AiPD: Autoinhibited Protein Database

Q9NUU7

Gene name	DDX19A (DDX19L)
Protein name	ATP-dependent RNA helicase DDX19A
Names	DDX19-like protein, DEAD box protein 19A
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55308
EC number	3.6.4.13: Acting on ATP; involved in cellular and subcellular movement
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

2-115 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

2-115 (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

1 structures for Q9NUU7

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9NUU7-F1	Predicted				AlphaFoldDB

274 variants for Q9NUU7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1446282217 CA396571096	2	A>T		No	ClinGen TOPMed gnomAD
CA8141796 rs773132234	3	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA396571107 rs1286500941	4	D>N		No	ClinGen gnomAD
CA396571120 rs1224306276	5	S>L		No	ClinGen TOPMed gnomAD
CA396571152 rs1483322875	10	V>A		No	ClinGen TOPMed gnomAD
CA396571153 rs1483322875	10	V>G		No	ClinGen TOPMed gnomAD
rs1255261347 CA396571150	10	V>M		No	ClinGen gnomAD
rs765618719 CA8141801	12	E>*		No	ClinGen ExAC gnomAD
rs1248919682 CA396571213	15	A>V		No	ClinGen gnomAD
TCGA novel	16	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs943649379 CA283482685	16	A>T		No	ClinGen Ensembl
rs753152601 CA8141802	16	A>V		No	ClinGen ExAC TOPMed gnomAD
CA396571233 rs1597515520	17	V>G		No	ClinGen Ensembl
CA396571244 rs1412462590	18	K>T		No	ClinGen gnomAD
CA283485930 rs372158162	21	T>S		No	ClinGen ESP
rs766067366 CA8141846	22	N>Y		No	ClinGen ExAC gnomAD
CA283485941 rs139832768	23	L>F		No	ClinGen ESP TOPMed
CA396571509 rs1208217997	25	I>L		No	ClinGen gnomAD
rs1208217997 CA396571511	25	I>V		No	ClinGen gnomAD
rs778788766 CA8141849	26	K>E		No	ClinGen ExAC TOPMed gnomAD
CA8141850 rs747940238	26	K>T		No	ClinGen ExAC gnomAD
rs758301645 CA8141851	27	E>G		No	ClinGen ExAC gnomAD
CA8141854 rs769877214	29	K>N		No	ClinGen ExAC gnomAD
CA8141852 rs777756349	29	K>Q		No	ClinGen ExAC gnomAD
rs745934900 CA8141853	29	K>T		No	ClinGen ExAC gnomAD
TCGA novel	30	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA283486028 rs886360969	31	K>Q		No	ClinGen Ensembl
CA396571612 rs1161041222	32	A>V		No	ClinGen gnomAD
CA8141858 rs531318121	34	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA8141857 rs531318121	34	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1040625855 CA283486067	35	N>S		No	ClinGen TOPMed gnomAD
rs772565279 CA396549841	36	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs772565279 CA8141879	36	G>V		No	ClinGen ExAC TOPMed gnomAD
rs988490508 CA283427276	37	I>T		No	ClinGen TOPMed
CA8141880 rs773814887	37	I>V		No	ClinGen ExAC gnomAD
rs761286686 CA8141881	38	I>L		No	ClinGen ExAC gnomAD
CA283427301 rs901547101	39	K>T		No	ClinGen Ensembl
CA396549872 rs1282190265	41	S>I		No	ClinGen TOPMed
CA8141882 rs771388403	43	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1345712706 CA396549891	44	A>V		No	ClinGen TOPMed
rs1214795643 CA396549892	45	E>K		No	ClinGen TOPMed gnomAD
CA8141884 rs372167020	49	E>D		No	ClinGen ESP ExAC gnomAD
CA8141883 rs776175093	49	E>K		No	ClinGen ExAC gnomAD
CA396549941 rs1208701902	51	E>G		No	ClinGen gnomAD
CA396549936 rs1358722858	51	E>K		No	ClinGen TOPMed
CA8141885 rs181218630	52	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396549967 rs1597526825	53	E>D		No	ClinGen Ensembl
rs985140733 CA283427776	53	E>G		No	ClinGen Ensembl
rs752305710 CA8141886	53	E>K		No	ClinGen ExAC TOPMed
rs1597526838 CA396549976	54	D>E		No	ClinGen Ensembl
rs761568206 CA8141907	55	R>I		No	ClinGen ExAC TOPMed gnomAD
CA396549989 rs1173500990	57	A>T		No	ClinGen gnomAD
CA283427784 rs111550803	60	L>S		No	ClinGen Ensembl
rs750330770 CA8141909	61	L>I		No	ClinGen ExAC TOPMed gnomAD
CA8141912 rs752871297	65	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1312211441 CA396550057	66	R>G		No	ClinGen gnomAD
rs1295540405 CA396550072	66	R>S		No	ClinGen TOPMed gnomAD
rs758663194 CA8141913	69	L>V		No	ClinGen ExAC gnomAD
rs1231784067 CA396550150	71	D>G		No	ClinGen gnomAD
rs1191585978 CA396550144	71	D>H		No	ClinGen TOPMed
TCGA novel	73	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1366237759 CA396550188	73	T>R		No	ClinGen Ensembl
rs747366110 CA8141916	79	L>P		No	ClinGen ExAC gnomAD
rs757576792 CA8141917	80	Q>K		No	ClinGen ExAC gnomAD
CA396550292 rs1248109706	81	R>G		No	ClinGen TOPMed gnomAD
rs746394824 CA8141919	81	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA396550293 rs1248109706	81	R>W		No	ClinGen TOPMed gnomAD
CA396550305 rs1260787118	83	P>A		No	ClinGen gnomAD
CA8141920 rs769302675	84	N>H		No	ClinGen ExAC TOPMed gnomAD
CA396550325 rs1451860677	86	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	92	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8141924 rs774002056	94	E>G		No	ClinGen ExAC gnomAD
CA396550423 rs756980710	97	R>P		No	ClinGen ExAC TOPMed gnomAD
CA8141928 rs756980710	97	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs375778080 CA8141927	97	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	98	L>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs571327615 CA283431352	100	P>R		No	ClinGen 1000Genomes
rs1233755018 CA396550632	101	Q>E		No	ClinGen Ensembl
CA8141968 rs189131281	101	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1331980748 CA396550654	104	Q>R		No	ClinGen gnomAD
CA8141969 rs754369950	105	G>E		No	ClinGen ExAC TOPMed gnomAD
CA8141970 rs754433388	107	Y>C		No	ClinGen ExAC
CA396550683 rs1301784572	109	M>V		No	ClinGen TOPMed gnomAD
rs778370387 CA396550703	111	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1597533138 CA396550714	113	R>*		No	ClinGen Ensembl
rs747732237 CA8141972	113	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs550531792 CA8141973	114	P>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1268337306 CA396550764	120	N>I		No	ClinGen gnomAD
rs770855681 CA8141976	122	L>F		No	ClinGen ExAC gnomAD
CA396550786 rs1453668783	124	M>V		No	ClinGen TOPMed gnomAD
CA8141978 rs759570897	125	M>L		No	ClinGen ExAC gnomAD
CA396550795 rs759570897	125	M>V		No	ClinGen ExAC gnomAD
CA396550802 rs1374226260	126	L>I		No	ClinGen gnomAD
rs1460037941 CA396550814	128	E>K		No	ClinGen gnomAD
CA283431406 rs374415121	129	P>L		No	ClinGen ESP gnomAD
rs745701104 CA8141997	131	Q>P		No	ClinGen ExAC gnomAD
CA396550991 rs1330146811	133	L>V		No	ClinGen gnomAD
TCGA novel	141	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200983393 CA8141998	144	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775559941 CA8141999	145	A>V		No	ClinGen ExAC
rs868290716 CA283433566	151	M>V		No	ClinGen gnomAD
CA8142001 rs772220711	152	L>F		No	ClinGen ExAC gnomAD
CA396551115 rs1597536752	152	L>H		No	ClinGen Ensembl
CA396551127 rs1185278828	154	R>*		No	ClinGen gnomAD
rs1065162 CA283433583	154	R>Q		No	ClinGen TOPMed gnomAD
CA8142002 rs773255031	157	P>A		No	ClinGen ExAC TOPMed gnomAD
CA283433604 rs894789748	158	S>L		No	ClinGen Ensembl
rs760862027 CA8142003	158	S>T		No	ClinGen ExAC gnomAD
rs754196006 CA8142005	159	D>E		No	ClinGen ExAC gnomAD
rs369403131 CA8142006	160	R>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA396551210 rs1567655537	165	L>V		No	ClinGen Ensembl
rs759828933 CA8142025	168	S>F		No	ClinGen ExAC gnomAD
rs537699457 CA8142028	170	T>A		No	ClinGen ExAC TOPMed gnomAD
COSM369654 rs751113198 CA396551268	174	A>G	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8142030 rs751113198	174	A>V		No	ClinGen ExAC TOPMed gnomAD
rs756888308 CA8142031	175	L>P		No	ClinGen ExAC gnomAD
TCGA novel	180	V>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759821766 CA283433937	180	V>A		No	ClinGen gnomAD
rs1193595084 CA396551314	181	I>M		No	ClinGen gnomAD
rs1488624882 CA396551319	182	E>G		No	ClinGen gnomAD
TCGA novel	185	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs139025377 CA8142034	186	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396551417 rs1486916885	189	P>A		No	ClinGen TOPMed
CA8142036 rs749074446	191	L>R		No	ClinGen ExAC gnomAD
rs1240570718 CA396551484	193	L>F		No	ClinGen TOPMed gnomAD
rs1209455748 CA396551523	195	Y>F		No	ClinGen TOPMed
rs201168154 CA8142040	197	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8142041 COSM1588514 COSM174172 rs776793650	198	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA396551566 rs1438533529	198	R>Q		No	ClinGen gnomAD
CA8142042 rs746124056	200	N>S		No	ClinGen ExAC gnomAD
rs1362641961 CA396551623	201	K>N		No	ClinGen gnomAD
rs143009306 CA283434853	204	R>G		No	ClinGen ESP ExAC gnomAD
CA8142078 rs201189165	206	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1353332274 CA396552760	207	K>E		No	ClinGen TOPMed gnomAD
CA283434863 rs61741988	207	K>M		No	ClinGen TOPMed gnomAD
CA8142079 rs756163761	208	I>M		No	ClinGen ExAC gnomAD
CA8142080 rs780259615	209	S>G		No	ClinGen ExAC gnomAD
CA396552794 rs1213070025	209	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8142082 rs769097524	211	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs749506982 CA8142081	211	Q>R		No	ClinGen ExAC gnomAD
CA8142083 rs779385922	213	V>L		No	ClinGen ExAC gnomAD
rs1463434944 CA396552977	220	V>A		No	ClinGen TOPMed
CA8142088 rs150154889	220	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA396553023 rs1334334210	224	C>G		No	ClinGen gnomAD
CA8142091 rs764910019	224	C>Y		No	ClinGen ExAC gnomAD
CA396553045 rs1337216774	225	S>F		No	ClinGen gnomAD
CA8142093 rs201866549	227	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA8142094 rs371184098	228	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8142095 rs751462303	229	F>S		No	ClinGen ExAC TOPMed gnomAD
rs902583528 CA283434989	230	I>L		No	ClinGen TOPMed
rs902583528 CA283434990	230	I>V		No	ClinGen TOPMed
CA396553180 rs1278233932	234	K>R		No	ClinGen gnomAD
rs1347249119 CA396553197	235	I>M		No	ClinGen gnomAD
TCGA novel	235	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8142096 CA283434992 rs138660103	237	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs138660103 CA8142097	237	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA8142098 rs754002692	239	V>L		No	ClinGen ExAC gnomAD
CA8142100 rs779347305	248	A>D		No	ClinGen ExAC gnomAD
rs748459671 CA8142101	249	T>S		No	ClinGen ExAC
rs767278230 CA283435014	255	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	255	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758849268 CA8142102	259	I>F		No	ClinGen ExAC gnomAD
rs1392654563 CA396553480	260	Q>*		No	ClinGen gnomAD
rs774007815 CA8142129	264	P>S		No	ClinGen ExAC TOPMed gnomAD
CA396553678 rs761739320	265	R>S		No	ClinGen ExAC TOPMed gnomAD
rs771841898 CA8142131	267	C>S		No	ClinGen ExAC gnomAD
TCGA novel	267	C>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773297907 CA8142132 CA396553710	269	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1205676582 CA396553704	269	M>V		No	ClinGen gnomAD
CA8142133 rs759642242	270	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1432653665 CA396553756	277	E>K		No	ClinGen TOPMed
CA8142135 rs752865075	279	S>C		No	ClinGen ExAC gnomAD
CA283435481 rs992244633	285	Q>H		No	ClinGen Ensembl
rs757644761 CA8142139	291	P>R		No	ClinGen ExAC gnomAD
rs1413233150 CA396553867	293	V>I		No	ClinGen TOPMed
CA8142141 rs750947875	297	K>R		No	ClinGen ExAC gnomAD
rs779504912 CA8142143 COSM1379295 COSM1379294	298	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA283435499 rs948081856	298	R>S		No	ClinGen Ensembl
rs1335802171 CA396553927	301	E>D		No	ClinGen TOPMed gnomAD
CA283435500 rs1045025235	302	T>A		No	ClinGen TOPMed gnomAD
rs528223982 CA8142146	303	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396553941 rs1393091670	304	D>G		No	ClinGen gnomAD
CA396553963 rs1215223550	307	K>R		No	ClinGen gnomAD
rs773246101 CA8142149	310	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1185391129 COSM973003 COSM1588513 CA396553992	311	V>G	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA8142150 rs760658896	312	L>P		No	ClinGen ExAC TOPMed gnomAD
CA8142151 rs771041699	316	R>K		No	ClinGen ExAC gnomAD
rs529911319 CA283435565	317	D>A		No	ClinGen gnomAD
TCGA novel	317	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1419671644 CA396554112	320	F>L		No	ClinGen TOPMed gnomAD
rs763159521 CA8142153	322	A>S		No	ClinGen ExAC gnomAD
CA8142155 rs539314354	324	C>F		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	327	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8142158 rs750823073	329	A>S		No	ClinGen ExAC gnomAD
rs1597539502 CA396554246	331	T>P		No	ClinGen Ensembl
rs145971582 CA8142161	331	T>S		No	ClinGen ESP ExAC
CA8142162 rs754533417	333	A>T		No	ClinGen ExAC gnomAD
TCGA novel	335	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1342364539 CA396554294	336	M>I		No	ClinGen TOPMed
rs1198924072 CA396555927	341	T>I		No	ClinGen gnomAD
CA396555933 rs1396585092	342	R>C		No	ClinGen gnomAD
rs1434234705 CA396555936	342	R>H		No	ClinGen TOPMed gnomAD
rs1292372676 CA396555953	343	K>R		No	ClinGen gnomAD
rs776901149 CA8142197	344	T>R		No	ClinGen ExAC gnomAD
CA396555976 rs1218790360	345	A>T		No	ClinGen TOPMed
rs567958200 CA8142198	346	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs910386576 CA283438882	346	S>N		No	ClinGen Ensembl
CA283438902 rs765722278	349	A>S		No	ClinGen ExAC TOPMed gnomAD
CA8142199 rs765722278	349	A>T		No	ClinGen ExAC TOPMed gnomAD
rs752248645 CA8142200	351	E>Q		No	ClinGen ExAC gnomAD
CA396556097 rs1293172500	353	S>A		No	ClinGen TOPMed
TCGA novel	354	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396556150 rs1270647371	358	Q>E		No	ClinGen TOPMed gnomAD
CA396556163 rs1234278581	359	V>M		No	ClinGen gnomAD
rs1275505045 CA396556179	360	A>V		No	ClinGen TOPMed gnomAD
CA8142202 rs200081510	364	G>A		No	ClinGen ExAC TOPMed gnomAD
CA396556251 rs1459842095	367	M>I		No	ClinGen TOPMed
CA396556277 rs1463271862	370	Q>K		No	ClinGen gnomAD
rs1486901361 CA396556293	372	A>S		No	ClinGen gnomAD
rs1567658478 CA396556294	372	A>V		No	ClinGen Ensembl
rs751764652 CA283438915	373	A>S		No	ClinGen Ensembl
CA8142204 rs369358970	373	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA396556312 rs1387477634	375	I>T		No	ClinGen gnomAD
CA396556308 rs1423259877	375	I>V		No	ClinGen TOPMed
TCGA novel	376	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM704331 CA396556322 rs1165311702 COSM1147700	377	R>C	lung Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs745696286 CA8142206	379	R>G		No	ClinGen ExAC TOPMed gnomAD
rs779919677 CA8142208	380	E>A		No	ClinGen ExAC TOPMed gnomAD
CA8142207 rs756060461	380	E>K		No	ClinGen ExAC gnomAD
rs1415034299 CA396556420	391	V>A		No	ClinGen gnomAD
CA8142230 rs771180253	396	I>V		No	ClinGen ExAC gnomAD
rs1441395623 CA396556514	404	V>I		No	ClinGen gnomAD
CA396556525 rs1176735373	405	I>M		No	ClinGen gnomAD
CA8142234 rs776098661	413	K>E		No	ClinGen ExAC TOPMed gnomAD
rs773982724 CA8142237	415	G>R		No	ClinGen ExAC TOPMed gnomAD
rs773982724 CA396556592	415	G>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA396556609 rs1387824041	417	P>L		No	ClinGen TOPMed
CA283439853 rs904718872	418	D>N		No	ClinGen TOPMed gnomAD
rs1402951514 CA396556618	419	N>D		No	ClinGen gnomAD
rs761471443 CA8142238	421	T>N		No	ClinGen ExAC gnomAD
rs1043719853 CA283439873	425	R>Q		No	ClinGen Ensembl
rs201039099 CA8142241	426	I>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	431	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753686017 CA8142243	434	K>R		No	ClinGen ExAC gnomAD
TCGA novel	435	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1196605617 CA396556725	435	R>S		No	ClinGen TOPMed gnomAD
CA8142244 rs754897854	436	G>D		No	ClinGen ExAC gnomAD
CA8142245 rs765227689	441	M>I		No	ClinGen ExAC TOPMed gnomAD
rs751572340 CA8142246	443	D>N		No	ClinGen ExAC gnomAD
rs1454706611 CA396556824	444	S>G		No	ClinGen TOPMed gnomAD
rs1597545205 CA396556924	450	I>T		No	ClinGen Ensembl
rs1056381566 CA283439922	452	N>S		No	ClinGen Ensembl
rs201932985 CA8142247	453	R>S		No	ClinGen 1000Genomes ExAC TOPMed
rs1375438619 CA396556978	454	I>M		No	ClinGen gnomAD
rs1009276347 CA283439943	455	Q>R		No	ClinGen TOPMed
CA396557349 rs1338694829	459	N>K		No	ClinGen TOPMed gnomAD
CA396557365 rs1248822470	461	K>*		No	ClinGen gnomAD
rs750564399 CA8142268	462	I>M		No	ClinGen ExAC TOPMed gnomAD
CA8142267 rs767463047	462	I>T		No	ClinGen ExAC gnomAD
rs1313471654 CA396557380	463	E>Q		No	ClinGen TOPMed gnomAD
CA283440223 rs968184190	464	R>G		No	ClinGen Ensembl
CA8142269 rs756273958	464	R>I		No	ClinGen ExAC gnomAD
rs780487764 CA8142270	466	D>N		No	ClinGen ExAC gnomAD
TCGA novel	468	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755404596 CA8142272	472	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	474	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	474	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA283440264 rs956942046	476	I>M		No	ClinGen Ensembl
rs1205193113 CA396557479	476	I>R		No	ClinGen gnomAD
rs779526007 CA8142273	478	N>I		No	ClinGen ExAC
rs779526007 CA8142274	478	N>T		No	ClinGen ExAC
CA8142276 rs772587103	479	N>G		No	ClinGen ExAC
CA8142279 rs776279983	479	N>L		No	ClinGen ExAC
CA8142278 CA8142277 rs772587103	479	N>R		No	ClinGen ExAC

No associated diseases with Q9NUU7

2 regional properties for Q9NUU7

Type	Name	Position	InterPro Accession
domain	Kinesin motor domain	4 - 337	IPR001752
conserved_site	Kinesin motor domain, conserved site	229 - 240	IPR019821

Functions

		Description
EC Number	3.6.4.13	Acting on ATP; involved in cellular and subcellular movement
Subcellular Localization	Cytoplasm Nucleus, nucleoplasm	Associates with the nuclear pore complex cytoplasmic fibrils
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
cytoplasmic stress granule	A dense aggregation in the cytosol composed of proteins and RNAs that appear when the cell is under stress.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
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
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity	Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
RNA binding	Binding to an RNA molecule or a portion thereof.
RNA helicase activity	Unwinding of an RNA helix, driven by ATP hydrolysis.

1 GO annotations of biological process

Name	Definition
poly(A)+ mRNA export from nucleus	The directed movement of poly(A)+ mRNA out of the nucleus into the cytoplasm.

16 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q2TBP1	DDX25	ATP-dependent RNA helicase DDX25	Bos taurus (Bovine)	PR
Q3ZBV2	DDX19A	ATP-dependent RNA helicase DDX19A	Bos taurus (Bovine)	SS
P38919	EIF4A3	Eukaryotic initiation factor 4A-III	Homo sapiens (Human)	PR
Q9NQI0	DDX4	Probable ATP-dependent RNA helicase DDX4	Homo sapiens (Human)	SS
O15523	DDX3Y	ATP-dependent RNA helicase DDX3Y	Homo sapiens (Human)	SS
O00571	DDX3X	ATP-dependent RNA helicase DDX3X	Homo sapiens (Human)	EV
Q9UHL0	DDX25	ATP-dependent RNA helicase DDX25	Homo sapiens (Human)	PR
Q9UMR2	DDX19B	ATP-dependent RNA helicase DDX19B	Homo sapiens (Human)	PR
P17844	DDX5	Probable ATP-dependent RNA helicase DDX5	Homo sapiens (Human)	PR
O00148	DDX39A	ATP-dependent RNA helicase DDX39A	Homo sapiens (Human)	PR
Q13838	DDX39B	Spliceosome RNA helicase DDX39B	Homo sapiens (Human)	PR
Q9UJV9	DDX41	Probable ATP-dependent RNA helicase DDX41	Homo sapiens (Human)	PR
Q9QY15	Ddx25	ATP-dependent RNA helicase DDX25	Mus musculus (Mouse)	PR
Q61655	Ddx19a	ATP-dependent RNA helicase DDX19A	Mus musculus (Mouse)	SS
Q10RI7	Os03g0158200	DEAD-box ATP-dependent RNA helicase 38	Oryza sativa subsp japonica (Rice)	PR
Q93ZG7	RH38	DEAD-box ATP-dependent RNA helicase 38	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MATDSWALAV	DEQEAAVKSM	TNLQIKEEKV	KADTNGIIKT	STTAEKTDEE	EKEDRAAQSL
70	80	90	100	110	120
LNKLIRSNLV	DNTNQVEVLQ	RDPNSPLYSV	KSFEELRLKP	QLLQGVYAMG	FNRPSKIQEN
130	140	150	160	170	180
ALPMMLAEPP	QNLIAQSQSG	TGKTAAFVLA	MLSRVEPSDR	YPQCLCLSPT	YELALQTGKV
190	200	210	220	230	240
IEQMGKFYPE	LKLAYAVRGN	KLERGQKISE	QIVIGTPGTV	LDWCSKLKFI	DPKKIKVFVL
250	260	270	280	290	300
DEADVMIATQ	GHQDQSIRIQ	RMLPRNCQML	LFSATFEDSV	WKFAQKVVPD	PNVIKLKREE
310	320	330	340	350	360
ETLDTIKQYY	VLCSSRDEKF	QALCNLYGAI	TIAQAMIFCH	TRKTASWLAA	ELSKEGHQVA
370	380	390	400	410	420
LLSGEMMVEQ	RAAVIERFRE	GKEKVLVTTN	VCARGIDVEQ	VSVVINFDLP	VDKDGNPDNE
430	440	450	460	470
TYLHRIGRTG	RFGKRGLAVN	MVDSKHSMNI	LNRIQEHFNK	KIERLDTDDL	DEIEKIAN