AiPD: Autoinhibited Protein Database

Q9H568

Gene name	ACTL8
Protein name	Actin-like protein 8
Names	Cancer/testis antigen 57, CT57
Species	Homo sapiens (Human)
KEGG Pathway	hsa:81569
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

199-280 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

199-280 (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 Q9H568

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9H568-F1	Predicted				AlphaFoldDB

303 variants for Q9H568

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1471399177 CA338290341	2	A>T		No	ClinGen gnomAD
rs770919704 CA644073	2	A>V		No	ClinGen ExAC gnomAD
VAR_032079 rs694214 CA644075	3	A>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA338290355 rs694214	3	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA338290365 rs1365074863	4	R>G		No	ClinGen gnomAD
TCGA novel	5	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA18729546 rs773193212	6	V>I		No	ClinGen ExAC TOPMed gnomAD
CA644077 rs773193212	6	V>L		No	ClinGen ExAC TOPMed gnomAD
CA338290413 rs1181640767	7	I>V		No	ClinGen TOPMed
rs977155836 CA18729561	8	I>T		No	ClinGen TOPMed
CA338290475 rs1431684348	11	G>R		No	ClinGen TOPMed
rs561909733 CA644079	12	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1169372922 CA338290490 COSM372509	12	S>Y	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA644080 rs370422420	13	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA644082 rs765904980	19	T>A		No	ClinGen ExAC TOPMed gnomAD
CA644083 rs750983259	19	T>M		No	ClinGen ExAC TOPMed gnomAD
rs747728884 CA644086	21	G>S		No	ClinGen ExAC TOPMed gnomAD
rs749150517 CA644089	23	N>D		No	ClinGen ExAC TOPMed gnomAD
CA18729653 rs368715674	24	E>G		No	ClinGen ESP
CA338290586 rs1233268988	27	M>V		No	ClinGen TOPMed gnomAD
CA18729664 rs371868707	28	V>I		No	ClinGen ESP TOPMed gnomAD
rs368004903 CA18729678	30	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs368004903 CA18729671	30	P>Q		No	ClinGen ESP TOPMed gnomAD
rs928224943 COSM3385493 CA18729695	34	N>S	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1165548069 CA338290648	36	L>V		No	ClinGen TOPMed gnomAD
rs55738309 CA18729712	37	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs55738309 CA644093	37	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA644095 rs546952652	39	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA644096 rs760784948	40	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1314782259 CA338290697	43	G>V		No	ClinGen gnomAD
CA338290703 rs1360879742	44	P>H		No	ClinGen TOPMed gnomAD
rs1293337605 CA338290720	47	A>T		No	ClinGen gnomAD
rs141394572 CA644098	48	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM900517 rs376144648 CA644099	48	R>H	oesophagus endometrium Variant assessed as Somatic; 0.0007854 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs141394572 CA338290727	48	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs930643789 CA18729808	49	R>G		No	ClinGen Ensembl
CA644100 rs765706861	50	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA644102 rs750906555	50	R>H		No	ClinGen ExAC TOPMed gnomAD
rs750906555 CA644101	50	R>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	54	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA644103 rs61748634	55	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1311313155 CA338290772	56	D>A		No	ClinGen TOPMed
rs886522728 CA18729885	56	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	56	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA644105 rs755719223	59	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1398979537 CA338290795	59	H>R		No	ClinGen gnomAD
CA338290794 rs1168544751	59	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA338290804 rs1465193708	60	P>R		No	ClinGen TOPMed
rs1383914234 CA338290813	61	D>E		No	ClinGen TOPMed gnomAD
CA338290809 rs1336491296	61	D>G		No	ClinGen gnomAD
rs1455078916 CA338290820	62	T>A		No	ClinGen gnomAD
CA644106 rs374550449	62	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1455078916 CA338290818	62	T>P		No	ClinGen gnomAD
TCGA novel	65	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs142436980 CA644109 COSM900518	68	E>K	endometrium Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA338290959 rs142436980	68	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
COSM268573 CA338290985 rs1262299679	69	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1201319505 CA338290984	69	R>W		No	ClinGen TOPMed gnomAD
COSM1336898 CA644113 rs201038955	71	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA644112 rs201038955	71	R>L		No	ClinGen ExAC TOPMed gnomAD
rs569028689 CA644114	72	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA644115 rs138844094	73	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA644116 rs762145077	74	N>S		No	ClinGen ExAC TOPMed gnomAD
rs368882714 CA644117	75	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA
CA18730010 rs957968866 CA338291166	76	E>D		No	ClinGen TOPMed gnomAD
rs773765782 CA644118	77	G>C		No	ClinGen ExAC gnomAD
CA338291178 rs1407341997	77	G>D		No	ClinGen TOPMed gnomAD
CA338291172 rs1407341997	77	G>V		No	ClinGen TOPMed gnomAD
CA18730011 rs928368778	78	V>M		No	ClinGen TOPMed gnomAD
rs763359765 CA644119	80	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	87	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1383199879 CA338291507	89	H>D		No	ClinGen TOPMed gnomAD
CA338291510 rs1383199879	89	H>Y		No	ClinGen TOPMed gnomAD
CA644122 rs752015023	91	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA18730038 rs150792142	91	R>W		No	ClinGen ESP TOPMed gnomAD
CA18730054 rs371861959	95	V>A		No	ClinGen ESP gnomAD
CA644123 rs760175883	96	P>R		No	ClinGen ExAC gnomAD
rs115398046 CA644125	97	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1557449414	97	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA644124 rs115398046	97	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs115398046 CA644126	97	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	98	V>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200147694 CA644127 COSM1290059	101	T>M	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA644129 rs758261864	102	E>K		No	ClinGen ExAC TOPMed gnomAD
CA338291886 rs758261864	102	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA338291933 rs1198755899	105	L>*		No	ClinGen gnomAD
rs1481535627 CA338292020	108	P>T		No	ClinGen gnomAD
rs768803261 CA338292068	109	A>E		No	ClinGen ExAC TOPMed gnomAD
rs768803261 CA644132	109	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs115824043 CA644134	111	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1402612543 CA338292124	112	K>T		No	ClinGen gnomAD
rs1309436734 CA338292174	114	M>I		No	ClinGen TOPMed
CA644135 rs770203610	114	M>T		No	ClinGen ExAC gnomAD
rs776113432 CA18732397	119	F>L		No	ClinGen ExAC TOPMed gnomAD
rs971731838 CA18732371	119	F>S		No	ClinGen Ensembl
CA338293195 rs1167679110	120	E>D		No	ClinGen gnomAD
rs1038300304 CA18732409	123	H>R		No	ClinGen TOPMed gnomAD
CA338293289 rs1367812241	123	H>Y		No	ClinGen TOPMed
rs772868348 CA644164	125	P>L		No	ClinGen ExAC gnomAD
rs764664205 CA644163	125	P>S		No	ClinGen ExAC gnomAD
rs1323461105 CA338297102	126	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1212940630 CA338297113	128	L>F		No	ClinGen gnomAD
rs754965301 CA644168	129	L>P		No	ClinGen ExAC gnomAD
CA338297127 rs1352379563	131	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA644170 rs752697516	133	L>V		No	ClinGen ExAC TOPMed gnomAD
CA644172 rs777748476	140	S>C		No	ClinGen ExAC gnomAD
TCGA novel	140	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA644175 rs779323015	145	G>R		No	ClinGen ExAC TOPMed gnomAD
rs746298087 CA644176	147	V>E		No	ClinGen ExAC TOPMed gnomAD
CA338297278 rs1570052459	155	T>P		No	ClinGen Ensembl
CA644179 rs747534774	156	R>C		No	ClinGen ExAC TOPMed
rs372742900 CA338297290	157	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA644180 COSM301624 rs372742900	157	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA338297305 rs1360889975	159	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA338297304 rs1457821744	159	P>S		No	ClinGen gnomAD
rs1570052509 CA338297319	161	H>P		No	ClinGen Ensembl
CA644184 rs774153871	164	R>C		No	ClinGen ExAC TOPMed gnomAD
CA18715256 COSM296268 rs924872941	164	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA338297341 rs924872941	164	R>L		No	ClinGen TOPMed gnomAD
rs377195377 CA338297343	165	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA644185 rs377195377	165	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA644189 COSM357689 rs764213663	168	A>T	lung Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA644191 rs757497146	170	G>S		No	ClinGen ExAC gnomAD
rs778933389 CA644192	170	G>V		No	ClinGen ExAC gnomAD
rs201354656 CA644193	171	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA644194 rs758710012	172	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1570052591 CA338297398	174	E>G		No	ClinGen Ensembl
CA644196 rs747479539	175	F>Y		No	ClinGen ExAC gnomAD
CA644197 rs769088839	176	A>T		No	ClinGen ExAC gnomAD
CA338297416 rs1301360081	177	G>D		No	ClinGen gnomAD
rs540944325 CA644199	177	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA338297421 rs1457359220	178	Q>*		No	ClinGen TOPMed
CA338297445 rs1276989694	181	S>C		No	ClinGen gnomAD
rs759294923 CA644202	182	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs771963695 CA644203	182	A>V		No	ClinGen ExAC gnomAD
rs1218245880 CA338297476	186	K>N		No	ClinGen TOPMed gnomAD
CA644204 rs775475178	186	K>R		No	ClinGen ExAC gnomAD
CA338297484 rs1187133859	187	S>R		No	ClinGen TOPMed
rs760648218 CA644206	188	L>F		No	ClinGen ExAC gnomAD
CA644205 rs760648218 COSM900520	188	L>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA18715335 rs759558816	189	F>L		No	ClinGen Ensembl
rs761739868 CA644209	190	K>E		No	ClinGen ExAC TOPMed gnomAD
rs761739868 CA338297497	190	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA644210 rs765321736	190	K>R		No	ClinGen ExAC gnomAD
rs758656794 CA644212	191	E>A		No	ClinGen ExAC TOPMed gnomAD
rs780370614 CA644213	191	E>D		No	ClinGen ExAC gnomAD
TCGA novel	191	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1166087866 CA338297512	192	D>G		No	ClinGen TOPMed gnomAD
CA644214 rs751974914	192	D>N		No	ClinGen ExAC TOPMed gnomAD
rs755378719 CA644215	194	D>H		No	ClinGen ExAC TOPMed gnomAD
rs755378719 CA18715388 COSM1684872	194	D>N	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA338297524 rs755378719	194	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs748715490 CA644217	195	R>S		No	ClinGen ExAC gnomAD
rs1334179780 CA338297538	196	R>C		No	ClinGen gnomAD
CA644218 rs770308852	196	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA338297552 rs1557450690	198	L>P		No	ClinGen Ensembl
rs1379766983 CA338297578	202	E>A		No	ClinGen gnomAD
CA644219 rs778609112	203	T>A		No	ClinGen ExAC gnomAD
rs745494633 CA644220	203	T>R		No	ClinGen ExAC gnomAD
CA338297592 rs1570052770	204	V>A		No	ClinGen Ensembl
rs372611534 CA644222	205	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA644226 rs142430342	206	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs776381938 CA644225	206	V>M		No	ClinGen ExAC TOPMed gnomAD
CA338297632 rs765268296	210	N>K		No	ClinGen ExAC TOPMed gnomAD
rs560722176 CA644228	213	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
rs985809409 CA18715458	214	V>E		No	ClinGen Ensembl
rs1165059846 CA338297656	214	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA644230 rs376409500	215	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	216	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA644232 rs755252726	216	Q>P		No	ClinGen ExAC gnomAD
rs781646116 CA644233	217	N>D		No	ClinGen ExAC TOPMed gnomAD
rs753114996 CA644234	218	L>V		No	ClinGen ExAC gnomAD
rs745438404 CA644237	219	G>A		No	ClinGen ExAC TOPMed gnomAD
CA644238 rs745438404	219	G>E		No	ClinGen ExAC TOPMed gnomAD
rs778553946 CA644236	219	G>R		No	ClinGen ExAC gnomAD
rs779794365 CA644239	220	E>*		No	ClinGen ExAC gnomAD
rs779794365 CA18715501	220	E>Q		No	ClinGen ExAC gnomAD
rs768293838 CA644241	221	A>D		No	ClinGen ExAC gnomAD
rs746694408 CA338297694	221	A>S		No	ClinGen ExAC TOPMed gnomAD
rs746694408 CA644240	221	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA644242 rs768293838	221	A>V		No	ClinGen ExAC gnomAD
CA644244 rs769777106	222	L>Q		No	ClinGen ExAC gnomAD
rs267598220 CA644248 COSM2096452	225	R>C	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA644247 rs267598220	225	R>G		No	ClinGen ExAC gnomAD
rs1189709622 CA338297717	225	R>H		No	ClinGen TOPMed gnomAD
rs759844551 CA644249	226	E>D		No	ClinGen ExAC gnomAD
CA338297746 rs1206178167	229	Q>R		No	ClinGen gnomAD
rs1426012683 CA338297763	231	A>V		No	ClinGen gnomAD
CA338297772 rs1336471590	233	D>H		No	ClinGen gnomAD
rs757579662 CA644252	234	E>D		No	ClinGen ExAC TOPMed gnomAD
rs764628198 CA644255	241	P>S		No	ClinGen ExAC gnomAD
rs1182735417 COSM677756 CA338297843	243	G>S	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA644257 VAR_032080 rs3795322	245	R>C		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA644258 rs148875551	245	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA338297858 rs148875551	245	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs148049229 CA644260	246	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs780831696 CA644261	249	T>N		No	ClinGen ExAC gnomAD
rs1570052967 CA338297877	249	T>P		No	ClinGen Ensembl
CA644265 rs773088483	250	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA644264 rs773088483	250	P>R		No	ClinGen ExAC TOPMed gnomAD
CA644263 rs769593730	250	P>S		No	ClinGen ExAC TOPMed gnomAD
CA338297888 rs145930628	251	M>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA644267 rs145930628	251	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs532283065 CA644266	251	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA644271 rs751796228	253	R>L		No	ClinGen ExAC TOPMed gnomAD
CA338297902 rs751796228	253	R>P		No	ClinGen ExAC TOPMed gnomAD
rs751796228 CA644270	253	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA338297901 rs1557450888	253	R>W		No	ClinGen Ensembl
TCGA novel	254	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1570053048 CA338297907	254	V>G		No	ClinGen Ensembl
rs761062155 CA644272	254	V>L		No	ClinGen ExAC gnomAD
TCGA novel	256	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA18715626 rs374422437	258	M>V		No	ClinGen ESP
CA18715643 rs202116436	261	S>I		No	ClinGen ExAC TOPMed gnomAD
CA644273 rs202116436	261	S>N		No	ClinGen ExAC TOPMed gnomAD
CA338297972 rs1384837832	264	V>L		No	ClinGen gnomAD
CA18715674 rs141563095	266	E>K		No	ClinGen ESP gnomAD
rs1466750722 CA338297993	267	Q>K		No	ClinGen gnomAD
CA644277 rs751134742	268	P>L		No	ClinGen ExAC TOPMed gnomAD
CA644276 rs765781583	268	P>S		No	ClinGen ExAC gnomAD
rs780827812 CA644279	269	G>R		No	ClinGen ExAC TOPMed gnomAD
CA338298007 rs1303174711	269	G>V		No	ClinGen gnomAD
CA18715691 rs982031545	270	P>S		No	ClinGen TOPMed
CA644280 rs752371892	273	P>L		No	ClinGen ExAC gnomAD
rs755865643 CA644281	274	R>L		No	ClinGen ExAC TOPMed gnomAD
rs755865643 CA338298036	274	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs767773975 CA18715703	274	R>W		No	ClinGen gnomAD
CA18715729 rs993322720	275	A>V		No	ClinGen Ensembl
rs1432768488 CA338298044	276	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	278	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA644284 rs770959636	282	S>A		No	ClinGen ExAC gnomAD
CA338298087 rs1488406470	282	S>C		No	ClinGen TOPMed
TCGA novel	283	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338298103 rs1439815894	284	E>D		No	ClinGen TOPMed
CA644286 rs745895127	284	E>K		No	ClinGen ExAC TOPMed gnomAD
CA338298105 rs1296872246	285	I>V		No	ClinGen gnomAD
CA338298115 rs1435324367	286	S>C		No	ClinGen gnomAD
rs1557450970 CA338298118	287	L>Q		No	ClinGen Ensembl
rs761008927 CA644289	287	L>V		No	ClinGen ExAC TOPMed gnomAD
CA18715814 rs375817792	288	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs777181403 CA644291	288	R>H		No	ClinGen ExAC gnomAD
rs762392628 CA644292	289	P>S		No	ClinGen ExAC gnomAD
CA18715836 rs757732626	294	H>R		No	ClinGen Ensembl
CA644295 rs759041342	294	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA338298158 rs1304594827	295	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1570053277 CA338298170	296	M>I		No	ClinGen Ensembl
rs1333333787 CA338298182	298	C>Y		No	ClinGen TOPMed
CA338298208 rs1240714762	302	T>A		No	ClinGen gnomAD
CA338298229 rs1221808875	305	P>S		No	ClinGen gnomAD
CA338298236 rs1463856177	306	G>E		No	ClinGen gnomAD
rs1290974400 CA338298251	308	T>R		No	ClinGen TOPMed
rs778853933 CA644302	310	R>C		No	ClinGen ExAC gnomAD
rs373308699 CA18715911 COSM900524	310	R>H	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA
CA338298278 rs745814523	313	R>G		No	ClinGen ExAC TOPMed gnomAD
rs772149058 CA644304 CA18715926	316	M>I		No	ClinGen ExAC TOPMed gnomAD
CA338298299 rs1570053353	316	M>V		No	ClinGen Ensembl
CA18715932 rs944111237	317	G>V		No	ClinGen TOPMed
CA18715934 rs868163849	318	D>N		No	ClinGen gnomAD
CA338298327 rs1557451068	320	V>D		No	ClinGen Ensembl
CA644306 rs111936857	320	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144788383 CA18715949	321	S>C		No	ClinGen ESP TOPMed
rs144788383 CA338298333	321	S>F		No	ClinGen ESP TOPMed
TCGA novel	324	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs917502290 CA18715994	324	K>R		No	ClinGen TOPMed
TCGA novel	325	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762198662 CA644309	327	V>I		No	ClinGen ExAC gnomAD
CA18716028 rs762198662	327	V>L		No	ClinGen ExAC gnomAD
CA338298382 rs1189483303	329	E>G		No	ClinGen gnomAD
rs115420942 CA644310	329	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1311426412 CA338298388	330	G>S		No	ClinGen gnomAD
rs1380467590 CA338298396	331	S>C		No	ClinGen gnomAD
CA644311 rs536846096	332	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs980524017 CA18716043	332	N>S		No	ClinGen TOPMed gnomAD
rs767035644 CA644314	334	N>K		No	ClinGen ExAC gnomAD
rs763412983 CA644313	334	N>T		No	ClinGen ExAC gnomAD
CA18716086 rs757265158	341	A>V		No	ClinGen Ensembl
CA338298468 rs1200885978	342	S>C		No	ClinGen gnomAD
CA338298470 rs1461260714	343	V>M		No	ClinGen TOPMed gnomAD
rs1227030555 CA338298480	344	V>A		No	ClinGen TOPMed
rs1180843418 CA338298487	345	A>V		No	ClinGen gnomAD
CA338298495 rs1425238317	346	H>Q		No	ClinGen gnomAD
CA338298490 rs1413868399	346	H>Y		No	ClinGen gnomAD
CA644318 rs763672446	347	L>F		No	ClinGen ExAC gnomAD
CA644317 rs763672446	347	L>I		No	ClinGen ExAC gnomAD
CA338298509 rs1319144416	349	T>N		No	ClinGen TOPMed
CA18716130 rs750884181	350	Y>C		No	ClinGen gnomAD
CA644321 rs764971464	350	Y>H		No	ClinGen ExAC gnomAD
CA644322 rs750342921	352	S>P		No	ClinGen ExAC gnomAD
TCGA novel	353	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780264764 CA18716153	355	M>L		No	ClinGen ExAC gnomAD
rs181142071 CA644325	355	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA644324 rs780264764	355	M>V		No	ClinGen ExAC gnomAD
rs1570053571 CA338298559	356	S>F		No	ClinGen Ensembl
rs929124190 CA18716164	357	R>*		No	ClinGen TOPMed gnomAD
rs755110447 CA644326	357	R>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs755110447 CA644327	357	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA644329 rs770166447	358	E>V		No	ClinGen ExAC gnomAD
CA338298590 rs1211411612	361	G>D		No	ClinGen gnomAD
rs1557451183 CA338298585	361	G>S		No	ClinGen Ensembl
CA644332 rs771496051	363	H>R		No	ClinGen ExAC TOPMed gnomAD
CA18716182 rs1051560004	363	H>Y		No	ClinGen Ensembl
rs774843791 CA644333	364	M>R		No	ClinGen ExAC TOPMed gnomAD
CA338298622 rs1432842235	366	M>L		No	ClinGen gnomAD

No associated diseases with Q9H568

1 regional properties for Q9H568

Type	Name	Position	InterPro Accession
domain	ABT1/ESF2, RNA recognition motif	46 - 149	IPR034353

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytoskeleton
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
dynactin complex	A 20S multiprotein assembly of total mass about 1.2 MDa that activates dynein-based activity in vivo. A large structural component of the complex is an actin-like 40 nm filament composed of actin-related protein, to which other components attach.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name	Definition
epithelial cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of an epithelial cell, any of the cells making up an epithelium.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q32KZ2	ACTL7A	Actin-like protein 7A	Bos taurus (Bovine)	PR
Q9Y614	ACTL7B	Actin-like protein 7B	Homo sapiens (Human)	PR
Q9Y615	ACTL7A	Actin-like protein 7A	Homo sapiens (Human)	PR
Q9QY83	Actl7b	Actin-like protein 7B	Mus musculus (Mouse)	PR
Q4QR76	Actl7b	Actin-like protein 7B	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MAARTVIIDH	GSGFLKAGTA	GWNEPQMVFP	NIVNYLPCKE	NPGPSYARRR	VSLGIDICHP
70	80	90	100	110	120
DTFSYPIERG	RILNWEGVQY	LWSFVLENHR	REQEVPPVII	TETPLREPAD	RKKMLEILFE
130	140	150	160	170	180
LLHVPSVLLA	DQLQMSLYAS	GLLTGVVVDS	GYGLTRVQPF	HQGRPLPASG	KTLEFAGQDL
190	200	210	220	230	240
SAYLLKSLFK	EDCDRRCLFQ	LETVAVTQMN	KCYVPQNLGE	ALDFRERQQS	ALDESNTYQL
250	260	270	280	290	300
PDGSRVELTP	MQRVAPEMFF	SPQVFEQPGP	SIPRAIVESV	ESCEISLRPL	LVSHVMACGG
310	320	330	340	350	360
NTLYPGFTKR	LFRELMGDHV	SSTKATVWEG	SNRNFSVWLG	ASVVAHLSTY	QSEWMSREEY

GEHMRM