AiPD: Autoinhibited Protein Database

Q9BV79

Gene name	MECR (NBRF1, CGI-63)
Protein name	Enoyl-[acyl-carrier-protein] reductase, mitochondrial
Names	2-enoyl thioester reductase, Nuclear receptor-binding factor 1, HsNrbf-1, NRBF-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:51102
EC number	1.3.1.104: With NAD(+) or NADP(+) as acceptor
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-70 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-70 (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

5 structures for Q9BV79

Entry ID	Method	Resolution	Chain	Position	Source
1ZSY	X-ray	175 A	A	40-373	PDB
2VCY	X-ray	241 A	A/B	31-373	PDB
7AYB	X-ray	185 A	A	31-373	PDB
7AYC	X-ray	202 A	A	31-373	PDB
AF-Q9BV79-F1	Predicted				AlphaFoldDB

324 variants for Q9BV79

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1683215661 RCV001330697	54	P>L	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities [ClinVar]	Yes	ClinVar dbSNP
RCV000415548 RCV000755161 rs1057519287	83	N>missing	Optic atrophy Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities [ClinVar]	Yes	ClinVar dbSNP
RCV002548262 rs11544658 RCV000955238 VAR_055486 CA725729	227	R>K	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000415570 CA725727 RCV000519749 rs762913101 VAR_077997 RCV000755156	232	G>E	Optic atrophy Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities DYTOABG; probably decreased protein abundance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000755160 RCV001865308 RCV000415607 rs145192716 VAR_077998 CA725666	258	R>W	Optic atrophy Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities DYTOABG [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
rs1057519286 RCV002266962 CA16043954 RCV000415602 RCV000755157	285	Y>*	Optic atrophy Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000755159 VAR_078000 CA725617 RCV000415576 rs759218713	285	Y>C	Optic atrophy Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities DYTOABG [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
VAR_077999	285	Y>del	DYTOABG; probably decreased protein abundance [UniProt]	Yes	UniProt
rs760609986 CA725939	2	W>*		No	ClinGen ExAC TOPMed gnomAD
CA20035337 CA725938 rs760609986	2	W>C		No	ClinGen ExAC TOPMed gnomAD
CA725940 rs776354855	2	W>R		No	ClinGen ExAC gnomAD
rs775552846 CA725937	3	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1452220339 CA339533670	3	V>I		No	ClinGen gnomAD
CA339533669 rs1452220339	3	V>L		No	ClinGen gnomAD
rs1005176880 CA20035323	5	S>C		No	ClinGen TOPMed gnomAD
CA339533656 rs1005176880	5	S>G		No	ClinGen TOPMed gnomAD
CA339533650 rs1574565248	6	T>P		No	ClinGen Ensembl
rs1421315001 CA339533647	6	T>S		No	ClinGen TOPMed
rs749351701 CA725935	7	L>P		No	ClinGen ExAC TOPMed gnomAD
CA339533642 rs749351701	7	L>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA725936 rs749351701	7	L>R		No	ClinGen ExAC TOPMed gnomAD
CA339533630 rs1558526132	9	R>Q		No	ClinGen Ensembl
rs1212323597 CA339533631	9	R>W		No	ClinGen gnomAD
rs200637441 CA725933	10	V>A		No	ClinGen ExAC TOPMed gnomAD
CA725932 rs200637441	10	V>G		No	ClinGen ExAC TOPMed gnomAD
CA20035294 CA339533626 rs1049500482	10	V>L		No	ClinGen TOPMed gnomAD
rs1198478744 CA339533614	12	T>I		No	ClinGen TOPMed
rs1239166497 CA339533619	12	T>P		No	ClinGen TOPMed
rs1239166497 CA339533617	12	T>S		No	ClinGen TOPMed
CA725929 rs747434061	13	P>L		No	ClinGen ExAC TOPMed gnomAD
CA339533611 rs1356382797	13	P>S		No	ClinGen TOPMed
CA339533613 rs1356382797	13	P>T		No	ClinGen TOPMed
CA20035253 rs750949885	14	A>P		No	ClinGen ExAC gnomAD
CA725926 rs750949885	14	A>S		No	ClinGen ExAC gnomAD
CA725925 rs764594390	14	A>V		No	ClinGen ExAC TOPMed gnomAD
rs949451177 CA339533602	15	R>L		No	ClinGen Ensembl
rs949451177 CA20035243	15	R>P		No	ClinGen Ensembl
rs368541093 CA725924	16	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1397883323 CA339533591	17	W>*		No	ClinGen TOPMed
rs200671357 CA20035240	18	R>G		No	ClinGen ExAC TOPMed gnomAD
rs200671357 CA725923	18	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1380049815 CA339533580	19	G>W		No	ClinGen gnomAD
CA339533576 rs763863390	20	L>V		No	ClinGen ExAC gnomAD
CA339533554 rs1161603443	23	A>V		No	ClinGen TOPMed
CA339533539 rs1417962670	26	C>G		No	ClinGen gnomAD
rs1042853691 CA20035187	27	H>L		No	ClinGen Ensembl
CA339533528 rs1190745314	27	H>Q		No	ClinGen TOPMed gnomAD
CA725915 rs774364128	28	G>E		No	ClinGen ExAC TOPMed gnomAD
rs759499131 CA725916	28	G>R		No	ClinGen ExAC gnomAD
rs769700301 CA725914	29	P>S		No	ClinGen ExAC gnomAD
CA20035165 rs1053071448	30	A>V		No	ClinGen TOPMed
rs1204938584 CA339533511	31	A>P		No	ClinGen gnomAD
CA725910 rs747260338	32	S>A		No	ClinGen ExAC gnomAD
CA339533503 rs1235010326	32	S>C		No	ClinGen TOPMed gnomAD
CA339533502 rs1235010326	32	S>F		No	ClinGen TOPMed gnomAD
rs758771305 CA725908	33	S>C		No	ClinGen ExAC TOPMed gnomAD
rs758771305 CA725909	33	S>F		No	ClinGen ExAC TOPMed gnomAD
rs756706914 CA725905	34	Y>*		No	ClinGen ExAC gnomAD
rs779540597 CA725906	34	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA725903 rs763624739	37	S>F		No	ClinGen ExAC gnomAD
rs975002708 CA20035100	39	E>*		No	ClinGen gnomAD
CA725901 rs752421465	39	E>D		No	ClinGen ExAC TOPMed gnomAD
CA20035090 rs11544659	39	E>G		No	ClinGen Ensembl
CA339533468 rs975002708	39	E>K		No	ClinGen gnomAD
CA725898 rs374505770	40	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA725899 rs374505770	40	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA725900 rs374505770	40	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1176794445 CA339533454	42	R>G		No	ClinGen TOPMed gnomAD
rs766400050 CA725896	42	R>P		No	ClinGen ExAC gnomAD
rs1176794445 CA339533453	42	R>W		No	ClinGen TOPMed gnomAD
CA339533449 rs761778962	43	V>F		No	ClinGen ExAC gnomAD
rs761778962 CA725895	43	V>I		No	ClinGen ExAC gnomAD
rs531057788 CA725894	45	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1558524761 CA339533426	47	V>A		No	ClinGen Ensembl
CA20035002 rs983535949	47	V>F		No	ClinGen Ensembl
CA725892 rs768742328	48	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs775690264 CA725890	49	G>A		No	ClinGen ExAC gnomAD
rs747172535 CA725891	49	G>R		No	ClinGen ExAC gnomAD
rs571641901 CA725888	50	H>P		No	ClinGen 1000Genomes ExAC gnomAD
CA339533377 rs866785367	55	A>P		No	ClinGen gnomAD
rs866785367 CA20034948	55	A>S		No	ClinGen gnomAD
CA339533367 rs1163462795	56	K>N		No	ClinGen gnomAD
CA725867 rs762081463	61	K>Q		No	ClinGen ExAC gnomAD
rs1204021660 CA339549150	62	N>S		No	ClinGen gnomAD
TCGA novel	67	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA339549088 rs1455847589	68	V>M		No	ClinGen gnomAD
rs747721529 CA725865	69	R>K		No	ClinGen ExAC TOPMed gnomAD
CA725864 rs780973892	71	S>P		No	ClinGen ExAC gnomAD
CA725863 rs3000853	72	D>H		No	ClinGen ExAC gnomAD
rs779837718 CA725861	74	R>C		No	ClinGen ExAC gnomAD
rs149818631 CA725860	74	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1398196735 CA339549004	75	V>M		No	ClinGen gnomAD
rs750365471 COSM1341654 CA725859	79	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1373869193 CA339548904	81	P>L		No	ClinGen TOPMed gnomAD
CA725856 COSM1317545 rs201700021	82	I>V	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs767613144 CA725855	83	N>D		No	ClinGen ExAC TOPMed
CA725853 rs754149483	87	I>L		No	ClinGen ExAC gnomAD
rs145593823 CA725852	87	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA725854 rs754149483	87	I>V		No	ClinGen ExAC gnomAD
rs1258936550 CA339548791	89	M>V		No	ClinGen gnomAD
rs763295340 CA725851	91	Q>E		No	ClinGen ExAC gnomAD
rs1272253261 CA339548761	91	Q>P		No	ClinGen TOPMed
CA339548743 rs773845755	92	G>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA725850 rs773845755	92	G>R		No	ClinGen ExAC gnomAD
rs755018004 CA725837	95	G>R		No	ClinGen ExAC TOPMed gnomAD
CA339548568 rs1128400	96	F>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA725835 rs1128400 VAR_027935	96	F>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA20051163 rs965120333	96	F>L		No	ClinGen Ensembl
rs144371520 CA725834	96	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA339548534 rs1335403665	98	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1413226593 CA339548501	100	L>R		No	ClinGen gnomAD
CA339548477 rs1558480226	103	V>L		No	ClinGen Ensembl
rs1444378382 CA339548427	105	G>E		No	ClinGen gnomAD
CA20051157 rs374316462	106	N>Y		No	ClinGen Ensembl
CA339548366 rs765731318	107	E>*		No	ClinGen ExAC TOPMed gnomAD
CA725832 rs765731318	107	E>K		No	ClinGen ExAC TOPMed gnomAD
CA339548320 rs1404730152	108	G>D		No	ClinGen gnomAD
CA339548252 rs1558480060	110	A>V		No	ClinGen Ensembl
CA339548185 rs1410932577	112	V>L		No	ClinGen gnomAD
CA725831 rs138259600	114	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs868467929 CA20051077	116	G>S		No	ClinGen Ensembl
CA725829 rs199787758	117	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA20051044 rs1023543022	117	S>R		No	ClinGen TOPMed gnomAD
rs1398328807 CA339548026	118	N>D		No	ClinGen TOPMed
CA725828 rs746554300 COSM908052	118	N>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs775185425 CA725827	119	V>E		No	ClinGen ExAC gnomAD
CA339547977 rs1213570020	119	V>M		No	ClinGen gnomAD
CA725826 rs143521506	120	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA20050993 rs745548640 COSM1214806 CA725825	121	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA339547886 rs1251624742	123	K>Q		No	ClinGen TOPMed
CA725823 rs757058811	124	P>S		No	ClinGen ExAC TOPMed gnomAD
rs749158767 CA725822	128	V>L		No	ClinGen ExAC gnomAD
rs1456777183 CA339547703	130	P>A		No	ClinGen TOPMed
rs1400839168 CA339547663	132	N>D		No	ClinGen TOPMed gnomAD
CA339547599 rs1156499822	133	A>D		No	ClinGen gnomAD
rs1359472628 CA339547605	133	A>T		No	ClinGen gnomAD
CA725819 rs751642810	134	G>C		No	ClinGen ExAC TOPMed gnomAD
rs1190994639 CA339547575	134	G>D		No	ClinGen gnomAD
CA725820 rs751642810	134	G>R		No	ClinGen ExAC TOPMed gnomAD
CA339547584 rs751642810	134	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs773294539 CA725801	136	G>E		No	ClinGen ExAC gnomAD
rs773294539 CA725802	136	G>V		No	ClinGen ExAC gnomAD
rs758553855 CA725800	139	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA725797 rs757670457	141	E>A		No	ClinGen ExAC TOPMed gnomAD
CA725798 rs373901680	141	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA339544436 rs199747286	142	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA725796 rs199747286	142	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764550864 CA725795	143	V>A		No	ClinGen ExAC gnomAD
rs1465594954 CA339544383	144	F>S		No	ClinGen TOPMed gnomAD
rs1355672978 CA339544333	146	E>K		No	ClinGen TOPMed gnomAD
CA725792 rs766872561	150	I>V		No	ClinGen ExAC gnomAD
rs1212233211 CA339544219	152	V>I		No	ClinGen TOPMed
rs759114736 CA725791	153	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs770619410 CA725789	157	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA20043543 rs914104967	157	P>S		No	ClinGen TOPMed gnomAD
CA20043531 rs989733697	158	L>H		No	ClinGen TOPMed
rs367673100 CA339544130	161	A>S		No	ClinGen ESP TOPMed gnomAD
rs367673100 CA20043518	161	A>T		No	ClinGen ESP TOPMed gnomAD
CA339544120 rs772846752	162	A>G		No	ClinGen ExAC gnomAD
rs1574349837 CA339544123	162	A>T		No	ClinGen Ensembl
rs772846752 CA725787	162	A>V		No	ClinGen ExAC gnomAD
rs747966453 CA725785	165	G>A		No	ClinGen ExAC TOPMed gnomAD
rs747966453 CA20043509	165	G>D		No	ClinGen ExAC TOPMed gnomAD
rs781255539 CA725784	167	N>S		No	ClinGen ExAC TOPMed gnomAD
CA725783 rs772261961	168	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1255052026 CA339544021	172	Y>C		No	ClinGen gnomAD
CA339544027 rs1334879714	172	Y>H		No	ClinGen gnomAD
rs1311423031 CA339544009	173	R>W		No	ClinGen gnomAD
CA339543978 rs1375085132	174	M>I		No	ClinGen gnomAD
rs745989775 CA725782	174	M>L		No	ClinGen ExAC gnomAD
TCGA novel	175	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA725781 rs779244984	176	M>I		No	ClinGen ExAC
CA339543927 rs1299100406	177	D>A		No	ClinGen TOPMed gnomAD
rs1299100406 CA339543924	177	D>G		No	ClinGen TOPMed gnomAD
CA339543921 rs1299100406	177	D>V		No	ClinGen TOPMed gnomAD
COSM908050 CA339543911 rs1446583276	178	F>L	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1462454273 CA339543878	179	E>D		No	ClinGen gnomAD
rs144073611 RCV000889503 CA725779	179	E>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	185	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867148818 CA339542939	185	D>N		No	ClinGen gnomAD
rs867148818 CA20041217	185	D>Y		No	ClinGen gnomAD
rs748595179 CA725759	188	I>M		No	ClinGen ExAC gnomAD
rs146806836 CA725760	188	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs139681405 CA725758	189	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs755442364 CA725757	190	N>S		No	ClinGen ExAC TOPMed gnomAD
rs752087770 CA725756	193	N>S		No	ClinGen ExAC gnomAD
CA725753 rs200619935	195	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1490783454 CA339542782	196	V>L		No	ClinGen TOPMed
rs1175272213 CA339542769	197	G>W		No	ClinGen gnomAD
rs374128311 CA725751	199	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA339542695 rs1162224576	202	Q>*		No	ClinGen gnomAD
CA725749 rs139257940	203	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1430257454 CA339542671	203	I>T		No	ClinGen gnomAD
rs1011443165 CA20041157	204	A>T		No	ClinGen gnomAD
rs149278145 CA725748	205	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149278145 CA725747	205	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA339542627 rs1201357490	207	L>M		No	ClinGen gnomAD
rs749444926 CA725745	210	R>G		No	ClinGen ExAC gnomAD
rs1277644709 CA339542555	212	I>V		No	ClinGen TOPMed gnomAD
rs200195789 CA725744	213	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA20041131 rs1053171715	214	V>A		No	ClinGen Ensembl
rs1335145792 CA339542495	216	R>*		No	ClinGen gnomAD
rs770095142 CA339542492	216	R>P		No	ClinGen ExAC gnomAD
rs770095142 CA725743	216	R>Q		No	ClinGen ExAC gnomAD
rs1401169711 CA339542489	217	D>N		No	ClinGen gnomAD
CA725736 rs749985174	221	I>L		No	ClinGen ExAC gnomAD
CA339541775 rs1472260097	221	I>M		No	ClinGen gnomAD
TCGA novel	221	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM3789864 rs566564525 CA725734	222	Q>H	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA725735 rs150101123	222	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA725731 rs763914832	226	D>V		No	ClinGen ExAC TOPMed gnomAD
CA725728 rs767540263	230	S>N		No	ClinGen ExAC gnomAD
rs1354492167 CA339541460	233	A>G		No	ClinGen gnomAD
CA725726 rs773303655	233	A>T		No	ClinGen ExAC gnomAD
CA725725 rs769788966	234	E>K		No	ClinGen ExAC gnomAD
TCGA novel	240	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1558432665 CA339541042	246	E>A		No	ClinGen Ensembl
CA725722 rs143281690 COSM1341652	246	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs986191656 CA20040276	247	M>L		No	ClinGen TOPMed gnomAD
CA20040256 rs953500144	247	M>T		No	ClinGen Ensembl
rs986191656 CA339541036	247	M>V		No	ClinGen TOPMed gnomAD
COSM1214804 CA725721 rs747419633	250	F>L	Variant assessed as Somatic; 9.24e-05 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA339540886 rs1558432468	251	F>S		No	ClinGen Ensembl
rs756251873 CA725668	254	M>T		No	ClinGen ExAC gnomAD
CA339540320 rs1379510731	256	Q>K		No	ClinGen gnomAD
rs34835902 CA725664 RCV000894291 VAR_055487	258	R>L		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs34835902 CA725665	258	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766875421 CA725663	261	L>F		No	ClinGen ExAC
rs769426672 CA725661	263	C>S		No	ClinGen ExAC gnomAD
CA725660 rs769426672	263	C>Y		No	ClinGen ExAC gnomAD
CA20039271 rs1049957605	264	V>A		No	ClinGen TOPMed gnomAD
CA20039263 rs768883736	265	G>A		No	ClinGen Ensembl
CA339540146 rs1172963299	265	G>S		No	ClinGen gnomAD
rs747674242 CA725658	267	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1381873980 CA339540088	267	K>N		No	ClinGen gnomAD
CA725657 rs776328593	267	K>R		No	ClinGen ExAC TOPMed gnomAD
rs768150493 CA725656	268	S>G		No	ClinGen ExAC gnomAD
CA339540034 rs1438992608	270	T>K		No	ClinGen gnomAD
rs140895510 CA725654	274	R>Q		No	ClinGen ESP ExAC gnomAD
CA725655 rs746692331	274	R>W		No	ClinGen ExAC TOPMed gnomAD
CA339539899 rs1488497102	275	Q>H		No	ClinGen gnomAD
CA339539872 rs1219720870	277	A>P		No	ClinGen TOPMed gnomAD
CA339539876 rs1219720870	277	A>T		No	ClinGen TOPMed gnomAD
CA725652 rs148978800 RCV000962828	277	A>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs200920712 CA725625	278	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
COSM302632 rs762165267 CA725624	278	R>H	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
CA339539240 rs762165267	278	R>L		No	ClinGen ExAC TOPMed
rs762165267 CA725623	278	R>P		No	ClinGen ExAC TOPMed
rs200920712 CA725626	278	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA20035454 rs778634170	279	G>E		No	ClinGen Ensembl
rs763505310 CA725621	280	G>E		No	ClinGen ExAC gnomAD
rs183136314 CA725622	280	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA339539225 rs1187769319	281	T>I		No	ClinGen TOPMed
rs775101165 CA725619	284	T>A		No	ClinGen ExAC gnomAD
CA339539178 rs1201106795	286	G>A		No	ClinGen TOPMed gnomAD
CA339539179 rs1201106795	286	G>E		No	ClinGen TOPMed gnomAD
CA339539182 rs1261856265	286	G>R		No	ClinGen gnomAD
rs866309993 CA20035402	289	A>T		No	ClinGen TOPMed gnomAD
CA725613 rs749114490	293	V>D		No	ClinGen ExAC gnomAD
rs368580393 CA725614	293	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs768608453 CA725611	294	V>I		No	ClinGen ExAC TOPMed gnomAD
rs948651172 CA20035234	298	S>T		No	ClinGen Ensembl
rs762628630 CA725579	300	L>P		No	ClinGen ExAC gnomAD
rs773024335 COSM3386077 CA725578	301	I>V	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA725576 rs761771473	304	D>N		No	ClinGen ExAC gnomAD
CA339538740 rs1385496590	306	K>E		No	ClinGen TOPMed
CA725574 COSM1687303 rs772262313	308	R>*	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA725575 rs772262313	308	R>G		No	ClinGen ExAC TOPMed gnomAD
CA725573 rs759737314	308	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA725572 rs774404183	309	G>D		No	ClinGen ExAC gnomAD
CA339538697 rs1442205925	309	G>S		No	ClinGen gnomAD
rs771143604 CA725571	313	S>T		No	ClinGen ExAC gnomAD
CA339538584 rs1480275966	314	Q>P		No	ClinGen TOPMed
rs1231038327 CA339538563	315	W>*		No	ClinGen TOPMed
CA725570 rs749494474	315	W>R		No	ClinGen ExAC gnomAD
rs1299612099 CA339538544	316	K>R		No	ClinGen gnomAD
CA725569 rs778142568	317	K>R		No	ClinGen ExAC gnomAD
CA339538520 rs1224859690	318	D>V		No	ClinGen TOPMed
rs770149194 CA725568	322	D>Y		No	ClinGen ExAC gnomAD
rs1171553582 CA339537714	323	Q>*		No	ClinGen gnomAD
rs763169735 CA725550	324	F>L		No	ClinGen ExAC TOPMed gnomAD
CA725549 rs773374221	326	E>*		No	ClinGen ExAC gnomAD
CA725548 rs770132628	326	E>V		No	ClinGen ExAC gnomAD
rs201712564 CA20033973	328	I>T		No	ClinGen 1000Genomes
CA725547 rs748563079	330	T>I		No	ClinGen ExAC
CA339537504 rs1473634904	333	D>N		No	ClinGen TOPMed gnomAD
rs1473634904 CA339537488	333	D>Y		No	ClinGen TOPMed gnomAD
CA339537409 rs957917262	335	I>F		No	ClinGen TOPMed gnomAD
rs1459931852 CA339537400	335	I>N		No	ClinGen gnomAD
CA20033944 rs957917262	335	I>V		No	ClinGen TOPMed gnomAD
CA725544 rs201363919	336	R>C		No	ClinGen ExAC gnomAD
rs779563237 CA725542	336	R>H		No	ClinGen ExAC TOPMed gnomAD
CA725541 rs757907975	337	R>*		No	ClinGen ExAC gnomAD
rs750089240 CA725540 COSM342348	337	R>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA339537359 rs1229698727	338	G>A		No	ClinGen gnomAD
rs778750434 CA725539	338	G>R		No	ClinGen ExAC gnomAD
rs376502800 CA725538	341	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1380272335 CA339537292	341	T>S		No	ClinGen TOPMed gnomAD
rs1329801480 CA339537266	342	A>D		No	ClinGen TOPMed
CA20033902 rs200714705	343	P>A		No	ClinGen Ensembl
rs1379833291 CA339537235	344	A>T		No	ClinGen gnomAD
rs1461578544 CA339537205	345	C>R		No	ClinGen gnomAD
rs552603346 CA20033889	347	Q>*		No	ClinGen 1000Genomes
CA339537126 rs1352866214	348	V>D		No	ClinGen gnomAD
rs760594802 CA725535	349	P>L		No	ClinGen ExAC TOPMed gnomAD
CA339537046 rs1574222531	352	D>A		No	ClinGen Ensembl
rs373400899 CA725531	352	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA339537052 rs763007974	352	D>H		No	ClinGen ExAC gnomAD
rs763007974 CA725532	352	D>N		No	ClinGen ExAC gnomAD
rs137895779 CA725530	354	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs762041697 CA725529	357	L>M		No	ClinGen ExAC gnomAD
CA339536873 TCGA novel rs1223227119	361	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
rs1230690046 CA339536887	361	M>L		No	ClinGen gnomAD
rs768902719 CA725527	365	I>V		No	ClinGen ExAC TOPMed gnomAD
rs747542242 CA725526	366	S>Y		No	ClinGen ExAC gnomAD
CA339536756 rs1416138634	368	K>E		No	ClinGen gnomAD
CA725525 rs146771733	369	Q>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA339536722 rs146771733	369	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA725523 rs745420909	370	I>M		No	ClinGen ExAC TOPMed gnomAD
CA725524 rs771582963	370	I>V		No	ClinGen ExAC gnomAD
CA725522 rs778590713	371	L>F		No	ClinGen ExAC gnomAD
CA725520 rs60891833	372	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA725518 rs755919757	373	M>T		No	ClinGen ExAC gnomAD
CA725519 rs777653562	373	M>V		No	ClinGen ExAC TOPMed gnomAD

1 associated diseases with Q9BV79

[MIM: 617282]: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities (DYTOABG)

An autosomal recessive neurologic disorder characterized by childhood-onset dystonia, basal ganglia degeneration and optic atrophy with decreased visual acuity. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYTOABG severity is variable, and some patients lose independent ambulation. {ECO:0000269|PubMed:27817865}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal recessive neurologic disorder characterized by childhood-onset dystonia, basal ganglia degeneration and optic atrophy with decreased visual acuity. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYTOABG severity is variable, and some patients lose independent ambulation. {ECO:0000269|PubMed:27817865}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for Q9BV79

Type	Name	Position	InterPro Accession
domain	Alcohol dehydrogenase-like, C-terminal	195 - 326	IPR013149
domain	Alcohol dehydrogenase-like, N-terminal	72 - 131	IPR013154
domain	Polyketide synthase, enoylreductase domain	60 - 371	IPR020843

Functions

		Description
EC Number	1.3.1.104	With NAD(+) or NADP(+) as acceptor
Subcellular Localization	[Isoform 1]: Mitochondrion ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 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.
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.

1 GO annotations of molecular function

Name	Definition
trans-2-enoyl-CoA reductase (NADPH) activity	Catalysis of the reaction: acyl-CoA + NADP+ = trans-2,3-dehydroacyl-CoA + NADPH + H+.

2 GO annotations of biological process

Name	Definition
fatty acid biosynthetic process	The chemical reactions and pathways resulting in the formation of a fatty acid, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils. Fatty acids are predominantly straight-chain acids of 4 to 24 carbon atoms, which may be saturated or unsaturated; branched fatty acids and hydroxy fatty acids also occur, and very long chain acids of over 30 carbons are found in waxes.
fatty acid metabolic process	The chemical reactions and pathways involving fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MWVCSTLWRV	RTPARQWRGL	LPASGCHGPA	ASSYSASAEP	ARVRALVYGH	HGDPAKVVEL
70	80	90	100	110	120
KNLELAAVRG	SDVRVKMLAA	PINPSDINMI	QGNYGFLPEL	PAVGGNEGVA	QVVAVGSNVT
130	140	150	160	170	180
GLKPGDWVIP	ANAGLGTWRT	EAVFSEEALI	QVPSDIPLQS	AATLGVNPCT	AYRMLMDFEQ
190	200	210	220	230	240
LQPGDSVIQN	ASNSGVGQAV	IQIAAALGLR	TINVVRDRPD	IQKLSDRLKS	LGAEHVITEE
250	260	270	280	290	300
ELRRPEMKNF	FKDMPQPRLA	LNCVGGKSST	ELLRQLARGG	TMVTYGGMAK	QPVVASVSLL
310	320	330	340	350	360
IFKDLKLRGF	WLSQWKKDHS	PDQFKELILT	LCDLIRRGQL	TAPACSQVPL	QDYQSALEAS
370
MKPFISSKQI	LTM