AiPD: Autoinhibited Protein Database

P42765

Gene name	ACAA2
Protein name	3-ketoacyl-CoA thiolase, mitochondrial
Names	Acetyl-CoA acetyltransferase, Acetyl-CoA acyltransferase, Acyl-CoA hydrolase, mitochondrial, Beta-ketothiolase, Mitochondrial 3-oxoacyl-CoA thiolase, T1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10449
EC number	2.3.1.9: Transferring groups other than amino-acyl groups
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

8-77 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

8-77 (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

3 structures for P42765

Entry ID	Method	Resolution	Chain	Position	Source
4C2J	X-ray	200 A	A/B/C/D	1-397	PDB
4C2K	X-ray	200 A	A/B/C/D	1-397	PDB
AF-P42765-F1	Predicted				AlphaFoldDB

346 variants for P42765

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA402426457 rs1334900695	4	L>R		No	ClinGen TOPMed
rs375092548 CA8959869	5	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs114961687 CA8959843	6	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs114961687 CA402425876	6	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402425874 rs1220818459	7	V>L		No	ClinGen gnomAD
rs777642958 CA299965044	9	V>I		No	ClinGen TOPMed gnomAD
CA299965043 rs777642958	9	V>L		No	ClinGen TOPMed gnomAD
CA402425853 rs1363232962	10	V>A		No	ClinGen TOPMed
CA8959842 rs775650862	12	A>V		No	ClinGen ExAC gnomAD
CA402425839 rs1438415142	13	K>E		No	ClinGen gnomAD
CA8959841 rs769900666	14	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8959840 rs746000048	14	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM988780 CA8959839 rs777732630	15	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8959836 rs778689314	19	A>D		No	ClinGen ExAC gnomAD
rs1299083177 CA402425804	19	A>T		No	ClinGen TOPMed
CA402425800 rs778689314	19	A>V		No	ClinGen ExAC gnomAD
rs151022375 CA8959833 CA402425794	20	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754570830 CA8959835	20	Y>D		No	ClinGen ExAC gnomAD
TCGA novel	20	Y>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs147007453 CA8959832	21	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1334606683 CA402425789	21	G>V		No	ClinGen TOPMed
CA402425784 rs1188088618	22	G>A		No	ClinGen TOPMed gnomAD
rs1463722806 CA402425770	25	K>E		No	ClinGen gnomAD
rs1463722806 CA402425769	25	K>Q		No	ClinGen gnomAD
rs374355283 CA8959831	28	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1210870825 CA402425737	29	A>V		No	ClinGen gnomAD
CA8959830 rs11549282	31	D>N		No	ClinGen ExAC gnomAD
rs11549282 CA299964925	31	D>Y		No	ClinGen ExAC gnomAD
CA402425699 rs757734216	35	F>C		No	ClinGen ExAC gnomAD
CA8959829 rs757734216	35	F>S		No	ClinGen ExAC gnomAD
CA8959827 rs764565126	39	A>P		No	ClinGen ExAC gnomAD
CA8959828 rs764565126	39	A>T		No	ClinGen ExAC gnomAD
rs763465209 CA8959826	39	A>V		No	ClinGen ExAC gnomAD
CA8959825 rs775847053	40	A>V		No	ClinGen ExAC gnomAD
CA299964893 rs958299016	41	L>S		No	ClinGen TOPMed gnomAD
CA402425652 rs1249942495	43	A>G		No	ClinGen TOPMed
TCGA novel	44	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1290478737 CA402425643	45	K>E		No	ClinGen TOPMed gnomAD
CA402425621 rs1255737445	48	P>R		No	ClinGen TOPMed
CA8959824 rs765415172	48	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1311586831 CA402425618	49	E>Q		No	ClinGen gnomAD
CA402425606 rs1432172976	50	T>I		No	ClinGen TOPMed gnomAD
CA8959822 rs776608192	51	V>F		No	ClinGen ExAC gnomAD
rs145040105 CA299964832	52	D>G		No	ClinGen ESP TOPMed gnomAD
rs771981452 CA8959821	52	D>N		No	ClinGen ExAC gnomAD
rs1000116033 CA299964817	54	V>M		No	ClinGen Ensembl
rs1182722586 CA402425576	55	I>M		No	ClinGen gnomAD
rs774333357 CA8959819	55	I>V		No	ClinGen ExAC gnomAD
rs370304825 CA8959818	56	M>R		No	ClinGen ESP ExAC gnomAD
rs370304825 CA8959817	56	M>T		No	ClinGen ESP ExAC gnomAD
CA8959816 rs141307346	57	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8959815 rs146535277	57	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA299964777 rs972206700	58	N>S		No	ClinGen TOPMed gnomAD
CA402425557 rs1275041074	59	V>I		No	ClinGen gnomAD
rs377336328 CA299964760	61	Q>E		No	ClinGen ESP TOPMed
rs1221770728 CA402425207	62	S>G		No	ClinGen gnomAD
CA402425184 rs1270686413	65	D>G		No	ClinGen gnomAD
CA402425187 rs1355898514	65	D>H		No	ClinGen TOPMed
rs1383707487 CA402425175	66	A>G		No	ClinGen gnomAD
rs143653600 CA8959800	67	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs951642271 CA299959998	67	I>V		No	ClinGen TOPMed
CA402425168 rs1375784281	68	Y>H		No	ClinGen TOPMed
CA8959799 rs774241177	69	L>F		No	ClinGen ExAC TOPMed gnomAD
rs768631803 CA8959798	70	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1390174167 CA402425149	71	R>G		No	ClinGen gnomAD
CA402425142 rs1215230400 COSM288181	72	H>D	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA299959970 rs976518434	72	H>P		No	ClinGen TOPMed
CA8959796 rs145076043	76	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs149964586 CA8959795	76	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA402425115 rs149964586	76	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA299959955 rs1015265774	77	V>E		No	ClinGen TOPMed gnomAD
rs1486818394 CA402425105	78	G>E		No	ClinGen TOPMed
CA299959947 rs1005506219	81	K>*		No	ClinGen TOPMed gnomAD
CA402425086 rs1457820111	81	K>R		No	ClinGen gnomAD
rs1180911686 CA402425060	85	A>P		No	ClinGen gnomAD
rs531271159 CA8959793	87	T>K		No	ClinGen ExAC TOPMed gnomAD
rs531271159 CA8959792	87	T>M		No	ClinGen ExAC TOPMed gnomAD
CA402425029 rs1250740574	90	R>K		No	ClinGen gnomAD
rs375639810 CA402425014	92	C>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs375639810 CA402425015	92	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs375639810 CA8959786	92	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1314501394 CA402425009	93	G>S		No	ClinGen gnomAD
CA299959909 rs759392652	95	G>A		No	ClinGen Ensembl
rs766665581 CA8959783	99	I>F		No	ClinGen ExAC gnomAD
CA8959781 rs199788778	100	V>M		No	ClinGen 1000Genomes ExAC TOPMed
rs144262881 CA299959873	103	C>W		No	ClinGen ESP
rs576008832 CA8959780	104	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA299958777 rs945560872	105	E>Q		No	ClinGen gnomAD
TCGA novel	106	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756362063 CA8959760	107	C>F		No	ClinGen ExAC TOPMed gnomAD
CA8959759 rs750433933	108	V>G		No	ClinGen ExAC gnomAD
rs199504474 CA8959758	109	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8959757 rs762009554	110	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs765255369 CA8959755	113	V>G		No	ClinGen ExAC gnomAD
CA402424650 rs1434043447	113	V>I		No	ClinGen gnomAD
rs770665537 CA8959752	116	C>R		No	ClinGen ExAC TOPMed gnomAD
rs770665537 CA8959753	116	C>S		No	ClinGen ExAC TOPMed gnomAD
rs1190646607 CA402424607	117	G>R		No	ClinGen gnomAD
rs760419662 CA8959751	118	G>R		No	ClinGen ExAC gnomAD
CA8959748 rs747738161	120	E>K		No	ClinGen ExAC TOPMed
rs747738161 CA402424578	120	E>Q		No	ClinGen ExAC TOPMed
rs1210719333 CA402424559	121	S>N		No	ClinGen gnomAD
CA8959745 rs769229222	122	M>L		No	ClinGen ExAC gnomAD
CA299958671 rs749576446	123	S>I		No	ClinGen ExAC gnomAD
rs749576446 CA8959744	123	S>N		No	ClinGen ExAC gnomAD
CA402424535 rs1339191610	123	S>R		No	ClinGen gnomAD
CA402424533 rs1568587308	124	Q>E		No	ClinGen Ensembl
CA8959742 rs756270268	125	A>V		No	ClinGen ExAC gnomAD
rs1190691830 CA402424517	126	P>L		No	ClinGen gnomAD
rs141625024 CA8959741	126	P>S		No	ClinGen ESP ExAC TOPMed
CA402424511 rs1373524227	127	Y>*		No	ClinGen gnomAD
CA402424513 rs757248601	127	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA402424516 rs1292773722	127	Y>N		No	ClinGen gnomAD
CA8959739 rs757248601	127	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs765033755 CA8959737	128	C>F		No	ClinGen ExAC gnomAD
CA8959738 rs751705759	128	C>R		No	ClinGen ExAC gnomAD
rs903517751 CA299958610	129	V>D		No	ClinGen TOPMed gnomAD
CA8959736 rs200859964	129	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1459130752 CA402424491	131	N>D		No	ClinGen gnomAD
rs1205828134 CA402424487	131	N>I		No	ClinGen gnomAD
rs753632815 CA8959735	132	V>L		No	ClinGen ExAC TOPMed gnomAD
rs753632815 CA299958608	132	V>M		No	ClinGen ExAC TOPMed gnomAD
CA8959733 rs760617913	133	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8959734 rs760617913	133	R>G		No	ClinGen ExAC TOPMed gnomAD
rs772972462 CA8959732	133	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs965850348 CA299958578	135	G>*		No	ClinGen Ensembl
rs557926783 CA8959731	135	G>E		No	ClinGen 1000Genomes ExAC gnomAD
rs761180171 CA8959730	136	T>N		No	ClinGen ExAC gnomAD
rs763658924 CA299958515	138	L>R		No	ClinGen Ensembl
rs1040574362 CA299958514	139	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1437542488 CA402424447	139	G>R		No	ClinGen gnomAD
CA8959729 rs773944804	142	I>T		No	ClinGen ExAC gnomAD
CA8959710 rs763645430	144	L>V		No	ClinGen ExAC gnomAD
CA402424377 rs1322908376	147	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs775944059 CA8959708	148	L>S		No	ClinGen ExAC gnomAD
CA8959706 rs371834662	149	W>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371834662 CA8959707	149	W>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	150	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8959704 rs376134556	150	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA8959705 rs376134556	150	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA402424355 rs1399658486	151	S>*		No	ClinGen gnomAD
rs201606320 CA299957375	156	H>D		No	ClinGen TOPMed gnomAD
rs201606320 CA299957379	156	H>Y		No	ClinGen TOPMed gnomAD
CA402424302 rs1296824835	159	L>F		No	ClinGen TOPMed gnomAD
rs979794620 CA299957374	160	P>L		No	ClinGen gnomAD
CA8959701 rs772163589	161	M>I		No	ClinGen ExAC gnomAD
CA299957366 rs1057076742	161	M>V		No	ClinGen TOPMed gnomAD
TCGA novel	162	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1466437055 CA402424281	162	A>V		No	ClinGen gnomAD
rs748291888 CA8959700	163	M>L		No	ClinGen ExAC gnomAD
rs780091058 CA8959699	165	A>T		No	ClinGen ExAC gnomAD
CA402424252 rs1185845132	167	N>D		No	ClinGen TOPMed
rs1445399624 CA402424237	169	A>S		No	ClinGen gnomAD
CA299957352 rs34783635	172	H>P		No	ClinGen Ensembl
rs148412743 CA8959698	172	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1359964129 CA402424201	174	I>T		No	ClinGen gnomAD
CA402424198 rs1197591659	175	S>R		No	ClinGen TOPMed
rs781056730 CA8959694	178	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA402424171 rs1161827523	178	E>V		No	ClinGen TOPMed
CA402424165 rs1289141634	179	C>Y		No	ClinGen gnomAD
rs144829415 CA8959693	181	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA299957319 rs763693994	183	A>S		No	ClinGen ExAC TOPMed gnomAD
CA8959691 rs763693994	183	A>T		No	ClinGen ExAC TOPMed gnomAD
rs762428287 CA8959690	186	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA402424057 rs1414317335	190	W>*		No	ClinGen TOPMed gnomAD
CA402424021 rs1172195216	192	A>V		No	ClinGen gnomAD
TCGA novel	194	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759116415 CA8959666	194	N>H		No	ClinGen ExAC gnomAD
rs889650590 CA299955246	196	A>T		No	ClinGen TOPMed
CA299955245 rs1050880347	197	G>D		No	ClinGen TOPMed gnomAD
CA402423491 rs1374585538	197	G>R		No	ClinGen TOPMed
CA402423474 rs761055038 CA8959663	198	Y>*		No	ClinGen ExAC gnomAD
CA8959664 rs149436920 RCV000901170	198	Y>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1291975695 CA402423478	198	Y>S		No	ClinGen gnomAD
CA8959662 rs375657323	199	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1297996044 CA402423455	200	N>S		No	ClinGen TOPMed gnomAD
CA402423438 rs748795760	201	D>E		No	ClinGen gnomAD
rs1308231160 CA402423414	203	M>T		No	ClinGen TOPMed
CA8959661 rs767782958	203	M>V		No	ClinGen ExAC TOPMed gnomAD
CA8959659 rs774775444	204	A>E		No	ClinGen ExAC TOPMed gnomAD
CA8959660 rs762141148	204	A>T		No	ClinGen ExAC TOPMed gnomAD
CA8959657 rs138932410	206	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8959656 rs780026982	206	I>T		No	ClinGen ExAC TOPMed gnomAD
rs138932410 CA8959658	206	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1303049047 CA402423376	207	E>*		No	ClinGen Ensembl
CA402423365 rs957587326	208	V>L		No	ClinGen gnomAD
rs957587326 CA299955213	208	V>M		No	ClinGen gnomAD
TCGA novel	210	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8959655 rs770791532	213	G>R		No	ClinGen ExAC gnomAD
CA402423287 rs1412623047	215	Q>*		No	ClinGen TOPMed
CA8959652 rs777434734	216	T>A		No	ClinGen ExAC gnomAD
CA8959650 rs747783652	217	M>T		No	ClinGen ExAC gnomAD
VAR_052577 CA8959651 rs11549285	217	M>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA402423233 rs1214008464	218	Q>H		No	ClinGen gnomAD
CA299955190 rs907358687	219	V>A		No	ClinGen TOPMed gnomAD
rs777908633 CA8959648	220	D>G		No	ClinGen ExAC gnomAD
rs778578981 CA8959649	220	D>H		No	ClinGen ExAC gnomAD
CA402423201 rs753311217	221	E>*		No	ClinGen ExAC gnomAD
CA8959645 rs753311217	221	E>K		No	ClinGen ExAC gnomAD
CA299955187 rs199574771	224	R>Q		No	ClinGen gnomAD
CA8959644 rs185485675	224	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765105322 CA299955177 COSM318463	225	P>L	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
CA402423097 rs1568586230	228	T>I		No	ClinGen Ensembl
CA402423094 rs1454412914	229	L>V		No	ClinGen gnomAD
CA8959635 rs775462658	233	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA402423033 rs1424144133	233	Q>R		No	ClinGen TOPMed gnomAD
rs867174773 CA299955116	236	P>S		No	ClinGen Ensembl
CA402422979 rs1317662377	237	P>R		No	ClinGen TOPMed
CA8959634 rs770834763	238	V>L		No	ClinGen ExAC TOPMed gnomAD
CA8959632 rs746932369	241	K>T		No	ClinGen ExAC gnomAD
CA299955078 rs368801454	242	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8959631 rs773190370	242	D>N		No	ClinGen ExAC gnomAD
CA8959629 rs747986743	243	G>A		No	ClinGen ExAC gnomAD
rs1314247322 CA402422875	245	V>I		No	ClinGen gnomAD
rs778489141 CA8959628	246	T>I		No	ClinGen ExAC gnomAD
rs1233796243 CA402422851	247	A>T		No	ClinGen gnomAD
rs1369013433 CA402422843	247	A>V		No	ClinGen gnomAD
CA402422813 rs1382837096	250	A>T		No	ClinGen gnomAD
rs748770671 CA8959625	251	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs748770671 CA402422791	251	S>W		No	ClinGen ExAC TOPMed gnomAD
CA8959604 rs140434637	252	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA8959606 rs748882477	252	G>R		No	ClinGen ExAC gnomAD
CA8959607 rs748882477	252	G>S		No	ClinGen ExAC gnomAD
rs140434637 CA8959605	252	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs377532103 CA8959603	253	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA402422500 rs1266455463	257	A>D		No	ClinGen TOPMed
CA402422497 rs1266455463	257	A>V		No	ClinGen TOPMed
rs781744623 CA8959601	259	A>D		No	ClinGen ExAC TOPMed gnomAD
rs972030627 CA299954488	261	I>T		No	ClinGen TOPMed gnomAD
TCGA novel	263	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1484858167 CA402422437	263	A>G		No	ClinGen gnomAD
rs1178776527 CA402422399	266	D>G		No	ClinGen TOPMed
TCGA novel	266	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8959598 rs751902237	267	A>T		No	ClinGen ExAC gnomAD
rs1249882184 CA402422343	271	H>R		No	ClinGen gnomAD
CA8959597 rs148304029	271	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA8959596 rs543656657	273	F>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs190780040 CA8959595	274	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1293758876 CA402422299	275	P>R		No	ClinGen gnomAD
rs1414104408 CA402422290	276	L>R		No	ClinGen gnomAD
CA8959594 rs765547364	277	A>P		No	ClinGen ExAC TOPMed gnomAD
rs1598793121 CA402422270	279	I>V		No	ClinGen Ensembl
rs1391793866 CA402422204	285	S>P		No	ClinGen TOPMed gnomAD
CA299954407 rs958860309	286	G>R		No	ClinGen TOPMed gnomAD
rs1417959982 CA402422184	287	C>S		No	ClinGen gnomAD
TCGA novel	289	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1164765892 CA402422151	289	P>R		No	ClinGen gnomAD
rs1017146727 CA299954391	289	P>S		No	ClinGen Ensembl
CA402422122 rs1374739310 COSM1611264	291	I>V	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
rs767375969 CA299954390	292	M>L		No	ClinGen ExAC TOPMed gnomAD
rs374903164 CA8959588	292	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8959589 rs767375969	292	M>V		No	ClinGen ExAC TOPMed gnomAD
rs774333318 CA402422078	293	G>A		No	ClinGen ExAC gnomAD
rs774333318 CA8959587	293	G>D		No	ClinGen ExAC gnomAD
rs1248681359 CA402422070	294	I>V		No	ClinGen gnomAD
TCGA novel	298	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs894367911 CA402420830	300	I>L		No	ClinGen TOPMed
CA299947802 rs894367911	300	I>V		No	ClinGen TOPMed
CA402420813 rs1256975692	301	S>N		No	ClinGen TOPMed gnomAD
CA8959570 rs756257897	304	L>V		No	ClinGen ExAC gnomAD
rs536329631 CA402420718	309	L>M		No	ClinGen gnomAD
CA299947749 rs539036880	312	K>N		No	ClinGen 1000Genomes TOPMed gnomAD
CA299947784 rs886571161	312	K>T		No	ClinGen TOPMed gnomAD
rs1371237533 CA402420650	314	M>L		No	ClinGen gnomAD
CA299947747 rs907027028	315	D>G		No	ClinGen TOPMed
CA402420631 rs1302300724	315	D>Y		No	ClinGen gnomAD
CA402420616 rs1433670046	316	L>F		No	ClinGen gnomAD
CA299947740 rs570405953	317	V>I		No	ClinGen 1000Genomes TOPMed gnomAD
rs570405953 CA402420614	317	V>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA402420610 rs1358976747	318	E>K		No	ClinGen TOPMed gnomAD
rs780297180 CA8959526	319	V>L		No	ClinGen ExAC TOPMed gnomAD
rs780297180 CA402420577	319	V>M		No	ClinGen ExAC TOPMed gnomAD
CA402420535 rs1426108332	322	A>G		No	ClinGen TOPMed
rs756168037 CA8959525	324	A>P		No	ClinGen ExAC gnomAD
CA402420515 rs756168037	324	A>S		No	ClinGen ExAC gnomAD
TCGA novel	324	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8959522 rs758356342	325	P>L		No	ClinGen ExAC gnomAD
CA8959523 rs763895191	325	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1568584013 CA402420501	326	Q>*		No	ClinGen Ensembl
TCGA novel	326	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8959521 rs752373088	328	L>F		No	ClinGen ExAC gnomAD
rs1366257666 CA402420455	330	V>I		No	ClinGen TOPMed
rs765110560 CA8959520	331	E>D		No	ClinGen ExAC gnomAD
CA299945875 rs377136498	332	R>K		No	ClinGen ESP TOPMed
rs200100202 CA8959519	333	S>G		No	ClinGen 1000Genomes ExAC
CA8959518 rs776390305	333	S>T		No	ClinGen ExAC gnomAD
CA8959517 rs766182618	335	D>G		No	ClinGen ExAC TOPMed gnomAD
CA402420388 rs1315604657	336	L>V		No	ClinGen gnomAD
CA402420379 rs1295583599	337	D>N		No	ClinGen TOPMed gnomAD
CA299945872 rs901054717	338	I>V		No	ClinGen Ensembl
CA8959516 rs780186145	339	S>*		No	ClinGen ExAC gnomAD
rs1033599622 CA299945865	339	S>N		No	ClinGen TOPMed
CA299945854 rs372446296	341	T>S		No	ClinGen ESP TOPMed
CA299945842 rs1039448895	342	N>D		No	ClinGen Ensembl
rs1355173936 CA402420310	342	N>S		No	ClinGen gnomAD
CA299945832 rs113517563	344	N>S		No	ClinGen Ensembl
CA402420288 rs1301492495	345	G>R		No	ClinGen gnomAD
CA299945827 rs971360087	346	G>R		No	ClinGen TOPMed gnomAD
CA8959515 rs760223620	349	A>S		No	ClinGen ExAC gnomAD
rs1025214807 CA299945809	350	L>W		No	ClinGen TOPMed
CA402420216 rs1170084015	352	H>P		No	ClinGen gnomAD
rs1464068590 CA402420201	353	P>S		No	ClinGen gnomAD
rs368291961 CA8959514	354	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA299945789 rs893433940	357	S>F		No	ClinGen gnomAD
CA299945780 rs78205143	359	S>*		No	ClinGen Ensembl
CA8959513 rs772401577	359	S>T		No	ClinGen ExAC gnomAD
rs1179874932 CA402420124	363	A>S		No	ClinGen gnomAD
rs1195376199 CA402420119	363	A>V		No	ClinGen gnomAD
rs141446101 CA8959511	364	H>P		No	ClinGen ESP ExAC gnomAD
rs1481525310 CA402420116	364	H>Y		No	ClinGen gnomAD
rs749704067 CA8959509	365	L>P		No	ClinGen ExAC gnomAD
rs1456030709 CA402420106	365	L>V		No	ClinGen gnomAD
CA8959507 rs756356351	367	H>Q		No	ClinGen ExAC gnomAD
rs745865904 CA8959505 COSM1564049	368	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs569859118 CA299944260 CA8959478	370	R>S		No	ClinGen 1000Genomes ExAC gnomAD
CA8959477 rs771012528 COSM1388939	371	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA402419942 rs371793129	372	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8959474 rs371793129	372	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8959473 rs754971457	373	G>S		No	ClinGen ExAC gnomAD
rs753631016 CA8959472	374	G>A		No	ClinGen ExAC TOPMed gnomAD
rs373663332 CA8959469	376	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1486461784 CA402419908	376	Y>H		No	ClinGen gnomAD
CA402419896 rs1393819450	377	A>S		No	ClinGen TOPMed
rs1233859886 CA402419884	378	V>A		No	ClinGen gnomAD
CA402419888 rs142211915	378	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142211915 CA8959466	378	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8959465 rs142211915	378	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1315756153 CA402419872	379	G>A		No	ClinGen TOPMed
TCGA novel	380	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402419831 rs1297861948	383	I>T		No	ClinGen TOPMed gnomAD
CA8959464 rs763462443	383	I>V		No	ClinGen ExAC gnomAD
CA402419825 rs1382891538	384	G>R		No	ClinGen gnomAD
CA299944124 rs1008697681	385	G>D		No	ClinGen Ensembl
rs930801702 CA299944133	385	G>S		No	ClinGen TOPMed
CA402419805 rs1436497634	386	G>D		No	ClinGen gnomAD
CA402419797 rs1568583409	387	Q>K		No	ClinGen Ensembl
rs1297566965 CA402419793	387	Q>R		No	ClinGen gnomAD
rs759857975 CA8959460	388	G>D		No	ClinGen ExAC gnomAD
CA8959461 rs770186903	388	G>S		No	ClinGen ExAC TOPMed gnomAD
rs199695749 CA8959458	390	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8959457 rs747046027	392	I>F		No	ClinGen ExAC gnomAD
CA402419738 rs1280261647	392	I>M		No	ClinGen TOPMed
rs778014494 CA8959456	394	Q>E		No	ClinGen ExAC gnomAD
rs147585440 CA8959455	396	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1192129639 CA402419707	397	A>T		No	ClinGen gnomAD
rs749234729 CA402419698	398	A>S		No	ClinGen ExAC gnomAD

No associated diseases with P42765

5 regional properties for P42765

Type	Name	Position	InterPro Accession
active_site	Thiolase, active site	377 - 390	IPR020610
conserved_site	Thiolase, conserved site	342 - 358	IPR020613
active_site	Thiolase, acyl-enzyme intermediate active site	88 - 106	IPR020615
domain	Thiolase, N-terminal	7 - 266	IPR020616
domain	Thiolase, C-terminal	274 - 394	IPR020617

Functions

		Description
EC Number	2.3.1.9	Transferring groups other than amino-acyl groups
Subcellular Localization	Mitochondrion
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
mitochondrial matrix	The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.

7 GO annotations of molecular function

Name	Definition
acetyl-CoA C-acetyltransferase activity	Catalysis of the reaction: 2 acetyl-CoA = CoA + acetoacetyl-CoA.
acetyl-CoA C-acyltransferase activity	Catalysis of the reaction: acyl-CoA + acetyl-CoA = CoA + 3-oxoacyl-CoA.
acetyl-CoA hydrolase activity	Catalysis of the reaction: acetyl-CoA + H(2)O = acetate + CoA + H(+).
acyl-CoA hydrolase activity	Catalysis of the reaction: acyl-CoA + H2O = CoA + a carboxylate.
myristoyl-CoA hydrolase activity	Catalysis of the reaction: myristoyl-CoA + H2O <=> H+ + tetradecanoate + coenzyme A.
palmitoyl-CoA hydrolase activity	Catalysis of the reaction: palmitoyl-CoA + H2O = CoA + palmitate.
RNA binding	Binding to an RNA molecule or a portion thereof.

5 GO annotations of biological process

Name	Definition
cellular response to hypoxia	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level.
cholesterol biosynthetic process	The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones.
fatty acid beta-oxidation	A fatty acid oxidation process that results in the complete oxidation of a long-chain fatty acid. Fatty acid beta-oxidation begins with the addition of coenzyme A to a fatty acid, and occurs by successive cycles of reactions during each of which the fatty acid is shortened by a two-carbon fragment removed as acetyl coenzyme A; the cycle continues until only two or three carbons remain (as acetyl-CoA or propionyl-CoA respectively).
negative regulation of mitochondrial membrane permeability involved in apoptotic process	Any negative regulation of mitochondrial membrane permeability that is involved in apoptotic process.
negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	Any process that stops, prevents or reduces the frequency, rate or extent of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3T0R7	ACAA2	3-ketoacyl-CoA thiolase, mitochondrial	Bos taurus (Bovine)	PR
P55084	HADHB	Trifunctional enzyme subunit beta, mitochondrial	Homo sapiens (Human)	PR
Q8BWT1	Acaa2	3-ketoacyl-CoA thiolase, mitochondrial	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MALLRGVFVV	AAKRTPFGAY	GGLLKDFTAT	DLSEFAAKAA	LSAGKVSPET	VDSVIMGNVL
70	80	90	100	110	120
QSSSDAIYLA	RHVGLRVGIP	KETPALTINR	LCGSGFQSIV	NGCQEICVKE	AEVVLCGGTE
130	140	150	160	170	180
SMSQAPYCVR	NVRFGTKLGS	DIKLEDSLWV	SLTDQHVQLP	MAMTAENLAV	KHKISREECD
190	200	210	220	230	240
KYALQSQQRW	KAANDAGYFN	DEMAPIEVKT	KKGKQTMQVD	EHARPQTTLE	QLQKLPPVFK
250	260	270	280	290	300
KDGTVTAGNA	SGVADGAGAV	IIASEDAVKK	HNFTPLARIV	GYFVSGCDPS	IMGIGPVPAI
310	320	330	340	350	360
SGALKKAGLS	LKDMDLVEVN	EAFAPQYLAV	ERSLDLDISK	TNVNGGAIAL	GHPLGGSGSR
370	380	390
ITAHLVHELR	RRGGKYAVGS	ACIGGGQGIA	VIIQSTA