AiPD: Autoinhibited Protein Database

O60488

Gene name	ACSL4 (ACS4, FACL4, LACS4)
Protein name	Long-chain-fatty-acid--CoA ligase 4
Names	Arachidonate--CoA ligase, Long-chain acyl-CoA synthetase 4, LACS 4
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2182
EC number	6.2.1.3: Acid--thiol ligases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

16-87 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

16-87 (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 O60488

Entry ID	Method	Resolution	Chain	Position	Source
AF-O60488-F1	Predicted				AlphaFoldDB

284 variants for O60488

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001260887 rs1924349135	1	M>T	Intellectual disability [ClinVar]	Yes	ClinVar dbSNP
rs199837852 RCV002489495 RCV002550685 CA10491243 RCV000996002	64	H>R	Intellectual disability, X-linked 63 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000194684 CA209020 RCV002517039 rs372250472	123	Y>F	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs587780270 RCV000116218 CA230846 RCV001266141	136	N>S	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1660027301 RCV001265693	176	P>A	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV000895694 RCV002540140 CA10491177 rs138646432	194	N>S	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1924147806 RCV001251654	199	S>Y	Intellectual disability, X-linked 63 [ClinVar]	Yes	ClinVar dbSNP
rs1569427252 RCV002312348 CA414217576	296	I>L	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000012322 CA121576 rs122458139	375	P>L	Intellectual disability, X-linked 63 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA200941 RCV000174334 RCV002317002 rs200451158 RCV000419683	483	Y>C	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000622725 rs1556225792 CA414215086 RCV000764856	562	D>N	Intellectual disability, X-linked 63 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000012320 rs122458138 VAR_013180 CA121574	570	R>S	Intellectual disability, X-linked 63 XLID63 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000850208 rs1603401125 CA414214539	612	V>G	Intellectual disability [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs370335449 RCV002293508 RCV001198426 CA334284441	672	R>Q	Intellectual disability, X-linked 63 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ESP NCI-TCGA TOPMed dbSNP gnomAD
rs1234159713 CA414219619	3	L>F		No	ClinGen TOPMed
TCGA novel	11	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	13	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10491258 rs142407800	16	H>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA10491257 rs773389376	19	I>V		No	ClinGen ExAC
rs1206994473 CA414219485	23	S>N		No	ClinGen TOPMed
rs1472518837 CA414219479	24	A>D		No	ClinGen gnomAD
rs774930152 CA10491254	25	L>F		No	ClinGen ExAC TOPMed gnomAD
rs769113554 CA414219467	26	I>R		No	ClinGen ExAC gnomAD
rs769113554 CA10491253	26	I>T		No	ClinGen ExAC gnomAD
CA414219470 rs1188959012	26	I>V		No	ClinGen TOPMed
CA10491252 rs749789322	32	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1569429365 CA414219420	33	L>I		No	ClinGen Ensembl
rs770253074 CA10491250	37	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1187613100 CA414219391	37	K>R		No	ClinGen TOPMed
CA10491249 rs369073737	41	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs780941417 CA10491248	42	M>V		No	ClinGen ExAC gnomAD
rs1428279875 CA414219323	46	I>M		No	ClinGen TOPMed
CA10491247 rs756839240	48	A>G		No	ClinGen ExAC gnomAD
CA10491246 rs746437555	50	P>L		No	ClinGen ExAC gnomAD
CA414219299 rs1170822627	50	P>S		No	ClinGen TOPMed
rs1018050140 CA334287187	53	D>N		No	ClinGen Ensembl
COSM754641 CA414219261 rs1603405585	56	G>*	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs986713070 CA334287186	56	G>E		No	ClinGen TOPMed
rs774189485 CA10491245	58	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA414219214 rs1369886566	63	T>I		No	ClinGen TOPMed
CA414219207 rs1446566410	64	H>Q		No	ClinGen gnomAD
CA414219198 rs1363259105 COSM1113056	66	D>N	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1275001783 CA414219177	69	A>S		No	ClinGen TOPMed
rs764518737 CA10491241	70	V>A		No	ClinGen ExAC TOPMed gnomAD
rs750659716 CA10491240	71	I>M		No	ClinGen ExAC TOPMed gnomAD
CA414219151 rs1569429235	73	I>T		No	ClinGen Ensembl
rs767663900 CA209051 RCV000194699	73	I>V		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1479216378 CA414219096	81	K>N		No	ClinGen gnomAD
CA10491238 rs774352984	87	V>I		No	ClinGen ExAC gnomAD
rs1603405564 CA414219051	88	S>A		No	ClinGen Ensembl
CA10491237 rs764212023	89	K>R		No	ClinGen ExAC gnomAD
CA414219034 rs1207534609	90	F>L		No	ClinGen TOPMed
CA334287184 rs1001274260	90	F>L		No	ClinGen Ensembl
CA10491236 rs763411109	91	G>E		No	ClinGen ExAC
rs776028147 CA10491235	92	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1274574208 CA414219022	92	K>N		No	ClinGen TOPMed gnomAD
CA10491234 COSM1555765 rs770302078	94	D>G	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA414218997 rs1569429176	96	L>V		No	ClinGen Ensembl
CA414218969 rs1316849230	100	E>G		No	ClinGen gnomAD
CA334287183 rs905948010	102	L>V		No	ClinGen TOPMed
rs1423582671 CA414218950	103	S>T		No	ClinGen TOPMed
CA414218936 rs1255777764	105	E>*		No	ClinGen gnomAD
rs1043136257 CA334287182	106	N>S		No	ClinGen TOPMed
rs776423399 CA10491232	107	E>K		No	ClinGen ExAC gnomAD
rs1428030702 CA414218890	111	N>T		No	ClinGen gnomAD
TCGA novel	116	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1368073749 CA414218854	116	K>T		No	ClinGen gnomAD
rs1462077840 CA414218849	117	K>E		No	ClinGen TOPMed
CA334287171 RCV000521252 rs765735668	120	L>F		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA414218772 rs1217401904	126	M>V		No	ClinGen gnomAD
CA414218759 rs1238148493	127	N>S		No	ClinGen gnomAD
CA10491217 VAR_036376 COSM32374 rs753267653	133	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine a colorectal cancer sample; somatic mutation [NCI-TCGA, Cosmic, UniProt]	No	ClinGen cosmic curated UniProt ExAC NCI-TCGA dbSNP gnomAD
CA334287170 rs759239872 COSM1181675	133	R>H	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA10491215 rs150857957	137	N>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA414218637 rs1333849184	146	G>R		No	ClinGen gnomAD
TCGA novel	146	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414218600 rs1413138375	151	N>S		No	ClinGen gnomAD
CA414218593 rs1412919038	152	T>N		No	ClinGen TOPMed
rs1159821534 CA414218583	154	A>T		No	ClinGen gnomAD
CA10491212 rs759015846	155	I>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	156	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10491210 rs747630130	159	T>S		No	ClinGen ExAC gnomAD
CA10491209 rs778391227	160	R>G		No	ClinGen ExAC gnomAD
rs1207689055 CA414218529	162	E>K		No	ClinGen TOPMed gnomAD
CA414218530 rs1207689055	162	E>Q		No	ClinGen TOPMed gnomAD
CA10491206 rs753396090	173	Y>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs149336490 CA10491205	174	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs751755052 CA10491204	176	P>L		No	ClinGen ExAC gnomAD
COSM1244149 CA10491203 rs777991418	177	L>F	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA10491181 rs780841845	180	L>F		No	ClinGen ExAC TOPMed gnomAD
CA10491180 rs758700825	186	K>E		No	ClinGen ExAC gnomAD
rs367728271 CA10491179 COSM1113050	187	E>K	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
TCGA novel	188	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374685754 CA414218318	191	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs374685754 CA10491178	191	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA10491176 rs754418255	205	V>I		No	ClinGen ExAC gnomAD
TCGA novel	206	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766849625 CA10491175	210	S>T		No	ClinGen ExAC gnomAD
rs181062385 CA10491161	218	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776534893 CA10491160	218	D>V		No	ClinGen ExAC gnomAD
CA414218119 rs1314721535	219	I>T		No	ClinGen TOPMed
TCGA novel	221	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414218089 rs1366286914	223	K>R		No	ClinGen gnomAD
rs373868020 CA10491159	224	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs373868020 CA414218081	224	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1277191129 CA414218070	226	I>V		No	ClinGen TOPMed
rs748410870 CA10491158 RCV000429367	227	Y>H		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs755120558 CA10491156	232	A>S		No	ClinGen ExAC gnomAD
CA10491155 rs749447927	233	I>V		No	ClinGen ExAC gnomAD
CA414218012 rs1379206049	234	N>S		No	ClinGen gnomAD
rs1224048009 CA414218000	236	A>T		No	ClinGen TOPMed
CA10491153 rs756694815	238	Y>C		No	ClinGen ExAC gnomAD
rs142579865 CA334287072	246	S>N		No	ClinGen ESP TOPMed
CA16608672 RCV000429819 rs1057520891	247	M>V		No	ClinGen ClinVar Ensembl dbSNP
rs767960042 CA10491151	252	E>G		No	ClinGen ExAC gnomAD
rs1603405154 CA414217846	257	P>L		No	ClinGen Ensembl
TCGA novel	257	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	260	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10491141 rs770871971	262	I>V		No	ClinGen ExAC gnomAD
rs774718254 CA10491139	263	P>R		No	ClinGen ExAC gnomAD
CA10491137 rs192914034	268	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10491138 rs769060481	268	T>P		No	ClinGen ExAC gnomAD
rs1420901964 CA414217727	274	I>V		No	ClinGen TOPMed
CA414217709 rs1178253903 COSM1113046	276	M>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs769723219 CA10491135	276	M>L		No	ClinGen ExAC gnomAD
TCGA novel	277	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10491133 rs781496849	282	T>S		No	ClinGen ExAC gnomAD
CA334286919 rs1021408636	284	R>G		No	ClinGen Ensembl
CA10491132 rs757626878	284	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA414217651 rs1483148102	286	K>E		No	ClinGen gnomAD
rs1278779080 CA414217645	286	K>N		No	ClinGen gnomAD
rs1332086545 CA414217638	288	V>M		No	ClinGen gnomAD
CA10491131 rs375700800	289	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA414217632 rs375700800	289	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA414217610 rs1353786798	291	H>L		No	ClinGen TOPMed gnomAD
CA414217611 rs1353786798	291	H>R		No	ClinGen TOPMed gnomAD
CA414217615 rs1224018119	291	H>Y		No	ClinGen gnomAD
TCGA novel	293	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1335358211 CA414217547	300	T>A		No	ClinGen TOPMed
rs1311257164 CA414217525	303	C>Y		No	ClinGen TOPMed
TCGA novel	304	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778094841 CA10491130	305	R>K		No	ClinGen ExAC TOPMed gnomAD
rs1313013070 CA414217494	307	P>L		No	ClinGen gnomAD
TCGA novel	308	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753354212 CA10491109	311	P>L		No	ClinGen ExAC gnomAD
rs753354212 CA414217461	311	P>Q		No	ClinGen ExAC gnomAD
TCGA novel	312	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756162517 CA10491107	312	K>R		No	ClinGen ExAC gnomAD
CA10491106 rs750346280	318	Y>*		No	ClinGen ExAC gnomAD
CA10491105 rs767443802	319	L>F		No	ClinGen ExAC gnomAD
rs761460290 CA10491104	321	L>F		No	ClinGen ExAC
RCV000324631 rs886042180	323	H>missing		No	ClinVar dbSNP
RCV000996001 rs775789189 CA10491103	327	L>V		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA10491102 rs765447857	336	Y>C		No	ClinGen ExAC gnomAD
rs1200189941 CA414217235	345	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA414217212 rs1258280445	349	S>C		No	ClinGen TOPMed
CA414217198 rs1259618250	351	Q>R		No	ClinGen gnomAD
rs34221826 CA334286637	352	S>A		No	ClinGen Ensembl
TCGA novel	358	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	358	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	364	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1412192354 CA414217045	367	K>R		No	ClinGen TOPMed
CA414216999 rs1365047834	371	M>T		No	ClinGen TOPMed
rs1171714233 CA414217002	371	M>V		No	ClinGen TOPMed
CA414216990 rs1270709921	372	A>D		No	ClinGen gnomAD
rs751372322 CA10491085	373	A>G		No	ClinGen ExAC TOPMed gnomAD
rs751372322 CA414216981	373	A>V		No	ClinGen ExAC TOPMed gnomAD
rs763924578	375	P>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA10491069 rs757187251	377	I>V		No	ClinGen ExAC gnomAD
CA10491068 rs762932135	378	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA414216582 VAR_083476 rs1278034804	379	D>N		No	ClinGen gnomAD UniProt
rs1922940321 RCV001200545	382	Y>C		No	ClinVar dbSNP
TCGA novel	385	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA334286197 rs763146840	390	Q>R		No	ClinGen TOPMed gnomAD
rs777456352 CA10491067	391	E>K		No	ClinGen ExAC gnomAD
rs758159887 CA10491066	392	M>V		No	ClinGen ExAC gnomAD
rs754071672 CA10491065	398	T>I		No	ClinGen ExAC gnomAD
CA414216435 rs754071672	398	T>S		No	ClinGen ExAC gnomAD
rs989851854 CA334286195	402	I>M		No	ClinGen Ensembl
rs1158665590 CA414216404	403	G>A		No	ClinGen gnomAD
CA414216401 rs1028777465	404	Y>H		No	ClinGen TOPMed
rs1028777465 CA334286194	404	Y>N		No	ClinGen TOPMed
CA334286193 rs975823783	406	Y>N		No	ClinGen Ensembl
rs966241966 CA334286192	408	L>S		No	ClinGen Ensembl
TCGA novel	410	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10491062 rs750557962	414	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA414216300 rs1183275285	417	A>V		No	ClinGen gnomAD
CA10491045 rs750619821	425	F>V		No	ClinGen ExAC gnomAD
CA10491044 rs761895022	429	K>M		No	ClinGen ExAC TOPMed gnomAD
CA10491043 RCV000444447 rs761895022	429	K>R		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs764731978 CA10491041	430	A>S		No	ClinGen ExAC gnomAD
TCGA novel	430	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763542957 CA10491040	434	G>R		No	ClinGen ExAC gnomAD
rs780117289 RCV000915623 CA10491039	435	N>D		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1057518383 CA16043202 RCV000413318	437	R>H		No	ClinGen ClinVar dbSNP gnomAD
TCGA novel	438	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	442	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1306239030 CA414216110	445	P>L		No	ClinGen gnomAD
rs1296897947 CA414216095	448	P>R		No	ClinGen gnomAD
rs1382216869 CA414216088	449	Q>R		No	ClinGen gnomAD
rs944334736 CA334286134	451	H>Y		No	ClinGen Ensembl
rs776295981 CA10491036	452	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA10491035 rs770358246	456	V>I		No	ClinGen ExAC gnomAD
CA414216041 rs770358246	456	V>L		No	ClinGen ExAC gnomAD
CA414216024 rs1436590512	458	F>C		No	ClinGen gnomAD
CA414216000 rs1323528190	461	P>Q		No	ClinGen gnomAD
CA10491033 rs375864785	462	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
COSM610450 rs868773655 CA334286133	464	Q>H	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
TCGA novel	471	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10491031 rs372786751	474	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs865808317 CA334286130	476	T>I		No	ClinGen Ensembl
rs1387775796 CA414215898	478	T>A		No	ClinGen TOPMed
CA10491030 rs778712018	480	V>I		No	ClinGen ExAC gnomAD
rs1369672889 CA414215865	481	T>N		No	ClinGen gnomAD
CA10491024 rs200793312	484	T>A		No	ClinGen 1000Genomes ExAC
TCGA novel	485	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1448617838 CA414215821	488	V>I		No	ClinGen gnomAD
rs1297334592 CA414215798	492	L>V		No	ClinGen gnomAD
TCGA novel	494	C>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10491023 rs753212400	497	I>V		No	ClinGen ExAC gnomAD
CA10491022 rs765715088	501	D>E		No	ClinGen ExAC gnomAD
CA414215725 rs1454750207	502	W>G		No	ClinGen gnomAD
rs779703364	505	G>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA10491010 rs148205499	506	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs375616665 CA10491009	513	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA414215584 COSM252320 rs1373567543	520	V>I	ovary Variant assessed as Somatic; 0.000125 impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA10491008 rs778034718	522	G>C		No	ClinGen ExAC
rs1171781747 CA414215555	524	Q>L		No	ClinGen gnomAD
rs980318825 CA334285772	525	N>S		No	ClinGen Ensembl
CA10491007 rs143027788	526	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA205515 RCV000192597 rs797045215	528	M>V		No	ClinGen ClinVar TOPMed dbSNP gnomAD
TCGA novel rs1258779115 CA414215473	535	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
CA334285771 rs992814540	538	A>T		No	ClinGen Ensembl
CA334285770 rs956339615	538	A>V		No	ClinGen TOPMed gnomAD
CA414215446 rs1278836283	539	E>D		No	ClinGen gnomAD
CA414215436 rs1218111293	541	Y>N		No	ClinGen gnomAD
rs766630384 CA10491002	542	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs148996116 CA10491001	544	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs767028383 CA10490999	545	E>A		No	ClinGen ExAC gnomAD
TCGA novel	550	W>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761248525 CA10490998	552	C>Y		No	ClinGen ExAC gnomAD
CA414215172 rs1413956213	556	I>T		No	ClinGen gnomAD
CA10490997 rs773849002	558	E>Q		No	ClinGen ExAC TOPMed gnomAD
RCV002251753 rs1569420470 CA414214860 RCV000780813	570	R>H		No	ClinGen ClinVar Ensembl dbSNP
rs1375766402 CA414214796	577	L>V		No	ClinGen gnomAD
TCGA novel	584	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10490987 rs755555647	592	L>P		No	ClinGen ExAC
rs372046661 CA10490986	598	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1317656176 CA414214622	602	C>F		No	ClinGen gnomAD
TCGA novel	607	S>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10490972 rs776560114	609	Q>H		No	ClinGen ExAC gnomAD
TCGA novel	609	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10490971 rs772479211	612	V>M		No	ClinGen ExAC gnomAD
CA10490970 rs748357250	613	I>V		No	ClinGen ExAC gnomAD
CA414214419 rs1410904640	629	Q>H		No	ClinGen gnomAD
TCGA novel	631	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1396358298 CA414214402	632	V>I		No	ClinGen gnomAD
TCGA novel	633	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	633	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	634	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414214352 rs1395230892	639	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10490966 rs756641850	643	P>A		No	ClinGen ExAC gnomAD
TCGA novel	648	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA334285529 rs953387465	652	E>A		No	ClinGen TOPMed
TCGA novel	653	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA334285528 rs892888627	654	R>L		No	ClinGen gnomAD
CA414214226 rs1270765448	657	A>S		No	ClinGen gnomAD
CA10490963 rs145872865	659	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA414215367 rs1414669079	664	R>G		No	ClinGen TOPMed
rs187046661 CA10490940	664	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA414215341 rs1224600735	666	E>A		No	ClinGen gnomAD
TCGA novel	666	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1048838528 CA334284442	667	I>T		No	ClinGen TOPMed
CA414215313 rs756646168	669	I>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10490939 rs756646168	669	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs370335449 CA334284440	672	R>L		No	ClinGen ESP TOPMed gnomAD
rs1335182331 CA414215094	688	A>S		No	ClinGen TOPMed
TCGA novel	696	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1442156129 CA414214959	698	N>S		No	ClinGen gnomAD
CA414214955 rs898008437	699	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA334284438 rs987531901	699	H>R		No	ClinGen Ensembl
rs898008437 CA334284439	699	H>Y		No	ClinGen TOPMed gnomAD
TCGA novel	704	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10490934 rs766299247	710	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD

No associated diseases with O60488

2 regional properties for O60488

Type	Name	Position	InterPro Accession
domain	Geminivirus AL1 replication-associated protein, catalytic domain	7 - 119	IPR022690
domain	Geminivirus AL1 replication-associated protein, central domain	126 - 231	IPR022692

Functions

		Description
EC Number	6.2.1.3	Acid--thiol ligases
Subcellular Localization	Mitochondrion outer membrane ; Single-pass type III membrane protein Peroxisome membrane ; Single-pass type III membrane protein Microsome membrane ; Single-pass type III membrane protein Endoplasmic reticulum membrane ; Single-pass type III membrane protein Cell membrane
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

11 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
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.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
lipid droplet	An intracellular non-membrane-bounded organelle comprising a matrix of coalesced lipids surrounded by a phospholipid monolayer. May include associated proteins.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
mitochondria-associated endoplasmic reticulum membrane	A zone of apposition between endoplasmic-reticulum and mitochondrial membranes, structured by bridging complexes. These contact sites are thought to facilitate inter-organelle calcium and phospholipid exchange.
mitochondrial outer membrane	The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope.
peroxisomal membrane	The lipid bilayer surrounding a peroxisome.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

5 GO annotations of molecular function

Name	Definition
arachidonate-CoA ligase activity	Catalysis of the reaction: arachidonate + ATP + CoA = AMP + arachidonoyl-CoA + diphosphate + H(+).
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
long-chain fatty acid-CoA ligase activity	Catalysis of the reaction: ATP + a long-chain fatty acid + CoA = AMP + diphosphate + an acyl-CoA; a long-chain fatty acid is a fatty acid with a chain length between C13 and C22.
palmitoyl-CoA ligase activity	Catalysis of the reaction: ATP + palmitic acid + CoA = AMP + diphosphate + palmitoyl-CoA.
very long-chain fatty acid-CoA ligase activity	Catalysis of the reaction: ATP + a very-long-chain fatty acid + CoA = AMP + diphosphate + an acyl-CoA; a very long-chain fatty acid is a fatty acid which has a chain length greater than C22.

11 GO annotations of biological process

Name	Definition
embryonic process involved in female pregnancy	A reproductive process occurring in the embryo or fetus that allows the embryo or fetus to develop within the mother.
fatty acid metabolic process	The chemical reactions and pathways involving fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis.
lipid biosynthetic process	The chemical reactions and pathways resulting in the formation of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent.
lipid metabolic process	The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids.
long-chain fatty acid metabolic process	The chemical reactions and pathways involving long-chain fatty acids, A long-chain fatty acid is a fatty acid with a chain length between C13 and C22.
long-chain fatty-acyl-CoA biosynthetic process	The chemical reactions and pathways resulting in the formation of a long-chain fatty-acyl-CoA any derivative of coenzyme A in which the sulfhydryl group is in a thioester linkage with a long-chain fatty-acyl group. Long-chain fatty-acyl-CoAs have chain lengths of C13 or more.
long-chain fatty-acyl-CoA metabolic process	The chemical reactions and pathways involving long-chain fatty-acyl-CoAs, any derivative of coenzyme A in which the sulfhydryl group is in a thioester linkage with a long-chain fatty-acyl group. Long-chain fatty-acyl-CoAs have chain lengths of C13 or more.
negative regulation of prostaglandin secretion	Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a prostaglandin from a cell.
neuron differentiation	The process in which a relatively unspecialized cell acquires specialized features of a neuron.
positive regulation of cell growth	Any process that activates or increases the frequency, rate, extent or direction of cell growth.
positive regulation of insulin secretion	Any process that activates or increases the frequency, rate or extent of the regulated release of insulin.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P31119	aas	Bifunctional protein Aas	Escherichia coli (strain K12)	PR

10	20	30	40	50	60
MKLKLNVLTI	ILLPVHLLIT	IYSALIFIPW	YFLTNAKKKN	AMAKRIKAKP	TSDKPGSPYR
70	80	90	100	110	120
SVTHFDSLAV	IDIPGADTLD	KLFDHAVSKF	GKKDSLGTRE	ILSEENEMQP	NGKVFKKLIL
130	140	150	160	170	180
GNYKWMNYLE	VNRRVNNFGS	GLTALGLKPK	NTIAIFCETR	AEWMIAAQTC	FKYNFPLVTL
190	200	210	220	230	240
YATLGKEAVV	HGLNESEASY	LITSVELLES	KLKTALLDIS	CVKHIIYVDN	KAINKAEYPE
250	260	270	280	290	300
GFEIHSMQSV	EELGSNPENL	GIPPSRPTPS	DMAIVMYTSG	STGRPKGVMM	HHSNLIAGMT
310	320	330	340	350	360
GQCERIPGLG	PKDTYIGYLP	LAHVLELTAE	ISCFTYGCRI	GYSSPLTLSD	QSSKIKKGSK
370	380	390	400	410	420
GDCTVLKPTL	MAAVPEIMDR	IYKNVMSKVQ	EMNYIQKTLF	KIGYDYKLEQ	IKKGYDAPLC
430	440	450	460	470	480
NLLLFKKVKA	LLGGNVRMML	SGGAPLSPQT	HRFMNVCFCC	PIGQGYGLTE	SCGAGTVTEV
490	500	510	520	530	540
TDYTTGRVGA	PLICCEIKLK	DWQEGGYTIN	DKPNPRGEIV	IGGQNISMGY	FKNEEKTAED
550	560	570	580	590	600
YSVDENGQRW	FCTGDIGEFH	PDGCLQIIDR	KKDLVKLQAG	EYVSLGKVEA	ALKNCPLIDN
610	620	630	640	650	660
ICAFAKSDQS	YVISFVVPNQ	KRLTLLAQQK	GVEGTWVDIC	NNPAMEAEIL	KEIREAANAM
670	680	690	700	710
KLERFEIPIK	VRLSPEPWTP	ETGLVTDAFK	LKRKELRNHY	LKDIERMYGG	K