AiPD: Autoinhibited Protein Database

P52292

Gene name	KPNA2
Protein name	Importin subunit alpha-1
Names	Karyopherin subunit alpha-2, RAG cohort protein 1, SRP1-alpha
Species	Homo sapiens (Human)
KEGG Pathway	hsa:3838
EC number
Protein Class	IMPORTIN ALPHA (PTHR23316)

Descriptions

Importin subunit alpha functions in the nuclear transport of classical nuclear localization signal (cNLS)-containing cargo. Autoinhibition by the self-binding of IBB domain inhibits the NLS binding affinity by binding IBB domain to the NLS binding sites. In addition, the closed homodimerization works as an autoinhibition state when the IBB domain dissociates from the NLS binding sites. Association with importin-beta increases the affinity for NLSs.

Autoinhibitory domains (AIDs)

Target domain	108-509 (NLS-binding domain comprising armadillo (Arm) repeats)
Relief mechanism	Partner binding
Assay	Structural analysis, Deletion assay

AID

1-69 (importin-beta-binding domain)

Target domain

108-509 (NLS-binding domain comprising armadillo (Arm) repeats)

Relief mechanism

Partner binding (importin-beta binding)

Assay

Structural analysis, Deletion 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

Miyatake H et al. (2015) "Crystal structure of human importin-α1 (Rch1), revealing a potential autoinhibition mode involving homodimerization", PloS one, 10, e0115995

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

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

14 structures for P52292

Entry ID	Method	Resolution	Chain	Position	Source
1EFX	X-ray	300 A	C	204-212	PDB
1QGK	X-ray	250 A	B	11-54	PDB
1QGR	X-ray	230 A	B	28-54	PDB
3FEX	X-ray	355 A	C	70-529	PDB
3FEY	X-ray	220 A	C	70-529	PDB
3WPT	X-ray	263 A	A/B	75-497	PDB
4E4V	X-ray	253 A	A/B	70-529	PDB
4WV6	X-ray	175 A	A	60-529	PDB
5H43	X-ray	230 A	A	70-497	PDB
7CRU	X-ray	280 A	A/C	73-529	PDB
7N8J	X-ray	320 A	A	76-529	PDB
7N9H	X-ray	220 A	C	70-497	PDB
8FZK	X-ray	210 A	A/B/C/D	71-529	PDB
AF-P52292-F1	Predicted				AlphaFoldDB

390 variants for P52292

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1207439761 CA400740239	2	S>C		No	ClinGen TOPMed gnomAD
CA400740240 rs1207439761	2	S>F		No	ClinGen TOPMed gnomAD
CA400740246 rs1568274416	3	T>S		No	ClinGen Ensembl
CA400740251 rs1264090922	4	N>S		No	ClinGen TOPMed
rs782307043 CA8726842	5	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA8726843 rs781943842	8	N>S		No	ClinGen ExAC gnomAD
CA400740288 rs1273952577	9	T>K		No	ClinGen TOPMed
rs1555703862 CA400740293	10	P>L		No	ClinGen gnomAD
CA293265641 rs1017155887	10	P>S		No	ClinGen Ensembl
rs782439609 CA8726845	12	A>T		No	ClinGen ExAC gnomAD
CA8726846 rs781988170	13	R>C		No	ClinGen ExAC gnomAD
rs782141982 COSM35502 CA8726847	13	R>H	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs782516248 CA293265727	22	K>R		No	ClinGen TOPMed
rs782494596 CA8726853	23	D>G		No	ClinGen ExAC gnomAD
CA8726851 rs183061920	23	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8726852 rs183061920	23	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8726854 rs782777079	25	T>I		No	ClinGen ExAC gnomAD
rs562799533 CA8726884	27	M>I		No	ClinGen 1000Genomes ExAC gnomAD
rs782494077 CA8726883	27	M>T		No	ClinGen ExAC gnomAD
rs782272780 CA8726885 COSM312394	29	R>C	lung breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA400740429 rs1183012630	29	R>H		No	ClinGen TOPMed gnomAD
COSM393106 rs782413335 CA8726886	30	R>C	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA8726887 rs533117201	30	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs533117201 CA8726888	30	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400740444 rs1555703938	32	I>V		No	ClinGen gnomAD
rs782336201 CA8726889	34	V>I		No	ClinGen ExAC TOPMed gnomAD
CA293266047 rs376171602	35	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA8726890 rs376171602	35	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8726891 rs782053650	38	L>V		No	ClinGen ExAC gnomAD
CA8726892 rs782331723	40	K>E		No	ClinGen ExAC
CA400740578 rs1226497292	41	A>T		No	ClinGen TOPMed gnomAD
CA400740675 rs1355585695	46	Q>H		No	ClinGen TOPMed gnomAD
rs375584574 CA8726893	47	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA8726894 rs782170508	52	N>I		No	ClinGen ExAC gnomAD
CA8726895 rs782766705	53	V>I		No	ClinGen ExAC gnomAD
rs781875464 CA8726896	58	D>G		No	ClinGen ExAC gnomAD
CA400740925 rs1568274642	60	A>G		No	ClinGen Ensembl
CA400740910 rs1555703944	60	A>T		No	ClinGen gnomAD
rs782088901 CA8726897	61	T>A		No	ClinGen ExAC TOPMed gnomAD
CA400740932 rs782088901	61	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1555703945 CA400740965	62	S>F		No	ClinGen gnomAD
rs998368432 CA293266109	63	P>L		No	ClinGen TOPMed
rs781797273 CA8726899	68	R>C		No	ClinGen ExAC TOPMed gnomAD
CA400741165 rs781797273	68	R>G		No	ClinGen ExAC TOPMed gnomAD
COSM1212744 CA8726900 rs369989302	68	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA8726901 rs139792733	69	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs781855852 CA8726902	70	N>H		No	ClinGen ExAC gnomAD
CA8726903 rs782516472	70	N>S		No	ClinGen ExAC gnomAD
rs782607363 CA8726904	71	Q>K		No	ClinGen ExAC gnomAD
CA400741262 rs1167037164	71	Q>L		No	ClinGen TOPMed gnomAD
rs1167037164 CA400741259	71	Q>R		No	ClinGen TOPMed gnomAD
CA293268457 rs1013706330	73	T>S		No	ClinGen Ensembl
rs1230158410 CA400742084	74	V>I		No	ClinGen TOPMed gnomAD
CA8726929 rs782252102	78	V>A		No	ClinGen ExAC gnomAD
rs782692582 CA400742183	78	V>I		No	ClinGen ExAC gnomAD
rs782692582 CA8726928 COSM3958681	78	V>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA400742223 rs1354821697	79	D>V		No	ClinGen TOPMed
rs782525188 CA8726930	80	D>Y		No	ClinGen ExAC gnomAD
CA293268486 rs751873775	81	I>V		No	ClinGen Ensembl
CA8726932 rs782239692	85	I>M		No	ClinGen ExAC TOPMed gnomAD
CA400742402 rs1445573745	86	N>K		No	ClinGen TOPMed gnomAD
rs142064368 CA8726933	86	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782008195 CA8726934	88	S>N		No	ClinGen ExAC gnomAD
CA8726935 rs782284140	89	N>H		No	ClinGen ExAC gnomAD
CA293268500 rs367662280	91	E>G		No	ClinGen ESP
rs1324932026 CA400742525	93	Q>R		No	ClinGen TOPMed gnomAD
CA8726937 rs781995950	94	L>I		No	ClinGen ExAC gnomAD
rs782745109 CA8726939	97	T>I		No	ClinGen ExAC gnomAD
CA8726941 rs782062469	99	A>G		No	ClinGen ExAC TOPMed gnomAD
rs782809038 CA8726942	100	A>S		No	ClinGen ExAC gnomAD
rs1568276476 CA400743394	103	L>R		No	ClinGen Ensembl
CA400743417 rs1555704631	107	E>K		No	ClinGen gnomAD
CA400743416 rs1555704631	107	E>Q		No	ClinGen gnomAD
CA400743437 rs1555704633	109	Q>H		No	ClinGen gnomAD
CA8726962 rs782800935	109	Q>K		No	ClinGen ExAC gnomAD
rs889040300 CA293269238	110	P>H		No	ClinGen Ensembl
rs1228828679 CA400743450	112	I>V		No	ClinGen TOPMed
rs782014989 CA400743473	114	N>K		No	ClinGen ExAC gnomAD
rs782058532 CA8726964	115	I>V		No	ClinGen ExAC gnomAD
rs782694914 CA8726965	116	I>M		No	ClinGen ExAC gnomAD
rs148032855 CA8726967	117	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1559472 rs144637470 CA8726966	117	R>W	liver central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs782770581 CA8726968	118	A>T		No	ClinGen ExAC gnomAD
rs1555704639 CA400743497	119	G>D		No	ClinGen gnomAD
CA8726969 rs781908749	121	I>V		No	ClinGen ExAC gnomAD
rs1555704640 CA400743514	122	P>A		No	ClinGen gnomAD
rs782552934 CA8726970	122	P>L		No	ClinGen ExAC TOPMed gnomAD
CA400743517 rs782552934	122	P>R		No	ClinGen ExAC TOPMed gnomAD
CA8726972 rs781793354	123	K>R		No	ClinGen ExAC
CA400743526 rs1332088005	124	F>L		No	ClinGen TOPMed
CA8726973 rs782482566	125	V>M		No	ClinGen ExAC TOPMed gnomAD
rs782605504 CA8726974	126	S>F		No	ClinGen ExAC TOPMed gnomAD
rs372495891 CA293269327	129	G>S		No	ClinGen ESP TOPMed gnomAD
CA293269361 rs781877236	131	T>A		No	ClinGen Ensembl
rs764623934 CA293269367	131	T>I		No	ClinGen Ensembl
rs764623934 CA400743573	131	T>S		No	ClinGen Ensembl
rs200993285 CA8726977	134	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400743601 rs1555704647	135	P>L		No	ClinGen gnomAD
rs782271490 CA8726978	135	P>S		No	ClinGen ExAC gnomAD
rs782322521 CA8726979	136	I>T		No	ClinGen ExAC gnomAD
CA400743603 rs1443594499	136	I>V		No	ClinGen TOPMed
CA8726980 rs781914482	140	S>C		No	ClinGen ExAC gnomAD
rs782091914 CA8726981	143	A>V		No	ClinGen ExAC gnomAD
CA400743664 rs1555704649	145	T>A		No	ClinGen gnomAD
CA8726982 rs782339769	145	T>S		No	ClinGen ExAC gnomAD
rs781997941 CA8726983	148	A>D		No	ClinGen ExAC gnomAD
rs781809178 CA8726986	151	T>I		No	ClinGen ExAC gnomAD
rs782050518 CA8726987	153	E>*		No	ClinGen ExAC gnomAD
CA400743714 rs1555704652	153	E>G		No	ClinGen gnomAD
CA8726990 rs572482491	154	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
rs572482491 CA8726989	154	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
CA8726991 rs782636813	155	T>A		No	ClinGen ExAC
CA8726992 rs142601381	155	T>N		No	ClinGen 1000Genomes ExAC gnomAD
rs142601381 CA8726993	155	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1555704657 CA400743728	156	K>E		No	ClinGen gnomAD
CA293269421 rs17850032	157	A>V		No	ClinGen Ensembl
rs1238362684 CA400743746	159	V>I		No	ClinGen TOPMed
rs782572715 CA8726994	162	G>V		No	ClinGen ExAC gnomAD
rs11545989 CA8726995	165	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8726998 rs782250919	168	I>T		No	ClinGen ExAC gnomAD
CA8726997 rs372514650	168	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA400743815 rs1555704660	170	L>V		No	ClinGen Ensembl
CA400743830 rs1222209859	172	A>S		No	ClinGen TOPMed
rs1555704662 CA400743831	172	A>V		No	ClinGen gnomAD
rs1323489580 CA400743835	173	S>P		No	ClinGen TOPMed
CA8727000 rs782027707	175	H>R		No	ClinGen ExAC gnomAD
rs782624457 CA8727001	176	A>V		No	ClinGen ExAC gnomAD
CA400743858 rs1377405916	177	H>Y		No	ClinGen TOPMed gnomAD
rs1310201888 CA400743867	178	I>V		No	ClinGen TOPMed gnomAD
rs1555704668 CA400743904	182	A>V		No	ClinGen gnomAD
CA8727004 rs782084917	183	V>I		No	ClinGen ExAC gnomAD
rs1555704671 CA400743915	184	W>L		No	ClinGen gnomAD
CA8727006 rs781796285	189	I>V		No	ClinGen ExAC TOPMed gnomAD
CA400743982 rs1555704802	193	G>S		No	ClinGen gnomAD
rs1568276940 CA400743992	194	S>L		No	ClinGen Ensembl
CA8727035 rs782079246	199	L>F		No	ClinGen ExAC gnomAD
CA8727036 rs782764027	200	V>I		No	ClinGen ExAC gnomAD
CA400744055 rs1192008366	204	G>S		No	ClinGen TOPMed
rs200169734 CA293270028	205	A>V		No	ClinGen 1000Genomes
rs781799284 CA8727040	206	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1555704811 CA400744072	207	D>Y		No	ClinGen gnomAD
rs1555704815 CA400744080	208	P>S		No	ClinGen gnomAD
CA8727042 rs782604681	210	L>S		No	ClinGen ExAC gnomAD
rs782267149 CA8727043	211	A>V		No	ClinGen ExAC gnomAD
rs1555704823 CA400744113	214	A>T		No	ClinGen gnomAD
CA400744119 rs1201281305	215	V>I		No	ClinGen TOPMed
rs11545988 COSM3958682 CA8727045	216	P>S	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs11545988 CA8727046	216	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA293270080 rs17854798	217	D>E		No	ClinGen Ensembl
CA400744138 rs142968438	218	M>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA8727048 rs142968438	218	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs138446781 CA8727047	218	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400744148 rs1269451550	219	S>L		No	ClinGen TOPMed gnomAD
rs1383867982 CA400744152	220	S>Y		No	ClinGen TOPMed
rs1338971980 CA400744164	222	A>T		No	ClinGen TOPMed
rs1555704861 CA400744185	223	C>R		No	ClinGen gnomAD
rs782086048 CA8727077	225	Y>*		No	ClinGen ExAC gnomAD
CA400744199 rs1555704864	225	Y>H		No	ClinGen gnomAD
CA400744211 rs1555704866	226	L>F		No	ClinGen gnomAD
CA8727078 COSM1385448 rs782396125	227	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs782396125 CA400744213	227	R>G		No	ClinGen ExAC TOPMed gnomAD
CA400744214 rs1555704867	227	R>H		No	ClinGen gnomAD
rs1425643867 CA400744221	228	N>T		No	ClinGen TOPMed gnomAD
CA400744226 rs1555704870	229	L>F		No	ClinGen gnomAD
CA8727080 rs782168222	233	L>F		No	ClinGen ExAC gnomAD
CA8727081 rs782797109	234	S>C		No	ClinGen ExAC TOPMed gnomAD
CA8727082 rs781807796	235	N>S		No	ClinGen ExAC TOPMed gnomAD
CA400744266 rs781807796	235	N>T		No	ClinGen ExAC TOPMed gnomAD
CA293270270 rs200624474	236	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200624474 CA8727083	236	L>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400744275 rs1178484174	237	C>G		No	ClinGen TOPMed
rs1479386909 CA400744282	238	R>C		No	ClinGen TOPMed gnomAD
rs1555704877 CA400744284	238	R>H		No	ClinGen gnomAD
CA8727084 rs782735381	239	N>D		No	ClinGen ExAC gnomAD
rs1555704879 CA400744294	239	N>S		No	ClinGen gnomAD
rs1555704880 CA400744302	240	K>E		No	ClinGen gnomAD
rs1555704881 CA400744334	242	P>S		No	ClinGen gnomAD
rs11545987 CA293270280	244	P>L		No	ClinGen Ensembl
rs146139322 CA8727087	244	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146139322 CA8727086	244	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8727088 rs781899186	245	P>A		No	ClinGen ExAC gnomAD
rs782528768 CA8727089	245	P>L		No	ClinGen ExAC TOPMed gnomAD
rs782346428 CA8727092	247	D>G		No	ClinGen ExAC gnomAD
rs1244050579 CA400744387	247	D>N		No	ClinGen TOPMed
rs1555704888 CA400744407	248	A>G		No	ClinGen gnomAD
rs782245602 CA400744410	249	V>F		No	ClinGen ExAC gnomAD
rs782245602 CA8727094	249	V>I		No	ClinGen ExAC gnomAD
CA400744461 rs1555704891	254	P>A		No	ClinGen gnomAD
CA8727098 rs141613156	255	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs140011802 CA8727097	255	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs374149935 CA8727099	258	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
COSM983374 CA400744527 rs374149935	258	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1225490130 CA400744522	258	R>W		No	ClinGen TOPMed gnomAD
CA400744545 rs1406100612	261	H>N		No	ClinGen TOPMed
CA400744550 rs1555704895	261	H>Q		No	ClinGen gnomAD
rs782076077 CA8727101	262	H>R		No	ClinGen ExAC gnomAD
rs556496043 CA8727102	263	D>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1555704897 CA400744559	263	D>H		No	ClinGen gnomAD
rs1301729917 CA400744566	264	D>N		No	ClinGen TOPMed
CA8727104 rs377643744	265	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs781979322 CA8727103	265	P>S		No	ClinGen ExAC gnomAD
CA8727105 rs782790129	267	V>I		No	ClinGen ExAC TOPMed gnomAD
rs782790129 CA400744587	267	V>L		No	ClinGen ExAC TOPMed gnomAD
CA400744592 rs1555704903	268	L>V		No	ClinGen gnomAD
rs782495790 CA8727107	270	D>G		No	ClinGen ExAC gnomAD
rs1555704905 CA400744636	274	A>S		No	ClinGen gnomAD
CA400744644 rs1200044026	275	I>T		No	ClinGen TOPMed
CA400744663 rs1555704909	278	L>F		No	ClinGen gnomAD
rs1481416171 CA400744671	279	T>S		No	ClinGen TOPMed
CA400744694 rs1555704913	283	N>D		No	ClinGen gnomAD
rs1555704914 CA400744701	284	E>K		No	ClinGen gnomAD
CA400744710 rs1266467492	285	R>*		No	ClinGen TOPMed
CA8727109 rs781877143	285	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA400744725 rs1555704919	287	G>V		No	ClinGen gnomAD
rs1315142200 CA400744733	288	M>I		No	ClinGen TOPMed
rs1315142200 CA400744731	288	M>I		No	ClinGen TOPMed
rs560409056 CA8727111	288	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1218214938 CA400744729	288	M>T		No	ClinGen TOPMed
CA400744735 rs1224653642	289	V>L		No	ClinGen TOPMed
CA400744736 rs1224653642	289	V>M		No	ClinGen TOPMed
CA8727112 rs782273779	290	V>M		No	ClinGen ExAC gnomAD
rs370782486 CA8727113	292	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8727114 rs148427582	296	P>H		No	ClinGen ESP ExAC
CA8727115 rs782231700	299	V>A		No	ClinGen ExAC gnomAD
CA400744806 rs946493126	300	K>N		No	ClinGen gnomAD
CA400744825 rs1555704940	304	A>T		No	ClinGen gnomAD
CA293270366 rs902246404	305	S>C		No	ClinGen TOPMed
rs542379025 CA8727118	307	L>W		No	ClinGen ExAC TOPMed gnomAD
CA8727149 rs200362872	311	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400744889 rs1555705001	312	P>S		No	ClinGen gnomAD
CA400744932 rs1555705005	319	N>D		No	ClinGen gnomAD
rs1555705006 CA400744943	320	I>T		No	ClinGen gnomAD
CA400744951 rs1318807663	321	V>A		No	ClinGen TOPMed
CA8727153 rs782168056	322	T>I		No	ClinGen ExAC gnomAD
rs1555705014 CA400744979	324	T>I		No	ClinGen gnomAD
CA400744990 rs1555705016	325	D>A		No	ClinGen gnomAD
CA400744984 rs1555705015	325	D>Y		No	ClinGen gnomAD
rs1555705020 CA400745032	328	T>S		No	ClinGen gnomAD
rs1555705024 CA400745096	333	D>G		No	ClinGen gnomAD
CA8727154 rs782405067	334	A>G		No	ClinGen ExAC gnomAD
rs1599143021 CA400745107	334	A>T		No	ClinGen Ensembl
rs1555705025 CA400745125	336	A>T		No	ClinGen gnomAD
rs145172573 CA293270703	336	A>V		No	ClinGen ESP
CA8727159 rs370220613	338	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs370220613 CA8727158	338	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs782760310 CA8727160	338	A>V		No	ClinGen ExAC gnomAD
rs1555705029 CA400745162	339	V>I		No	ClinGen Ensembl
CA400745205 rs1555705030	342	S>N		No	ClinGen gnomAD
rs782540570 CA8727162	342	S>R		No	ClinGen ExAC gnomAD
rs782568102 CA400745212	343	L>V		No	ClinGen ExAC TOPMed gnomAD
CA8727166 rs782470752	345	T>A		No	ClinGen ExAC gnomAD
CA8727165 rs782470752	345	T>S		No	ClinGen ExAC gnomAD
rs1555705034 CA400745238	345	T>S		No	ClinGen gnomAD
CA400745251 rs782251646	346	N>I		No	ClinGen ExAC TOPMed gnomAD
CA400745249 rs782251646	346	N>S		No	ClinGen ExAC TOPMed gnomAD
rs782251646 CA8727167	346	N>T		No	ClinGen ExAC TOPMed gnomAD
rs1244507544 CA400745279	348	K>R		No	ClinGen TOPMed gnomAD
rs1555705037 CA400745293	349	T>S		No	ClinGen gnomAD
CA400745310 rs782671508	350	N>K		No	ClinGen ExAC TOPMed gnomAD
CA400745366 rs1555705043	354	E>D		No	ClinGen gnomAD
rs1555705042 CA400745352	354	E>K		No	ClinGen gnomAD
CA8727170 rs138064111	356	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1555705045 CA400745397	357	W>*		No	ClinGen gnomAD
CA400745422 rs1555705047	359	M>V		No	ClinGen gnomAD
rs781968749 CA8727172	362	I>M		No	ClinGen ExAC
CA400745475 rs1339838910	363	T>A		No	ClinGen TOPMed gnomAD
rs1339838910 CA400745473	363	T>P		No	ClinGen TOPMed gnomAD
rs1059558 CA8727175	365	G>S		No	ClinGen ExAC gnomAD
rs202041693 CA8727176	366	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782787344 CA8727177 COSM3820342	366	R>H	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs782041488 CA8727179	367	Q>E		No	ClinGen ExAC gnomAD
rs782041488 CA400745520	367	Q>K		No	ClinGen ExAC gnomAD
rs1568277700 CA400745577	370	I>M		No	ClinGen Ensembl
rs782750791 CA8727180	371	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA400745617 rs782521243	373	V>A		No	ClinGen ExAC TOPMed gnomAD
CA8727182 rs782521243	373	V>D		No	ClinGen ExAC TOPMed gnomAD
CA400745610 rs147590540	373	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA8727181 rs147590540	373	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA400745628 rs1555705067	374	V>A		No	ClinGen gnomAD
rs782692080 CA8727183	376	H>R		No	ClinGen ExAC gnomAD
CA8727187 rs782572935	380	P>L		No	ClinGen ExAC TOPMed gnomAD
rs782454277 CA8727186	380	P>S		No	ClinGen ExAC gnomAD
rs1555705071 CA400745720	381	F>S		No	ClinGen gnomAD
rs1444934300 CA400745743	383	V>I		No	ClinGen TOPMed
CA400745764 rs1555705076	384	S>G		No	ClinGen gnomAD
rs1555705077 CA400745774	384	S>I		No	ClinGen gnomAD
rs1136738 CA293270914	385	V>D		No	ClinGen Ensembl
rs782461316 CA8727190	386	L>F		No	ClinGen ExAC gnomAD
rs782461316 CA8727189	386	L>V		No	ClinGen ExAC gnomAD
rs782432220 CA8727192	387	S>A		No	ClinGen ExAC gnomAD
CA293270928 rs112072422	388	K>E		No	ClinGen Ensembl
CA400745931 rs1267975865	389	A>T		No	ClinGen TOPMed
rs3208857 CA293271144	390	D>V		No	ClinGen Ensembl
rs781903512 CA8727224	391	F>L		No	ClinGen ExAC gnomAD
rs1136737 CA293271166	392	K>E		No	ClinGen Ensembl
rs1555705129 CA400746088	398	V>L		No	ClinGen gnomAD
CA8727229 rs782484137	401	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1322172924 CA400746172	402	T>I		No	ClinGen TOPMed
rs1555705133 CA400746184	403	N>S		No	ClinGen gnomAD
CA8727230 rs782594683	404	Y>H		No	ClinGen ExAC gnomAD
CA400746198 rs1555705135	404	Y>S		No	ClinGen gnomAD
CA400746218 rs1555705139	405	T>S		No	ClinGen gnomAD
rs1432180767 CA400746213	405	T>S		No	ClinGen TOPMed
CA400746266 rs1555705141	408	G>V		No	ClinGen gnomAD
rs782559005 CA8727232	409	T>I		No	ClinGen ExAC gnomAD
rs1555705142 CA400746291	410	V>A		No	ClinGen gnomAD
CA8727233 rs782664736	411	E>A		No	ClinGen ExAC gnomAD
CA400746362 rs1555705144	414	V>A		No	ClinGen gnomAD
CA8727235 rs782308928	415	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA8727236 rs370385445	418	H>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA8727237 rs140410852	418	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370385445 CA293271236	418	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1555705147 CA400746434	419	C>Y		No	ClinGen gnomAD
CA400746465 rs1175155052	421	I>V		No	ClinGen TOPMed gnomAD
rs1555705148 CA400746486	422	I>T		No	ClinGen gnomAD
CA8727239 rs781980158	424	P>L		No	ClinGen ExAC gnomAD
rs782163589 CA8727240	426	M>V		No	ClinGen ExAC TOPMed gnomAD
CA8727242 rs781932699	427	N>T		No	ClinGen ExAC gnomAD
CA8727241 rs782405510	427	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA400746549 rs1247565644	428	L>V		No	ClinGen TOPMed
CA8727243 rs782043360	431	A>T		No	ClinGen ExAC gnomAD
CA400746613 rs1555705154	434	T>P		No	ClinGen gnomAD
rs1204835405 CA400746621	434	T>S		No	ClinGen TOPMed
rs1254791812 CA400746632	435	K>T		No	ClinGen TOPMed
CA8727246 rs368976613	439	V>F		No	ClinGen ESP ExAC gnomAD
CA400746664 rs1555705158	440	I>V		No	ClinGen gnomAD
rs1232939191 CA400746670	441	L>V		No	ClinGen TOPMed
rs538665386 CA8727248	446	N>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1555705320 CA400747001	450	A>S		No	ClinGen gnomAD
CA400747010 rs1555705323	451	A>S		No	ClinGen gnomAD
rs1555705325 CA400747042	453	K>E		No	ClinGen gnomAD
CA293271736 rs17850031	453	K>N		No	ClinGen Ensembl
rs782723282 CA8727273	455	G>D		No	ClinGen ExAC gnomAD
CA8727276 rs782817365	458	E>G		No	ClinGen ExAC gnomAD
CA8727275 rs782499492	458	E>Q		No	ClinGen ExAC gnomAD
rs781888792 CA8727277	459	K>E		No	ClinGen ExAC TOPMed gnomAD
CA400747145 rs1555705335	459	K>N		No	ClinGen gnomAD
rs564932041 CA293271785	461	S>C		No	ClinGen 1000Genomes
rs782568693 CA400747170 COSM1212745	461	S>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8727279 rs782568693	461	S>T		No	ClinGen ExAC TOPMed gnomAD
rs148952966 CA8727280	462	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA400747190 rs1555705339	462	I>M		No	ClinGen gnomAD
rs148952966 CA400747182	462	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs532248468 CA8727281	463	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400747221 rs1469973816	464	I>T		No	ClinGen TOPMed
rs1555705343 CA400747263	467	C>R		No	ClinGen gnomAD
CA400747268 rs1377772847	467	C>Y		No	ClinGen TOPMed gnomAD
CA400747284 rs1555705344	468	G>A		No	ClinGen gnomAD
COSM1130189 CA8727282 rs782635788	470	L>V	prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs782406317 CA8727284	472	K>E		No	ClinGen ExAC gnomAD
rs781944993 CA8727285	475	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1452028946 CA400747372	475	A>V		No	ClinGen TOPMed
rs781957997 CA8727289	479	H>N		No	ClinGen ExAC gnomAD
CA8727290 rs782781349	479	H>R		No	ClinGen ExAC gnomAD
CA8727288 rs781957997	479	H>Y		No	ClinGen ExAC gnomAD
rs782028236 CA8727291	481	N>S		No	ClinGen ExAC gnomAD
CA400747492 rs1555705351	485	Y>D		No	ClinGen gnomAD
CA8727294 rs781790390	486	K>E		No	ClinGen ExAC gnomAD
CA8727296 rs782724880	487	A>T		No	ClinGen ExAC TOPMed gnomAD
CA400747523 rs1555705353	487	A>V		No	ClinGen gnomAD
CA8727297 rs781870365	488	S>L		No	ClinGen ExAC TOPMed gnomAD
CA8727299 rs782679009	490	S>N		No	ClinGen ExAC TOPMed gnomAD
CA400747598 rs1555705358	493	E>A		No	ClinGen gnomAD
CA8727301 rs782197159	494	K>N		No	ClinGen ExAC gnomAD
rs1555705359 CA400747613	494	K>R		No	ClinGen gnomAD
rs1555705365 CA400747667	498	V>A		No	ClinGen gnomAD
CA8727304 rs782624895	498	V>L		No	ClinGen ExAC gnomAD
rs1391419820 CA400747669	499	E>K		No	ClinGen TOPMed
rs782557095 CA400747776	501	E>D		No	ClinGen ExAC TOPMed gnomAD
rs782557095 CA400747777	501	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1476387465 CA400747796	503	D>A		No	ClinGen TOPMed
rs782662081 CA8727327	503	D>H		No	ClinGen ExAC gnomAD
CA8727328 rs782188965	504	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA8727332 rs13105	506	V>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8727331 rs144915703	506	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144915703 CA8727330	506	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8727333 rs781976247	508	P>S		No	ClinGen ExAC gnomAD
rs782162250 CA8727335	511	T>N		No	ClinGen ExAC gnomAD
CA400747932 rs1568278937	515	Y>N		No	ClinGen Ensembl
rs1235134463 CA400747967	517	F>L		No	ClinGen TOPMed
CA400747964 rs1265949097	517	F>S		No	ClinGen TOPMed gnomAD
rs1555705443 CA400747977	518	Q>P		No	ClinGen gnomAD
rs1555705444 CA400747989	519	V>I		No	ClinGen gnomAD
rs782331259 CA8727336	520	Q>*		No	ClinGen ExAC gnomAD
rs782101390 CA8727338	520	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs189763518 CA8727337	520	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs141790032 CA8727339	523	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781871183 CA8727340	525	G>R		No	ClinGen ExAC gnomAD
rs1309440199 CA400748085	528	N>H		No	ClinGen TOPMed
rs782120137 CA8727341	530	F>Y		No	ClinGen ExAC gnomAD

No associated diseases with P52292

6 regional properties for P52292

Type	Name	Position	InterPro Accession
repeat	Armadillo	108 - 191	IPR000225-1
repeat	Armadillo	193 - 238	IPR000225-2
repeat	Armadillo	241 - 406	IPR000225-3
repeat	Armadillo	409 - 449	IPR000225-4
domain	Importin-alpha, importin-beta-binding domain	1 - 98	IPR002652
repeat	Atypical Arm repeat	458 - 509	IPR032413

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Nucleus ;
PANTHER Family	PTHR23316	IMPORTIN ALPHA
PANTHER Subfamily	PTHR23316:SF12	IMPORTIN SUBUNIT ALPHA-1
PANTHER Protein Class	transporter
PANTHER Pathway Category	No pathway information available

11 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.
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
extrinsic component of postsynaptic specialization membrane	The component of the postsynaptic specialization membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region.
glutamatergic synapse	A synapse that uses glutamate as a neurotransmitter.
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
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.

4 GO annotations of molecular function

Name	Definition
histone deacetylase binding	Binding to histone deacetylase.
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.
RNA binding	Binding to an RNA molecule or a portion thereof.

6 GO annotations of biological process

Name	Definition
DNA metabolic process	Any cellular metabolic process involving deoxyribonucleic acid. This is one of the two main types of nucleic acid, consisting of a long, unbranched macromolecule formed from one, or more commonly, two, strands of linked deoxyribonucleotides.
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.
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 viral life cycle	Any process that activates or increases the frequency, rate or extent of viral life cycle.
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 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.

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
A2VE08	KPNA1	Importin subunit alpha-5	Bos taurus (Bovine)	SS
C1JZ66	KPNA7	Importin subunit alpha-8	Bos taurus (Bovine)	PR
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
P52294	KPNA1	Importin subunit alpha-5	Homo sapiens (Human)	SS
Q60960	Kpna1	Importin subunit alpha-5	Mus musculus (Mouse)	SS
O35343	Kpna4	Importin subunit alpha-3	Mus musculus (Mouse)	SS
O35345	Kpna6	Importin subunit alpha-7	Mus musculus (Mouse)	PR
C0LLJ0	Kpna7	Importin subunit alpha-8	Mus musculus (Mouse)	SS
O35344	Kpna3	Importin subunit alpha-4	Mus musculus (Mouse)	SS
P52293	Kpna2	Importin subunit alpha-1	Mus musculus (Mouse)	EV
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
Q19969	ima-3	Importin subunit alpha-3	Caenorhabditis elegans	SS
P91276	ima-2	Importin subunit alpha-2	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
MSTNENANTP	AARLHRFKNK	GKDSTEMRRR	RIEVNVELRK	AKKDDQMLKR	RNVSSFPDDA
70	80	90	100	110	120
TSPLQENRNN	QGTVNWSVDD	IVKGINSSNV	ENQLQATQAA	RKLLSREKQP	PIDNIIRAGL
130	140	150	160	170	180
IPKFVSFLGR	TDCSPIQFES	AWALTNIASG	TSEQTKAVVD	GGAIPAFISL	LASPHAHISE
190	200	210	220	230	240
QAVWALGNIA	GDGSVFRDLV	IKYGAVDPLL	ALLAVPDMSS	LACGYLRNLT	WTLSNLCRNK
250	260	270	280	290	300
NPAPPIDAVE	QILPTLVRLL	HHDDPEVLAD	TCWAISYLTD	GPNERIGMVV	KTGVVPQLVK
310	320	330	340	350	360
LLGASELPIV	TPALRAIGNI	VTGTDEQTQV	VIDAGALAVF	PSLLTNPKTN	IQKEATWTMS
370	380	390	400	410	420
NITAGRQDQI	QQVVNHGLVP	FLVSVLSKAD	FKTQKEAVWA	VTNYTSGGTV	EQIVYLVHCG
430	440	450	460	470	480
IIEPLMNLLT	AKDTKIILVI	LDAISNIFQA	AEKLGETEKL	SIMIEECGGL	DKIEALQNHE
490	500	510	520
NESVYKASLS	LIEKYFSVEE	EEDQNVVPET	TSEGYTFQVQ	DGAPGTFNF