AiPD: Autoinhibited Protein Database

P42126

Gene name	ECI1 (DCI)
Protein name	Enoyl-CoA delta isomerase 1, mitochondrial
Names	3,2-trans-enoyl-CoA isomerase, Delta(3),Delta(2)-enoyl-CoA isomerase, D3,D2-enoyl-CoA isomerase, Dodecenoyl-CoA isomerase
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1632
EC number	5.3.3.8: Transposing C=C bonds
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-72 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-72 (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 P42126

Entry ID	Method	Resolution	Chain	Position	Source
1SG4	X-ray	130 A	A/B/C	43-302	PDB
AF-P42126-F1	Predicted				AlphaFoldDB

340 variants for P42126

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA7839392 rs112729404 RCV001258285	76	T>M	Complex I deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA394346710 rs1299518126	2	A>V		No	ClinGen TOPMed
CA276787518 rs900211278	3	L>M		No	ClinGen TOPMed gnomAD
rs1342101916 CA394346683	4	V>L		No	ClinGen TOPMed
rs959113454 CA276787515	5	A>P		No	ClinGen TOPMed
CA276787516 rs959113454	5	A>T		No	ClinGen TOPMed
CA394346614 rs749484668	8	R>*		No	ClinGen ExAC TOPMed gnomAD
CA7839451 rs749484668	8	R>G		No	ClinGen ExAC TOPMed gnomAD
CA394346612 rs1174577413	8	R>L		No	ClinGen gnomAD
rs778024807 CA7839450	10	P>L		No	ClinGen ExAC gnomAD
rs1288260579 CA394346577	11	A>T		No	ClinGen TOPMed
CA394346546 rs1200448071	12	R>C		No	ClinGen TOPMed
rs1189628478 CA394346520	13	V>A		No	ClinGen gnomAD
TCGA novel	13	V>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7839448 rs199944223	14	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7839447 rs199944223	14	L>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394346509 rs199944223	14	L>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7839449 rs756244379	14	L>V		No	ClinGen ExAC TOPMed gnomAD
CA7839446 rs754862311	15	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1160008718 CA394346482	16	R>C		No	ClinGen TOPMed
rs904419465 CA276787510	17	A>E		No	ClinGen TOPMed gnomAD
rs904419465 CA394346440	17	A>V		No	ClinGen TOPMed gnomAD
CA7839442 rs772827843	18	G>R		No	ClinGen ExAC gnomAD
CA7839443 rs772827843	18	G>W		No	ClinGen ExAC gnomAD
rs1416671286 CA394346362	19	A>T		No	ClinGen gnomAD
CA7839430 rs748164894	22	P>Q		No	ClinGen ExAC
CA394346303 rs748164894	22	P>R		No	ClinGen ExAC
CA276787491 rs464176	26	L>F		No	ClinGen Ensembl
rs1182222840 CA394346200	27	G>R		No	ClinGen gnomAD
CA394346186 rs1332842256	28	R>W		No	ClinGen TOPMed
rs938715003 CA276787489	30	E>K		No	ClinGen TOPMed
CA276787488 rs908632841	30	E>V		No	ClinGen TOPMed
CA394346118 rs1029513797	31	R>L		No	ClinGen gnomAD
CA276787486 rs1029513797	31	R>Q		No	ClinGen gnomAD
rs1271616186 CA394346111	32	A>G		No	ClinGen TOPMed
CA276787484 rs998066549	32	A>T		No	ClinGen TOPMed
rs1270610401 CA394346027	35	G>S		No	ClinGen TOPMed gnomAD
CA394346014 rs1567316260	35	G>V		No	ClinGen Ensembl
rs1596790970 CA394346010	36	G>R		No	ClinGen Ensembl
rs953020929 CA276787481	38	G>C		No	ClinGen TOPMed gnomAD
CA394345926 rs1451966373	39	A>S		No	ClinGen TOPMed gnomAD
rs1451966373 CA394345924	39	A>T		No	ClinGen TOPMed gnomAD
CA394345913 rs1478737496	39	A>V		No	ClinGen TOPMed
CA394345909 rs781278028	40	R>L		No	ClinGen ExAC TOPMed gnomAD
CA7839428 rs781278028	40	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA276787479 rs1027231090	40	R>W		No	ClinGen TOPMed gnomAD
CA394345892 rs1207951661	41	R>H		No	ClinGen gnomAD
rs1220495426 CA394345815	43	G>E		No	ClinGen gnomAD
rs1596790941 CA394345830	43	G>R		No	ClinGen Ensembl
rs1230236187 CA394345804	44	S>C		No	ClinGen TOPMed gnomAD
CA394345807 rs1230236187	44	S>G		No	ClinGen TOPMed gnomAD
rs751463939 CA7839426	45	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs964268127 CA276787475	45	Q>H		No	ClinGen TOPMed
CA394345765 rs1437714962	46	R>P		No	ClinGen gnomAD
rs1279176070 CA394345769	46	R>W		No	ClinGen gnomAD
CA276787471 rs1036989471	48	L>R		No	ClinGen TOPMed gnomAD
rs112148283 CA394345737	49	V>L		No	ClinGen TOPMed
rs112148283 CA276787470	49	V>M		No	ClinGen TOPMed
CA276787468 rs890177950	51	P>L		No	ClinGen TOPMed
CA394345621 rs1351952728	53	A>V		No	ClinGen gnomAD
rs1322199590 CA394345582	54	G>D		No	ClinGen TOPMed gnomAD
CA276787465 rs887811846	54	G>S		No	ClinGen TOPMed
rs1322199590 CA394345579	54	G>V		No	ClinGen TOPMed gnomAD
CA276787464 rs536340765	55	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1405312616 CA394345565	55	A>S		No	ClinGen TOPMed gnomAD
rs536340765 CA7839425	55	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1424165621 CA394345542	56	G>R		No	ClinGen TOPMed
rs1424165621 CA394345544	56	G>W		No	ClinGen TOPMed
CA394344117 rs781152332	57	V>F		No	ClinGen ExAC TOPMed gnomAD
CA7839409 rs781152332	57	V>L		No	ClinGen ExAC TOPMed gnomAD
rs72766670 CA276786825	58	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs72766670 COSM703010 CA7839406	58	A>T	lung Variant assessed as Somatic; 4.651e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs140154367 CA7839404	59	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs140154367 CA7839403	59	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA394344047 rs1483612333	63	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7839400 rs763564542 CA7839401	64	N>K		No	ClinGen ExAC TOPMed gnomAD
rs760206331 CA7839399	65	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1314053806 CA394344021	66	P>A		No	ClinGen gnomAD
CA276786819 rs750052090	67	V>G		No	ClinGen TOPMed
rs766980032 CA7839396	67	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA394343981 rs1230999362	69	S>C		No	ClinGen TOPMed
CA394343975 rs1596787464	69	S>T		No	ClinGen Ensembl
rs1310748411 CA394343889	71	S>R		No	ClinGen TOPMed gnomAD
rs773718798 CA394343844	73	E>A		No	ClinGen ExAC gnomAD
CA7839394 rs773718798	73	E>G		No	ClinGen ExAC gnomAD
rs1596787417 CA394343731	79	V>F		No	ClinGen Ensembl
rs768684246 CA7839390	81	S>R		No	ClinGen ExAC gnomAD
rs140831866 CA7839389	82	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7839388 rs780047225	86	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1187264913 CA394343045	86	E>K		No	ClinGen gnomAD
rs202006480 CA276786811	87	N>S		No	ClinGen Ensembl
CA276786809 rs577583578	89	K>E		No	ClinGen 1000Genomes gnomAD
CA394342966 rs1596787393	91	F>I		No	ClinGen Ensembl
rs745763135 CA7839384	92	R>C		No	ClinGen ExAC TOPMed
COSM325127 rs576184725 CA7839383	92	R>H	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA394342942 rs576184725	92	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201913960 CA7839380	93	G>D		No	ClinGen ExAC TOPMed
rs141206306 CA7839381	93	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201913960 CA276786803	93	G>V		No	ClinGen ExAC TOPMed
CA7839379 rs755637402	95	I>T		No	ClinGen ExAC gnomAD
CA7839377 rs1555482317	97	T>A		No	ClinGen Ensembl
CA7839376 rs148482178	98	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7839343 rs770918670	99	D>E		No	ClinGen ExAC gnomAD
rs774213990 CA7839344	99	D>N		No	ClinGen ExAC gnomAD
rs376899686 COSM968679 CA7839342	100	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs145543160 CA7839340 RCV000963796	100	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs145543160 CA7839341	100	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1016717088 CA276784868	101	P>L		No	ClinGen TOPMed gnomAD
CA394342397 rs1271357999	102	G>V		No	ClinGen TOPMed
CA7839336 rs544132422	105	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394342355 rs375300423	107	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7839332 rs375300423	107	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1344242684 CA394342346	107	G>V		No	ClinGen gnomAD
rs1226872495 CA394342339	108	L>P		No	ClinGen TOPMed gnomAD
CA394342340 rs1226872495	108	L>Q		No	ClinGen TOPMed gnomAD
rs145712373 CA276784867	111	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145712373 CA7839330	111	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1315161655 CA394342311	111	T>S		No	ClinGen gnomAD
CA7839327 rs199757340	112	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7839325 rs762972307 CA7839326	113	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1432006503 CA394342292	113	M>V		No	ClinGen TOPMed gnomAD
rs939079701 CA394342276	114	C>G		No	ClinGen TOPMed gnomAD
rs939079701 CA276784866	114	C>R		No	ClinGen TOPMed gnomAD
rs1474825185 CA394342259	115	G>E		No	ClinGen gnomAD
rs1401212592 CA394342253	116	R>G		No	ClinGen gnomAD
rs1474024035 CA394342222	118	P>L		No	ClinGen gnomAD
rs376657107 CA7839321	119	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs533971343 CA276784865	121	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1439337966 CA394342192	121	Y>C		No	ClinGen gnomAD
CA7839319 rs377274938	122	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7839318 rs377274938	122	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7839316 rs372341953	123	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771459648 CA7839317	123	G>R		No	ClinGen ExAC gnomAD
rs778249875 CA7839315	124	Y>*		No	ClinGen ExAC gnomAD
rs1596785673 CA394342165	124	Y>D		No	ClinGen Ensembl
CA394342151 rs753073208	125	W>*		No	ClinGen ExAC gnomAD
CA7839313 rs753073208	125	W>L		No	ClinGen ExAC gnomAD
rs756529820 CA7839314	125	W>R		No	ClinGen ExAC gnomAD
CA394342129 rs1334330654	126	K>N		No	ClinGen gnomAD
CA394342127 rs1328545348	127	A>S		No	ClinGen gnomAD
CA7839310 rs200130130	128	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7839311 rs200130130	128	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7839306 rs762935665	131	L>P		No	ClinGen ExAC TOPMed gnomAD
rs750430412 CA7839304	132	W>C		No	ClinGen ExAC gnomAD
CA7839303 rs765276090	133	L>R		No	ClinGen ExAC gnomAD
rs144791724 CA7839300	134	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201346166 CA7839301	134	R>W		No	ClinGen ExAC TOPMed gnomAD
CA394342044 rs1211977857	135	L>V		No	ClinGen gnomAD
rs140753801 CA7839296	136	Y>*		No	ClinGen ESP TOPMed gnomAD
rs1225709161 CA394342034	136	Y>C		No	ClinGen gnomAD
rs1269068103 CA394342036	136	Y>H		No	ClinGen TOPMed gnomAD
CA7839295 rs771681200	137	Q>*		No	ClinGen ExAC gnomAD
rs1333392490 CA394342020	138	S>C		No	ClinGen gnomAD
CA7839293 rs745357478	139	N>I		No	ClinGen ExAC TOPMed gnomAD
rs773793866 CA7839292 CA394342013	139	N>K		No	ClinGen ExAC gnomAD
CA7839291 rs770294190	141	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	144	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA276784863 rs994278121	144	S>P		No	ClinGen Ensembl
CA7839289 rs781561935	145	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	145	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778709886	147	N>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA7839286 rs529477231	147	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7839287 rs529477231	147	N>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394341933 rs1376826687	149	A>T		No	ClinGen gnomAD
CA7839265 rs757379799	149	A>V		No	ClinGen ExAC gnomAD
rs753892075 CA7839264	150	C>S		No	ClinGen ExAC TOPMed gnomAD
CA394341923 rs753892075	150	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA7839262 rs756023402	152	A>S		No	ClinGen ExAC gnomAD
CA276784691 rs756023402	152	A>T		No	ClinGen ExAC gnomAD
rs1182479362 CA394341898	153	G>R		No	ClinGen gnomAD
CA276784687 rs992111836	154	G>S		No	ClinGen TOPMed
rs940733516 CA276784684	155	C>F		No	ClinGen TOPMed
CA276784682 rs907873332	155	C>W		No	ClinGen TOPMed
rs767307483 CA7839258	157	V>M		No	ClinGen ExAC gnomAD
CA394341828 rs1460153936	160	T>I		No	ClinGen TOPMed
rs1460153936 CA394341829	160	T>S		No	ClinGen TOPMed
CA276784674 rs922071063	161	C>R		No	ClinGen TOPMed gnomAD
CA394341799 rs1425781485	163	Y>C		No	ClinGen gnomAD
rs773973843 CA7839255	164	R>C		No	ClinGen ExAC TOPMed gnomAD
rs773973843 CA394341791	164	R>G		No	ClinGen ExAC TOPMed gnomAD
rs202037059 CA7839254	164	R>H		No	ClinGen ExAC TOPMed gnomAD
rs202037059 CA276784670	164	R>L		No	ClinGen ExAC TOPMed gnomAD
CA7839251 rs553573557	167	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7839250 rs761201754	169	N>S		No	ClinGen ExAC gnomAD
rs1460432885 CA394341731	170	P>L		No	ClinGen gnomAD
CA7839249 rs775738635	170	P>S		No	ClinGen ExAC gnomAD
rs1165760035 CA394341725	171	R>W		No	ClinGen gnomAD
rs1007897728 CA276784654	173	C>F		No	ClinGen TOPMed gnomAD
CA7839247 rs746131110	173	C>G		No	ClinGen ExAC TOPMed gnomAD
CA276784657 rs746131110	173	C>R		No	ClinGen ExAC TOPMed gnomAD
CA394341689 rs1007897728	173	C>S		No	ClinGen TOPMed gnomAD
rs897673765 CA394341675	174	I>K		No	ClinGen TOPMed gnomAD
CA276784651 rs897673765	174	I>T		No	ClinGen TOPMed gnomAD
rs181584902 CA7839246	174	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA276784648 rs956537545	175	G>R		No	ClinGen TOPMed
rs1253148690 CA394341653	176	L>F		No	ClinGen gnomAD
rs570485748 CA7839245	176	L>P		No	ClinGen 1000Genomes ExAC gnomAD
CA7839244 rs749394778	177	N>S		No	ClinGen ExAC TOPMed gnomAD
CA276784640 rs1000997342	178	E>D		No	ClinGen TOPMed gnomAD
rs777843142 CA7839242	178	E>G		No	ClinGen ExAC
rs752635090 CA7839240	182	G>A		No	ClinGen ExAC gnomAD
CA7839239 rs375350226	183	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA394341548 rs1308885223	183	I>T		No	ClinGen gnomAD
rs375350226 CA394341553	183	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7839238 rs550641636	184	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs766030120 CA7839236	185	A>T	Variant assessed as Somatic; 9.247e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7839210 rs370584096	188	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA394341414 rs370584096	188	W>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA276784585 rs142166852 CA394341367	191	D>E		No	ClinGen 1000Genomes TOPMed gnomAD
TCGA novel	191	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1315495173 CA394341368	191	D>V		No	ClinGen TOPMed
rs1567312880 CA394341362 COSM1376732	192	T>A	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA7839207 rs368301422	192	T>I		No	ClinGen ESP ExAC TOPMed
CA276784578 rs910830437	194	E>G		No	ClinGen TOPMed
RCV000202721 CA248917 rs200076790	194	E>K		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA394341312 rs1376218883	195	N>K		No	ClinGen gnomAD
CA276784575 rs974902251	197	I>F		No	ClinGen TOPMed
CA7839203 CA394341281 rs773456374	198	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1168963944 CA394341271	199	H>Y		No	ClinGen gnomAD
rs371421985 CA394341258	200	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1374315610 CA394341254	200	R>L		No	ClinGen TOPMed gnomAD
rs1374315610 CA394341256	200	R>Q		No	ClinGen TOPMed gnomAD
CA7839202 rs371421985	200	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA7839201 rs748249520	201	A>V		No	ClinGen ExAC TOPMed gnomAD
CA7839198 rs537011234	202	A>V		No	ClinGen ExAC TOPMed gnomAD
CA7839196 rs376966589	204	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs376966589 CA394341193	204	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs745573709 CA7839195	204	R>H		No	ClinGen ExAC gnomAD
CA394341192 rs376966589	204	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs962146551 CA276784556	207	Q>E		No	ClinGen Ensembl
CA7839193 rs756800787	208	L>M		No	ClinGen ExAC TOPMed gnomAD
CA7839192 rs753395228	208	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1356403284 CA394341123	210	L>V		No	ClinGen TOPMed gnomAD
CA7839191 rs137903135	211	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1031063765 CA276784548	212	F>L		No	ClinGen TOPMed
rs1355196818 CA394341088	212	F>L		No	ClinGen gnomAD
CA394341093 rs1596784453	212	F>S		No	ClinGen Ensembl
CA7839188 rs747029298	213	P>A		No	ClinGen ExAC gnomAD
CA7839186 rs773367840	213	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA394341080 rs773367840	213	P>R		No	ClinGen ExAC TOPMed gnomAD
rs747029298 CA7839187	213	P>S		No	ClinGen ExAC gnomAD
CA7839183 rs138574813	214	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1376730 CA394341064 rs1464649491	215	A>T	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs768697158 CA7839181	215	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA394341050 rs1567312800	216	E>K		No	ClinGen Ensembl
rs775401987 CA7839179	218	L>M		No	ClinGen ExAC TOPMed gnomAD
CA276784535 rs1011953000	219	Q>H		No	ClinGen TOPMed
rs1236715129 CA394341012	219	Q>K		No	ClinGen gnomAD
CA394340989 rs1596784396	220	V>G		No	ClinGen Ensembl
rs1596784397 CA394340996	220	V>M		No	ClinGen Ensembl
CA276784529 rs1005184539	222	I>L		No	ClinGen TOPMed
rs886382074 CA276784527	222	I>M		No	ClinGen TOPMed gnomAD
CA394340970 rs1005184539	222	I>V		No	ClinGen TOPMed
rs1198163366 CA394340955	223	V>L		No	ClinGen gnomAD
rs1275332603 CA394340914	225	Q>H		No	ClinGen gnomAD
rs1335511326 CA394340923	225	Q>K		No	ClinGen gnomAD
CA276784525 rs906546155	226	V>M		No	ClinGen Ensembl
rs1231707120 CA394340893	227	V>L		No	ClinGen TOPMed gnomAD
rs756967360 CA7839175	228	P>A		No	ClinGen ExAC TOPMed gnomAD
rs752811837 CA7839174	228	P>L		No	ClinGen ExAC TOPMed gnomAD
rs752811837 CA394340877	228	P>R		No	ClinGen ExAC TOPMed gnomAD
rs756967360 CA394340881	228	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1328734523 CA394340870	229	E>K		No	ClinGen gnomAD
rs1445464933 CA394340839	230	E>D		No	ClinGen gnomAD
rs1220651247 CA394340846	230	E>G		No	ClinGen TOPMed
rs752182585 CA7839172	235	T>A		No	ClinGen ExAC gnomAD
rs752182585 CA7839171	235	T>P		No	ClinGen ExAC gnomAD
rs766982016 CA7839170	235	T>S		No	ClinGen ExAC gnomAD
rs758776830 CA7839169	236	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7839166 rs762139791	237	L>P		No	ClinGen ExAC TOPMed
CA7839165 rs552676077	239	A>V		No	ClinGen ExAC TOPMed gnomAD
CA7839163 rs760729560	240	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1211836367 CA394340694	242	Q>*		No	ClinGen gnomAD
rs986356429 CA276784507	242	Q>H		No	ClinGen gnomAD
rs775488278 CA7839162	243	W>C		No	ClinGen ExAC gnomAD
CA394340656 rs1225874221	244	M>K		No	ClinGen gnomAD
rs1348963072 CA394340599	248	D>N		No	ClinGen gnomAD
rs144710828 CA7839138	249	H>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA7839137 rs762830676	249	H>R		No	ClinGen ExAC gnomAD
rs773088663 CA7839136	251	R>*		No	ClinGen ExAC TOPMed gnomAD
rs200865626 CA7839135	251	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA276783815 rs972593718	252	Q>*		No	ClinGen TOPMed
rs201415022 CA7839133	254	T>I		No	ClinGen ExAC gnomAD
rs201415022 CA7839132	254	T>S		No	ClinGen ExAC gnomAD
CA394338605 rs1242066396	255	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1018390277 CA276783814	257	M>L		No	ClinGen TOPMed gnomAD
rs1018390277 CA394338575	257	M>V		No	ClinGen TOPMed gnomAD
CA7839131 COSM1376729 rs746451005	259	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs746451005 CA394338536	259	R>G		No	ClinGen ExAC TOPMed gnomAD
rs779273100 CA7839130	259	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7839129 rs757722700	261	A>D		No	ClinGen ExAC gnomAD
rs1335005955 CA394338504	261	A>P		No	ClinGen gnomAD
CA394338495 rs757722700	261	A>V		No	ClinGen ExAC gnomAD
CA7839127 rs144920416 RCV000658734	262	T>M		No	ClinGen ClinVar 1000Genomes ESP TOPMed dbSNP gnomAD
CA7839123 rs756352083	265	R>C		No	ClinGen ExAC TOPMed gnomAD
rs375896338 CA7839121	265	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs375896338 CA7839122	265	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs756352083 CA394338419	265	R>S		No	ClinGen ExAC TOPMed gnomAD
CA7839119 rs751574913	266	L>V		No	ClinGen ExAC TOPMed gnomAD
CA276783813 rs1028342676	267	V>A		No	ClinGen TOPMed
CA7839118 rs766243525	268	T>M		No	ClinGen ExAC TOPMed gnomAD
CA7839116 rs140363778	270	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199692587 CA7839115	270	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1315508621 CA394338318	271	D>A		No	ClinGen gnomAD
rs776594701 CA7839113	271	D>N		No	ClinGen ExAC TOPMed gnomAD
CA394338325 rs776594701	271	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA394338295 rs1233561818	272	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA7839109 rs200183052	273	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA7839110 rs774997670	273	D>N		No	ClinGen ExAC gnomAD
CA276783812 rs142153290 CA394338281	274	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142153290 CA7839107	274	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201289256 CA7839105	278	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7839104 rs781261200	279	S>I		No	ClinGen ExAC gnomAD
CA7839102 rs140542033	279	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA394338154 rs1164584438	281	I>V		No	ClinGen gnomAD
rs1596781983 CA394338116	283	K>R		No	ClinGen Ensembl
CA7839099 rs549052283	284	D>H		No	ClinGen 1000Genomes ExAC
rs750350533 CA7839097	284	D>V		No	ClinGen ExAC TOPMed gnomAD
CA276783811 rs895478439	285	S>C		No	ClinGen TOPMed gnomAD
rs895478439 CA394338076	285	S>Y		No	ClinGen TOPMed gnomAD
CA394338069 rs1237040172	286	I>V		No	ClinGen gnomAD
rs765188371 CA7839096	287	Q>E		No	ClinGen ExAC gnomAD
CA394338051 rs1469582586	287	Q>R		No	ClinGen gnomAD
rs761685164 CA7839095	288	K>M		No	ClinGen ExAC gnomAD
TCGA novel	291	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7839094 rs776427889	291	Q>H		No	ClinGen ExAC gnomAD
rs1308811664 CA394337973	292	M>R		No	ClinGen gnomAD
CA394337979 rs1317265386	292	M>V		No	ClinGen gnomAD
TCGA novel	293	Y>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1037219996 CA394337964	293	Y>H		No	ClinGen TOPMed gnomAD
CA276783810 rs1037219996	293	Y>N		No	ClinGen TOPMed gnomAD
rs763657190 CA7839093	294	L>S		No	ClinGen ExAC gnomAD
rs1353533575 CA394337949	294	L>V		No	ClinGen TOPMed
CA276783809 rs939735983	297	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1440375494 CA394337907	297	L>P		No	ClinGen TOPMed
CA7839088 rs147900765	300	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7839089 rs760335285	300	E>K		No	ClinGen ExAC TOPMed gnomAD
rs771549301 CA394337871	302	G>A		No	ClinGen ExAC gnomAD
CA7839087 rs771549301	302	G>V		No	ClinGen ExAC gnomAD
rs1396199185 CA394337866	303	G>L		No	ClinGen gnomAD

No associated diseases with P42126

No regional properties for P42126

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for P42126

Functions

		Description
EC Number	5.3.3.8	Transposing C=C bonds
Subcellular Localization	Mitochondrion matrix
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.

3 GO annotations of molecular function

Name	Definition
delta(3)-delta(2)-enoyl-CoA isomerase activity	Catalysis of the reactions: a (3Z)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoA or a (3E)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoA.
enoyl-CoA hydratase activity	Catalysis of the reaction: (3S)-3-hydroxyacyl-CoA = trans-2-enoyl-CoA + H2O.
intramolecular oxidoreductase activity, transposing C=C bonds	Catalysis of an oxidation-reduction (redox) reaction in which the hydrogen donor and acceptor are the same molecule, one or more carbon-carbon double bonds in the molecule are rearranged, and no oxidized product appears.

1 GO annotations of biological process

Name	Definition
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).

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q39659		Glyoxysomal fatty acid beta-oxidation multifunctional protein MFP-a	Cucumis sativus (Cucumber)	PR
Q08426	EHHADH	Peroxisomal bifunctional enzyme	Homo sapiens (Human)	PR
P23965	Eci1	Enoyl-CoA delta isomerase 1, mitochondrial	Rattus norvegicus (Rat)	PR
Q8W1L6	MFP	Peroxisomal fatty acid beta-oxidation multifunctional protein	Oryza sativa subsp japonica (Rice)	PR
Q9ZPI5	MFP2	Peroxisomal fatty acid beta-oxidation multifunctional protein MFP2	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MALVASVRVP	ARVLLRAGAR	LPGAALGRTE	RAAGGGDGAR	RFGSQRVLVE	PDAGAGVAVM
70	80	90	100	110	120
KFKNPPVNSL	SLEFLTELVI	SLEKLENDKS	FRGVILTSDR	PGVFSAGLDL	TEMCGRSPAH
130	140	150	160	170	180
YAGYWKAVQE	LWLRLYQSNL	VLVSAINGAC	PAGGCLVALT	CDYRILADNP	RYCIGLNETQ
190	200	210	220	230	240
LGIIAPFWLK	DTLENTIGHR	AAERALQLGL	LFPPAEALQV	GIVDQVVPEE	QVQSTALSAI
250	260	270	280	290	300
AQWMAIPDHA	RQLTKAMMRK	ATASRLVTQR	DADVQNFVSF	ISKDSIQKSL	QMYLERLKEE

KG