AiPD: Autoinhibited Protein Database

Q9UHL0

Gene name	DDX25 (GRTH)
Protein name	ATP-dependent RNA helicase DDX25
Names	DEAD box protein 25, Gonadotropin-regulated testicular RNA helicase
Species	Homo sapiens (Human)
KEGG Pathway	hsa:29118
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)

1-122 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-122 (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

2 structures for Q9UHL0

Entry ID	Method	Resolution	Chain	Position	Source
2RB4	X-ray	280 A	A/B	307-479	PDB
AF-Q9UHL0-F1	Predicted				AlphaFoldDB

394 variants for Q9UHL0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1276120771 CA383198264	2	A>G		No	ClinGen gnomAD
rs1276120771 COSM1203231 CA383198266	2	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA383198273 rs1218968908	3	S>*		No	ClinGen TOPMed gnomAD
CA383198277 rs1218968908	3	S>L		No	ClinGen TOPMed gnomAD
CA383198275 rs1218968908	3	S>W		No	ClinGen TOPMed gnomAD
CA383198285 rs1271879286	4	L>*		No	ClinGen TOPMed gnomAD
rs1271879286 CA383198283	4	L>S		No	ClinGen TOPMed gnomAD
rs983385275 CA230506247	5	L>V		No	ClinGen TOPMed
CA383198308 rs1354095648	6	W>*		No	ClinGen gnomAD
CA230506250 rs1016153260	6	W>C		No	ClinGen TOPMed
rs1370407878 CA383198327	8	G>A		No	ClinGen TOPMed
rs776792225 CA6350805	9	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1172035093 CA383198350	10	A>P		No	ClinGen TOPMed
CA383198363 rs1480825229	11	G>R		No	ClinGen TOPMed
rs577721965 CA230506261	12	A>V		No	ClinGen 1000Genomes
rs1262970744 CA383198394	13	A>V		No	ClinGen TOPMed gnomAD
CA230506264 rs921793354	15	S>T		No	ClinGen TOPMed gnomAD
CA383198433 rs1195722391	16	E>*		No	ClinGen TOPMed gnomAD
rs1195722391 CA383198429	16	E>K		No	ClinGen TOPMed gnomAD
CA383198445 rs762319891	17	R>G		No	ClinGen ExAC TOPMed gnomAD
CA6350806 rs762319891	17	R>W		No	ClinGen ExAC TOPMed gnomAD
rs934866894 CA230506271	18	L>V		No	ClinGen TOPMed gnomAD
rs770345380 CA6350807	19	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1203728169 CA383198485	20	S>G		No	ClinGen TOPMed
CA383198489 rs1325140811	20	S>N		No	ClinGen TOPMed
CA383198509 rs1591513068	21	H>P		No	ClinGen Ensembl
rs1361354832 CA383198514	21	H>Q		No	ClinGen gnomAD
CA383199093 rs1433923259	23	S>*		No	ClinGen gnomAD
rs960286700 CA230506526	25	L>I		No	ClinGen Ensembl
CA383199136 rs1199969981	25	L>R		No	ClinGen gnomAD
CA383199182 rs1432309596	27	Q>*		No	ClinGen TOPMed
rs1476820935 CA383199230	29	R>Q		No	ClinGen gnomAD
CA383199226 rs1431146048	29	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA383199290 rs1169910828	32	L>F		No	ClinGen gnomAD
CA383199296 rs1169910828	32	L>V		No	ClinGen gnomAD
rs1009157248 CA230506529	33	W>C		No	ClinGen TOPMed
rs1162079895 CA383199313	33	W>R		No	ClinGen TOPMed
CA230506532 rs992851814	34	G>D		No	ClinGen TOPMed
CA383199375 rs992851814	34	G>V		No	ClinGen TOPMed
TCGA novel	36	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA230506538 rs1020166167	37	S>R		No	ClinGen TOPMed gnomAD
CA230506542 rs536712689	38	T>N		No	ClinGen 1000Genomes
COSM924587 CA6350821 rs779956961	41	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA230506549 rs553193468	43	I>T		No	ClinGen 1000Genomes
rs1367355597 CA383199709	45	G>C		No	ClinGen gnomAD
rs1424945923 CA383199723	45	G>V		No	ClinGen gnomAD
rs117391447 CA6350826	46	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748581215 CA6350825	46	S>P		No	ClinGen ExAC gnomAD
rs1591513868 CA383199754	47	I>T		No	ClinGen Ensembl
CA383199859 rs1289755164	51	N>S		No	ClinGen gnomAD
rs752871622 CA383199913	53	D>A		No	ClinGen TOPMed gnomAD
CA230506669 rs752871622	53	D>V		No	ClinGen TOPMed gnomAD
CA230506674 rs911752616	54	D>V		No	ClinGen Ensembl
rs1360290856 CA383199977	56	E>K		No	ClinGen gnomAD
CA6350827 rs559195926	58	V>I		No	ClinGen 1000Genomes ExAC
CA230506818 rs994960111	60	D>A		No	ClinGen Ensembl
rs574654222 CA6350835	60	D>H		No	ClinGen 1000Genomes ExAC gnomAD
CA383200872 rs1262437294	62	A>G		No	ClinGen gnomAD
CA383200867 rs1207709250	62	A>T		No	ClinGen gnomAD
rs753857406 CA6350837	67	L>*		No	ClinGen ExAC
rs1461667086 CA383200932	67	L>V		No	ClinGen gnomAD
CA230506827 rs982390964	71	I>T		No	ClinGen TOPMed
CA383200989 rs1235821793	71	I>V		No	ClinGen gnomAD
CA230506830 rs1027648616	72	H>R		No	ClinGen TOPMed gnomAD
rs1015133436 CA230506835	74	S>C		No	ClinGen TOPMed gnomAD
CA6350839 rs766491935	75	L>*		No	ClinGen ExAC gnomAD
rs766491935 CA6350840	75	L>S		No	ClinGen ExAC gnomAD
rs866580031 CA230506845	76	V>A		No	ClinGen TOPMed
rs866580031 CA230506847	76	V>G		No	ClinGen TOPMed
CA383201061 rs1409658882	76	V>I		No	ClinGen gnomAD
CA383201111 rs1431400049	79	S>G		No	ClinGen TOPMed gnomAD
rs1160566231 CA383201120	79	S>N		No	ClinGen gnomAD
rs1413129925 CA383201142	80	H>L		No	ClinGen gnomAD
CA6350842 rs371781755	81	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA230506856 rs986047421	81	R>H		No	ClinGen TOPMed gnomAD
rs986047421 CA230506857	81	R>L		No	ClinGen TOPMed gnomAD
rs371781755 CA6350841	81	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1401760917 CA383201156	82	V>M		No	ClinGen TOPMed
CA383201171 rs1565462109	83	E>K		No	ClinGen Ensembl
CA383201244 rs1468655888	88	D>N		No	ClinGen TOPMed
rs1376224906 CA383201268	89	P>R		No	ClinGen gnomAD
rs965877812 CA230506868	91	S>A		No	ClinGen gnomAD
rs1281523273 CA383201298	91	S>C		No	ClinGen gnomAD
rs988388555 CA230506871	92	P>L		No	ClinGen Ensembl
CA383201307 rs1365673936	92	P>S		No	ClinGen gnomAD
rs1443633336 CA383201342	95	S>P		No	ClinGen gnomAD
rs1327024243 CA383201387	98	T>A		No	ClinGen TOPMed gnomAD
rs1205446992 CA383201440	102	L>V		No	ClinGen TOPMed gnomAD
CA6350845 rs202234902	103	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6350844 rs756493172	103	R>W		No	ClinGen ExAC TOPMed gnomAD
rs765152675 CA6350861	105	K>R		No	ClinGen ExAC gnomAD
CA6350863 rs755063075	107	E>G		No	ClinGen ExAC gnomAD
CA383202046 rs1169793334	108	L>*		No	ClinGen gnomAD
rs1327681809 CA383202119	113	Y>*		No	ClinGen TOPMed
rs369400119 CA6350865	113	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	114	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs561704 CA230508138 COSM1352395	115	M>R	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1389389701 CA383202136	115	M>V		No	ClinGen TOPMed
TCGA novel	118	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs559784018 CA6350867	119	R>K		No	ClinGen 1000Genomes ExAC gnomAD
rs559784018 CA383202203	119	R>T		No	ClinGen 1000Genomes ExAC gnomAD
CA6350868 rs749676147	120	P>L		No	ClinGen ExAC gnomAD
CA230508143 rs750901437	121	S>P		No	ClinGen Ensembl
CA383202229 rs1250611763	121	S>Y		No	ClinGen gnomAD
CA383202273 rs1325855770	124	Q>*		No	ClinGen gnomAD
rs1431352903 CA383202277	124	Q>R		No	ClinGen gnomAD
CA6350870 rs757639028	125	E>A		No	ClinGen ExAC gnomAD
rs1361080602 CA383202306	126	M>T		No	ClinGen gnomAD
CA6350872 rs746332620	126	M>V		No	ClinGen ExAC gnomAD
rs771736532 CA6350873	128	L>F		No	ClinGen ExAC gnomAD
rs1261459561 CA383202344	129	P>A		No	ClinGen gnomAD
TCGA novel	129	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM924591 rs1195923479 CA383202366	130	M>I	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs779638503 CA6350874	130	M>V		No	ClinGen ExAC TOPMed gnomAD
CA230508166 rs1038774203	134	H>Y		No	ClinGen Ensembl
CA6350875 rs372038831	135	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA230508262 rs981408761	136	P>H		No	ClinGen TOPMed
CA383202492 rs981408761	136	P>L		No	ClinGen TOPMed
CA6350895 rs746583084	139	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6350896 rs746583084	139	L>V		No	ClinGen ExAC TOPMed gnomAD
CA6350897 rs760523435	140	I>V		No	ClinGen ExAC gnomAD
CA383202642 rs1160026916	144	Q>H		No	ClinGen gnomAD
rs747789315 CA6350898	144	Q>R		No	ClinGen ExAC
rs769507904 CA6350899	145	S>P		No	ClinGen ExAC TOPMed gnomAD
rs369130610 CA6350900	149	K>E		No	ClinGen ESP ExAC TOPMed
CA6350902 rs762895726	151	A>E		No	ClinGen ExAC TOPMed gnomAD
rs762782974 CA230508294	151	A>T		No	ClinGen TOPMed
rs762895726 CA6350901	151	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1565463551 CA383202761	152	A>S		No	ClinGen Ensembl
rs760786704 CA6350904	155	L>F		No	ClinGen ExAC TOPMed gnomAD
rs764182938 CA6350905	157	M>T		No	ClinGen ExAC gnomAD
rs373014424 CA6350906	159	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1273442441 CA383202898	160	R>G		No	ClinGen gnomAD
rs762025546 CA6350907	161	V>I		No	ClinGen ExAC TOPMed gnomAD
CA383202914 rs762025546	161	V>L		No	ClinGen ExAC TOPMed gnomAD
rs765533504 CA6350908	164	L>V		No	ClinGen ExAC gnomAD
TCGA novel	166	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA383202963 rs1206504531	168	P>A		No	ClinGen gnomAD
CA383202967 rs1565463592	168	P>L		No	ClinGen Ensembl
CA230508326 rs941423323	169	Q>H		No	ClinGen Ensembl
rs1195235808 CA383202972	169	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1413483085 CA383203160	170	C>G		No	ClinGen gnomAD
TCGA novel	170	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA383203175 rs1373135706	171	L>F		No	ClinGen gnomAD
rs766802922 CA6350928	172	C>S		No	ClinGen ExAC gnomAD
CA383203209 rs1364498249	174	A>G		No	ClinGen gnomAD
CA6350930 rs575511229	176	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752314091 CA6350933 CA6350934	177	Y>*		No	ClinGen ExAC gnomAD
rs766950394 CA6350931	177	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	179	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	179	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs986062988 CA230509119	180	A>T		No	ClinGen TOPMed
rs544539121 CA230509122	183	T>S		No	ClinGen 1000Genomes
rs1243816726 CA383203365	184	G>A		No	ClinGen gnomAD
CA6350937 rs778609879	185	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6350938 rs760155949	185	R>H		No	ClinGen ExAC TOPMed gnomAD
CA383203433 rs1014149490	188	E>*		No	ClinGen TOPMed gnomAD
CA230509136 rs1014149490	188	E>K		No	ClinGen TOPMed gnomAD
CA230509139 rs192060484	189	Q>*		No	ClinGen 1000Genomes TOPMed gnomAD
CA383203448 rs192060484	189	Q>E		No	ClinGen 1000Genomes TOPMed gnomAD
TCGA novel	190	M>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775284681 CA6350940	192	K>E		No	ClinGen ExAC gnomAD
rs1306195012 CA383203541	192	K>I		No	ClinGen TOPMed gnomAD
TCGA novel	192	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1306195012 CA383203530	192	K>R		No	ClinGen TOPMed gnomAD
CA383203527 rs1306195012	192	K>T		No	ClinGen TOPMed gnomAD
COSM924595 rs1367137965 CA383203565	193	F>L	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
CA383203570 rs1429781222	194	C>G		No	ClinGen gnomAD
rs767965778 CA6350941	194	C>S		No	ClinGen ExAC TOPMed gnomAD
rs769737914 CA6350942	195	V>M		No	ClinGen ExAC gnomAD
rs1165907131 CA383203626	196	D>V		No	ClinGen gnomAD
rs773592199 CA6350943	196	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1367782569 CA383203659	198	Q>*		No	ClinGen TOPMed
CA6350944 rs763229155	199	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA383203703 rs1453434538	200	M>R		No	ClinGen gnomAD
rs1591516976 CA383203749	202	A>V		No	ClinGen Ensembl
COSM1975826 CA6350945 rs766855126	204	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs759810402 CA6350947	204	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs753116733 CA6350949	205	G>R		No	ClinGen ExAC gnomAD
CA383203819 rs1248422507	206	N>K		No	ClinGen gnomAD
rs1427328657 CA383203815	206	N>S		No	ClinGen TOPMed
CA6350951 rs370940701	207	R>Q	Variant assessed as Somatic; 9.283e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs764907857 CA6350972	209	P>A		No	ClinGen ExAC TOPMed gnomAD
rs750021059 CA6350973	209	P>L		No	ClinGen ExAC gnomAD
rs1469293568 CA383204081	212	T>P		No	ClinGen gnomAD
CA6350976 rs751519298	213	D>E		No	ClinGen ExAC TOPMed gnomAD
rs779674719 CA6350975	213	D>G		No	ClinGen ExAC TOPMed gnomAD
CA230509512 rs746358649	213	D>N		No	ClinGen TOPMed gnomAD
rs1430532000 CA383204135	214	I>V		No	ClinGen gnomAD
CA383204174 rs1471007240	216	K>Q		No	ClinGen TOPMed gnomAD
rs1326919929 CA383204268	220	I>T		No	ClinGen gnomAD
CA383204279 rs1378266043	221	G>R		No	ClinGen TOPMed
rs754816491 CA6350977	222	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1591517425 CA383204347	224	G>E		No	ClinGen Ensembl
CA6350979 rs749449766	225	T>I		No	ClinGen ExAC TOPMed gnomAD
rs573054868 CA230509542	226	V>A		No	ClinGen gnomAD
rs771107038 CA6350980	226	V>F		No	ClinGen ExAC gnomAD
CA383204392 rs1420683985	227	L>V		No	ClinGen gnomAD
CA383204510 rs1282563934	232	K>E		No	ClinGen gnomAD
CA383204546 rs1346472891	233	L>P		No	ClinGen TOPMed
CA383204636 rs1449379502	237	D>G		No	ClinGen TOPMed gnomAD
rs889271982 CA230509554	241	I>N		No	ClinGen TOPMed
CA6350983 rs150771661	242	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA230509564 rs937612295	242	R>S		No	ClinGen Ensembl
CA383204743 rs1246530552	243	V>A		No	ClinGen TOPMed
TCGA novel	245	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1253479504 CA383204964	253	I>F		No	ClinGen gnomAD
rs1489964329 CA383204966	253	I>T		No	ClinGen gnomAD
rs1199080689 CA383205020	257	G>R		No	ClinGen gnomAD
CA6350985 rs368172264	258	F>S		No	ClinGen ExAC TOPMed gnomAD
rs1591517489 CA383205039	258	F>V		No	ClinGen Ensembl
rs368172264 CA230509578	258	F>Y		No	ClinGen ExAC TOPMed gnomAD
rs1166271578 CA383205107	261	H>P		No	ClinGen gnomAD
rs1166271578 CA383205110	261	H>R		No	ClinGen gnomAD
rs200925977 CA6350988	262	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA6350990 rs764678102	264	R>C	Variant assessed as Somatic; 4.652e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6350991 rs75377442	264	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs75377442 CA230509591	264	R>L		No	ClinGen ExAC TOPMed gnomAD
rs766209851 CA6350993	266	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA383205226 rs1296526313	266	Q>R		No	ClinGen TOPMed
CA383206295 rs1241318227	268	A>T		No	ClinGen gnomAD
CA383206327 rs1591519888	270	P>L		No	ClinGen Ensembl
rs767376280 CA6351014	272	E>K		No	ClinGen ExAC TOPMed gnomAD
CA383206407 rs1156584393	275	M>I		No	ClinGen gnomAD
CA230511816 rs371915891	276	L>F		No	ClinGen ESP TOPMed gnomAD
TCGA novel	277	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1565466747 CA383206453	279	S>*		No	ClinGen Ensembl
CA6351017 rs370049057	284	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA6351019 rs372660107	285	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1279327106 CA383206532	287	W>*		No	ClinGen gnomAD
CA6351020 rs780186824	287	W>*		No	ClinGen ExAC gnomAD
CA383206548 rs1352083755	289	F>C		No	ClinGen gnomAD
CA383206556 rs1211241804	290	A>V		No	ClinGen TOPMed
rs747182884 CA6351021	291	E>G		No	ClinGen ExAC gnomAD
CA6351022 rs755366877	292	R>*		No	ClinGen ExAC gnomAD
rs375780207 CA6351023	292	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA230511845 rs369309099	297	P>R		No	ClinGen ESP TOPMed
rs770262163 CA6351025	298	N>D		No	ClinGen ExAC gnomAD
rs1258606662 CA383206602	298	N>T		No	ClinGen gnomAD
CA383206607 rs1436291646	299	V>I		No	ClinGen gnomAD
rs1362988913 CA383206618	300	I>M		No	ClinGen TOPMed gnomAD
rs773766991 CA6351026	300	I>T		No	ClinGen ExAC TOPMed gnomAD
CA6351027 rs201774241	303	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs770456489 CA6351029	303	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6351028 rs770456489	303	R>L		No	ClinGen ExAC TOPMed gnomAD
CA383206638 rs1322706139	304	K>E		No	ClinGen TOPMed
rs767427755 CA6351031	311	N>D		No	ClinGen ExAC gnomAD
CA383206697 rs1393684896	312	I>T		No	ClinGen TOPMed
rs549319796 CA6351034	313	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA6351033 rs377547552	313	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs763976592 CA6351035	315	Y>C		No	ClinGen ExAC gnomAD
rs1281949090 CA383206712	315	Y>H		No	ClinGen gnomAD
TCGA novel	316	Y>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6351036 rs200202882	317	V>M		No	ClinGen ExAC TOPMed gnomAD
CA383206735 rs1337752883	318	L>P		No	ClinGen gnomAD
CA383206739 rs1251465502	319	C>F		No	ClinGen TOPMed gnomAD
CA6351037 rs762964204	319	C>R		No	ClinGen ExAC gnomAD
rs766440735 CA6351038	320	E>D		No	ClinGen ExAC gnomAD
CA6351039 rs751784540	322	R>K		No	ClinGen ExAC gnomAD
rs539417356 CA230511903	324	D>G		No	ClinGen Ensembl
CA230511900 rs371045804	324	D>N		No	ClinGen ESP gnomAD
rs374097266 CA6351041	326	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs753128351 CA230511913	327	Q>E		No	ClinGen ExAC
rs753128351 CA6351042	327	Q>K		No	ClinGen ExAC
CA230511916 rs548080420	327	Q>R		No	ClinGen TOPMed gnomAD
rs200801236 CA230511920	328	A>G		No	ClinGen TOPMed gnomAD
rs1459979445 CA383206800	328	A>S		No	ClinGen gnomAD
rs200801236 CA383206801	328	A>V		No	ClinGen TOPMed gnomAD
TCGA novel	329	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1370731451 CA383206812	330	C>S		No	ClinGen gnomAD
CA383206820 rs778195394	331	N>I		No	ClinGen ExAC TOPMed gnomAD
rs778195394 CA6351044	331	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	331	N>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6351046 rs770382761	333	Y>*		No	ClinGen ExAC gnomAD
CA383206834 rs1324029813	333	Y>C		No	ClinGen TOPMed
CA6351047 rs778503027	335	S>R		No	ClinGen ExAC gnomAD
rs1226699092 CA383206851	336	I>V		No	ClinGen gnomAD
CA383206867 rs1207115258	338	I>T		No	ClinGen gnomAD
CA6351050 rs775249786	340	Q>*		No	ClinGen ExAC gnomAD
rs760593355 CA6351051	341	A>P		No	ClinGen ExAC gnomAD
CA383206889 rs1191720552	342	I>V		No	ClinGen gnomAD
rs1012382295 CA230511943	343	I>F		No	ClinGen TOPMed
CA383206914 rs1426221582	345	C>F		No	ClinGen gnomAD
CA383206923 rs1191832748	346	Q>H		No	ClinGen gnomAD
rs371417545 CA6351064	348	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA230512520 rs943464566	348	R>H		No	ClinGen TOPMed
CA383207051 rs1336325971	349	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA6351065 COSM1507336 rs373696148	349	R>Q	lung Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs149840641 CA6351066	350	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs746630800 CA6351068	351	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1227732402 CA383207078	351	A>V		No	ClinGen gnomAD
rs1352036335 CA383207106	353	W>L		No	ClinGen TOPMed
rs1228781365 CA383207096	353	W>R		No	ClinGen TOPMed
rs1471224865 CA383207124	354	L>F		No	ClinGen TOPMed gnomAD
CA383207143 rs1304107327	356	V>G		No	ClinGen TOPMed
CA6351069 rs202206859	356	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs761500788 CA6351071	358	M>L		No	ClinGen ExAC TOPMed gnomAD
CA383207163 rs761500788	358	M>V		No	ClinGen ExAC TOPMed gnomAD
CA6351072 rs769791291	361	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA383207222 rs1184001303	362	G>D		No	ClinGen gnomAD
rs1406207615 CA383207259	365	V>A		No	ClinGen TOPMed gnomAD
rs1406207615 CA383207260	365	V>G		No	ClinGen TOPMed gnomAD
CA6351075 rs767539305	370	G>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	371	E>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1468309885 CA383207353	373	T>I		No	ClinGen gnomAD
CA6351077 rs747159948	374	V>M		No	ClinGen ExAC TOPMed gnomAD
CA383207366 rs1450439963	375	E>K		No	ClinGen gnomAD
CA6351078 rs779794319	377	R>*		No	ClinGen ExAC gnomAD
CA6351079 rs754292550	377	R>P		No	ClinGen ExAC gnomAD
CA6351080 rs77363808	378	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1209356197 CA383207430	380	I>T		No	ClinGen TOPMed
CA383207436 rs1331098699	381	I>V		No	ClinGen TOPMed
CA383207444 rs1263512060	382	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs751278992 CA6351082	382	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs1277252841 CA383207453	383	R>M		No	ClinGen TOPMed gnomAD
rs1277252841 CA383207452	383	R>T		No	ClinGen TOPMed gnomAD
CA6351083 rs546549907	385	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	385	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372044033 CA230512576	387	G>E		No	ClinGen ESP TOPMed
CA6351085 rs746654342	387	G>R		No	ClinGen ExAC gnomAD
CA6351086 rs754717450	388	K>R		No	ClinGen ExAC gnomAD
CA383207496 rs1254661058	390	K>E		No	ClinGen gnomAD
rs1479726073 CA383207533	395	T>I		No	ClinGen gnomAD
TCGA novel	396	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6351089 rs769556702	399	A>T		No	ClinGen ExAC gnomAD
CA6351090 rs780888248	400	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6351091 COSM4165692 rs368660177	400	R>Q	kidney [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
rs1209560533 CA383207680	401	G>E		No	ClinGen gnomAD
rs772146244 CA6351092	401	G>R		No	ClinGen ExAC gnomAD
rs770917582 CA6351109	402	I>F		No	ClinGen ExAC TOPMed gnomAD
rs1446639383 CA383207686	402	I>T		No	ClinGen TOPMed
CA383207697 rs1591521913	404	V>M		No	ClinGen Ensembl
rs1213787863 CA383207713	406	Q>*		No	ClinGen gnomAD
rs371641377 CA230513947	406	Q>H		No	ClinGen ESP
CA6351110 rs778679909	408	T>K		No	ClinGen ExAC TOPMed gnomAD
rs768565736 CA6351112	409	I>T		No	ClinGen ExAC TOPMed gnomAD
rs376946234 CA6351111	409	I>V		No	ClinGen ESP ExAC gnomAD
CA383207735 rs1383549164	410	V>F		No	ClinGen gnomAD
rs1398495314 CA383207771	415	L>V		No	ClinGen gnomAD
CA6351114 rs762057597	417	V>I		No	ClinGen ExAC gnomAD
CA6351115 rs770293960	419	Q>H		No	ClinGen ExAC gnomAD
CA230513979 rs886959269	421	E>K		No	ClinGen gnomAD
rs773769866 CA6351116	423	P>L		No	ClinGen ExAC gnomAD
CA383207823 rs1387318214	423	P>T		No	ClinGen gnomAD
rs369057528 CA6351118	424	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA6351119 rs751988751	425	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1244607321 CA383207836	425	Y>H		No	ClinGen gnomAD
rs1359132671 CA383207842	426	E>K		No	ClinGen gnomAD
CA230514001 rs937576108	428	Y>C		No	ClinGen TOPMed
CA383207869 rs1222582410	430	H>Y		No	ClinGen gnomAD
CA6351120 rs759109195	431	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA230514005 rs200623378	431	R>H		No	ClinGen TOPMed gnomAD
rs752401926 CA6351122	432	I>T		No	ClinGen ExAC TOPMed gnomAD
CA6351123 rs755709544	434	R>W		No	ClinGen ExAC TOPMed gnomAD
rs777394498 CA6351124	435	T>M		No	ClinGen ExAC TOPMed gnomAD
rs753704484 CA6351125	437	R>C		No	ClinGen ExAC TOPMed gnomAD
rs757019968 CA6351126	437	R>H		No	ClinGen ExAC gnomAD
CA383207930 rs753704484	437	R>S		No	ClinGen ExAC TOPMed gnomAD
rs745749483 CA6351128	438	F>L		No	ClinGen ExAC gnomAD
CA6351127 rs778929390	438	F>Y		No	ClinGen ExAC gnomAD
CA383207968 rs1591522027	440	K>*		No	ClinGen Ensembl
rs1399667877 CA383207976	440	K>I		No	ClinGen gnomAD
CA383207983 rs1565468794	441	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA6351129 rs768783681	441	K>N		No	ClinGen ExAC TOPMed gnomAD
CA6351130 rs781072940	442	G>A		No	ClinGen ExAC gnomAD
rs748224576 CA6351131	444	A>T		No	ClinGen ExAC gnomAD
CA6351132 rs770207807	445	F>C		No	ClinGen ExAC gnomAD
CA6351133 rs773537035	446	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1475323169 CA383208060	447	M>T		No	ClinGen TOPMed
CA383208077 rs1264348856	448	I>T		No	ClinGen TOPMed
CA383208107 rs1261301835	450	V>E		No	ClinGen gnomAD
rs1489915367 CA383208110	451	D>N		No	ClinGen TOPMed
CA6351136 rs774954753	451	D>V		No	ClinGen ExAC TOPMed gnomAD
rs950130170 CA230514061	452	E>K		No	ClinGen TOPMed
rs180763746 CA6351137	455	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA230514070 rs1047548904	457	M>V		No	ClinGen TOPMed
CA383208269 rs1251081249	463	F>I		No	ClinGen gnomAD
rs986811091 CA230514786	466	S>G		No	ClinGen TOPMed
rs774527842 CA6351156	466	S>N		No	ClinGen ExAC TOPMed gnomAD
CA383208717 rs774527842	466	S>T		No	ClinGen ExAC TOPMed gnomAD
CA6351158 rs772492899	467	I>V		No	ClinGen ExAC TOPMed gnomAD
CA383208765 rs1298552979	469	Q>H		No	ClinGen gnomAD
rs763531991 CA6351161 COSM1203232	472	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6351163 rs753448525	473	E>K		No	ClinGen ExAC TOPMed gnomAD
rs375989070 CA230514820	474	D>E		No	ClinGen ESP TOPMed gnomAD
TCGA novel	474	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	474	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA383208850 rs1446132513	475	M>I		No	ClinGen TOPMed
CA230514823 rs988560998	475	M>T		No	ClinGen gnomAD
TCGA novel	477	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1565469395 CA383208894	478	I>T		No	ClinGen Ensembl
TCGA novel	481	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs978486514 CA230514831	481	I>T		No	ClinGen TOPMed gnomAD
rs758209104 CA6351167	483	Y>C		No	ClinGen ExAC gnomAD

No associated diseases with Q9UHL0

4 regional properties for Q9UHL0

Type	Name	Position	InterPro Accession
domain	Helicase, C-terminal	311 - 478	IPR001650
domain	DEAD/DEAH box helicase domain	122 - 285	IPR011545
domain	Helicase superfamily 1/2, ATP-binding domain	116 - 315	IPR014001
domain	RNA helicase, DEAD-box type, Q motif	97 - 125	IPR014014

Functions

		Description
EC Number	3.6.4.13	Acting on ATP; involved in cellular and subcellular movement
Subcellular Localization	Cytoplasm Nucleus	Detected in both cytoplasm and nucleus of testicular cells Also detected in chromatoid bodies of round spermatids (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
chromatoid body	A ribonucleoprotein complex found in the cytoplasm of male germ cells, composed of exceedingly thin filaments that are consolidated into a compact mass or into dense strands of varying thickness that branch to form an irregular network. Contains mRNAs, miRNAs, and protein components involved in miRNA processing (such as Argonaute proteins and the endonuclease Dicer) and in RNA decay (such as the decapping enzyme DCP1a and GW182).
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.
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.

4 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.
regulation of translation	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA.
spermatid development	The process whose specific outcome is the progression of a spermatid over time, from its formation to the mature structure.

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
Q9UMR2	DDX19B	ATP-dependent RNA helicase DDX19B	Homo sapiens (Human)	PR
Q9NUU7	DDX19A	ATP-dependent RNA helicase DDX19A	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
Q61655	Ddx19a	ATP-dependent RNA helicase DDX19A	Mus musculus (Mouse)	SS
Q9QY15	Ddx25	ATP-dependent RNA helicase DDX25	Mus musculus (Mouse)	PR
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
MASLLWGGDA	GAAESERLNS	HFSNLSQPRK	NLWGIKSTAV	RNIDGSINNI	NEDDEEDVVD
70	80	90	100	110	120
LAANSLLNKL	IHQSLVESSH	RVEVLQKDPS	SPLYSVKTFE	ELRLKEELLK	GIYAMGFNRP
130	140	150	160	170	180
SKIQEMALPM	MLAHPPQNLI	AQSQSGTGKT	AAFVLAMLSR	VNALELFPQC	LCLAPTYELA
190	200	210	220	230	240
LQTGRVVEQM	GKFCVDVQVM	YAIRGNRIPR	GTDITKQIII	GTPGTVLDWC	FKLKLIDLTK
250	260	270	280	290	300
IRVFVLDEAD	VMIDTQGFSD	HSIRIQRALP	SECQMLLFSA	TFEDSVWHFA	ERIIPDPNVI
310	320	330	340	350	360
KLRKEELTLN	NIRQYYVLCE	HRKDKYQALC	NIYGSITIGQ	AIIFCQTRRN	AKWLTVEMIQ
370	380	390	400	410	420
DGHQVSLLSG	ELTVEQRASI	IQRFRDGKEK	VLITTNVCAR	GIDVKQVTIV	VNFDLPVKQG
430	440	450	460	470	480
EEPDYETYLH	RIGRTGRFGK	KGLAFNMIEV	DELPSLMKIQ	DHFNSSIKQL	NAEDMDEIEK

IDY