 | F>L | No |
ClinGen ExAC gnomAD |
|
rs1298649358 CA354164043 |
137 | R>* | No |
ClinGen TOPMed gnomAD |
|
rs1400654022 COSM1037139 CA354164042 |
137 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
CA354164036 rs1316779695 |
138 | K>T | No |
ClinGen TOPMed |
|
CA354164031 rs1007284107 |
139 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA82765223 rs1007284107 |
139 | E>Q | No |
ClinGen TOPMed gnomAD |
|
CA354164013 rs773610445 |
141 | C>S | No |
ClinGen ExAC gnomAD |
|
CA2570987 rs773610445 |
141 | C>Y | No |
ClinGen ExAC gnomAD |
|
rs1376923123 CA354189717 |
156 | S>L | No |
ClinGen gnomAD |
|
CA354189651 rs1349514246 |
161 | Q>H | No |
ClinGen TOPMed |
|
CA2570964 rs746790022 |
163 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2570963 rs777480696 |
164 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1437578416 CA354189586 |
165 | V>A | No |
ClinGen gnomAD |
|
CA354189524 rs1367853255 |
168 | A>T | No |
ClinGen gnomAD |
|
CA354189247 rs1560029680 |
181 | E>Q | No |
ClinGen Ensembl |
|
rs1417215460 CA354189166 |
184 | D>H | No |
ClinGen gnomAD |
|
CA354189124 rs1191732792 |
186 | Q>L | No |
ClinGen gnomAD |
|
rs1226877931 CA354188357 |
189 | A>V | No |
ClinGen gnomAD |
|
CA354188347 rs1169648359 |
190 | V>A | No |
ClinGen TOPMed |
|
CA354188146 rs1281751321 |
202 | M>T | No |
ClinGen TOPMed gnomAD |
|
rs142101334 CA2570939 |
202 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1560027975 CA354188131 |
203 | C>S | No |
ClinGen Ensembl |
|
rs748761403 CA2570938 |
205 | D>H | No |
ClinGen ExAC gnomAD |
|
rs1330826298 CA354188069 |
206 | Y>C | No |
ClinGen TOPMed |
|
CA2570937 rs763240529 |
209 | D>A | No |
ClinGen ExAC gnomAD |
|
CA2570936 rs755745102 |
211 | N>S | No |
ClinGen ExAC gnomAD |
|
rs138305574 CA2570934 |
212 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2570933 rs757709546 |
214 | P>L | No |
ClinGen ExAC gnomAD |
|
rs764664928 CA2570931 |
215 | P>R | No |
ClinGen ExAC gnomAD |
|
rs145892619 CA2570932 |
215 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs775027981 CA2570916 COSM294510 |
225 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
COSM167717 CA354187647 rs1189764467 |
225 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
CA2570915 rs769193108 |
227 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1461057765 CA354187602 |
228 | M>I | No |
ClinGen gnomAD |
|
CA354187611 rs1461152078 |
228 | M>T | No |
ClinGen gnomAD |
|
CA354187563 rs1368635760 |
230 | R>Q | No |
ClinGen gnomAD |
|
rs376884067 CA2570913 COSM581017 |
232 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
CA82803539 rs965581622 |
232 | A>V | No |
ClinGen Ensembl |
|
rs758932130 CA2570909 |
250 | A>E | No |
ClinGen ExAC gnomAD |
|
rs751263599 CA2570884 |
253 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753844419 CA354186218 |
254 | P>A | No |
ClinGen ExAC gnomAD |
|
CA2570883 rs753844419 |
254 | P>S | No |
ClinGen ExAC gnomAD |
|
CA354186181 rs1298459730 |
255 | C>F | No |
ClinGen TOPMed gnomAD |
|
CA354186188 rs1298459730 |
255 | C>Y | No |
ClinGen TOPMed gnomAD |
|
CA82802024 rs996436531 |
258 | V>L | No |
ClinGen Ensembl |
|
CA354185764 rs1257791130 |
268 | T>S | No |
ClinGen gnomAD |
|
rs750649549 CA2570880 |
269 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1336550136 CA354185746 |
270 | V>I | No |
ClinGen TOPMed |
|
CA354185660 rs1576297088 |
273 | D>G | No |
ClinGen Ensembl |
|
rs1004886057 CA82802014 |
274 | A>S | No |
ClinGen Ensembl |
|
rs112486731 CA82802013 |
274 | A>V | No |
ClinGen Ensembl |
|
rs1448754153 CA354185345 |
286 | N>D | No |
ClinGen gnomAD |
|
COSM1327935 rs1336879899 CA354185338 |
286 | N>S | ovary urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
CA2570874 rs142297776 |
291 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs759538799 CA2570873 |
291 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2570869 rs370054725 |
293 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA354185133 rs1165745415 |
294 | D>A | No |
ClinGen TOPMed |
|
rs754140846 CA2570867 |
294 | D>N | No |
ClinGen ExAC gnomAD |
|
CA354185096 rs764619803 |
295 | A>E | No |
ClinGen TOPMed |
|
COSM202960 rs764619803 CA82801938 |
295 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
rs1460475197 CA354185076 |
296 | G>E | No |
ClinGen TOPMed |
|
CA82801898 rs946675946 |
301 | L>R | No |
ClinGen Ensembl |
|
rs916719788 CA82801879 |
302 | V>A | No |
ClinGen TOPMed |
|
rs1374849017 CA354183233 |
306 | M>I | No |
ClinGen TOPMed gnomAD |
|
CA354182787 rs1358942940 |
307 | H>R | No |
ClinGen gnomAD |
|
rs769071901 CA2570845 COSM3800952 |
314 | S>C | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1245099582 CA354182591 |
323 | I>V | No |
ClinGen gnomAD |
|
CA82796146 rs902688762 |
329 | I>T | No |
ClinGen Ensembl |
|
rs1233219727 CA354182443 |
332 | Q>E | No |
ClinGen gnomAD |
|
rs1317026712 CA354181322 |
334 | I>V | No |
ClinGen gnomAD |
|
CA354181218 rs1299894273 |
338 | S>L | No |
ClinGen TOPMed |
|
rs1226031500 CA354181235 |
338 | S>P | No |
ClinGen gnomAD |
|
rs770263765 CA2570822 |
341 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA82792261 rs746404486 |
345 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746404486 CA2570821 |
345 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2570818 rs747114336 |
349 | S>G | No |
ClinGen ExAC gnomAD |
|
CA82792228 rs778048711 |
349 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2570817 rs778048711 |
349 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA354180963 rs758586479 |
350 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758586479 CA2570816 |
350 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758586479 CA354180962 |
350 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA354180862 rs1417317248 |
355 | K>R | No |
ClinGen gnomAD |
|
COSM1037135 rs192240632 CA2570815 |
361 | T>M | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
CA354180662 rs1560018899 |
365 | I>T | No |
ClinGen Ensembl |
|
CA2570800 rs775792338 |
375 | T>S | No |
ClinGen ExAC gnomAD |
|
rs765590104 CA2570799 |
376 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1385536626 CA354179334 |
378 | D>V | No |
ClinGen gnomAD |
|
CA354179308 rs1256239369 |
380 | N>D | No |
ClinGen TOPMed |
|
CA2570797 rs777181799 |
380 | N>S | No |
ClinGen ExAC gnomAD |
|
CA2570798 rs777181799 |
380 | N>T | No |
ClinGen ExAC gnomAD |
|
CA2570796 rs777283799 |
381 | I>L | No |
ClinGen ExAC gnomAD |
|
rs899364282 CA82789317 |
382 | F>S | No |
ClinGen Ensembl |
|
rs760775587 CA354179174 |
384 | A>P | No |
ClinGen ExAC gnomAD |
|
CA2570795 rs760775587 |
384 | A>S | No |
ClinGen ExAC gnomAD |
|
CA2570794 rs773210024 |
385 | L>F | No |
ClinGen ExAC gnomAD |
|
rs1036850990 CA354179136 |
386 | I>S | No |
ClinGen TOPMed |
|
rs1036850990 CA82789314 |
386 | I>T | No |
ClinGen TOPMed |
|
rs1451340967 CA354179121 |
387 | S>N | No |
ClinGen TOPMed gnomAD |
|
CA2570793 rs772368222 |
392 | A>S | No |
ClinGen ExAC gnomAD |
|
rs748416546 CA2570792 |
393 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs1576277340 CA354178834 |
397 | R>I | No |
ClinGen Ensembl |
|
CA354178775 rs1560016713 |
399 | E>A | No |
ClinGen Ensembl |
|
CA82789273 rs15633 |
399 | E>Q | No |
ClinGen Ensembl |
|
CA2570788 rs781186250 |
400 | A>T | No |
ClinGen ExAC gnomAD |
|
rs937366386 CA82789242 |
403 | A>V | No |
ClinGen Ensembl |
|
rs751058951 CA354178673 |
404 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2570786 rs751058951 |
404 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1374980791 CA354178617 |
407 | A>P | No |
ClinGen TOPMed |
|
CA354178561 rs1403589287 |
409 | S>F | No |
ClinGen gnomAD |
|
rs752359638 CA2570782 |
413 | A>P | No |
ClinGen ExAC gnomAD |
|
CA354178479 rs1167881811 |
414 | E>Q | No |
ClinGen gnomAD |
|
CA2570759 rs778503343 |
418 | Y>S | No |
ClinGen ExAC gnomAD |
|
CA354176805 rs898848496 |
422 | L>M | No |
ClinGen TOPMed gnomAD |
|
CA2570758 rs754671094 |
423 | G>S | No |
ClinGen ExAC gnomAD |
|
rs754178190 CA2570757 |
424 | C>S | No |
ClinGen ExAC gnomAD |
|
rs1248209726 CA354176779 |
424 | C>Y | No |
ClinGen gnomAD |
|
CA2570756 rs766681413 |
427 | P>L | No |
ClinGen ExAC gnomAD |
|
CA2570755 rs369415466 |
433 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs768198808 CA2570753 |
435 | M>T | No |
ClinGen ExAC gnomAD |
|
rs1445122514 CA354176610 |
437 | S>C | No |
ClinGen Ensembl |
|
CA354176446 rs1274681317 |
449 | N>H | No |
ClinGen TOPMed gnomAD |
|
rs774614394 CA2570751 |
455 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1233464588 CA354176221 |
462 | G>S | No |
ClinGen gnomAD |
|
CA354176138 rs1163178056 |
466 | N>S | No |
ClinGen gnomAD |
|
CA354175947 rs148226308 |
476 | Y>* | No |
ClinGen ESP TOPMed gnomAD |
|
rs1560012389 CA354175777 |
482 | E>Q | No |
ClinGen Ensembl |
|
CA2570726 rs765559962 |
491 | E>A | No |
ClinGen ExAC gnomAD |
|
CA2570725 rs760354794 |
493 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs1323959968 CA354175408 |
496 | A>G | No |
ClinGen gnomAD |
|
rs1343782213 CA354175348 |
498 | D>E | No |
ClinGen gnomAD |
|
rs771945739 CA2570723 |
498 | D>Y | No |
ClinGen ExAC gnomAD |
|
rs1424038513 CA354175328 |
500 | I>V | No |
ClinGen TOPMed |
|
rs1432243136 CA354175228 |
505 | G>R | No |
ClinGen TOPMed gnomAD |
|
rs1432243136 CA354175229 |
505 | G>R | No |
ClinGen TOPMed gnomAD |
|
rs1560012324 CA354175067 |
510 | D>E | No |
ClinGen Ensembl |
|
CA354175082 rs1435064781 |
510 | D>Y | No |
ClinGen gnomAD |
|
rs969349638 CA82784200 |
511 | S>G | No |
ClinGen TOPMed |
|
rs1407294175 CA354175054 |
511 | S>I | No |
ClinGen TOPMed gnomAD |
|
CA354175028 rs1576267347 |
512 | S>N | No |
ClinGen Ensembl |
|
CA2570720 rs768068658 |
513 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1424642640 CA354174982 |
514 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA2570718 rs573159535 |
516 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA354174950 rs1246313419 |
517 | V>A | No |
ClinGen gnomAD |
|
rs746213432 CA2570716 |
523 | Q>* | No |
ClinGen ExAC gnomAD |
|
rs553380334 CA2570714 |
525 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1347770819 CA354174819 |
528 | Q>* | No |
ClinGen TOPMed |
|
CA354174815 rs1311427524 |
528 | Q>R | No |
ClinGen gnomAD |
|
rs752118749 CA2570713 |
531 | A>T | No |
ClinGen ExAC gnomAD |
|
CA354174745 rs15660 |
532 | P>S | No |
ClinGen TOPMed |
|
rs15660 CA82784171 |
532 | P>T | No |
ClinGen TOPMed |
|
CA2570712 rs200609980 |
533 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA354174711 rs1560012233 |
534 | E>K | No |
ClinGen Ensembl |
|
CA354174636 rs1339410269 |
538 | L>I | No |
ClinGen gnomAD |
No associated diseases with P52294
9 regional properties for P52294
Type | Name | Position | InterPro Accession |
---|---|---|---|
repeat | Armadillo | 114 - 198 | IPR000225-1 |
repeat | Armadillo | 200 - 241 | IPR000225-2 |
repeat | Armadillo | 244 - 283 | IPR000225-3 |
repeat | Armadillo | 285 - 325 | IPR000225-4 |
repeat | Armadillo | 327 - 369 | IPR000225-5 |
repeat | Armadillo | 369 - 409 | IPR000225-6 |
repeat | Armadillo | 412 - 452 | IPR000225-7 |
domain | Importin-alpha, importin-beta-binding domain | 1 - 104 | IPR002652 |
repeat | Atypical Arm repeat | 466 - 515 | IPR032413 |
9 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. |
dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
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. |
nuclear pore | A protein complex providing a discrete opening in the nuclear envelope of a eukaryotic cell, where the inner and outer nuclear membranes are joined. |
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. |
postsynaptic density | An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components. |
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 |
---|---|
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. |
postsynapse to nucleus signaling pathway | The series of molecular signals that conveys information from the postsynapse to the nucleus via cytoskeletal transport of a protein from a postsynapse to the component to the nucleus where it affects biochemical processes that occur in the nucleus (e.g DNA transcription, mRNA splicing, or DNA/histone modifications). |
regulation of apoptotic process | Any process that modulates the occurrence or rate of cell death by apoptotic process. |
regulation of canonical Wnt signaling pathway | Any process that modulates the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. |
regulation of DNA recombination | Any process that modulates the frequency, rate or extent of DNA recombination, a DNA metabolic process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. |
satellite cell activation involved in skeletal muscle regeneration | The process that initiates skeletal muscle satellite cell division by causing it to move from quiescence to the G1 stage of the cell cycle. The cell swells and there are a number of other small changes. The cells then start to divide. Following cell division the cells will differentiate. In adult muscle, satellite cells become activated to divide and differentiate in response to muscle damage. |
skeletal muscle satellite cell proliferation | The multiplication or reproduction of satellite cells, resulting in the expansion of the cell population. Satellite cells are quiescent cells that are located between the basal lamina and the plasmalemma of the muscle fiber, which are the main contributors to postnatal muscle growth. In adult muscle, satellite cells become activated to divide and differentiate in response to muscle damage. |
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 |
Q0V7M0 | KPNA6 | Importin subunit alpha-7 | Bos taurus (Bovine) | SS |
C1JZ66 | KPNA7 | Importin subunit alpha-8 | Bos taurus (Bovine) | PR |
A2VE08 | KPNA1 | Importin subunit alpha-5 | 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 |
O60684 | KPNA6 | Importin subunit alpha-7 | Homo sapiens (Human) | SS |
P52292 | KPNA2 | Importin subunit alpha-1 | Homo sapiens (Human) | EV |
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 |
Q56R16 | Kpna5 | Importin subunit alpha-6 | Rattus norvegicus (Rat) | SS |
P83953 | Kpna1 | Importin subunit alpha-5 | 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 |
MTTPGKENFR | LKSYKNKSLN | PDEMRRRREE | EGLQLRKQKR | EEQLFKRRNV | ATAEEETEEE |
70 | 80 | 90 | 100 | 110 | 120 |
VMSDGGFHEA | QISNMEMAPG | GVITSDMIEM | IFSKSPEQQL | SATQKFRKLL | SKEPNPPIDE |
130 | 140 | 150 | 160 | 170 | 180 |
VISTPGVVAR | FVEFLKRKEN | CTLQFESAWV | LTNIASGNSL | QTRIVIQAGA | VPIFIELLSS |
190 | 200 | 210 | 220 | 230 | 240 |
EFEDVQEQAV | WALGNIAGDS | TMCRDYVLDC | NILPPLLQLF | SKQNRLTMTR | NAVWALSNLC |
250 | 260 | 270 | 280 | 290 | 300 |
RGKSPPPEFA | KVSPCLNVLS | WLLFVSDTDV | LADACWALSY | LSDGPNDKIQ | AVIDAGVCRR |
310 | 320 | 330 | 340 | 350 | 360 |
LVELLMHNDY | KVVSPALRAV | GNIVTGDDIQ | TQVILNCSAL | QSLLHLLSSP | KESIKKEACW |
370 | 380 | 390 | 400 | 410 | 420 |
TISNITAGNR | AQIQTVIDAN | IFPALISILQ | TAEFRTRKEA | AWAITNATSG | GSAEQIKYLV |
430 | 440 | 450 | 460 | 470 | 480 |
ELGCIKPLCD | LLTVMDSKIV | QVALNGLENI | LRLGEQEAKR | NGTGINPYCA | LIEEAYGLDK |
490 | 500 | 510 | 520 | 530 | |
IEFLQSHENQ | EIYQKAFDLI | EHYFGTEDED | SSIAPQVDLN | QQQYIFQQCE | APMEGFQL |