AiPD: Autoinhibited Protein Database

Q9H095

Gene name	IQCG (DRC9)
Protein name	Dynein regulatory complex protein 9
Names	IQ domain-containing protein G
Species	Homo sapiens (Human)
KEGG Pathway	hsa:84223
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-190 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-190 (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

4 structures for Q9H095

Entry ID	Method	Resolution	Chain	Position	Source
4LZX	X-ray	150 A	B	389-423	PDB
4M1L	X-ray	210 A	B	376-435	PDB
8J07	EM	410 A	9	1-443	PDB
AF-Q9H095-F1	Predicted				AlphaFoldDB

361 variants for Q9H095

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1329104850 CA355901577	3	E>K		No	ClinGen gnomAD
TCGA novel	3	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751968754 CA2789087	4	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1370849244 CA355901518	7	E>K		No	ClinGen TOPMed
CA355901497 rs1408834292	8	D>V		No	ClinGen TOPMed
rs1197348956 CA355901491	9	S>P		No	ClinGen gnomAD
CA355901461 rs1262476576	11	L>R		No	ClinGen gnomAD
rs753532390 CA2789084	12	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	15	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA91016694 rs760307626	15	V>I		No	ClinGen Ensembl
TCGA novel	15	V>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763455976 CA355901414	16	W>*		No	ClinGen ExAC TOPMed gnomAD
rs763455976 CA2789082	16	W>L		No	ClinGen ExAC TOPMed gnomAD
rs1212671036 CA355901378	19	E>A		No	ClinGen gnomAD
TCGA novel	19	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA91016683 rs966562955	20	M>V		No	ClinGen TOPMed
rs374529198 COSM1422122 CA2789081	21	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs370218661 CA2789079	22	V>G		No	ClinGen ESP ExAC gnomAD
CA355901345 rs1230948521	22	V>L		No	ClinGen gnomAD
CA355901348 rs1230948521	22	V>M		No	ClinGen gnomAD
rs1278236901 CA355901335	23	S>A		No	ClinGen gnomAD
rs771278759 CA2789075	25	T>I		No	ClinGen ExAC TOPMed gnomAD
rs774348483 CA2789076	25	T>S		No	ClinGen ExAC TOPMed gnomAD
rs761766619 CA2789072	27	E>K		No	ClinGen ExAC TOPMed gnomAD
CA355901285 rs148650727	29	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1476884915 CA355901282	29	P>R		No	ClinGen gnomAD
CA2789070 rs148650727	29	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1480778028 CA355901249	32	V>A		No	ClinGen gnomAD
CA2789067 rs143941603	32	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355901253 rs143941603	32	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355901238 rs1341330996	33	E>D		No	ClinGen gnomAD
rs1198552074 CA355901239	33	E>G		No	ClinGen gnomAD
CA2789065 rs199933675	33	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1198552074 CA355901242	33	E>V		No	ClinGen gnomAD
rs1258650167 CA355901234	34	E>*		No	ClinGen gnomAD
CA91016605 rs867389685	35	E>K		No	ClinGen Ensembl
CA2789062 rs143666308	36	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA355901179 rs1294645120	37	I>K		No	ClinGen gnomAD
CA91016593 rs35520644	37	I>V		No	ClinGen Ensembl
rs1166352440 CA355901145	40	E>K		No	ClinGen TOPMed
COSM275582 rs200833541 CA91016592	41	T>A	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA
CA2789061 rs138082435	42	D>A		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA91016586 rs138082435	42	D>G		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA91016576 CA355901063 rs764242804	43	I>L		No	ClinGen TOPMed
CA355901051 rs1340458371	43	I>M		No	ClinGen TOPMed
CA91016572 rs767552025	43	I>R		No	ClinGen ExAC gnomAD
CA2789059 rs767552025	43	I>T		No	ClinGen ExAC gnomAD
rs764242804 CA355901065	43	I>V		No	ClinGen TOPMed
CA2789058 rs759617916	44	E>*		No	ClinGen ExAC gnomAD
CA2789057 rs751550804	44	E>G		No	ClinGen ExAC gnomAD
CA355900949 rs1170587195	49	I>L		No	ClinGen gnomAD
CA2789056 rs147010185	50	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA355900936 rs1464573784	50	P>S		No	ClinGen TOPMed gnomAD
CA355900929 rs1272805405	51	E>*		No	ClinGen TOPMed
rs773272066 CA2789054	51	E>A		No	ClinGen ExAC gnomAD
TCGA novel	54	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355900846 rs1238621003	56	L>P		No	ClinGen gnomAD
rs1197907117 CA355900834	57	S>C		No	ClinGen gnomAD
CA355900800 rs1316028637	60	D>N		No	ClinGen TOPMed gnomAD
rs1200882419 CA355900777	61	V>M		No	ClinGen TOPMed
rs1255211597 CA355900728	64	I>V		No	ClinGen TOPMed
rs1190448357 CA355900710	65	S>A		No	ClinGen TOPMed
CA2789049 rs775265107	65	S>L		No	ClinGen ExAC TOPMed gnomAD
rs142847123 CA2789048	72	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs772285482 CA2789047	73	D>E		No	ClinGen ExAC gnomAD
CA355900559 rs138917059	74	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs566811027 CA2789045	75	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1165513743 CA355900487	79	N>I		No	ClinGen gnomAD
CA2789041 rs754553237	80	Y>*		No	ClinGen ExAC gnomAD
CA91016473 rs919428043	81	I>T		No	ClinGen TOPMed
COSM583327 rs1560113286 CA355900458	81	I>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs148122484 CA2789040	84	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148122484 CA355900417	84	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2789039 rs143691583 CA355900384	86	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2789037 rs374525402	87	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs762027554 CA2789035	90	Q>*		No	ClinGen ExAC gnomAD
rs776851313 CA2789034	92	I>V		No	ClinGen ExAC gnomAD
CA355900314 rs1221573868	93	C>R		No	ClinGen gnomAD
CA2789033 rs550132256	93	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA2789031 COSM236140 rs146833269	94	V>M	Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs771282398 CA2789006	95	K>R		No	ClinGen ExAC gnomAD
rs749706380 CA2789005	98	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs749706380 CA355899549	98	E>K		No	ClinGen ExAC gnomAD
CA91013477 rs542436769	99	M>I		No	ClinGen 1000Genomes
CA91013473 rs369565790	100	N>S		No	ClinGen gnomAD
CA355899418 rs1194045881	104	T>K		No	ClinGen TOPMed
CA355899416 rs1194045881	104	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
COSM730442 CA91013467 rs781318400	104	T>P	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
CA2789004 rs141469670	105	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA355899396 rs145406608	106	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355899368 rs1581065030	107	D>V		No	ClinGen Ensembl
rs746511531 CA2789002	109	L>F		No	ClinGen ExAC gnomAD
CA355899304 rs1413788543	111	M>T		No	ClinGen gnomAD
CA2789001 rs149674426	111	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2789000 VAR_031415 rs9880989	112	A>D		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs377674167 CA91013429	114	T>A		No	ClinGen ESP TOPMed
CA355899245 rs1477868406	115	I>V		No	ClinGen gnomAD
rs780354023 CA91013427	118	I>L		No	ClinGen TOPMed
rs201676602 CA2788997	119	P>S		No	ClinGen ExAC TOPMed gnomAD
CA355899157 rs1484050147	120	S>C		No	ClinGen gnomAD
CA355899130 COSM1694047 rs1231769508	121	P>L	Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
TCGA novel	122	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1209900621 CA355899104	123	I>T		No	ClinGen gnomAD
rs1260567354 CA355899056	126	E>Q		No	ClinGen gnomAD
CA2788995 rs150540903	127	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA355899035 rs150540903	127	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA355899027 rs1266258285	128	P>S		No	ClinGen TOPMed
CA2788993 rs202218844	131	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1416832260 CA355898906	135	H>Q		No	ClinGen TOPMed gnomAD
rs75671851 CA2788990	138	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2788991 rs139671579	138	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766841659 CA2788988	139	F>L		No	ClinGen ExAC TOPMed gnomAD
rs142802587 CA355898846	140	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs142802587 CA2788987	140	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs761509940 CA91013397	140	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1422241916 CA355898817	142	E>K		No	ClinGen gnomAD
CA2788985 rs770285576	144	N>D		No	ClinGen ExAC gnomAD
CA2788984 rs760344275	144	N>S		No	ClinGen ExAC gnomAD
TCGA novel	146	M>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355898719 rs1156345774	147	Q>R		No	ClinGen TOPMed
CA2788982 rs771570790	148	D>E		No	ClinGen ExAC gnomAD
COSM1738882 rs202067997 CA2788983	148	D>G	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA355898682 rs1461676035	150	V>F		No	ClinGen TOPMed
TCGA novel	156	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs923016407 CA91013364	160	M>V		No	ClinGen TOPMed
CA2788979 rs770913753	161	T>S		No	ClinGen ExAC gnomAD
rs148279807 CA2788978	162	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2788976 rs755918980	163	E>G		No	ClinGen ExAC TOPMed gnomAD
rs752919102 CA2788975	164	T>A		No	ClinGen ExAC gnomAD
CA2788973 rs755059639	165	L>P		No	ClinGen ExAC gnomAD
COSM1210854 rs751644796 CA2788972	168	I>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1286570177 CA355898293	170	I>M		No	ClinGen TOPMed
CA355898317 rs1228269865	170	I>V		No	ClinGen TOPMed
TCGA novel	171	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763483844 CA2788970	172	R>K		No	ClinGen ExAC gnomAD
CA355896380 rs1364864687	172	R>S		No	ClinGen TOPMed
rs766985907 CA2788971	172	R>W		No	ClinGen ExAC TOPMed gnomAD
CA355896375 rs1208153857	173	Q>K		No	ClinGen gnomAD
CA355896362 rs1581049659	173	Q>R		No	ClinGen Ensembl
CA2788951 rs370554192	174	F>V		No	ClinGen ExAC TOPMed gnomAD
rs750918833 CA2788950	175	F>L		No	ClinGen ExAC TOPMed gnomAD
CA2788946 rs767196825	177	D>A		No	ClinGen ExAC TOPMed gnomAD
rs767196825 CA2788947	177	D>G		No	ClinGen ExAC TOPMed gnomAD
rs67877771 CA2788948	177	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355896270 rs67877771 COSM1566835	177	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA2788945 rs574325824	178	V>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1035230370 CA91009878	181	D>H		No	ClinGen TOPMed gnomAD
CA2788942 rs373236531	185	E>G		No	ClinGen ESP ExAC gnomAD
rs765829254 CA2788943	185	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	189	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2788939 COSM209449 rs747967606	189	S>L	Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA91009828 rs968809254	192	Y>*		No	ClinGen TOPMed gnomAD
rs1281822739 CA355895856	194	S>T		No	ClinGen TOPMed gnomAD
rs201750105 CA2788936	195	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2788935 rs780453017	196	L>P		No	ClinGen ExAC gnomAD
CA355895817 rs1221670044	197	Q>K		No	ClinGen TOPMed gnomAD
rs529262750 CA91009802	198	A>T		No	ClinGen gnomAD
CA355895723 rs1278317901	200	S>I		No	ClinGen TOPMed gnomAD
CA2788933 rs760654717	201	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs989240999 CA355895671	202	E>*		No	ClinGen TOPMed gnomAD
CA91009787 rs989240999	202	E>K		No	ClinGen TOPMed gnomAD
CA355895431 rs1164602857	209	F>L		No	ClinGen TOPMed
rs1396990777 CA355895447	209	F>S		No	ClinGen gnomAD
CA355895370 rs1402019766	211	D>G		No	ClinGen gnomAD
CA2788932 rs745993702	212	I>V		No	ClinGen ExAC gnomAD
rs116780041 CA2788931	213	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775877928 CA2788916	218	K>E		No	ClinGen ExAC gnomAD
CA2788915 rs772362274	218	K>N		No	ClinGen ExAC
CA2788914 rs140573176	219	G>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA2788913 rs140573176	219	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	219	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1435569333 CA355893233	220	R>I		No	ClinGen gnomAD
rs771028787 CA2788912	221	K>E		No	ClinGen ExAC gnomAD
rs778308407 CA355893112	222	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs749805408 CA2788911	222	Q>L		No	ClinGen ExAC gnomAD
CA2788909 rs538727902	223	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs779689643 CA2788907	224	I>M		No	ClinGen ExAC gnomAD
CA2788908 rs753007367	224	I>V		No	ClinGen ExAC gnomAD
rs758117491 CA2788906	225	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1453378306 CA355892900	227	Q>K		No	ClinGen TOPMed
CA355892822 rs1581037533	229	Q>H		No	ClinGen Ensembl
CA2788905 rs750065772	231	I>T		No	ClinGen ExAC gnomAD
rs1324334934 CA355892732	233	V>I		No	ClinGen gnomAD
CA2788903 rs761357240	236	E>A		No	ClinGen ExAC TOPMed gnomAD
CA2788904 rs764704560	236	E>K		No	ClinGen ExAC gnomAD
CA2788902 rs753752025	237	W>*		No	ClinGen ExAC TOPMed gnomAD
CA91006775 rs1041433337	237	W>R		No	ClinGen TOPMed
CA2788900 rs760560507	240	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs766569781 CA2788878	243	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1241838517 CA355889486	244	Q>H		No	ClinGen gnomAD
CA355889491 rs1488440221	244	Q>R		No	ClinGen gnomAD
rs762951987 CA2788877	246	E>D		No	ClinGen ExAC gnomAD
CA355889466 rs1214126745	246	E>V		No	ClinGen gnomAD
rs773411538 CA2788876	247	Y>H		No	ClinGen ExAC gnomAD
rs138861904 CA2788875	248	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1219232456 CA355889449	248	I>V		No	ClinGen gnomAD
CA355889421 rs1560092815	251	L>F		No	ClinGen Ensembl
rs748706015 CA2788874	253	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1468192798 CA355889398	253	D>N		No	ClinGen TOPMed
rs1024905046 CA90999811	254	Q>K		No	ClinGen TOPMed gnomAD
rs1340162657 CA355889357	257	E>K		No	ClinGen gnomAD
rs1040359452 CA90999801	258	M>T		No	ClinGen Ensembl
rs1267979673 CA355889313	259	K>R		No	ClinGen TOPMed
CA2788873 rs777094497	260	A>E		No	ClinGen ExAC gnomAD
rs1288001612 CA355889307	260	A>T		No	ClinGen TOPMed gnomAD
CA2788872 rs769042651	261	K>Q		No	ClinGen ExAC gnomAD
CA355889269 rs1469263113	263	N>S		No	ClinGen gnomAD
CA355889250 rs1426561868	264	L>F		No	ClinGen gnomAD
CA355889232 rs1282126851	265	E>D		No	ClinGen TOPMed
rs1581012150 CA355889204	267	R>C		No	ClinGen Ensembl
CA2788871 rs141338847	267	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA2788870 rs778444674	268	Y>C		No	ClinGen ExAC gnomAD
CA2788869 rs756867292	269	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1291959446 CA355889102	273	T>N		No	ClinGen TOPMed gnomAD
CA355889099 rs1185081980	274	E>K		No	ClinGen gnomAD
CA2788867 rs777399122	277	I>V		No	ClinGen ExAC gnomAD
CA90999760 rs894568803	278	A>D		No	ClinGen TOPMed
CA355888997 rs1460393153	279	Q>*		No	ClinGen TOPMed gnomAD
CA2788866 rs755662222	279	Q>R		No	ClinGen ExAC gnomAD
rs752719799 CA2788865	283	K>E		No	ClinGen ExAC gnomAD
rs766030244 CA2788863	284	C>F		No	ClinGen ExAC TOPMed gnomAD
rs766030244 CA2788864	284	C>S		No	ClinGen ExAC TOPMed gnomAD
rs766030244 CA355888912	284	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA355888898 rs1560092623	285	N>D		No	ClinGen Ensembl
CA355888893 rs1230311014	285	N>S		No	ClinGen gnomAD
CA90999698 rs200623949	289	E>*		No	ClinGen gnomAD
rs766087970 CA2788859	291	L>V		No	ClinGen ExAC gnomAD
rs1403853760 CA355888749	294	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs763297231 CA2788858	295	I>F		No	ClinGen ExAC gnomAD
CA355888728 rs1465699857	295	I>M		No	ClinGen gnomAD
rs1160224921 CA355888732	295	I>T		No	ClinGen TOPMed
rs1345659244 CA355888156	298	L>F		No	ClinGen gnomAD
CA355888145 rs1302144142	299	R>K		No	ClinGen TOPMed gnomAD
CA355888140 rs1422407132	299	R>S		No	ClinGen gnomAD
rs1362820940 CA355888124	301	K>Q		No	ClinGen gnomAD
CA2788831 rs775838393	303	E>A		No	ClinGen ExAC gnomAD
rs1159649096 CA355888108	303	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs201272635 CA355888096	304	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2788830 rs201272635	304	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759777833 CA355888071 CA2788829	305	E>D		No	ClinGen ExAC
TCGA novel	306	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA90998404 rs942255905	307	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA2788827 rs151126155	307	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs935767501 CA90998401	308	T>S		No	ClinGen Ensembl
TCGA novel	309	H>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1455736611 CA355888038	309	H>R		No	ClinGen TOPMed
TCGA novel	311	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000895111 CA2788825 rs36078246	313	E>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2788824 rs780910943	315	F>I		No	ClinGen ExAC gnomAD
CA355887937 rs1368445593	316	L>R		No	ClinGen TOPMed
rs983994327 CA90998350	318	K>R		No	ClinGen TOPMed
CA2788821 rs747009729	320	Q>*		No	ClinGen ExAC gnomAD
CA90998349 rs1038688801	321	Q>H		No	ClinGen TOPMed gnomAD
rs1329048521 CA355886140	324	E>A		No	ClinGen gnomAD
rs771839977 CA2788800	328	E>G		No	ClinGen ExAC gnomAD
rs745801805 CA2788799	329	F>V		No	ClinGen ExAC gnomAD
rs374017421 CA90984682	331	M>I		No	ClinGen ESP TOPMed gnomAD
rs1325167541 CA355886060	331	M>K		No	ClinGen gnomAD
rs1580961976 CA355886063	331	M>V		No	ClinGen Ensembl
CA355886048 rs1461944275	332	E>G		No	ClinGen TOPMed gnomAD
CA355886023 rs202054380	334	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA90984677 rs866430019	335	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA2788797 rs149039509	336	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1237008142 CA355885993	337	D>G		No	ClinGen TOPMed
rs776095112 CA90984662	337	D>Y		No	ClinGen Ensembl
CA2788796 rs754099871	338	T>R		No	ClinGen ExAC gnomAD
rs756238722 CA2788794	340	M>K		No	ClinGen ExAC gnomAD
rs867464184 CA90984647	341	K>Q		No	ClinGen Ensembl
CA90984644 rs904218157	342	Q>*		No	ClinGen Ensembl
CA355885933 rs752658947	342	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA2788792 rs768068510	343	N>S		No	ClinGen ExAC gnomAD
CA2788791 rs755606408	344	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1382584979 CA355885918	344	E>K		No	ClinGen gnomAD
rs1449704560 CA355885904	345	L>Q		No	ClinGen gnomAD
CA355885884 rs1336404765	347	A>S		No	ClinGen gnomAD
TCGA novel	350	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200905829 CA2788787	356	L>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355885748 rs1251163666	360	Q>E		No	ClinGen gnomAD
CA2788784 rs760239193	361	D>E		No	ClinGen ExAC gnomAD
rs1232902775 CA355885726	363	A>E		No	ClinGen gnomAD
rs1232902775 CA355885724 COSM3847210	363	A>V	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA2788782 rs771599235	365	M>V		No	ClinGen ExAC gnomAD
CA355885368 rs1302114652	366	I>T		No	ClinGen gnomAD
CA355885375 rs1317984549	366	I>V		No	ClinGen gnomAD
rs980669523 CA90983764	368	E>D		No	ClinGen TOPMed gnomAD
rs749083179 CA2788753	368	E>G		No	ClinGen ExAC gnomAD
rs374289605 CA2788751	374	I>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374289605 CA2788750 COSM446291	374	I>T	Variant assessed as Somatic; 4.622e-05 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1406725230 CA355885233	375	E>D		No	ClinGen TOPMed
CA2788748 rs755133068	375	E>K		No	ClinGen ExAC TOPMed gnomAD
rs145014960 CA2788747	376	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2788746 rs764055287	377	R>C		No	ClinGen ExAC TOPMed gnomAD
rs764055287 CA90983750	377	R>G		No	ClinGen ExAC TOPMed gnomAD
rs531130178 CA2788744	377	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs531130178 CA355885205	377	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2788745 rs764055287	377	R>S		No	ClinGen ExAC TOPMed gnomAD
CA90983731 rs896565261	378	I>T		No	ClinGen gnomAD
TCGA novel	379	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355885184 rs1159494873	379	E>Q		No	ClinGen TOPMed gnomAD
CA355885161 rs1224808016	380	K>R		No	ClinGen TOPMed
CA355885150 rs1283410234	381	E>D		No	ClinGen TOPMed
CA2788743 rs563603224	381	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA355885134 rs1324862004	383	S>G		No	ClinGen TOPMed
CA355885131 rs1486394971	383	S>N		No	ClinGen gnomAD
CA2788742 rs757610008	383	S>R		No	ClinGen ExAC gnomAD
CA355885082 rs1214241848	387	V>A		No	ClinGen gnomAD
rs1560077017 CA355885086	387	V>L		No	ClinGen Ensembl
rs767106104 CA2788739	389	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs759059297 CA2788738	390	D>N		No	ClinGen ExAC gnomAD
rs1193160087 CA355885022	393	E>K		No	ClinGen gnomAD
CA355884997 rs1478364010	394	L>F		No	ClinGen gnomAD
rs751000611 CA2788736	395	K>Q		No	ClinGen ExAC gnomAD
rs765866502 CA2788735	395	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1580958277 CA355884968	396	S>N		No	ClinGen Ensembl
rs1269404292 CA355884979	396	S>R		No	ClinGen TOPMed gnomAD
TCGA novel	397	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760266485 CA2788733	397	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA355884925 rs1336748341	399	K>*		No	ClinGen TOPMed gnomAD
CA355884930 rs1336748341	399	K>Q		No	ClinGen TOPMed gnomAD
TCGA novel	400	L>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355884516 rs1443355933	401	Q>*		No	ClinGen gnomAD
CA90982818 rs768558024	403	W>*		No	ClinGen ExAC gnomAD
CA2788710 rs768558024	403	W>C		No	ClinGen ExAC gnomAD
rs776635835 CA2788711	403	W>R		No	ClinGen ExAC
rs1177860596 CA355884451	404	W>*		No	ClinGen gnomAD
CA2788709 rs761029279	405	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2788708 rs775824967	405	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1225082562 CA355884431	406	G>R		No	ClinGen gnomAD
CA355884389 rs1467171656	409	I>V		No	ClinGen TOPMed
rs779301526 CA2788705	410	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs372501872 COSM3408558 CA2788706	410	R>W	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs898001861 CA90982799	411	R>G		No	ClinGen TOPMed
CA2788704 rs139605751	411	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA355884357 rs139605751	411	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA355884340 rs1391475516	412	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	412	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1406444244 CA355884329	413	I>T		No	ClinGen gnomAD
CA2788702 rs749750199	413	I>V		No	ClinGen ExAC TOPMed gnomAD
CA549095717 rs1366531769	414	G>P		No	ClinGen gnomAD
CA2788699 rs778164300	417	K>E		No	ClinGen ExAC TOPMed gnomAD
CA355884281 rs778164300	417	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs746700952 CA2788697	418	M>I		No	ClinGen ExAC gnomAD
CA2788698 rs78757533	418	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2788696 rs779635965	420	K>E		No	ClinGen ExAC TOPMed gnomAD
rs757862946 CA2788695	420	K>T		No	ClinGen ExAC gnomAD
CA355884240 rs1580951758	422	K>Q		No	ClinGen Ensembl
CA355884231 rs1269283503	423	V>L		No	ClinGen gnomAD
rs764651984 CA2788693	424	D>N		No	ClinGen ExAC gnomAD
CA355884184 rs1239732388	429	K>E		No	ClinGen gnomAD
TCGA novel	429	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764023133 CA2788690	430	G>R		No	ClinGen ExAC gnomAD
CA549095715 rs1285938396	431	K>R		No	ClinGen gnomAD
CA90982734 rs952992020	432	G>S		No	ClinGen Ensembl
rs1194487396 CA355884148	434	G>R		No	ClinGen TOPMed
CA355884139 rs1345762676	435	K>R		No	ClinGen gnomAD
CA2788688 rs576164721	439	R>*		No	ClinGen ExAC gnomAD
CA2788687 rs775875944	439	R>K		No	ClinGen ExAC gnomAD
rs866984622 CA90982725	440	G>S		No	ClinGen Ensembl
rs1453731592 CA355884095	441	K>N		No	ClinGen gnomAD
rs1560075620 CA355884085	443	K>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs772164472 CA90982719	444	K>R		No	ClinGen TOPMed gnomAD

No associated diseases with Q9H095

1 regional properties for Q9H095

Type	Name	Position	InterPro Accession
binding_site	IQ motif, EF-hand binding site	393 - 422	IPR000048

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Cell projection, cilium, flagellum Cell projection, cilium Cytoplasm, cytoskeleton Cytoplasm, cytoskeleton, flagellum axoneme	First detected in the cytoplasm of pachytene spermatocytes Colocalizes with alpha-tubulin at the manchette in developing spermatids Detected in the flagellum of mature testicular spermatozoa, and in the flagellum and post-acrosomal region of the head of epididymal spermatozoa Detected in cilia in trachea and oviduct
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 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.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
manchette	A tubular array of microtubules that extends from the perinuclear ring surrounding the spermatid nucleus to the flagellar axoneme. The manchette may also contain F-actin filaments.
motile cilium	A cilium which may have a variable arrangement of axonemal microtubules and also contains molecular motors. It may beat with a whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface, such as on epithelial cells that line the lumenal ducts of various tissues; or they may display a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization. Motile cilia can be found in single as well as multiple copies per cell.
sperm flagellum	A microtubule-based flagellum (or cilium) that is part of a sperm, a mature male germ cell that develops from a spermatid.

2 GO annotations of molecular function

Name	Definition
calmodulin binding	Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states.
Hsp70 protein binding	Binding to a Hsp70 protein, heat shock proteins around 70kDa in size.

3 GO annotations of biological process

Name	Definition
cilium organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole.
sperm axoneme assembly	The assembly and organization of the sperm flagellar axoneme, the bundle of microtubules and associated proteins that forms the core of the eukaryotic sperm flagellum, and is responsible for movement.
spermatid development	The process whose specific outcome is the progression of a spermatid over time, from its formation to the mature structure.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q2T9V2	IQCG	Dynein regulatory complex protein 9	Bos taurus (Bovine)	PR
Q80W32	Iqcg	Dynein regulatory complex protein 9	Mus musculus (Mouse)	PR
Q9D3V1	Iqcd	Dynein regulatory complex protein 10	Mus musculus (Mouse)	PR
Q5PQQ6	Iqcg	Dynein regulatory complex protein 9	Rattus norvegicus (Rat)	PR
Q5XIR6	Iqcd	Dynein regulatory complex protein 10	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MEEDSLEDSN	LPPKVWHSEM	TVSVTGEPPS	TVEEEGIPKE	TDIEIIPEIP	ETLEPLSLPD
70	80	90	100	110	120
VLRISAVLED	TTDQLSILNY	IMPVQYEGRQ	SICVKSREMN	LEGTNLDKLP	MASTITKIPS
130	140	150	160	170	180
PLITEEGPNL	PEIRHRGRFA	VEFNKMQDLV	FKKPTRQTIM	TTETLKKIQI	DRQFFSDVIA
190	200	210	220	230	240
DTIKELQDSA	TYNSLLQALS	KERENKMHFY	DIIAREEKGR	KQIISLQKQL	INVKKEWQFE
250	260	270	280	290	300
VQSQNEYIAN	LKDQLQEMKA	KSNLENRYMK	TNTELQIAQT	QKKCNRTEEL	LVEEIEKLRM
310	320	330	340	350	360
KTEEEARTHT	EIEMFLRKEQ	QKLEERLEFW	MEKYDKDTEM	KQNELNALKA	TKASDLAHLQ
370	380	390	400	410	420
DLAKMIREYE	QVIIEDRIEK	ERSKKKVKQD	LLELKSVIKL	QAWWRGTMIR	REIGGFKMPK
430	440
DKVDSKDSKG	KGKGKDKRRG	KKK