AiPD: Autoinhibited Protein Database

O15131

Gene name	KPNA5
Protein name	Importin subunit alpha-6
Names	Karyopherin subunit alpha-5
Species	Homo sapiens (Human)
KEGG Pathway	hsa:3841
EC number
Protein Class

Descriptions

Importin subunit alpha functions in the nuclear transport of classical nuclear localization signal (cNLS)-containing cargo. The NLS binding site in importin alpha proteins may be autoinhibited by the N-terminal IBB domain.

Autoinhibitory domains (AIDs)

2-57 (IBB domain) SS

Target domain	116-513 (NLS-binding domain comprising armadillo (Arm) repeats)
Relief mechanism	Partner binding
Assay

AID

2-57 (IBB domain)

Target domain

116-513 (NLS-binding domain comprising armadillo (Arm) repeats)

Relief mechanism

Partner binding (importin-beta 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

2 structures for O15131

Entry ID	Method	Resolution	Chain	Position	Source
4U2X	X-ray	315 A	D/E/F	332-506	PDB
AF-O15131-F1	Predicted				AlphaFoldDB

350 variants for O15131

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA3971584 rs750307649	2	D>G		No	ClinGen ExAC gnomAD
CA145927300 rs778048358	3	A>T		No	ClinGen gnomAD
CA365389647 rs1340846919	3	A>V		No	ClinGen gnomAD
CA3971585 rs758269420	4	M>V		No	ClinGen ExAC
CA365389669 rs1381612898	5	A>T		No	ClinGen TOPMed gnomAD
CA365389684 rs1293400033	6	S>N		No	ClinGen gnomAD
CA365389711 rs1489376713	7	P>L		No	ClinGen gnomAD
rs747422546 CA145927306	9	K>R		No	ClinGen Ensembl
CA145927309 rs1056581233	10	D>H		No	ClinGen Ensembl
rs983484993 CA145927311	12	Y>C		No	ClinGen TOPMed gnomAD
CA365389805 rs1562427237	13	R>G		No	ClinGen Ensembl
CA3971591 rs369865783	14	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA3971590 rs369865783	14	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs756179244 CA3971589	14	M>L		No	ClinGen ExAC gnomAD
CA145927317 rs373328653	16	S>C		No	ClinGen ESP
rs137898003 CA3971592	16	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3971593 rs779399298	17	Y>C		No	ClinGen ExAC gnomAD
CA3971594 rs546622441	19	N>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1165581346 CA365389999	20	K>N		No	ClinGen gnomAD
CA3971595 rs772346763	21	A>T		No	ClinGen ExAC gnomAD
rs1411721721 CA365390021	22	L>R		No	ClinGen gnomAD
CA365390070 rs1317129417	24	P>L		No	ClinGen TOPMed
rs775169030 CA3971596	25	Q>*		No	ClinGen ExAC gnomAD
CA3971597 rs760289373	25	Q>R		No	ClinGen ExAC gnomAD
CA365390143 rs1361377784	27	M>I		No	ClinGen gnomAD
CA145927330 rs1044028225	27	M>V		No	ClinGen Ensembl
CA3971598 rs377032370	28	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs776342305 CA3971599	28	R>H		No	ClinGen ExAC TOPMed gnomAD
rs368851434 CA145927340	29	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs368851434 CA3971600	29	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs765196608 CA3971601	30	R>*		No	ClinGen ExAC gnomAD
COSM1072443 rs375939202 CA3971602	30	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1475582628 CA365390210	33	E>G		No	ClinGen TOPMed
CA365390300 rs1379874768	38	L>P		No	ClinGen gnomAD
rs1241907883 CA365390304	39	R>G		No	ClinGen gnomAD
CA365390307 rs1440517312	39	R>K		No	ClinGen gnomAD
CA365390360 rs1215611913	41	Q>P		No	ClinGen gnomAD
rs1259266266 CA365390378	42	K>E		No	ClinGen gnomAD
rs751581560 CA3971606	44	E>D		No	ClinGen ExAC gnomAD
rs535089219 CA145927351	44	E>Q		No	ClinGen 1000Genomes TOPMed gnomAD
rs1381216760 CA365390453	45	E>A		No	ClinGen gnomAD
rs1180563970 CA365390449	45	E>K		No	ClinGen gnomAD
CA365390485 rs1418714702	46	Q>H		No	ClinGen gnomAD
CA3971628 rs754083573	47	L>V		No	ClinGen ExAC gnomAD
rs1220939242 COSM1440002 COSM22107 CA365390959	48	F>L	large_intestine breast [Cosmic]	No	ClinGen cosmic curated gnomAD
rs750911121 CA3971631	50	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3971632 rs758890022	50	R>H		No	ClinGen ExAC TOPMed gnomAD
CA3971633 rs780465991	54	Y>C		No	ClinGen ExAC gnomAD
CA365391147 rs1266439034	57	R>G		No	ClinGen gnomAD
CA3971634 rs747273513	58	N>T		No	ClinGen ExAC gnomAD
CA3971636 rs780939609	59	D>E		No	ClinGen ExAC gnomAD
CA3971635 rs780540472	59	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1280115458 CA365391324	61	S>F		No	ClinGen TOPMed
CA365391308 rs1332803587	61	S>P		No	ClinGen TOPMed
rs1166275817 CA365391385	62	M>I		No	ClinGen gnomAD
CA365391342 rs1407764329	62	M>V		No	ClinGen TOPMed gnomAD
rs1406697724 CA365391441	63	L>P		No	ClinGen Ensembl
rs747829876 CA3971637	64	E>K		No	ClinGen ExAC gnomAD
CA145928222 rs959392668	64	E>V		No	ClinGen TOPMed
rs769393786 CA3971638	66	P>S		No	ClinGen ExAC gnomAD
rs1439028493 CA365391580	67	I>T		No	ClinGen TOPMed
rs772898117 CA3971639	67	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1350155142 CA365391591	68	Q>*		No	ClinGen TOPMed
CA3971641 rs770838480	69	D>H		No	ClinGen ExAC gnomAD
rs2243365 CA145928233	70	P>S		No	ClinGen Ensembl
CA145928240 rs909943843	71	D>Y		No	ClinGen TOPMed
rs1339276318 CA365391845	73	S>G		No	ClinGen gnomAD
rs1459504113 CA365391851	73	S>N		No	ClinGen TOPMed
rs1292103610 CA365391927	76	V>I		No	ClinGen gnomAD
rs140309737 CA365391962	77	P>H		No	ClinGen 1000Genomes ExAC gnomAD
CA145928251 rs140309737	77	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs140309737 CA3971644	77	P>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1477494149 CA365391995	78	I>M		No	ClinGen TOPMed
rs1221966460 CA365391986	78	I>T		No	ClinGen gnomAD
rs148338986 CA3971645	79	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA365392019 rs148338986	79	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA365392230 rs1562430356	82	E>G		No	ClinGen Ensembl
rs745858433 CA3971662	83	V>A		No	ClinGen ExAC gnomAD
rs1470303612 CA365392316	86	T>A		No	ClinGen gnomAD
CA365392336 rs1338172641	86	T>I		No	ClinGen gnomAD
rs141534226 CA3971663	87	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA365392444 rs1380811223	90	Q>H		No	ClinGen gnomAD
rs569469405 CA3971664	91	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA3971666 rs762021355	96	N>D		No	ClinGen ExAC gnomAD
rs769940045 CA3971667	96	N>T		No	ClinGen ExAC gnomAD
rs1562430457 CA365392808	98	D>V		No	ClinGen Ensembl
CA365392936 rs1433649888	102	T>R		No	ClinGen TOPMed
rs970955878 CA145928344	105	Q>K		No	ClinGen TOPMed
CA365393122 rs1240241466	110	L>P		No	ClinGen TOPMed
rs1348223929 CA365393171	113	K>E		No	ClinGen gnomAD
CA145930332 rs773247690	115	P>T		No	ClinGen gnomAD
CA365396391 rs1446229059	116	N>D		No	ClinGen TOPMed
CA365396492 rs1248056088	119	I>M		No	ClinGen gnomAD
rs1049436760 CA145930338	119	I>T		No	ClinGen TOPMed
CA365396463 rs1346626802	119	I>V		No	ClinGen TOPMed
CA365396536 rs1452972026	121	Q>E		No	ClinGen gnomAD
CA3971694 rs768067975	123	I>V		No	ClinGen ExAC gnomAD
CA3971695 rs753267951	126	P>S		No	ClinGen ExAC gnomAD
rs761082425 CA3971696	130	Q>H		No	ClinGen ExAC gnomAD
rs764561426 CA3971697	131	R>G		No	ClinGen ExAC gnomAD
CA365396769 rs1252441773	133	V>M		No	ClinGen Ensembl
CA365396833 rs1167393445	136	L>I		No	ClinGen gnomAD
rs990960830 CA145930353	139	N>S		No	ClinGen Ensembl
rs1303545536 CA365397041	143	T>A		No	ClinGen gnomAD
CA365397798 rs1362578625	147	E>*		No	ClinGen gnomAD
rs761313546 CA3971719	151	A>S		No	ClinGen ExAC gnomAD
CA3971720 rs764353470	151	A>V		No	ClinGen ExAC TOPMed gnomAD
CA365397997 rs1177519237	154	N>D		No	ClinGen TOPMed
CA3971722 rs144129030	158	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1219911500 CA365398167	159	T>N		No	ClinGen gnomAD
CA365398388 rs1486484932	164	K>E		No	ClinGen gnomAD
rs147245391 CA365398431	165	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs147245391 CA3971724	165	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs757860290 CA3971725	167	I>T		No	ClinGen ExAC gnomAD
rs1562437696 CA365398630	169	T>I		No	ClinGen Ensembl
CA365398660 rs1184274649	170	G>E		No	ClinGen gnomAD
CA145931356 rs201634087	173	P>L		No	ClinGen ExAC gnomAD
CA3971727 rs201634087	173	P>R		No	ClinGen ExAC gnomAD
CA145931352 rs201921590	173	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201921590 CA3971726	173	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3971729 rs377106027	177	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA917842046 rs1583417309	179	L>R		No	ClinGen Ensembl
CA3971731 rs755872504	183	H>D		No	ClinGen ExAC gnomAD
CA365399381 rs1224622438	184	E>D		No	ClinGen TOPMed
rs1335490359 CA365399409	185	D>V		No	ClinGen TOPMed gnomAD
rs779226679 CA3971732	189	Q>*		No	ClinGen ExAC gnomAD
CA3971733 rs746135023	189	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs943658867 CA145932041	190	A>G		No	ClinGen TOPMed
rs1175565940 CA365401214	191	V>F		No	ClinGen gnomAD
CA365401271 rs1411213737	192	W>C		No	ClinGen gnomAD
CA145932044 rs1042671649	192	W>G		No	ClinGen Ensembl
rs1583420628 CA365401332	194	L>I		No	ClinGen Ensembl
CA3971756 rs747056679	194	L>P		No	ClinGen ExAC gnomAD
CA365401337 rs747056679	194	L>R		No	ClinGen ExAC gnomAD
CA365401400 rs1460104679	197	I>T		No	ClinGen gnomAD
CA365401455 rs1306588094	199	G>V		No	ClinGen gnomAD
CA3971757 rs768643204	201	N>D		No	ClinGen ExAC gnomAD
rs530710631 CA3971758	201	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3971759 rs748639302	202	A>E		No	ClinGen ExAC gnomAD
rs1216521709 CA365401578	203	E>G		No	ClinGen Ensembl
CA365401621 rs1366093502	205	R>G		No	ClinGen gnomAD
CA3971760 rs140751697	209	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1273718021 CA365401793	209	L>S		No	ClinGen gnomAD
rs1273718021 CA365401796	209	L>W		No	ClinGen gnomAD
rs773620286 CA3971761	211	C>R		No	ClinGen ExAC gnomAD
rs762586559 CA3971762	214	L>V		No	ClinGen ExAC gnomAD
CA3971763 rs552057893	215	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA365401995 rs1200160713	215	P>T		No	ClinGen TOPMed
rs868691881 CA145936041	220	L>S		No	ClinGen Ensembl
CA365405139 rs759150352	220	L>V		No	ClinGen ExAC gnomAD
CA3971785 rs771599391	222	T>I		No	ClinGen ExAC TOPMed gnomAD
CA365405220 rs1239472977	223	N>K		No	ClinGen gnomAD
CA3971787 rs376042384	225	N>D		No	ClinGen ESP ExAC
rs143063528 CA3971788	227	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA3971790 rs761664956	229	T>I		No	ClinGen ExAC gnomAD
CA3971791 rs765167818	230	T>R		No	ClinGen ExAC gnomAD
CA3971792 rs751779393	232	N>D		No	ClinGen ExAC gnomAD
CA3971794 rs571235442	234	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752649100 CA3971795	236	A>V		No	ClinGen ExAC gnomAD
COSM3828881 rs778202771 CA365405494	238	S>*	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs778202771 CA3971797	238	S>L		No	ClinGen ExAC TOPMed gnomAD
CA365405511 rs1159495271	239	N>T		No	ClinGen gnomAD
rs369172691 CA3971798	240	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3971799 rs757586156	249	N>D		No	ClinGen ExAC gnomAD
CA3971800 rs779203734	249	N>T		No	ClinGen ExAC gnomAD
rs151204421 CA3971803	252	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs779479442 CA3971820	255	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1194837034 CA365407858	256	C>G		No	ClinGen gnomAD
CA365407870 rs146695349	257	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758816953 CA3971822	260	L>P		No	ClinGen ExAC gnomAD
CA3971823 rs779535240	262	R>*		No	ClinGen ExAC TOPMed gnomAD
CA365407931 rs746703820	262	R>L		No	ClinGen ExAC TOPMed gnomAD
COSM1072447 CA3971824 rs746703820	262	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA365407971 rs1479942631	265	F>L		No	ClinGen TOPMed
CA365407997 rs1168236240	267	S>N		No	ClinGen gnomAD
CA3971827 rs748089780	269	P>S		No	ClinGen ExAC TOPMed gnomAD
CA3971828 rs372745863	270	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA3971829 rs773212389	271	V>E		No	ClinGen ExAC gnomAD
CA3971830 rs762606088	273	A>V		No	ClinGen ExAC gnomAD
CA365408171 rs1226998533	280	S>F		No	ClinGen gnomAD
rs144173912 CA3971833	281	Y>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA365408221 rs1488451976	284	D>G		No	ClinGen gnomAD
CA3971835 rs376272457	284	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1264430932 CA365408233	285	G>E		No	ClinGen gnomAD
rs1447704130 CA365408239	286	P>T		No	ClinGen gnomAD
CA365408255 rs1202794139	287	N>D		No	ClinGen TOPMed
rs757374479 CA3971836	287	N>S		No	ClinGen ExAC TOPMed gnomAD
CA3971837 rs765614171	288	D>A		No	ClinGen ExAC gnomAD
CA3971838 rs750974753	290	I>V		No	ClinGen ExAC gnomAD
CA3971839 rs140804688	292	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3971840 rs780521296	292	A>V		No	ClinGen ExAC gnomAD
CA365408331 rs1241401702	293	V>I		No	ClinGen TOPMed
rs751248070 CA3971841	294	I>T		No	ClinGen ExAC gnomAD
rs1306351165 CA365408357	295	D>Y		No	ClinGen TOPMed
rs754741368 CA365408374	296	S>C		No	ClinGen ExAC TOPMed gnomAD
CA3971842 rs754741368	296	S>F		No	ClinGen ExAC TOPMed gnomAD
CA3971844 rs747601336	297	G>E		No	ClinGen ExAC TOPMed gnomAD
CA365408394 rs1583441356	298	V>D		No	ClinGen Ensembl
CA3971845 rs769366203	298	V>I		No	ClinGen ExAC TOPMed gnomAD
CA3971846 rs777530119	299	C>R		No	ClinGen ExAC gnomAD
CA3971847 rs111831361	299	C>S		No	ClinGen 1000Genomes ExAC gnomAD
CA145940062 rs111831361	299	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA3971848 rs770609599	300	R>*		No	ClinGen ExAC gnomAD
CA3971849 rs150107300	300	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA365408439 rs1263076932	302	L>S		No	ClinGen gnomAD
CA3971850 rs759331388	305	L>V		No	ClinGen ExAC TOPMed gnomAD
CA3971851 rs561751332	306	L>S		No	ClinGen 1000Genomes ExAC gnomAD
CA145941736 rs994297067	310	D>G		No	ClinGen Ensembl
CA365408795 rs1283860300	312	K>T		No	ClinGen TOPMed
rs769754061 CA3971872	314	V>L		No	ClinGen ExAC gnomAD
rs1179972268 CA365408970	320	A>E		No	ClinGen gnomAD
rs766930886 CA3971875	320	A>T		No	ClinGen ExAC TOPMed gnomAD
CA365408986 rs1431318669	321	V>A		No	ClinGen gnomAD
CA145941771 rs374768777	322	G>A		No	ClinGen ESP
CA365409068 rs1298877331	324	I>F		No	ClinGen TOPMed
rs1298877331 CA365409066	324	I>V		No	ClinGen TOPMed
CA365409085 rs1343962895	325	V>L		No	ClinGen TOPMed
CA365409148 rs1583443531	328	D>H		No	ClinGen Ensembl
CA365409158 rs1554257825	328	D>V		No	ClinGen Ensembl
CA3971877 rs759937153	330	I>M		No	ClinGen ExAC
rs752133060 COSM3783926 CA3971876	330	I>V	prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA145941788 rs1016690103	333	Q>*		No	ClinGen TOPMed
CA365409284 rs1367493912	333	Q>H		No	ClinGen gnomAD
rs760168299 CA3971895	334	V>I		No	ClinGen ExAC gnomAD
CA365410682 rs1368022624	335	I>V		No	ClinGen gnomAD
CA365410783 rs1437752200	338	C>Y		No	ClinGen gnomAD
COSM3828882 CA365410817 rs1274372670	339	S>C	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1216379634 CA365410846	340	A>V		No	ClinGen gnomAD
CA365410886 rs1193756349	342	P>R		No	ClinGen TOPMed
rs1298680856 CA365410880	342	P>S		No	ClinGen gnomAD
CA145942843 rs866854550	343	C>F		No	ClinGen Ensembl
rs367592456 CA3971896	344	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA365410941 rs1562454662	345	L>S		No	ClinGen Ensembl
CA3971897 rs148859917	346	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA365410976 rs1293598640	347	L>S		No	ClinGen gnomAD
CA365410988 rs1252316304	348	L>S		No	ClinGen TOPMed
CA3971899 rs763754068	350	S>I		No	ClinGen ExAC TOPMed gnomAD
CA3971900 rs753466371	353	E>K		No	ClinGen ExAC gnomAD
rs1303446036 CA365411198	355	I>S		No	ClinGen TOPMed
rs1188634999 CA365411282	359	A>D		No	ClinGen TOPMed gnomAD
rs756731619 CA3971901	359	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1562454725 CA365411372	362	T>S		No	ClinGen Ensembl
rs202184245 CA3971903	364	S>C		No	ClinGen 1000Genomes ExAC gnomAD
rs758400285 CA3971904	365	N>D		No	ClinGen ExAC gnomAD
rs1416363018 CA365411554	369	G>E		No	ClinGen gnomAD
rs1416363018 CA365411559	369	G>V		No	ClinGen gnomAD
rs1323533776 CA365411566	370	N>D		No	ClinGen gnomAD
rs143753509 CA145942934	370	N>S		No	ClinGen ESP TOPMed
CA145942910 rs143753509	370	N>T		No	ClinGen ESP TOPMed
CA365411633 rs1449358192	372	A>T		No	ClinGen TOPMed
rs1396921950 CA365411703	375	Q>*		No	ClinGen TOPMed
rs761061078 CA3971918	376	A>D		No	ClinGen ExAC TOPMed gnomAD
COSM1644722 rs775883659 CA3971917	376	A>S	salivary_gland [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
CA365411827 rs775883659	376	A>T		No	ClinGen ExAC TOPMed
rs1459230827 CA365411857	378	I>T		No	ClinGen gnomAD
rs764408309 CA3971919	379	D>G		No	ClinGen ExAC gnomAD
CA3971920 rs138510376	380	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs761514177 CA3971921	380	A>V		No	ClinGen ExAC gnomAD
CA145943545 rs144082164	381	N>I		No	ClinGen ESP ExAC gnomAD
CA3971922 rs144082164	381	N>S		No	ClinGen ESP ExAC gnomAD
CA365411903 rs749873134	382	I>L		No	ClinGen ExAC TOPMed gnomAD
CA3971923 rs749873134 COSM1697791	382	I>V	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs147305551 COSM109477 CA145943556	384	P>S	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA3971925 rs146906266	385	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA365411976 rs1375476125	387	I>M		No	ClinGen gnomAD
CA365411972 rs1417124785	387	I>T		No	ClinGen TOPMed
rs751480591 CA3971926	388	E>A		No	ClinGen ExAC TOPMed gnomAD
CA365412020 rs1326525232	391	Q>E		No	ClinGen gnomAD
CA3971927 rs375049783	391	Q>R		No	ClinGen ESP ExAC gnomAD
CA145943578 rs1016200852	396	R>C		No	ClinGen gnomAD
rs1441411932 CA365412128	399	K>R		No	ClinGen TOPMed gnomAD
rs1187296329 CA365412141	400	E>A		No	ClinGen TOPMed gnomAD
COSM202033 CA365412232 rs1473874846	406	T>S	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA365412254 rs1183585841	407	N>K		No	ClinGen gnomAD
CA3971930 rs200533053	409	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3971931 rs779281809	410	S>A		No	ClinGen ExAC gnomAD
rs1475467472 CA365412321	411	G>E		No	ClinGen TOPMed
COSM3828883 CA365412343 rs1424021953	412	G>D	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
rs371960802 CA3971932	413	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA145943631 rs774054697	414	P>A		No	ClinGen Ensembl
CA365412425 rs1403199489	416	Q>K		No	ClinGen gnomAD
rs1414076603 CA365412475	417	I>R		No	ClinGen gnomAD
CA3971933 rs772077016	418	R>M		No	ClinGen ExAC gnomAD
CA365414047 rs1388392255	419	Y>H		No	ClinGen gnomAD
rs1323679003 CA365414079	421	V>E		No	ClinGen gnomAD
CA365414074 rs1210468701	421	V>I		No	ClinGen TOPMed
rs750714483 CA3971953	424	G>C		No	ClinGen ExAC gnomAD
CA3971954 rs201622060	425	C>S		No	ClinGen 1000Genomes ExAC gnomAD
rs865866463 CA145946008	425	C>Y		No	ClinGen gnomAD
CA3971955 rs780057044	428	P>Q		No	ClinGen ExAC gnomAD
rs376838867 CA145946028	431	D>E		No	ClinGen ESP
CA3971956 rs747548828	431	D>N		No	ClinGen ExAC gnomAD
CA365414308 rs1266865874	434	T>I		No	ClinGen TOPMed
rs978655729 CA145946045	436	M>T		No	ClinGen TOPMed gnomAD
rs1212195833 CA365414355	437	D>Y		No	ClinGen gnomAD
CA365414398 rs1268645900	438	S>F		No	ClinGen gnomAD
rs1323060957 CA365414372	438	S>T		No	ClinGen TOPMed
CA365414402 rs1451171009	439	K>E		No	ClinGen gnomAD
CA365414444 rs1196836268	440	I>R		No	ClinGen gnomAD
rs1583448918 CA365414475	442	Q>P		No	ClinGen Ensembl
rs1167748827 CA365414555	446	N>S		No	ClinGen gnomAD
CA365414569 rs1395137176	447	G>R		No	ClinGen TOPMed
CA3971960 rs146135522	453	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3971961 rs548139437	453	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA365414809 rs1390018991	456	E>V		No	ClinGen TOPMed
rs772817489 CA3971962	457	Q>E		No	ClinGen ExAC gnomAD
CA145946084 rs917013129	459	S>C		No	ClinGen TOPMed gnomAD
rs1298222203 CA365414970	462	N>S		No	ClinGen TOPMed gnomAD
rs770458969 CA3971964	463	G>E		No	ClinGen ExAC gnomAD
CA365414975 rs1433854401	463	G>R		No	ClinGen gnomAD
rs1306174652 CA365415024	464	I>R		No	ClinGen gnomAD
rs773799032 CA3971965	466	I>V		No	ClinGen ExAC gnomAD
CA365415098 rs1266620166	467	N>S		No	ClinGen gnomAD
rs1370320105 CA365415166	470	C>R		No	ClinGen TOPMed
rs1444268932 CA365415225	472	L>V		No	ClinGen TOPMed
CA3971967 rs74502521	473	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1465537351 CA365415375	476	A>V		No	ClinGen gnomAD
CA3972016 rs763974311	479	L>R		No	ClinGen ExAC gnomAD
CA3972015 rs760750928	479	L>V		No	ClinGen ExAC gnomAD
CA365415657 rs1401989386	480	D>E		No	ClinGen gnomAD
rs761678328 CA3972018	480	D>N		No	ClinGen ExAC gnomAD
CA365415756 rs1290812417	487	S>N		No	ClinGen gnomAD
CA3972023 rs569920559	496	K>T		No	ClinGen ExAC gnomAD
rs1211138680 CA365415953	497	A>V		No	ClinGen gnomAD
rs557995008 COSM421103 CA3972024	500	L>V	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA145948246 rs1005515474	503	H>R		No	ClinGen TOPMed gnomAD
rs1482652796 CA365416093	508	E>G		No	ClinGen gnomAD
CA3972027 rs372857837	510	D>H		No	ClinGen ESP ExAC gnomAD
CA145948267 rs372857837	510	D>Y		No	ClinGen ESP ExAC gnomAD
COSM3941478 rs894586244 CA145948272	511	D>N	oesophagus [Cosmic]	No	ClinGen cosmic curated Ensembl
CA3972028 rs757663397	512	P>S		No	ClinGen ExAC gnomAD
CA365416126 rs1411029618	513	S>N		No	ClinGen TOPMed
rs1195325330 CA365416129	513	S>R		No	ClinGen TOPMed
CA3972029 rs573210507	514	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1310169149 CA365416150	517	Q>*		No	ClinGen gnomAD
rs745582344 CA3972030	519	D>G		No	ClinGen ExAC gnomAD
rs1409709612 CA365416172	520	E>K		No	ClinGen gnomAD
CA365416180 rs1216313382	521	N>D		No	ClinGen TOPMed
rs192935885 CA3972031	522	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs746519943 CA3972033	523	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs201316236 CA3972035	526	I>M		No	ClinGen ExAC TOPMed gnomAD
rs369915373 CA3972034	526	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs761470503 CA3972036	529	Q>E		No	ClinGen ExAC gnomAD
CA3972037 rs150841721	529	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs774418381 CA3972038	530	Q>R		No	ClinGen ExAC gnomAD
rs1482703713 CA365416258	532	A>T		No	ClinGen gnomAD
rs373135563 CA3972039	534	M>L		No	ClinGen ESP ExAC gnomAD
rs373135563 CA3972040	534	M>V		No	ClinGen ESP ExAC gnomAD
rs1341348023 CA365416277	535	D>Y		No	ClinGen TOPMed
CA3972041 rs558291176	539	L>V		No	ClinGen ExAC gnomAD

No associated diseases with O15131

10 regional properties for O15131

Type	Name	Position	InterPro Accession
repeat	Armadillo	116 - 157	IPR000225-1
repeat	Armadillo	159 - 203	IPR000225-2
repeat	Armadillo	201 - 242	IPR000225-3
repeat	Armadillo	245 - 284	IPR000225-4
repeat	Armadillo	286 - 326	IPR000225-5
repeat	Armadillo	328 - 368	IPR000225-6
repeat	Armadillo	370 - 410	IPR000225-7
repeat	Armadillo	413 - 453	IPR000225-8
domain	Importin-alpha, importin-beta-binding domain	1 - 105	IPR002652
repeat	Atypical Arm repeat	467 - 513	IPR032413

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
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.

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.

1 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.

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
O60684	KPNA6	Importin subunit alpha-7	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
MDAMASPGKD	NYRMKSYKNK	ALNPQEMRRR	REEEGIQLRK	QKREEQLFKR	RNVYLPRNDE
70	80	90	100	110	120
SMLESPIQDP	DISSTVPIPE	EEVVTTDMVQ	MIFSNNADQQ	LTATQKFRKL	LSKEPNPPID
130	140	150	160	170	180
QVIQKPGVVQ	RFVKFLERNE	NCTLQFEAAW	ALTNIASGTF	LHTKVVIETG	AVPIFIKLLN
190	200	210	220	230	240
SEHEDVQEQA	VWALGNIAGD	NAECRDFVLN	CEILPPLLEL	LTNSNRLTTT	RNAVWALSNL
250	260	270	280	290	300
CRGKNPPPNF	SKVSPCLNVL	SRLLFSSDPD	VLADVCWALS	YLSDGPNDKI	QAVIDSGVCR
310	320	330	340	350	360
RLVELLMHND	YKVVSPALRA	VGNIVTGDDI	QTQVILNCSA	LPCLLHLLSS	PKESIRKEAC
370	380	390	400	410	420
WTVSNITAGN	RAQIQAVIDA	NIFPVLIEIL	QKAEFRTRKE	AAWAITNATS	GGTPEQIRYL
430	440	450	460	470	480
VALGCIKPLC	DLLTVMDSKI	VQVALNGLEN	ILRLGEQESK	QNGIGINPYC	ALIEEAYGLD
490	500	510	520	530
KIEFLQSHEN	QEIYQKAFDL	IEHYFGVEED	DPSIVPQVDE	NQQQFIFQQQ	EAPMDGFQL