AiPD: Autoinhibited Protein Database

Q9UBU9

Gene name	NXF1 (TAP)
Protein name	Nuclear RNA export factor 1
Names	Tip-associated protein, Tip-associating protein, mRNA export factor TAP
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10482
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

1-112 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-112 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

15 structures for Q9UBU9

Entry ID	Method	Resolution	Chain	Position	Source
1FO1	X-ray	290 A	A/B	102-372	PDB
1FT8	X-ray	315 A	A/B/C/D/E	102-372	PDB
1GO5	NMR	-	A	551-619	PDB
1JKG	X-ray	190 A	B	371-619	PDB
1JN5	X-ray	280 A	B	371-619	PDB
1KOH	X-ray	380 A	A/B/C/D	96-372	PDB
1KOO	X-ray	380 A	A/B/C/D	96-372	PDB
1OAI	X-ray	100 A	A	561-619	PDB
2Z5K	X-ray	260 A	B	53-82	PDB
2Z5M	X-ray	300 A	B	53-82	PDB
3RW6	X-ray	230 A	A/B	96-362	PDB
3RW7	X-ray	300 A	A/B/C/D	96-362	PDB
4WYK	X-ray	340 A	A/C	96-555	PDB
6E5U	X-ray	380 A	A/C/E/G	116-619	PDB
AF-Q9UBU9-F1	Predicted				AlphaFoldDB

380 variants for Q9UBU9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA380929081 rs1435049468	2	A>G		No	ClinGen TOPMed gnomAD
CA223618122 rs113286052	3	D>E		No	ClinGen Ensembl
rs1164136212 CA380929017	4	E>G		No	ClinGen TOPMed
rs1250189276 CA380928985	5	G>E		No	ClinGen gnomAD
CA380928872 rs1395202647	7	S>L		No	ClinGen TOPMed
rs1259557540 CA380928854	8	Y>C		No	ClinGen gnomAD
rs774758326 CA380928831	9	S>G		No	ClinGen ExAC TOPMed gnomAD
rs774758326 CA6057071	9	S>R		No	ClinGen ExAC TOPMed gnomAD
CA380926160 rs1403038627	10	E>G		No	ClinGen gnomAD
CA6057070 rs768943832	10	E>K		No	ClinGen ExAC gnomAD
CA6057015 rs143742098	11	H>D		No	ClinGen ESP ExAC
CA380926070 rs1427511390	12	D>E		No	ClinGen gnomAD
rs758797454 CA6057013	12	D>N		No	ClinGen ExAC gnomAD
CA223617366 rs891877381	13	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs753268990 CA6057012	15	R>H		No	ClinGen ExAC gnomAD
rs200303541 CA6057010	16	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1179700502 CA380925858	18	F>L		No	ClinGen gnomAD
rs200856666 CA6057009	21	R>K		No	ClinGen ExAC TOPMed gnomAD
CA380925678 rs1258605794	22	K>R		No	ClinGen gnomAD
rs1202837967 CA380925634	23	K>R		No	ClinGen TOPMed gnomAD
TCGA novel	27	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA223617354 rs267603079	28	P>S		No	ClinGen Ensembl
rs1459255092 CA380925342	30	R>L		No	ClinGen TOPMed
CA6057005 rs772236957	30	R>W	Variant assessed as Somatic; 0.0003697 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs138084535 CA6057003	34	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs138084535 CA223617322	34	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA380925085 rs1437473466	37	N>T		No	ClinGen TOPMed
rs550521225 CA6057002	37	N>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs749100377 CA6057001	38	R>C		No	ClinGen ExAC gnomAD
rs779814469 CA6057000	38	R>H		No	ClinGen ExAC gnomAD
CA380924993 rs1178599902	39	R>K		No	ClinGen gnomAD
rs1415287127 CA380924980	39	R>S		No	ClinGen gnomAD
rs1407466231 CA380924975	40	S>F		No	ClinGen gnomAD
rs770786498 CA223617304	40	S>P		No	ClinGen Ensembl
CA380924934 rs1343426940	41	G>E		No	ClinGen gnomAD
rs769307705 CA6056999	42	R>K		No	ClinGen ExAC gnomAD
rs1000637750 CA223617293	43	G>V		No	ClinGen Ensembl
CA6056996 rs756848721	44	G>C		No	ClinGen ExAC gnomAD
rs756848721 CA6056997	44	G>S		No	ClinGen ExAC gnomAD
CA380924752 rs1295437465	46	G>D		No	ClinGen TOPMed
rs372428651 CA6056994	47	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA380924670 rs1210515429	48	R>L		No	ClinGen TOPMed gnomAD
rs1210515429 CA380924676	48	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA6056993 rs779393008	48	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA380924628 rs1315994012	49	S>F		No	ClinGen TOPMed gnomAD
rs755291439 CA6056992	50	S>F		No	ClinGen ExAC gnomAD
rs1353795553 CA380924594	51	R>C		No	ClinGen gnomAD
rs1353795553 CA380924599	51	R>G		No	ClinGen gnomAD
rs766820705 COSM1704157 CA380924591	51	R>H	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6056990 rs766820705	51	R>L		No	ClinGen ExAC TOPMed gnomAD
rs750727442 CA6056988	53	E>D		No	ClinGen ExAC gnomAD
rs760779034 CA6056989	53	E>G		No	ClinGen ExAC gnomAD
CA380924560 rs1230110935	53	E>K		No	ClinGen TOPMed
rs1590955676 CA380924522	54	E>G		No	ClinGen Ensembl
CA380924500 rs1304983447	55	D>G		No	ClinGen gnomAD
rs1344868521 CA380924469	56	D>G		No	ClinGen gnomAD
CA6056987 rs139794879	56	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6056984 rs768745939	58	D>G		No	ClinGen ExAC TOPMed gnomAD
CA223617258 rs939473524	59	V>M		No	ClinGen TOPMed
rs1381012808 CA380924002	65	Q>*		No	ClinGen gnomAD
CA6056982 rs775116482	66	D>N		No	ClinGen ExAC gnomAD
CA380923792 rs1473869060	68	P>L		No	ClinGen TOPMed
CA6056980 rs769695374	68	P>T		No	ClinGen ExAC TOPMed gnomAD
CA380923756 rs1182285888	69	R>Q		No	ClinGen TOPMed gnomAD
CA6056979 rs745492057	71	R>*		No	ClinGen ExAC gnomAD
CA380923480 rs1219667587	73	N>S		No	ClinGen gnomAD
rs1590955512 CA380923432	76	T>S		No	ClinGen Ensembl
CA223617159 rs892691374	77	T>A		No	ClinGen TOPMed
CA6056959 rs746717028	77	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1222961050 COSM145701 CA380923403	78	R>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
CA6056958 rs772680652	78	R>Q		No	ClinGen ExAC gnomAD
CA380923334 rs1256598140	81	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA223617155 rs376614748	82	R>Q		No	ClinGen ESP TOPMed
rs202162439 CA6056957	82	R>W		No	ClinGen 1000Genomes ExAC
rs749749809 CA6056956	83	G>S		No	ClinGen ExAC gnomAD
rs1341419252 CA380923261	83	G>V		No	ClinGen gnomAD
TCGA novel	84	D>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA223617149 rs1024723903	84	D>G		No	ClinGen Ensembl
CA223617147 rs1024723903	84	D>V		No	ClinGen Ensembl
rs148886422 CA6056955	85	T>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1189612058 CA380923091	89	R>Q		No	ClinGen TOPMed
CA380923068 rs1590955471	90	D>A		No	ClinGen Ensembl
CA6056954 rs145757652	91	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA380923054 rs145757652	91	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	91	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380923026 rs1352641875	92	I>S		No	ClinGen gnomAD
CA6056953 rs746277226	92	I>V		No	ClinGen ExAC gnomAD
CA223617141 rs948062613	93	H>R		No	ClinGen TOPMed
rs781224393 CA6056952	93	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs757521035 CA6056951	98	R>G		No	ClinGen ExAC
rs1465916924 CA380922896	99	D>H		No	ClinGen gnomAD
CA380922791 rs1277366986	103	P>S		No	ClinGen TOPMed gnomAD
TCGA novel	104	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751895944 CA6056950	104	E>Q		No	ClinGen ExAC gnomAD
TCGA novel	105	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380922716 rs1196817706	106	G>R		No	ClinGen TOPMed gnomAD
TCGA novel	108	A>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764256179 CA6056949	110	T>I		No	ClinGen ExAC gnomAD
rs764256179 CA380922573	110	T>N		No	ClinGen ExAC gnomAD
rs1176087677 CA380922441	113	D>G		No	ClinGen gnomAD
CA380922351 rs1236863990	115	T>A		No	ClinGen gnomAD
CA6056946 rs765247146	116	S>L		No	ClinGen ExAC TOPMed gnomAD
CA380922219 rs1434168278	118	N>K		No	ClinGen TOPMed
TCGA novel	119	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs147085267 CA223616509	125	P>A		No	ClinGen Ensembl
TCGA novel	125	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM109131 rs147085267 CA223616506	125	P>S	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA380920822 rs1381641356	126	Y>C		No	ClinGen gnomAD
rs1440882444 CA380920779	128	R>K		No	ClinGen gnomAD
TCGA novel	130	Y>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1385133917 CA380920702	130	Y>S		No	ClinGen gnomAD
CA380920519 rs1203170569	133	A>S		No	ClinGen TOPMed
CA380920511 rs1273947520	133	A>V		No	ClinGen TOPMed
CA6056922 rs750012097 CA6056923	138	M>I		No	ClinGen ExAC gnomAD
CA380920068 rs1204784583	146	P>R		No	ClinGen gnomAD
rs1257195708 CA380920081	146	P>S		No	ClinGen gnomAD
TCGA novel	148	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1252418144 CA380920046	149	P>A		No	ClinGen TOPMed
CA223616468 rs201574995	150	I>T		No	ClinGen TOPMed
rs773891539 CA6056919	150	I>V		No	ClinGen ExAC TOPMed gnomAD
CA6056900 rs763600489	155	E>D		No	ClinGen ExAC TOPMed gnomAD
CA380919781 rs1433184051	156	N>Y		No	ClinGen TOPMed
CA6056899 rs762373822	157	T>A		No	ClinGen ExAC gnomAD
rs1565201373 CA380919708	158	R>Q		No	ClinGen Ensembl
CA223616385 rs969629126	158	R>W		No	ClinGen Ensembl
CA6056898 rs368493809	160	Q>H		No	ClinGen ESP ExAC gnomAD
rs1023717509 CA223616380	163	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs748390879 CA6056893	166	A>G		No	ClinGen ExAC gnomAD
rs772387689 CA223616370	166	A>S		No	ClinGen ExAC TOPMed gnomAD
rs772387689 CA6056894	166	A>T		No	ClinGen ExAC TOPMed gnomAD
CA380919331 rs1171639832	168	T>S		No	ClinGen gnomAD
CA380919313 rs1477791060	169	A>V		No	ClinGen gnomAD
rs1249692998 CA380919111	174	A>V		No	ClinGen gnomAD
TCGA novel	175	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380919064 rs756025099	176	N>S		No	ClinGen ExAC gnomAD
CA6056888 rs756025099	176	N>T		No	ClinGen ExAC gnomAD
CA380919027 rs1258402207	177	Y>S		No	ClinGen gnomAD
rs1222754589 CA380918987	179	I>L		No	ClinGen TOPMed
rs374496111 CA6056885	182	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs374496111 CA6056884	182	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA6056886 rs781026286	182	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs763684051 CA6056883	184	N>K		No	ClinGen ExAC gnomAD
rs1357708071 CA380918557	188	S>P		No	ClinGen TOPMed gnomAD
CA380918558 rs1357708071	188	S>T		No	ClinGen TOPMed gnomAD
CA380918548 rs1336384124	189	I>V		No	ClinGen gnomAD
rs757036659 CA6056866	192	N>I		No	ClinGen ExAC gnomAD
CA380918424 rs1441486378	193	S>C		No	ClinGen gnomAD
rs746801609 CA6056865	193	S>P		No	ClinGen ExAC
rs758089394 CA6056863	194	S>F		No	ClinGen ExAC TOPMed gnomAD
CA6056864 rs777667612	194	S>T		No	ClinGen ExAC gnomAD
CA6056862 rs752460540	199	T>I		No	ClinGen ExAC gnomAD
rs1247791376 CA380918267	200	I>K		No	ClinGen gnomAD
CA6056861 rs201901987	200	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs996072137 CA223616221	202	N>D		No	ClinGen TOPMed
CA380918225 rs1487721874	202	N>S		No	ClinGen gnomAD
rs750878942 CA6056859	204	L>V		No	ClinGen ExAC gnomAD
rs767944388 CA6056858	206	P>L		No	ClinGen ExAC gnomAD
TCGA novel	207	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380918066 rs1228166632	208	Q>E		No	ClinGen gnomAD
rs760646749 CA223616206	209	V>I		No	ClinGen Ensembl
rs1377447801 CA380917987	211	Q>E		No	ClinGen gnomAD
rs1286251759 CA380917954	212	L>P		No	ClinGen gnomAD
TCGA novel	213	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs191516295 RCV000952963 CA6056832	214	L>V		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs140528299 CA6056831	215	I>M		No	ClinGen ExAC TOPMed gnomAD
CA380917783 rs1214777783	215	I>T		No	ClinGen gnomAD
rs1040197600 COSM415484 CA223616097	216	M>I	urinary_tract [Cosmic]	No	ClinGen cosmic curated Ensembl
CA6056830 rs776538505	219	R>*		No	ClinGen ExAC TOPMed gnomAD
rs1300710679 CA380917570	221	D>E	Variant assessed as Somatic; 9.239e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA380917610 rs1308263602	221	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA380917530 rs1385132069	224	Q>K		No	ClinGen TOPMed gnomAD
TCGA novel	224	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs912619280 CA223616086	225	Q>R		No	ClinGen gnomAD
CA380917462 rs1445850357	226	A>G		No	ClinGen gnomAD
CA6056828 rs760514017	226	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	231	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380917333 rs1173388631	233	R>C	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1173388631 CA380917341	233	R>G		No	ClinGen gnomAD
CA380917326 rs1185590508	233	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs199769585 CA6056824	236	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6056801 rs745404912	237	D>E		No	ClinGen ExAC TOPMed gnomAD
CA223615886 rs780728532	240	A>S		No	ClinGen ExAC TOPMed gnomAD
CA6056800 rs780728532	240	A>T		No	ClinGen ExAC TOPMed gnomAD
CA6056797 rs779231858	243	I>N		No	ClinGen ExAC TOPMed gnomAD
rs774538331 CA6056798	243	I>V		No	ClinGen ExAC TOPMed gnomAD
CA6056795 rs377509078	244	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA380916973 rs1225786126	245	V>A		No	ClinGen TOPMed
COSM193636 CA6056794 rs373618263	245	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1297100567 CA380916913	248	N>H		No	ClinGen gnomAD
CA6056793 rs200741992	249	R>H		No	ClinGen ESP ExAC gnomAD
CA223615865 rs377645345	251	S>I		No	ClinGen ESP TOPMed gnomAD
CA380916813 rs377645345	251	S>N		No	ClinGen ESP TOPMed gnomAD
rs750512101 CA6056792	252	C>R		No	ClinGen ExAC gnomAD
CA380916766 rs1454711357	252	C>Y		No	ClinGen gnomAD
CA6056791 rs767746214	256	T>A		No	ClinGen ExAC gnomAD
CA380916645 rs767746214	256	T>S		No	ClinGen ExAC gnomAD
CA6056790 rs761838693	258	R>K		No	ClinGen ExAC gnomAD
CA380916552 rs1258451452	258	R>S		No	ClinGen gnomAD
CA380916498 rs1487339757	260	I>T		No	ClinGen gnomAD
CA6056789 rs774489495	260	I>V		No	ClinGen ExAC TOPMed gnomAD
rs763741054 CA6056788	265	P>A		No	ClinGen ExAC gnomAD
rs763741054 CA380916342	265	P>S		No	ClinGen ExAC gnomAD
rs373921793 CA223615838	266	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs373921793 CA6056787	266	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs146549860	267	L>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA223615736 rs940276396	268	L>S		No	ClinGen TOPMed
rs1168609274 CA380916019	271	N>T		No	ClinGen gnomAD
rs1477737251 CA380915954	273	S>N		No	ClinGen gnomAD
CA6056760 rs774673205	274	N>K		No	ClinGen ExAC gnomAD
rs1396371589 CA380915920	274	N>S		No	ClinGen TOPMed
rs1468810214 CA380915838	276	R>K		No	ClinGen gnomAD
CA223615712 rs375026902	276	R>S		No	ClinGen ESP gnomAD
CA380915721 rs1239433080	279	R>K		No	ClinGen TOPMed gnomAD
CA223615699 rs74814035	281	D>G		No	ClinGen Ensembl
CA380915461 rs1380896844	284	S>F		No	ClinGen TOPMed
CA6056757 rs780466346	285	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1458842418 CA380915321	287	V>A		No	ClinGen gnomAD
TCGA novel	290	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380915147 rs1199445780	292	N>H		No	ClinGen gnomAD
rs1590953635 CA380915126	292	N>S		No	ClinGen Ensembl
CA380915073 rs1342277256	294	K>Q		No	ClinGen TOPMed gnomAD
rs1372303070 CA380914961	297	N>S		No	ClinGen TOPMed gnomAD
rs992455124 CA223615687	298	L>F		No	ClinGen Ensembl
COSM689844 CA380914853 rs1444988072	299	S>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	300	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380913507 rs1259142794	303	L>V		No	ClinGen gnomAD
rs752612567 CA6056733	304	K>N		No	ClinGen ExAC gnomAD
CA380913371 rs1324540315	306	E>K		No	ClinGen TOPMed
rs754717700 CA6056730	307	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs778851087 CA6056731 COSM193635	307	R>W	Variant assessed as Somatic; 0.0002782 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs529434632 CA6056727	310	D>E		No	ClinGen 1000Genomes ExAC gnomAD
CA380913221 rs1228690532	310	D>G		No	ClinGen gnomAD
CA380913161 rs1446560944	311	K>M		No	ClinGen TOPMed
rs750101908 CA6056726	312	I>V		No	ClinGen ExAC gnomAD
TCGA novel	316	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747195580 CA6056717	323	D>N		No	ClinGen ExAC gnomAD
rs1350627034 CA380912494	325	N>I		No	ClinGen gnomAD
CA380912459 rs1478732739	326	S>P		No	ClinGen TOPMed
TCGA novel	327	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA223615285 rs1012712491	330	T>N		No	ClinGen Ensembl
CA380912250 rs1590953119	330	T>P		No	ClinGen Ensembl
rs1419653158 CA380912184	331	F>L		No	ClinGen gnomAD
rs772149198 CA6056715	332	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM3769386 COSM3769385 rs748197436 CA6056714	332	R>Q	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1487166802 CA380912028	336	T>I		No	ClinGen gnomAD
rs548866961 CA6056673 COSM1509450	340	A>T	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1179175279 CA380911000	341	I>V		No	ClinGen TOPMed gnomAD
rs770769357 CA6056671	343	E>G		No	ClinGen ExAC gnomAD
CA6056672 rs780833651	343	E>K		No	ClinGen ExAC TOPMed gnomAD
CA380910008 rs1239263269	350	R>C		No	ClinGen TOPMed gnomAD
rs1333769034 CA380910002	350	R>H		No	ClinGen gnomAD
rs374730186 CA6056654	355	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs372842580 CA6056653	356	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199956847 CA6056646	368	T>M		No	ClinGen ExAC TOPMed gnomAD
CA6056644 rs781740092	369	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA223611524 rs904258775	369	T>P		No	ClinGen TOPMed
CA6056641 COSM429474 rs369101376	371	P>L	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1418688042 CA380909007	371	P>S		No	ClinGen gnomAD
rs1205559243 CA380908957	373	C>R		No	ClinGen gnomAD
CA6056618 rs755203879	377	Y>C		No	ClinGen ExAC gnomAD
rs1565198832 CA380908674	380	T>I		No	ClinGen Ensembl
rs1372286506 CA380908663	381	E>A		No	ClinGen TOPMed
TCGA novel	382	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6056617 rs753921712	385	S>N		No	ClinGen ExAC gnomAD
rs1370873090 CA380908585	385	S>R		No	ClinGen gnomAD
rs766631420 CA6056616	386	L>M		No	ClinGen ExAC gnomAD
CA380908554 rs1443558385	388	L>V		No	ClinGen gnomAD
rs1372076134 CA380908535	389	H>Y		No	ClinGen gnomAD
CA223610872 rs1048054483	395	Y>H		No	ClinGen Ensembl
rs368133822 CA6056589	397	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs893527210 CA223610863	399	D>N		No	ClinGen TOPMed
rs776166593 CA6056586	401	G>E		No	ClinGen ExAC gnomAD
CA223610856 rs750524963	401	G>R		No	ClinGen gnomAD
CA380908024 rs1201639921	405	G>W		No	ClinGen TOPMed
CA380907174 rs1408368344	414	A>V		No	ClinGen gnomAD
CA380907137 rs749454348	416	C>F		No	ClinGen ExAC gnomAD
rs749454348 CA6056581	416	C>Y		No	ClinGen ExAC gnomAD
CA6056580 rs780456957	419	S>I		No	ClinGen ExAC
rs1188019143 CA380906956	424	P>S		No	ClinGen gnomAD
rs1414410963 CA380906870	427	P>A		No	ClinGen TOPMed
rs1474268397 CA380906847	428	A>P		No	ClinGen TOPMed
rs1242043093 CA380906824	429	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1249083941 CA380906750	430	S>C		No	ClinGen gnomAD
CA6056562 rs367975743	434	E>K		No	ClinGen ESP ExAC gnomAD
rs990958555 CA223610766	436	F>L		No	ClinGen TOPMed gnomAD
rs1164957974 CA380906413	442	V>M		No	ClinGen TOPMed
rs1565198264 CA380906103	449	T>P		No	ClinGen Ensembl
rs763597745 CA6056540	451	R>Q		No	ClinGen ExAC gnomAD
CA223610651 rs544436563	453	R>Q		No	ClinGen gnomAD
rs770344812 CA6056538	458	T>M		No	ClinGen ExAC gnomAD
rs1565198194 CA380905557	458	T>S		No	ClinGen Ensembl
rs1179084923 CA380905478	459	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA380905347 rs1432578586	462	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA6056534 rs769086364	467	N>S		No	ClinGen ExAC gnomAD
CA380905098 rs1208681994	468	E>D		No	ClinGen gnomAD
CA380904981 rs149273641	471	K>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6056533 rs777946270	471	K>Q		No	ClinGen ExAC gnomAD
rs149273641 CA6056532	471	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1314820367 CA380904842	475	D>N		No	ClinGen TOPMed gnomAD
CA6056530 rs780326943 COSM1604923	476	V>I	Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs754771239 CA6056529	477	N>S		No	ClinGen ExAC TOPMed gnomAD
CA380904716 rs1401783722	478	S>F		No	ClinGen gnomAD
CA6056528 rs753491308	478	S>P		No	ClinGen ExAC gnomAD
rs755841238 CA6056526	479	F>L		No	ClinGen ExAC TOPMed gnomAD
rs749871563 CA6056525	480	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1362367251 CA380904604	483	I>V		No	ClinGen gnomAD
TCGA novel	485	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776158090 CA6056522	485	A>V		No	ClinGen ExAC gnomAD
CA223610564 rs995941688	486	Q>E		No	ClinGen TOPMed
TCGA novel	486	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1417281307 CA380904443	487	T>R		No	ClinGen gnomAD
rs1467806168 CA380904283	488	S>R		No	ClinGen gnomAD
rs766823161 CA6056498	489	T>R		No	ClinGen ExAC gnomAD
TCGA novel	494	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6056496 rs773487200	495	V>I		No	ClinGen ExAC TOPMed gnomAD
CA380904137 rs773487200	495	V>L		No	ClinGen ExAC TOPMed gnomAD
rs772099017 CA6056495	496	N>S		No	ClinGen ExAC TOPMed gnomAD
CA6056476 rs761132527	502	V>A		No	ClinGen ExAC gnomAD
CA6056474 rs367658652 CA380903687	504	G>R		No	ClinGen ESP ExAC gnomAD
CA223609790 rs780115078	507	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1478177729 CA380903614	507	R>W		No	ClinGen TOPMed gnomAD
rs1251851916 CA380903542	510	L>F		No	ClinGen gnomAD
CA6056473 rs762064065	510	L>S		No	ClinGen ExAC gnomAD
rs916766594 CA223609753	511	R>Q		No	ClinGen gnomAD
TCGA novel	512	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1278701080 CA380903428	514	T>I		No	ClinGen TOPMed gnomAD
rs1054387983 CA223609746	515	R>Q		No	ClinGen TOPMed
TCGA novel	515	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1346062008 CA380903335	517	F>L		No	ClinGen gnomAD
rs768785086 CA6056471	518	I>V		No	ClinGen ExAC gnomAD
TCGA novel	519	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1590949344 CA380903269	519	A>T		No	ClinGen Ensembl
CA223609738 rs374112252	520	V>I		No	ClinGen ESP TOPMed
rs568755149 CA6056470	523	S>G		No	ClinGen 1000Genomes ExAC gnomAD
COSM429473 CA6056469 rs775505140	524	N>S	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1590948966 CA380901894	527	L>P		No	ClinGen Ensembl
rs914856407 CA223609211	529	I>V		No	ClinGen gnomAD
rs111684491 CA223609199	532	D>Y		No	ClinGen Ensembl
rs1325675841 CA380901632	536	V>M		No	ClinGen gnomAD
CA380901561 rs1315928986	539	A>D		No	ClinGen gnomAD
rs751795206 CA6056453	541	S>C		No	ClinGen ExAC gnomAD
CA380901423 rs1388904834	544	I>N		No	ClinGen gnomAD
TCGA novel	546	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763128808 CA6056451	549	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA223609189 rs754726781	549	A>V		No	ClinGen Ensembl
CA6056449 CA6056450 rs765185841	550	M>I		No	ClinGen ExAC gnomAD
CA380901291 rs1184134083	550	M>R		No	ClinGen TOPMed gnomAD
rs1415261626 CA380901300	550	M>V		No	ClinGen gnomAD
TCGA novel	551	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6056446 COSM193630 rs770860085	554	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6056444 rs773029566	557	S>C		No	ClinGen ExAC gnomAD
rs546919784 CA6056442	561	P>S		No	ClinGen 1000Genomes ExAC
rs1291442245 CA380901054	562	T>I		No	ClinGen TOPMed
CA380901046 rs1565197217	563	L>V		No	ClinGen Ensembl
CA380901005 rs1292068787	565	P>S		No	ClinGen gnomAD
rs778328082 CA6056441	566	E>G		No	ClinGen ExAC gnomAD
CA380900942 rs1361160597	568	Q>K		No	ClinGen gnomAD
CA223609147 rs372102791	569	E>K		No	ClinGen ESP TOPMed
CA6056440 rs756641801	570	M>L		No	ClinGen ExAC gnomAD
rs756641801 CA380900891	570	M>V		No	ClinGen ExAC gnomAD
CA223609104 rs750467601	571	L>V		No	ClinGen TOPMed
TCGA novel	573	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs539792607 CA6056439	579	G>C		No	ClinGen 1000Genomes ExAC gnomAD
CA223609062 rs950524577	580	M>I		No	ClinGen Ensembl
CA6056436 rs138193807	583	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6056435 rs138193807	583	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6056395 rs779024930	587	K>N		No	ClinGen ExAC gnomAD
CA380900078 rs1220304238	590	Q>K		No	ClinGen TOPMed
rs755300276 CA6056394	592	N>S		No	ClinGen ExAC gnomAD
TCGA novel	593	N>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1326619650 CA380899898	594	W>R		No	ClinGen gnomAD
CA380899667 rs1315436758	598	R>S		No	ClinGen TOPMed
rs377660358 CA6056392	601	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA223607326 rs911068728	605	H>P		No	ClinGen TOPMed
CA380899429 rs1590947389	606	L>R		No	ClinGen Ensembl
CA6056370 rs531151039	611	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs745766457 CA6056369	614	E>A		No	ClinGen ExAC gnomAD
CA6056368 rs781019689	615	V>A		No	ClinGen ExAC gnomAD
CA380899033 rs1276603151	615	V>M		No	ClinGen gnomAD
CA380898971 rs1380669188	618	M>V		No	ClinGen TOPMed

No associated diseases with Q9UBU9

6 regional properties for Q9UBU9

Type	Name	Position	InterPro Accession
repeat	Leucine-rich repeat	266 - 287	IPR001611-1
repeat	Leucine-rich repeat	292 - 313	IPR001611-2
domain	Nuclear transport factor 2 domain	387 - 535	IPR002075
domain	TAP C-terminal (TAP-C) domain	556 - 619	IPR005637
domain	Nuclear RNA export factor Tap, RNA-binding domain	119 - 198	IPR015245
domain	Nuclear transport factor 2, eukaryote	382 - 538	IPR018222

Functions

		Description
EC Number
Subcellular Localization	Nucleus Nucleus, nucleoplasm Nucleus speckle Nucleus, nuclear pore complex Nucleus envelope Cytoplasm Cytoplasm, Stress granule	Localized predominantly in the nucleoplasm and at both the nucleoplasmic and cytoplasmic faces of the nuclear pore complex Shuttles between the nucleus and the cytoplasm Travels to the cytoplasm as part of the exon junction complex (EJC) bound to mRNA The association with the TREX complex seems to occur in regions surrounding nuclear speckles known as perispeckles (PubMed:23826332) Nucleus; nuclear rim (PubMed:25662211)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

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.
cytoplasmic stress granule	A dense aggregation in the cytosol composed of proteins and RNAs that appear when the cell is under stress.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nuclear inclusion body	An intranuclear focus at which aggregated proteins have been sequestered.
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.
nuclear RNA export factor complex	A protein complex that contains two proteins (know in several organisms, including Drosophila, as NXF1 and NXF2) and is required for the export of the majority of mRNAs from the nucleus to the cytoplasm; localized in the nucleoplasm and at both the nucleoplasmic and cytoplasmic faces of the nuclear pore complex; shuttles between the nucleus and the cytoplasm.
nuclear speck	A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
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
mRNA binding	Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns.
RNA binding	Binding to an RNA molecule or a portion thereof.

3 GO annotations of biological process

Name	Definition
mRNA export from nucleus	The directed movement of mRNA from the nucleus to the cytoplasm.
poly(A)+ mRNA export from nucleus	The directed movement of poly(A)+ mRNA out of the nucleus into the cytoplasm.
protein transport	The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q1RMS5	NXF1	Nuclear RNA export factor 1	Bos taurus (Bovine)	PR
Q99JX7	Nxf1	Nuclear RNA export factor 1	Mus musculus (Mouse)	PR
Q9XVS7	nxf-1	Nuclear RNA export factor 1	Caenorhabditis elegans	PR

10	20	30	40	50	60
MADEGKSYSE	HDDERVNFPQ	RKKKGRGPFR	WKYGEGNRRS	GRGGSGIRSS	RLEEDDGDVA
70	80	90	100	110	120
MSDAQDGPRV	RYNPYTTRPN	RRGDTWHDRD	RIHVTVRRDR	APPERGGAGT	SQDGTSKNWF
130	140	150	160	170	180
KITIPYGRKY	DKAWLLSMIQ	SKCSVPFTPI	EFHYENTRAQ	FFVEDASTAS	ALKAVNYKIL
190	200	210	220	230	240
DRENRRISII	INSSAPPHTI	LNELKPEQVE	QLKLIMSKRY	DGSQQALDLK	GLRSDPDLVA
250	260	270	280	290	300
QNIDVVLNRR	SCMAATLRII	EENIPELLSL	NLSNNRLYRL	DDMSSIVQKA	PNLKILNLSG
310	320	330	340	350	360
NELKSERELD	KIKGLKLEEL	WLDGNSLCDT	FRDQSTYISA	IRERFPKLLR	LDGHELPPPI
370	380	390	400	410	420
AFDVEAPTTL	PPCKGSYFGT	ENLKSLVLHF	LQQYYAIYDS	GDRQGLLDAY	HDGACCSLSI
430	440	450	460	470	480
PFIPQNPARS	SLAEYFKDSR	NVKKLKDPTL	RFRLLKHTRL	NVVAFLNELP	KTQHDVNSFV
490	500	510	520	530	540
VDISAQTSTL	LCFSVNGVFK	EVDGKSRDSL	RAFTRTFIAV	PASNSGLCIV	NDELFVRNAS
550	560	570	580	590	600
SEEIQRAFAM	PAPTPSSSPV	PTLSPEQQEM	LQAFSTQSGM	NLEWSQKCLQ	DNNWDYTRSA
610
QAFTHLKAKG	EIPEVAFMK