AiPD: Autoinhibited Protein Database

Q9Y615

Gene name	ACTL7A
Protein name	Actin-like protein 7A
Names	Actin-like-7-alpha
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10881
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

10-91 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

10-91 (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 Q9Y615

Entry ID	Method	Resolution	Chain	Position	Source
2XQN	X-ray	262 A	A	1-65	PDB
AF-Q9Y615-F1	Predicted				AlphaFoldDB

424 variants for Q9Y615

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1587857521 CA374397893	2	W>*		No	ClinGen Ensembl
CA374397978 rs1356641014	4	P>L		No	ClinGen TOPMed gnomAD
rs1159471897 CA374398004	6	A>E		No	ClinGen TOPMed
rs1223045426 CA374397998	6	A>T		No	ClinGen TOPMed gnomAD
rs1189297901 CA374398070	9	M>T		No	ClinGen TOPMed
rs762310749 CA5173751	9	M>V		No	ClinGen ExAC TOPMed gnomAD
rs867346152 CA197509626	10	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs867346152 CA374398087	10	G>W		No	ClinGen gnomAD
rs529223031 CA197509629	11	D>H		No	ClinGen 1000Genomes
CA5173752 rs150570578	14	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1587857548 CA374398334	19	N>T		No	ClinGen Ensembl
CA5173758 rs541324563	21	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs541324563 CA5173756	21	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs541324563 CA5173757	21	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA197509649 rs958184341	23	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs771019158	23	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	24	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755967608 CA5173762	24	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	26	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs559552010 CA5173763	27	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA197509664 rs769876931	28	L>F		No	ClinGen Ensembl
CA374398653 rs1313385370	29	Q>*		No	ClinGen gnomAD
CA374398659 rs1299604083	29	Q>P		No	ClinGen TOPMed
CA5173765 rs758552714	30	T>I		No	ClinGen ExAC gnomAD
rs533177437 CA5173764	30	T>P		No	ClinGen 1000Genomes ExAC gnomAD
rs780141230 CA5173767	33	L>S		No	ClinGen ExAC TOPMed gnomAD
rs1270002092 CA374398921	35	D>E		No	ClinGen TOPMed gnomAD
rs139566194 CA374398888	35	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA5173770 rs139566194	35	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5173769 rs139566194	35	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA374398931 rs1465178234	36	G>S		No	ClinGen gnomAD
CA5173771 rs149755351	37	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374398980 COSM3745746 rs1473868020	38	A>V	liver [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs748934579 CA5173774	40	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5173773 rs201549336	40	R>W		No	ClinGen ExAC TOPMed gnomAD
rs773885762 CA5173777	41	A>S		No	ClinGen ExAC gnomAD
rs773885762 CA5173776	41	A>T		No	ClinGen ExAC gnomAD
CA197509714 rs201993006	42	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5173780 rs201993006	42	V>M		No	ClinGen ExAC TOPMed gnomAD
CA5173781 rs763809988	43	W>*		No	ClinGen ExAC gnomAD
rs1351806468 CA374399140	44	V>A		No	ClinGen gnomAD
CA5173782 rs753663933	44	V>I		No	ClinGen ExAC gnomAD
rs368653764 CA5173783 VAR_031425	45	R>C		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
CA5173784 rs766550736	45	R>H		No	ClinGen ExAC TOPMed gnomAD
rs751656468 CA5173785	46	H>R		No	ClinGen ExAC gnomAD
CA5173786 rs755073101	47	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA374399247 rs748602710	48	S>C		No	ClinGen ExAC gnomAD
CA5173788 rs748602710	48	S>R		No	ClinGen ExAC gnomAD
CA374399348 rs1443965064	51	P>R		No	ClinGen gnomAD
rs1052161431 CA197509741	56	E>Q		No	ClinGen TOPMed gnomAD
TCGA novel	57	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778239046 CA374399454	57	S>P		No	ClinGen ExAC gnomAD
rs778239046 CA5173791	57	S>T		No	ClinGen ExAC gnomAD
CA197509744 rs377067877	60	A>V		No	ClinGen ESP TOPMed
CA5173792 rs11539309	63	R>M		No	ClinGen ExAC TOPMed gnomAD
CA5173794 rs770583369	65	K>M		No	ClinGen ExAC gnomAD
rs773939955 CA5173796	66	Q>*		No	ClinGen ExAC
CA374399750 rs1486668088	67	E>G		No	ClinGen gnomAD
rs745368118 CA5173797	67	E>Q		No	ClinGen ExAC gnomAD
rs1400270100 CA374399764	68	V>L		No	ClinGen TOPMed
rs1415462225 CA374399783	69	T>I		No	ClinGen gnomAD
CA5173799 rs774984655	71	A>T		No	ClinGen ExAC gnomAD
CA374399866 rs760565593 CA374399867	72	V>L		No	ClinGen ExAC TOPMed gnomAD
rs760565593 CA5173800	72	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1350601168 CA374399890	74	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA374400026 rs1222787608	79	G>A		No	ClinGen gnomAD
CA197509788 rs899277270	80	Y>*		No	ClinGen TOPMed gnomAD
CA374400056 rs1346859683	80	Y>C		No	ClinGen gnomAD
CA5173802 rs776378920	81	C>R		No	ClinGen ExAC TOPMed gnomAD
rs761580697 CA374400074	81	C>S		No	ClinGen ExAC gnomAD
CA5173803 rs761580697	81	C>Y		No	ClinGen ExAC gnomAD
CA374400158 rs1252590171	85	F>L		No	ClinGen TOPMed gnomAD
CA374400159 rs1252590171	85	F>V		No	ClinGen TOPMed gnomAD
TCGA novel	85	F>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1193694293 CA374400194	86	A>G		No	ClinGen TOPMed
rs1587857648 CA374400216	87	G>A		No	ClinGen Ensembl
rs141628854 CA5173807	87	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141628854 CA5173806	87	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778460042 CA5173810	88	L>P		No	ClinGen ExAC gnomAD
rs778460042 CA374400229	88	L>R		No	ClinGen ExAC gnomAD
CA197509823 rs868327211	97	T>K		No	ClinGen Ensembl
COSM268572 rs144590040 CA5173813	98	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs144590040 CA5173814	98	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs746562023 CA5173817	99	V>G		No	ClinGen ExAC TOPMed gnomAD
CA5173816 rs779490600	99	V>L		No	ClinGen ExAC gnomAD
rs568443759 CA5173819	100	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5173818 rs768576884	100	G>R		No	ClinGen ExAC gnomAD
rs770785630 CA5173822	103	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs769411656 CA5173821	103	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA374400529 rs1230858197	103	Y>S		No	ClinGen gnomAD
rs147907148 CA197509874	104	M>I		No	ClinGen ESP TOPMed
rs371037574 CA197509871	104	M>L		No	ClinGen Ensembl
rs759786635 CA5173823	105	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1404665938 CA374400618	106	T>N		No	ClinGen TOPMed
CA5173825 COSM1459188 rs367785686	107	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA374400712 rs1463889256	108	K>N		No	ClinGen TOPMed
CA374400755 rs1193136446	110	G>E		No	ClinGen TOPMed gnomAD
rs1190093308 CA374400780	111	D>E		No	ClinGen TOPMed gnomAD
rs148963985 CA5173830	112	N>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA5173829 rs199971797	112	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779105077 CA5173832	113	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM3395486 CA5173833 rs75408782	113	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed
CA5173831 rs779105077	113	R>S		No	ClinGen ExAC TOPMed gnomAD
CA5173835 rs539671009	117	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs533456952 CA5173837	117	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5173838 rs143697931 COSM1103666	118	V>M	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs772864962 CA5173840	120	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1242911089 CA374401156	121	E>D		No	ClinGen gnomAD
rs1382232851 CA374401131	121	E>K		No	ClinGen gnomAD
CA374401188 rs1350282306	122	L>F		No	ClinGen gnomAD
CA5173842 rs772414552	126	N>D		No	ClinGen ExAC TOPMed gnomAD
CA5173843 rs775908736	126	N>S		No	ClinGen ExAC gnomAD
TCGA novel	127	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1375870029 CA374401410	127	V>D		No	ClinGen TOPMed
CA5173845 rs111824386 COSM1600179	127	V>I	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5173846 rs35760246	128	H>R		No	ClinGen ExAC TOPMed gnomAD
rs755054108 CA197509957	130	K>N		No	ClinGen Ensembl
rs201998656 CA197509953	130	K>R		No	ClinGen 1000Genomes
rs369642057 CA5173847	131	L>M		No	ClinGen ESP ExAC gnomAD
rs1185019604 CA374401621	132	V>I		No	ClinGen gnomAD
CA374401679 rs750782271	133	N>K		No	ClinGen ExAC gnomAD
CA197509964 rs943701054	133	N>Y		No	ClinGen Ensembl
rs758822065 CA5173850	134	P>H		No	ClinGen ExAC TOPMed gnomAD
rs758822065 CA5173851	134	P>L		No	ClinGen ExAC TOPMed gnomAD
CA197509973 rs751148362	136	R>*	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5173853 rs35339416	136	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5173854 rs35339416	136	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374401751 rs1457985353	137	H>R		No	ClinGen TOPMed
CA5173855 rs747746366	137	H>Y		No	ClinGen ExAC gnomAD
CA374401790 rs1394479360	140	I>V		No	ClinGen gnomAD
CA5173858 rs139001396	141	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs770788513 CA5173859	142	D>E		No	ClinGen ExAC gnomAD
CA374401841 rs1438755369	142	D>Y		No	ClinGen TOPMed
rs376602961 CA5173860	143	W>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5173861 rs141548930	144	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA5173862 rs540936096	144	D>V		No	ClinGen 1000Genomes ExAC gnomAD
CA5173864 rs369812697	145	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1194004295 CA374401936	146	V>M		No	ClinGen TOPMed gnomAD
CA5173866 rs137886641	147	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs766691306 CA5173868	148	D>G		No	ClinGen ExAC TOPMed gnomAD
rs754567359 CA374402069	149	I>M		No	ClinGen ExAC TOPMed gnomAD
CA5173869 rs751946245	149	I>N		No	ClinGen ExAC gnomAD
CA374402073 rs767243911 CA5173871	150	W>R		No	ClinGen ExAC TOPMed gnomAD
CA374402135 rs1444140449	152	Y>H		No	ClinGen TOPMed
rs1329222683 CA374402144	152	Y>S		No	ClinGen TOPMed
CA374402179 rs1322821795	153	L>P		No	ClinGen TOPMed
CA5173872 rs373533106	154	F>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs755704105 CA5173873	155	R>*		No	ClinGen ExAC TOPMed gnomAD
CA5173875 rs777158390	155	R>L		No	ClinGen ExAC TOPMed gnomAD
CA5173874 rs777158390	155	R>Q	Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1391063195 CA374402277	157	E>G		No	ClinGen gnomAD
rs143945237 CA5173876	159	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA5173878 VAR_033460 rs35995497	161	A>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs35995497 CA5173880	161	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs35995497 CA5173879	161	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1283273070 CA374402379	161	A>V		No	ClinGen gnomAD
rs147436702 CA5173883	162	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs147436702 CA5173884	162	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5173882 rs769843762	162	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1488712286 CA374402436	164	E>K		No	ClinGen TOPMed
rs965370589 CA197510054 CA374402473	165	H>Q		No	ClinGen TOPMed gnomAD
rs1248946477 CA374402462	165	H>Y		No	ClinGen gnomAD
CA5173887 rs369003397	166	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA374402490 rs369003397	166	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA374402476 rs1182790382	166	A>T		No	ClinGen gnomAD
COSM752137 CA5173886 rs369003397	166	A>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA374402495 rs1326988523	167	V>L		No	ClinGen gnomAD
CA5173890 rs373254329	169	V>A		No	ClinGen ESP ExAC gnomAD
CA374402579 rs373254329	169	V>D		No	ClinGen ESP ExAC gnomAD
CA5173889 rs752340634	169	V>F		No	ClinGen ExAC gnomAD
CA5173891 rs78120441	171	D>A		No	ClinGen ExAC gnomAD
CA374402602 rs1372471127	171	D>E		No	ClinGen TOPMed gnomAD
CA5173892 rs753422693	172	P>A		No	ClinGen ExAC TOPMed gnomAD
CA5173893 rs376522931	172	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA197510074 rs995477765	173	P>S		No	ClinGen Ensembl
rs779034458 CA5173894	174	L>P		No	ClinGen ExAC gnomAD
CA374402659 rs1326250226	175	S>N		No	ClinGen gnomAD
rs1343671052 CA374402747	178	T>I		No	ClinGen gnomAD
TCGA novel	179	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1479483123 CA374402774	180	R>K		No	ClinGen Ensembl
TCGA novel	181	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5173898 rs41278345	183	Y>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5173900 rs531660300	185	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA197510095 rs912315166	186	M>I		No	ClinGen Ensembl
CA374402960 rs1267766770	187	L>M		No	ClinGen gnomAD
rs1448710855 CA374402968	187	L>P		No	ClinGen gnomAD
CA5173901 rs777805475	188	F>L		No	ClinGen ExAC gnomAD
CA5173902 rs370929490	190	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5173903 rs370929490	190	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5173904 rs774892580	193	T>P		No	ClinGen ExAC gnomAD
rs1243988637 CA374403116	193	T>S		No	ClinGen TOPMed
rs759978598 CA5173905	194	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1348237151 CA374403148	195	A>P		No	ClinGen gnomAD
CA197510108 rs757654506	196	M>T		No	ClinGen Ensembl
rs561900425 CA5173906	196	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA374403196 rs1294679981	197	H>Y		No	ClinGen gnomAD
CA197510112 rs763890352	198	I>M		No	ClinGen ExAC TOPMed gnomAD
rs529306263 CA5173908	198	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs753369277 CA5173910	199	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs932206963 CA197510118	200	Y>S		No	ClinGen Ensembl
CA374403327 rs1311351285	201	Q>H		No	ClinGen gnomAD
rs1564200775 CA374403318	201	Q>K		No	ClinGen Ensembl
rs761482848 CA5173911	202	S>L		No	ClinGen ExAC gnomAD
CA5173913 rs750307981	203	R>C		No	ClinGen ExAC TOPMed gnomAD
rs547660889 CA5173914	203	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	205	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756294901 CA5173917	206	M>T		No	ClinGen ExAC TOPMed gnomAD
rs566063853 CA5173916	206	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA374403488 rs1487303986	207	Y>S		No	ClinGen gnomAD
CA5173919 rs778033184	209	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1166103899 CA374403582	212	T>A		No	ClinGen gnomAD
rs1339539132 CA374403589	213	S>A		No	ClinGen TOPMed
rs1335216210 CA374404156	213	S>C		No	ClinGen TOPMed
rs41278347 CA5173922	214	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374404221 rs1322909805	216	V>A		No	ClinGen gnomAD
CA374404253 rs1564200814	217	V>G		No	ClinGen Ensembl
rs772480894 CA5173924	217	V>L		No	ClinGen ExAC gnomAD
rs1301956501 CA374404273	218	E>D		No	ClinGen TOPMed gnomAD
CA374404288 rs1421718869	219	V>A		No	ClinGen TOPMed
rs1421718869 CA374404292	219	V>G		No	ClinGen TOPMed
CA374404282 rs1376339900	219	V>M		No	ClinGen gnomAD
rs1293392277 CA374404309	220	G>A		No	ClinGen gnomAD
rs1293392277 CA374404307	220	G>D		No	ClinGen gnomAD
rs747374066 CA5173926	221	H>Y		No	ClinGen ExAC gnomAD
CA5173928 rs776484063	222	G>V		No	ClinGen ExAC gnomAD
CA5173930 rs529810713	223	V>M		No	ClinGen ExAC TOPMed gnomAD
CA374404393 rs1183906632	224	S>F		No	ClinGen TOPMed
CA374404385 rs1236007831	224	S>T		No	ClinGen gnomAD
rs112558776 CA197510170	225	Y>S		No	ClinGen TOPMed
rs200244439 CA5173932	226	V>M		No	ClinGen ExAC TOPMed gnomAD
CA374404471 rs1411354163	228	P>R		No	ClinGen gnomAD
rs1308056655 CA374404460	228	P>S		No	ClinGen TOPMed
CA374404484 rs1162062190	229	I>L		No	ClinGen gnomAD
CA374404487 rs1274449789	229	I>N		No	ClinGen TOPMed
rs150012135 CA5173935	231	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1454311378 CA374404571	232	G>D		No	ClinGen TOPMed
rs1009064437 CA197510182	232	G>S		No	ClinGen TOPMed
CA5173936 rs767308676	233	Y>H		No	ClinGen ExAC TOPMed
CA374404669 rs1331159767	236	P>R		No	ClinGen TOPMed
rs753997762 CA5173937	237	S>T		No	ClinGen ExAC TOPMed gnomAD
CA374404710 rs1351910106	238	I>N		No	ClinGen gnomAD
CA374404733 rs1312916401	239	T>N		No	ClinGen gnomAD
rs367596635 CA5173938	240	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1414715363 CA374404792	241	R>S		No	ClinGen TOPMed
TCGA novel	243	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
VAR_085430 CA5173940 rs371671871	245	A>T	found in two infertile brothers from a consanguineous family. The brothers present normal semen analysis, but both couples have no embryos for transfer after several IVF and intracytoplasmic sperm injection. The sperm of the affected brothers dysplay acrosomal ultrastructural defects [UniProt]	No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
rs201560933 CA5173941	245	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs777167099 CA374404913	248	D>E		No	ClinGen ExAC
CA5173944 rs769085021	248	D>H		No	ClinGen ExAC gnomAD
CA374404932 rs747753886	249	L>P		No	ClinGen ExAC gnomAD
CA5173946 rs747753886	249	L>Q		No	ClinGen ExAC gnomAD
rs1480890791 CA374404986	252	Y>F		No	ClinGen TOPMed
CA5173947 rs769617223	254	L>P		No	ClinGen ExAC gnomAD
rs769617223 CA374405019	254	L>R		No	ClinGen ExAC gnomAD
rs762434806 CA5173949	255	G>S		No	ClinGen ExAC gnomAD
CA5173950 rs766322447	256	L>M		No	ClinGen ExAC gnomAD
CA5173951 rs774093609	257	L>M		No	ClinGen ExAC gnomAD
rs145223364 CA5173953	258	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA374405101 COSM752136 rs1427334747	258	N>K	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs145223364 CA5173952	258	N>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA197510227 rs377735793	259	S>G		No	ClinGen gnomAD
CA5173954 rs149197750	260	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA374405141 rs1336217267	260	A>T		No	ClinGen gnomAD
CA5173955 rs149197750	260	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5173957 rs750513403	261	G>R		No	ClinGen ExAC gnomAD
TCGA novel	262	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5173960 rs555458305	263	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA374405257 rs1243771076	265	T>I		No	ClinGen gnomAD
rs990785445 CA197510251	267	D>E		No	ClinGen Ensembl
rs914831736 CA197510252	268	Q>E		No	ClinGen Ensembl
rs199528851 CA5173963	270	G>C		No	ClinGen ExAC TOPMed gnomAD
CA374405392 rs748561822	271	I>F		No	ClinGen ExAC gnomAD
CA5173964 rs748561822	271	I>V		No	ClinGen ExAC gnomAD
rs1220060071 CA374405413	272	V>M		No	ClinGen TOPMed gnomAD
rs917330253 CA197510257	274	D>Y		No	ClinGen TOPMed
rs1248795435 CA374405477	275	I>L		No	ClinGen gnomAD
rs1379940182 CA374405570	280	C>G		No	ClinGen TOPMed
CA374405572 rs1379940182	280	C>R		No	ClinGen TOPMed
CA374405576 rs1478592469	280	C>Y		No	ClinGen gnomAD
CA5173967 rs146843085	282	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs146843085 CA5173966	282	V>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs770276281 CA5173968	285	D>V		No	ClinGen ExAC
CA374405642 rs1213896204	285	D>Y		No	ClinGen gnomAD
CA5173969 rs199573828	286	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5173970 rs759425026	286	P>L		No	ClinGen ExAC TOPMed gnomAD
rs199573828 CA197510270	286	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs534632520 CA5173971	287	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	288	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368405366 CA5173973	289	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA5173972 rs113311449	289	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs750553301 CA5173975	290	K>N		No	ClinGen ExAC gnomAD
rs1230932603 CA374405810	292	V>F		No	ClinGen gnomAD
CA5173976 rs372135962	293	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs181434981 CA5173979	295	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs181434981 CA5173978	295	S>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1292721353 CA374405890	296	E>*		No	ClinGen gnomAD
rs140733865 CA5173981	297	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA5173982 rs753096025	298	T>K		No	ClinGen ExAC TOPMed gnomAD
CA5173983 rs753096025	298	T>M		No	ClinGen ExAC TOPMed gnomAD
CA374405965 rs753096025	298	T>R		No	ClinGen ExAC TOPMed gnomAD
CA5173985 rs770746389	300	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM201100 CA5173986 rs770642928	300	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA374405992 rs770642928	300	R>L		No	ClinGen ExAC TOPMed gnomAD
CA374405984 rs770746389	300	R>S		No	ClinGen ExAC TOPMed gnomAD
CA5173987 rs778374873	301	Y>S		No	ClinGen ExAC gnomAD
CA5173989 rs771994683	302	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5173990 rs771994683	302	V>M		No	ClinGen ExAC TOPMed gnomAD
rs887020469 CA197510319	304	P>S		No	ClinGen TOPMed
rs1429929365 CA374406084	305	D>V		No	ClinGen TOPMed
CA374406163 rs1200880767	308	E>*		No	ClinGen TOPMed
rs1179234967 CA374406202	309	I>V		No	ClinGen Ensembl
COSM1103670 CA5173996 rs774567221	315	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs766661773 CA5173995	315	R>W		No	ClinGen ExAC gnomAD
CA374406344 rs1415351333	316	F>C		No	ClinGen TOPMed gnomAD
TCGA novel	319	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA197510345 rs756672338	319	S>A		No	ClinGen ExAC TOPMed gnomAD
CA5174001 rs141606404	319	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5174000 rs756672338	319	S>P		No	ClinGen ExAC TOPMed gnomAD
CA5174002 rs141606404	319	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA197510356 rs996570029	320	E>Q		No	ClinGen Ensembl
CA197510362 rs201879754	321	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5174005 rs745371031	321	M>T		No	ClinGen ExAC TOPMed gnomAD
CA5174004 rs201879754	321	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5174007 rs757847826	325	P>S		No	ClinGen ExAC gnomAD
rs1458676547 CA374406493	326	S>P		No	ClinGen gnomAD
CA374406504 rs1378676527	327	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	329	K>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374406535 rs1384107185	329	K>N		No	ClinGen TOPMed
TCGA novel	331	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374406558 rs1377290212	331	M>R		No	ClinGen TOPMed
CA5174008 rs779544015	331	M>V		No	ClinGen ExAC gnomAD
rs746881341 CA5174009	332	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1336202637 CA374406576	332	Q>H		No	ClinGen gnomAD
rs1409726083 CA374406590	334	G>S		No	ClinGen gnomAD
CA374406635 rs989169864	337	T>I		No	ClinGen TOPMed
CA197510374 rs989169864	337	T>N		No	ClinGen TOPMed
CA5174010 rs745634839	338	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs745634839 CA197510376	338	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs142813052 CA5174013	340	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA5174012 VAR_024362 rs7872077	340	V>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_060998 CA5174014 rs56031956	343	L>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA374406733 rs1453501496	346	C>R		No	ClinGen Ensembl
COSM1181720 CA5174016 rs368815599	349	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs775666120 CA5174017	349	A>V		No	ClinGen ExAC gnomAD
CA5174018 rs761069418	351	K>*		No	ClinGen ExAC gnomAD
CA5174020 rs754152142	352	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5174019 rs763615233	352	R>W		No	ClinGen ExAC TOPMed gnomAD
rs757700013 CA5174021	353	D>N		No	ClinGen ExAC gnomAD
CA374406832 rs1212376546	354	L>V		No	ClinGen gnomAD
rs765600389 CA5174023	355	M>I		No	ClinGen ExAC TOPMed gnomAD
CA374406864 rs1352815793	356	G>E		No	ClinGen gnomAD
CA374406856 rs1306277843	356	G>R		No	ClinGen gnomAD
rs759952745	357	N>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1239761165 CA374406881	357	N>T		No	ClinGen gnomAD
CA5174028 rs779515458	362	G>R		No	ClinGen ExAC TOPMed gnomAD
CA197510440 rs1048387362	365	T>M		No	ClinGen TOPMed
rs781247340 CA5174031	366	M>T		No	ClinGen ExAC TOPMed gnomAD
rs138636206 CA5174033	368	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs138636206 CA5174032	368	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773168581 CA5174034	369	G>C		No	ClinGen ExAC gnomAD
rs746034667 CA5174035	369	G>D		No	ClinGen ExAC gnomAD
rs1338512450 CA374407099	371	P>L		No	ClinGen TOPMed
rs772475262 CA5174036	372	N>K		No	ClinGen ExAC gnomAD
CA5174037 rs775405375	373	R>C		No	ClinGen ExAC gnomAD
CA5174038 COSM1103672 rs758729154	373	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1435462770 CA374407176	376	K>T		No	ClinGen TOPMed gnomAD
rs1449118018 CA374407196	377	E>*		No	ClinGen gnomAD
rs912226594 CA197510462	378	L>V		No	ClinGen TOPMed
CA5174040 rs372604597	379	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs113170447 CA5174042	380	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA197510472 rs750810632	381	M>L		No	ClinGen ExAC gnomAD
CA5174044 rs762561313	381	M>T		No	ClinGen ExAC TOPMed gnomAD
CA5174043 rs750810632	381	M>V		No	ClinGen ExAC gnomAD
rs1444917877 CA374407304	382	C>Y		No	ClinGen TOPMed
rs200711916 CA5174045	383	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1177196551 CA374407329	384	N>S		No	ClinGen TOPMed
CA374407343 rs1251892138	385	D>E		No	ClinGen TOPMed
rs184507726 CA5174047	385	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5174048 rs184507726	385	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA374407350 rs1487541974	386	T>N		No	ClinGen TOPMed
rs930788420 CA197510485	386	T>P		No	ClinGen TOPMed gnomAD
rs76316936 CA5174050	387	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1308799035 COSM1624404 CA374407359	387	P>S	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
CA374407386 rs1587858182	389	V>G		No	ClinGen Ensembl
CA374407390 rs1361912058	390	N>Y		No	ClinGen TOPMed
rs142768089 CA5174053	391	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5174054 rs142768089	391	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA5174056 rs768716390	394	E>G		No	ClinGen ExAC gnomAD
CA374407440 rs1421730096	395	R>G		No	ClinGen TOPMed gnomAD
CA5174058 rs762260566	397	S>R		No	ClinGen ExAC gnomAD
rs776605955 CA5174057	397	S>T		No	ClinGen ExAC gnomAD
rs770324864 CA5174059	398	A>T		No	ClinGen ExAC gnomAD
CA5174062 rs766665155	399	V>A		No	ClinGen ExAC TOPMed gnomAD
CA374407494 rs766665155	399	V>E		No	ClinGen ExAC TOPMed gnomAD
COSM3168833 rs548785692 CA5174061	399	V>M	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs759140056 CA5174064	400	W>*		No	ClinGen ExAC gnomAD
rs767000576 CA374407522	401	T>I		No	ClinGen ExAC gnomAD
rs767000576 CA5174065	401	T>N		No	ClinGen ExAC gnomAD
CA5174068 rs777927399	402	G>S		No	ClinGen ExAC gnomAD
CA374407536 rs151067634	403	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs151067634 CA5174069	403	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs757063598 CA5174070	405	I>L		No	ClinGen ExAC TOPMed gnomAD
rs1273558293 CA374407560	405	I>N		No	ClinGen gnomAD
CA197510551 rs1035904912	410	Q>K		No	ClinGen TOPMed gnomAD
rs778577594 CA5174071	411	G>D		No	ClinGen ExAC gnomAD
rs1209981823 CA374407682	416	W>G		No	ClinGen gnomAD
rs781311712 CA5174074	417	V>I		No	ClinGen ExAC gnomAD
CA374407714 rs1564201208	418	H>Q		No	ClinGen Ensembl
CA5174075 rs748292929	418	H>Y		No	ClinGen ExAC gnomAD
rs770269864 CA5174076	419	R>C		No	ClinGen ExAC TOPMed gnomAD
rs957486229 CA197510565	419	R>H		No	ClinGen TOPMed gnomAD
CA5174077 rs567391469	420	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA374407746 rs1161741798	421	E>D		No	ClinGen gnomAD
rs771282721 CA374407762	423	E>*		No	ClinGen ExAC TOPMed gnomAD
rs771282721 CA5174079	423	E>K		No	ClinGen ExAC TOPMed gnomAD
rs774597225 CA5174080	425	H>N		No	ClinGen ExAC gnomAD
COSM1319672 rs534593253 CA5174082	426	G>R	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA5174083 rs775137726	427	P>H		No	ClinGen ExAC gnomAD
CA374407803 rs1349666432	427	P>T		No	ClinGen TOPMed
rs763714192 CA5174085	429	F>L		No	ClinGen ExAC TOPMed gnomAD
CA197510604 rs768562040	429	F>Y		No	ClinGen TOPMed
CA374407858 rs1286107421	432	R>G		No	ClinGen TOPMed gnomAD
rs753762911 CA5174086	435	F>L		No	ClinGen ExAC gnomAD
rs1254305132 CA374407907	436	F>G		No	ClinGen gnomAD

No associated diseases with Q9Y615

3 regional properties for Q9Y615

Type	Name	Position	InterPro Accession
domain	AMP-dependent synthetase/ligase domain	109 - 543	IPR000873
conserved_site	AMP-binding, conserved site	287 - 298	IPR020845
domain	Acetyl-coenzyme A synthetase, N-terminal domain	47 - 104	IPR032387

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytoskeleton Golgi apparatus Cytoplasm Nucleus Cytoplasmic vesicle, secretory vesicle, acrosome	Detected at the Golgi apparatus during acrosome biogenesis Detected at the subacrosomal layer in round spermatids Detected in sperm head and tail
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
acrosomal vesicle	A structure in the head of a spermatozoon that contains acid hydrolases, and is concerned with the breakdown of the outer membrane of the ovum during fertilization. It lies just beneath the plasma membrane and is derived from the lysosome.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoskeleton	A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
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.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
male germ cell nucleus	The nucleus of a male germ cell, a reproductive cell in males.
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.
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.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.

1 GO annotations of molecular function

Name	Definition
structural constituent of cytoskeleton	The action of a molecule that contributes to the structural integrity of a cytoskeletal structure.

2 GO annotations of biological process

Name	Definition
acrosome assembly	The formation of the acrosome from the spermatid Golgi.
single fertilization	The union of male and female gametes to form a zygote.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q32KZ2	ACTL7A	Actin-like protein 7A	Bos taurus (Bovine)	PR
Q9H568	ACTL8	Actin-like protein 8	Homo sapiens (Human)	PR
Q9Y614	ACTL7B	Actin-like protein 7B	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
MWAPPAAIMG	DGPTKKVGNQ	APLQTQALQT	ASLRDGPAKR	AVWVRHTSSE	PQEPTESKAA
70	80	90	100	110	120
KERPKQEVTK	AVVVDLGTGY	CKCGFAGLPR	PTHKISTTVG	KPYMETAKTG	DNRKETFVGQ
130	140	150	160	170	180
ELNNTNVHLK	LVNPLRHGII	VDWDTVQDIW	EYLFRQEMKI	APEEHAVLVS	DPPLSPHTNR
190	200	210	220	230	240
EKYAEMLFEA	FNTPAMHIAY	QSRLSMYSYG	RTSGLVVEVG	HGVSYVVPIY	EGYPLPSITG
250	260	270	280	290	300
RLDYAGSDLT	AYLLGLLNSA	GNEFTQDQMG	IVEDIKKKCC	FVALDPIEEK	KVPLSEHTIR
310	320	330	340	350	360
YVLPDGKEIQ	LCQERFLCSE	MFFKPSLIKS	MQLGLHTQTV	SCLNKCDIAL	KRDLMGNILL
370	380	390	400	410	420
CGGSTMLSGF	PNRLQKELSS	MCPNDTPQVN	VLPERDSAVW	TGGSILASLQ	GFQPLWVHRF
430
EYEEHGPFFL	YRRCF