AiPD: Autoinhibited Protein Database

Q7L5Y1

Gene name	ENOSF1 (RTS, TYMSAS)
Protein name	Mitochondrial enolase superfamily member 1
Names	Antisense RNA to thymidylate synthase, rTS, L-fuconate dehydratase
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55556
EC number	4.2.1.68: Hydro-lyases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

382-443 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

382-443 (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 Q7L5Y1

Entry ID	Method	Resolution	Chain	Position	Source
4A35	X-ray	174 A	A	1-440	PDB
AF-Q7L5Y1-F1	Predicted				AlphaFoldDB

437 variants for Q7L5Y1

Variant ID(s)	Position	Change	Diseaes Association	Provenance
rs986251746 CA295434691	2	V>L	No	ClinGen Ensembl
CA8868723 rs374299384	3	R>C	No	ClinGen ESP ExAC TOPMed
rs904730674 CA295434683	3	R>H	No	ClinGen TOPMed gnomAD
rs1041897857 CA295434682	4	G>R	No	ClinGen TOPMed
rs1310766393 CA401668603	5	R>G	No	ClinGen gnomAD
rs1009345953 CA295434676	5	R>K	No	ClinGen TOPMed
rs765408901 CA8868721	6	I>F	No	ClinGen ExAC TOPMed gnomAD
rs765408901 CA401668596	6	I>V	No	ClinGen ExAC TOPMed gnomAD
CA8868720 rs3786349	7	S>C	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs3786349 CA8868719	7	S>F	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1474400636 CA401668585	8	R>Q	No	ClinGen TOPMed gnomAD
rs766581721 CA8868718	10	S>L	No	ClinGen ExAC gnomAD
rs1212835980 CA401668575	10	S>P	No	ClinGen TOPMed
CA295434610 rs376568535	11	V>I	No	ClinGen ESP TOPMed gnomAD
CA401668566 rs137857534	12	R>G	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8868717 rs137857534	12	R>W	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1376368096 CA401668561	13	D>H	No	ClinGen TOPMed
rs1376368096 CA401668562	13	D>N	No	ClinGen TOPMed
CA295434603 rs982470370	14	V>M	No	ClinGen TOPMed gnomAD
rs1210500233 CA401668547	15	R>C	No	ClinGen TOPMed gnomAD
CA401668546 rs1483405232	15	R>P	No	ClinGen gnomAD
rs952440711 CA295434598	17	P>S	No	ClinGen TOPMed
CA295434601 rs952440711	17	P>T	No	ClinGen TOPMed
CA401668530 rs1026770247	18	T>A	No	ClinGen Ensembl
rs1026770247 CA295434590	18	T>S	No	ClinGen Ensembl
CA401668524 rs1325176595	19	S>A	No	ClinGen TOPMed
rs568191831 CA295434581	20	L>R	No	ClinGen 1000Genomes
rs1276900315 CA401668514	21	G>R	No	ClinGen TOPMed gnomAD
rs771751918 CA295434561	22	G>C	No	ClinGen ExAC
CA401668508 rs1235961247	22	G>D	No	ClinGen TOPMed
rs771751918 CA8868715	22	G>R	No	ClinGen ExAC
CA295434552 rs930575062	23	H>L	No	ClinGen TOPMed gnomAD
CA401668502 rs930575062	23	H>P	No	ClinGen TOPMed gnomAD
CA401668501 rs930575062	23	H>R	No	ClinGen TOPMed gnomAD
CA401668495 rs1568164454	24	G>A	No	ClinGen Ensembl
CA295434540 rs370417606	24	G>S	No	ClinGen ESP TOPMed gnomAD
rs1313043892 CA401668489	25	A>G	No	ClinGen TOPMed gnomAD
rs1313043892 CA401668488	25	A>V	No	ClinGen TOPMed gnomAD
CA401668481 rs1013489148	26	D>E	No	ClinGen TOPMed gnomAD
CA401668485 rs1389716245	26	D>G	No	ClinGen gnomAD
CA295434534 rs1025248732	26	D>Y	No	ClinGen Ensembl
rs201382707 CA295434497	28	M>T	No	ClinGen 1000Genomes TOPMed gnomAD
rs892400712 CA295434504	28	M>V	No	ClinGen TOPMed gnomAD
CA401668099 rs1432922735	29	H>L	No	ClinGen gnomAD
CA8868677 rs140842890	30	T>M	No	ClinGen ESP ExAC TOPMed gnomAD
CA8868676 VAR_042933 rs34724061	31	D>E	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs779387905 CA401668073	32	P>A	No	ClinGen ExAC gnomAD
rs779387905 CA8868675	32	P>S	No	ClinGen ExAC gnomAD
rs1417742707 CA401668044	34	Y>*	No	ClinGen TOPMed gnomAD
rs1179155706 CA401668047	34	Y>C	No	ClinGen TOPMed
rs755594046 CA8868673	35	S>L	No	ClinGen ExAC TOPMed gnomAD
rs527317712 CA8868670	37	A>V	No	ClinGen 1000Genomes ExAC gnomAD
rs142476712 CA8868669	38	Y>C	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8868667 rs761630686	40	V>I	No	ClinGen ExAC TOPMed gnomAD
CA295428859 rs761630686	40	V>L	No	ClinGen ExAC TOPMed gnomAD
rs751398112 CA8868666	41	I>V	No	ClinGen ExAC TOPMed gnomAD
rs536458007 CA8868665	43	T>A	No	ClinGen ExAC gnomAD
rs1379687060 CA401667951	43	T>S	No	ClinGen gnomAD
CA8868664 rs762941161	45	A>G	No	ClinGen ExAC gnomAD
rs775220763 CA8868663	46	E>K	No	ClinGen ExAC TOPMed gnomAD
rs147206140 CA8868662	48	G>A	No	ClinGen ESP ExAC TOPMed gnomAD
rs147206140 CA8868661	48	G>E	No	ClinGen ESP ExAC TOPMed gnomAD
CA401667886 rs147206140	48	G>V	No	ClinGen ESP ExAC TOPMed gnomAD
rs1337026417 CA401667876	49	I>L	No	ClinGen TOPMed
rs974805680 CA295428824	50	K>E	No	ClinGen TOPMed gnomAD
CA401667859 rs1278617221	50	K>R	No	ClinGen TOPMed
CA401667849 rs1478771630	51	G>E	No	ClinGen gnomAD
CA401667830 rs1335032889	52	C>Y	No	ClinGen TOPMed
CA401667818 rs1234714159	53	G>E	No	ClinGen TOPMed
CA8868659 rs562303979	57	T>S	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401667736 rs1416457745	59	G>E	No	ClinGen gnomAD
CA295428798 rs978930329	60	K>E	No	ClinGen TOPMed
rs779479045 CA401667709	61	G>A	No	ClinGen ExAC TOPMed gnomAD
rs779479045 CA8868657	61	G>D	No	ClinGen ExAC TOPMed gnomAD
CA8868656 rs145245848	62	T>I	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401667681 rs1369298439	63	E>A	No	ClinGen TOPMed
CA295416030 rs772352232	66	V>F	No	ClinGen Ensembl
CA295416025 rs746367017	67	C>S	No	ClinGen ExAC TOPMed gnomAD
CA8868630 rs746367017	67	C>Y	No	ClinGen ExAC TOPMed gnomAD
CA401666886 rs1256284888	69	V>A	No	ClinGen TOPMed
rs374563667 CA8868628	73	A>T	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8868627 rs747242007	74	H>L	No	ClinGen ExAC gnomAD
rs1242337934 CA401666851	75	H>D	No	ClinGen TOPMed
rs1361498328 CA401666848	75	H>R	No	ClinGen TOPMed gnomAD
rs758219800 CA8868625	77	L>P	No	ClinGen ExAC TOPMed gnomAD
CA8868624 rs752473247	78	N>S	No	ClinGen ExAC TOPMed gnomAD
rs1470767357 CA401666822	79	K>R	No	ClinGen gnomAD
rs754930127 CA8868622	80	D>E	No	ClinGen ExAC gnomAD
CA401666799 rs1403378490	82	K>N	No	ClinGen gnomAD
CA8868621 rs753811305	84	I>V	No	ClinGen ExAC TOPMed gnomAD
rs201104611 CA8868619	85	V>G	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8868617 rs760205110	87	D>E	No	ClinGen ExAC gnomAD
CA295415905 rs1001778681	89	R>T	No	ClinGen Ensembl
rs773025478 CA8868616	90	G>D	No	ClinGen ExAC gnomAD
rs767241693 CA8868615	91	F>S	No	ClinGen ExAC
rs761498478 CA8868614	94	Q>*	No	ClinGen ExAC gnomAD
rs775769178 CA8868613	95	L>V	No	ClinGen ExAC TOPMed gnomAD
rs770187158 CA8868611	96	T>R	No	ClinGen ExAC gnomAD
rs1598732584 CA401666700	97	S>R	No	ClinGen Ensembl
CA401666690 rs1437650355	99	G>R	No	ClinGen TOPMed
CA401666673 rs1361855699	101	L>P	No	ClinGen TOPMed
rs371394055 CA8868610	101	L>V	No	ClinGen ESP ExAC TOPMed gnomAD
CA401666671 rs1287982654	102	R>*	No	ClinGen gnomAD
rs759891773 CA8868591	104	I>V	No	ClinGen ExAC TOPMed gnomAD
rs777149939 CA8868590	106	P>L	No	ClinGen ExAC gnomAD
CA401666619 rs1255410894	107	E>K	No	ClinGen gnomAD
CA8868588 rs375897872	110	V>M	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8868587 rs773336440	111	V>L	No	ClinGen ExAC gnomAD
CA8868586 rs547995493	112	H>P	No	ClinGen 1000Genomes ExAC gnomAD
CA8868585 rs150777254	114	A>V	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs562867470 CA8868582	116	A>E	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8868583 rs562867470	116	A>V	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756172667 CA8868580	117	A>V	No	ClinGen ExAC TOPMed gnomAD
rs200914271 CA8868578	118	V>F	No	ClinGen 1000Genomes ExAC gnomAD
CA8868577 rs200914271	118	V>I	No	ClinGen 1000Genomes ExAC gnomAD
CA295412779 rs766447804	119	L>P	No	ClinGen Ensembl
CA8868576 rs751190272	120	N>K	No	ClinGen ExAC TOPMed gnomAD
rs1048472827 CA401666509	121	A>P	No	ClinGen TOPMed gnomAD
rs1048472827 CA295412761	121	A>T	No	ClinGen TOPMed gnomAD
CA8868575 rs763758268	121	A>V	No	ClinGen ExAC TOPMed gnomAD
CA8868573 rs138575804	122	V>M	No	ClinGen ESP ExAC TOPMed gnomAD
CA295412702 rs1038119727	124	D>E	No	ClinGen TOPMed gnomAD
rs766713866 CA8868572	124	D>G	No	ClinGen ExAC gnomAD
rs773643011 CA8868570	125	L>F	No	ClinGen ExAC TOPMed gnomAD
CA8868571 rs370291890	125	L>S	No	ClinGen ESP ExAC TOPMed
CA401666468 rs1253945373	126	W>*	No	ClinGen gnomAD
rs144714633 CA8868569	126	W>G	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8868568 rs370363817	127	A>G	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8868567 rs555175383	130	E>V	No	ClinGen 1000Genomes ExAC
rs768965801 CA8868566	131	G>R	No	ClinGen ExAC gnomAD
rs1466602980 CA401666419	132	K>M	No	ClinGen TOPMed
CA8868531 rs778491020	133	P>L	No	ClinGen ExAC gnomAD
CA8868529 rs750841790	134	V>A	No	ClinGen ExAC gnomAD
rs756503190 CA8868530	134	V>I	No	ClinGen ExAC gnomAD
CA401666358 rs1215451407	138	L>P	No	ClinGen TOPMed gnomAD
rs767755388 CA8868528	139	V>A	No	ClinGen ExAC TOPMed
rs767755388 CA295412173	139	V>G	No	ClinGen ExAC TOPMed
rs1213555394 CA401666344	140	D>G	No	ClinGen TOPMed
CA401666336 rs1345647062	141	M>L	No	ClinGen TOPMed gnomAD
CA401666337 rs1345647062	141	M>V	No	ClinGen TOPMed gnomAD
CA401665969 rs1598666769	142	D>N	No	ClinGen Ensembl
rs772039781 CA401665960	143	P>A	No	ClinGen ExAC TOPMed gnomAD
rs772039781 CA8868494	143	P>S	No	ClinGen ExAC TOPMed gnomAD
CA401665961 rs772039781	143	P>T	No	ClinGen ExAC TOPMed gnomAD
CA8868493 rs761718426	144	R>G	No	ClinGen ExAC gnomAD
VAR_042934 rs2612086 CA8868492	145	M>T	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8868491 rs768153033	147	V>A	No	ClinGen ExAC gnomAD
CA401665930 rs1315246326	148	S>P	No	ClinGen gnomAD
CA401665916 rs1489008729	150	I>K	No	ClinGen gnomAD
CA401665917 rs143796568	150	I>L	No	ClinGen ESP ExAC TOPMed gnomAD
CA8868488 rs143796568	150	I>V	No	ClinGen ESP ExAC TOPMed gnomAD
CA8868487 rs747369647	151	D>H	No	ClinGen ExAC gnomAD
rs778257743 CA8868486	152	F>Y	No	ClinGen ExAC gnomAD
rs753249529 CA8868484	153	R>S	No	ClinGen ExAC TOPMed gnomAD
CA401665897 rs1389551520	153	R>W	No	ClinGen gnomAD
rs776122621 CA8868482	154	Y>*	No	ClinGen ExAC TOPMed gnomAD
CA8868483 rs779136532	154	Y>C	No	ClinGen ExAC gnomAD
CA8868480 rs766471909	155	I>V	No	ClinGen ExAC TOPMed
CA8868477 rs760922806	156	T>I	No	ClinGen ExAC TOPMed gnomAD
rs767289979 CA8868475	157	D>A	No	ClinGen ExAC gnomAD
CA8868476 rs377711094	157	D>H	No	ClinGen ESP ExAC TOPMed gnomAD
rs1196473271 CA401665862	159	L>V	No	ClinGen TOPMed gnomAD
rs774212353 CA8868473	161	E>D	No	ClinGen ExAC gnomAD
rs576654575 CA295409874	162	E>K	No	ClinGen ExAC gnomAD
rs576654575 CA8868472	162	E>Q	No	ClinGen ExAC gnomAD
CA8868471 rs762326635	163	D>N	No	ClinGen ExAC TOPMed gnomAD
rs1568078411 CA401665828	164	A>G	No	ClinGen Ensembl
rs1027287887 CA295409863	164	A>T	No	ClinGen Ensembl
rs781347038 CA8868438	166	E>D	No	ClinGen ExAC gnomAD
rs932676762 CA295409656	167	I>V	No	ClinGen Ensembl
CA8868437 rs757436341	169	Q>R	No	ClinGen ExAC
rs751400199 CA8868436	171	G>R	No	ClinGen ExAC gnomAD
rs185301866 CA401665767 CA8868434	172	Q>H	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752612374 CA8868433	177	E>K	No	ClinGen ExAC
rs866858665 CA295409566	178	R>G	No	ClinGen gnomAD
rs764665838 CA8868431	178	R>S	No	ClinGen ExAC gnomAD
CA8868371 rs750069153	180	K>R	No	ClinGen ExAC gnomAD
rs772893972 CA8868369	181	Q>H	No	ClinGen ExAC gnomAD
CA8868370 rs767162167	181	Q>R	No	ClinGen ExAC gnomAD
rs373636779 CA8868368	183	L>V	No	ClinGen ESP ExAC TOPMed gnomAD
CA8868365 rs538088633	184	A>S	No	ClinGen 1000Genomes ExAC gnomAD
rs766467725 CA8868364	185	Q>R	No	ClinGen ExAC TOPMed gnomAD
rs1449995982 CA401665667	186	G>R	No	ClinGen TOPMed
CA8868362 rs773134176	187	Y>C	No	ClinGen ExAC gnomAD
rs1215316751 CA401665652	188	P>A	No	ClinGen TOPMed gnomAD
rs149011267 CA8868361	188	P>L	No	ClinGen ESP ExAC TOPMed gnomAD
rs1215316751 CA401665653	188	P>T	No	ClinGen TOPMed gnomAD
rs569757909 CA8868359	189	A>G	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8868360 rs748305694	189	A>T	No	ClinGen ExAC gnomAD
CA295408890 rs569757909	189	A>V	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1356211942 CA627886162	190	Y>*	No	ClinGen gnomAD
rs1306784881 CA401665637	191	T>A	No	ClinGen TOPMed
CA8868358 rs769391707	191	T>M	No	ClinGen ExAC TOPMed gnomAD
CA8868356 rs780093389	193	S>L	No	ClinGen ExAC TOPMed gnomAD
CA401665620 rs1412055306	194	C>S	No	ClinGen TOPMed gnomAD
rs181508570 CA401665613	195	A>S	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs181508570 CA8868353	195	A>T	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401665602 rs1598656155	196	W>C	No	ClinGen Ensembl
CA295408857 rs766290465	196	W>L	No	ClinGen Ensembl
rs1417974536 CA401665596	198	G>R	No	ClinGen gnomAD
rs150240328 CA8868351	198	G>V	No	ClinGen ESP ExAC TOPMed gnomAD
rs142575233 CA8868349	201	D>G	No	ClinGen ESP ExAC TOPMed gnomAD
CA8868348 rs376114352	202	D>N	No	ClinGen ESP ExAC gnomAD
CA8868346 rs147623551	203	T>M	No	ClinGen 1000Genomes ExAC TOPMed
CA401665559 rs147623551	203	T>R	No	ClinGen 1000Genomes ExAC TOPMed
rs565636412 CA8868343	204	L>W	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs147691635 CA8868342	206	Q>R	No	ClinGen ESP ExAC gnomAD
rs769405425 CA8868318	207	L>F	No	ClinGen ExAC gnomAD
rs759528413 CA8868317	207	L>P	No	ClinGen ExAC TOPMed gnomAD
rs770503781 CA8868315	210	Q>E	No	ClinGen ExAC TOPMed gnomAD
CA295406589 rs1009401876	210	Q>H	No	ClinGen Ensembl
rs563225083 CA8868314	211	A>V	No	ClinGen ExAC TOPMed gnomAD
rs1286001366 CA401665036	212	L>P	No	ClinGen gnomAD
rs374752244 CA8868312	214	D>G	No	ClinGen ESP ExAC TOPMed gnomAD
CA401665017 rs1314349050	214	D>Y	No	ClinGen gnomAD
rs1384729908 CA401664993	216	W>R	No	ClinGen gnomAD
CA8868311 rs747794065	217	T>A	No	ClinGen ExAC gnomAD
rs747794065 CA401664975	217	T>P	No	ClinGen ExAC gnomAD
CA8868310 rs780472331	218	R>G	No	ClinGen ExAC TOPMed gnomAD
CA8868283 rs755180371	221	V>A	No	ClinGen ExAC gnomAD
CA401664433 rs1348616560	221	V>L	No	ClinGen TOPMed
CA401664425 rs1200171000	222	K>E	No	ClinGen gnomAD
CA295400928 rs771396295	224	G>A	No	ClinGen gnomAD
CA295400926 rs771396295	224	G>V	No	ClinGen gnomAD
rs139466480 CA8868282	225	A>V	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8868281 rs373139910	226	D>N	No	ClinGen ESP ExAC TOPMed gnomAD
CA8868280 rs373139910	226	D>Y	No	ClinGen ESP ExAC TOPMed gnomAD
rs767061272 CA8868278	229	D>V	No	ClinGen ExAC gnomAD
rs369142925 CA8868277	230	D>G	No	ClinGen ESP ExAC TOPMed gnomAD
rs369142925 CA8868276	230	D>V	No	ClinGen ESP ExAC TOPMed gnomAD
rs1395203374 CA401664353	230	D>Y	No	ClinGen gnomAD
rs376011327 CA8868275	231	M>L	No	ClinGen ESP ExAC TOPMed gnomAD
CA8868274 rs376011327	231	M>V	No	ClinGen ESP ExAC TOPMed gnomAD
rs776860060 CA8868273	232	R>*	No	ClinGen ExAC TOPMed gnomAD
CA401664340 rs1399928495	232	R>Q	No	ClinGen gnomAD
rs983124660 CA295400905	233	R>S	No	ClinGen TOPMed gnomAD
rs771413601 CA8868272	234	C>R	No	ClinGen ExAC TOPMed gnomAD
CA401664326 rs1367207749	234	C>W	No	ClinGen gnomAD
rs1443654028 CA401664329	234	C>Y	No	ClinGen TOPMed gnomAD
CA8868271 rs139825033	235	Q>H	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778396622 CA8868270	236	I>M	No	ClinGen ExAC gnomAD
CA401664307 rs1195146943	237	I>M	No	ClinGen gnomAD
CA8868269 rs758936293	237	I>S	No	ClinGen ExAC TOPMed gnomAD
CA8868268 rs748201518	238	R>*	No	ClinGen ExAC TOPMed gnomAD
rs778994924 CA8868267	238	R>Q	No	ClinGen ExAC TOPMed gnomAD
CA401664299 rs1445055685	239	D>G	No	ClinGen gnomAD
CA401664290 rs1598612828	240	M>I	No	ClinGen Ensembl
CA401664292 rs1209886525	240	M>T	No	ClinGen gnomAD
rs755160887 CA8868266	240	M>V	No	ClinGen ExAC gnomAD
CA8868265 rs757980419	241	I>N	No	ClinGen ExAC TOPMed gnomAD
rs757980419 CA401664284	241	I>T	No	ClinGen ExAC TOPMed gnomAD
rs1171650181 CA401664276	242	G>V	No	ClinGen TOPMed
CA8868264 rs766220285	243	P>L	No	ClinGen ExAC TOPMed gnomAD
CA8868262 rs750398976	244	E>K	No	ClinGen ExAC gnomAD
rs767471966 CA8868261	245	K>E	No	ClinGen ExAC gnomAD
rs761758093 CA8868260	246	T>A	No	ClinGen ExAC TOPMed gnomAD
rs1478808409 CA401664226	248	M>I	No	ClinGen gnomAD
rs757142346 CA8868242	248	M>V	No	ClinGen ExAC gnomAD
CA8868241 rs763566289 CA8868240	249	M>L	No	ClinGen ExAC gnomAD
rs372414785 CA8868239	252	N>S	No	ClinGen ExAC TOPMed gnomAD
CA401664200 rs372414785	252	N>T	No	ClinGen ExAC TOPMed gnomAD
CA401664192 rs1272137690	253	Q>R	No	ClinGen gnomAD
rs142662421 CA8868238	254	R>C	No	ClinGen ESP ExAC TOPMed gnomAD
CA401664185 rs1446158374	254	R>H	No	ClinGen gnomAD
rs1446158374 CA401664183	254	R>L	No	ClinGen gnomAD
rs1446158374 CA401664184	254	R>P	No	ClinGen gnomAD
rs1213947426 CA401664180	255	W>*	No	ClinGen TOPMed
CA8868237 rs369075215	255	W>R	No	ClinGen ESP ExAC gnomAD
rs376721481 CA8868236	260	A>V	No	ClinGen ESP ExAC TOPMed gnomAD
CA401664136 rs1598586861	261	V>G	No	ClinGen Ensembl
CA8868234 rs772481759	262	E>K	No	ClinGen ExAC gnomAD
CA8868233 rs762285689	264	M>V	No	ClinGen ExAC gnomAD
rs1598586770 CA401664109	265	S>A	No	ClinGen Ensembl
CA295399203 rs372429260	266	K>E	No	ClinGen ESP TOPMed gnomAD
rs1177862972 CA401664102	266	K>R	No	ClinGen TOPMed
rs1598586622 CA401664095	267	L>R	No	ClinGen Ensembl
rs774899350 CA8868232	267	L>V	No	ClinGen ExAC TOPMed gnomAD
CA401664088 rs1426939609	269	K>E	No	ClinGen TOPMed
rs1413169041 CA401664082	269	K>N	No	ClinGen gnomAD
CA401664083 rs1336544100	269	K>R	No	ClinGen gnomAD
CA8868230 rs749399622	270	F>Y	No	ClinGen ExAC gnomAD
CA401664072 rs1175306470	271	K>E	No	ClinGen gnomAD
CA401664068 rs1568039215	271	K>R	No	ClinGen Ensembl
rs1301899130 CA401664064	272	P>A	No	ClinGen TOPMed
rs780057568 CA8868229	272	P>L	No	ClinGen ExAC TOPMed gnomAD
rs538766290 CA8868228	274	W>*	No	ClinGen 1000Genomes ExAC gnomAD
CA401664037 rs1191336430	274	W>C	No	ClinGen gnomAD
rs986107386 CA295399173	275	I>F	No	ClinGen Ensembl
rs201722712 CA8868227	277	E>K	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781028740 CA8868226	278	P>L	No	ClinGen ExAC gnomAD
rs1568038970 CA401663991	278	P>T	No	ClinGen Ensembl
rs146518307 CA8868225	279	T>A	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401663975 rs1598586113	279	T>I	No	ClinGen Ensembl
rs998095401 CA295399167	280	S>A	No	ClinGen TOPMed gnomAD
rs202027658 CA8868224	280	S>C	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777800345 CA8868223	281	P>T	No	ClinGen ExAC gnomAD
rs1380500193 CA401663920	284	I>L	No	ClinGen gnomAD
CA8868221 rs758222721	285	L>P	No	ClinGen ExAC TOPMed gnomAD
CA295399133 rs1006456218	287	H>N	No	ClinGen Ensembl
CA8868219 rs376976768	288	A>T	No	ClinGen ESP ExAC TOPMed gnomAD
rs1465825133 CA401663863	288	A>V	No	ClinGen gnomAD
CA8868218 rs567655461	289	T>A	No	ClinGen 1000Genomes ExAC gnomAD
CA8868216 rs372476837	292	K>N	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1048066864 CA295399114	292	K>R	No	ClinGen gnomAD
CA401662915 rs1598538973	297	L>S	No	ClinGen Ensembl
CA401662910 rs1351996515	298	G>R	No	ClinGen gnomAD
rs1367610747 CA401662902	299	I>T	No	ClinGen gnomAD
rs747134843 CA8868186	299	I>V	No	ClinGen ExAC gnomAD
rs376476881 CA8868185	302	A>D	No	ClinGen ESP ExAC TOPMed gnomAD
CA401662872 rs1391995111	304	G>E	No	ClinGen TOPMed
CA401662860 rs771980066	306	Q>*	No	ClinGen ExAC gnomAD
CA8868184 rs771980066	306	Q>K	No	ClinGen ExAC gnomAD
rs774238322 CA8868164	307	C>W	No	ClinGen ExAC TOPMed gnomAD
rs749112115 CA401662822	309	N>K	No	ClinGen ExAC gnomAD
rs182625199 CA8868163	309	N>S	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769170683 CA8868160	311	V>G	No	ClinGen ExAC TOPMed gnomAD
CA8868161 rs543122758	311	V>L	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401662802 rs1201399202	313	F>L	No	ClinGen TOPMed gnomAD
rs894698185 CA295396352	315	Q>*	No	ClinGen TOPMed
rs1322126981 CA401662774	317	L>I	No	ClinGen TOPMed gnomAD
rs1234702955 CA401662766	318	Q>R	No	ClinGen TOPMed gnomAD
rs756858370 CA8868157	319	A>V	No	ClinGen ExAC TOPMed gnomAD
CA8868155 rs779184809	320	K>Q	No	ClinGen ExAC gnomAD
CA401662747 rs1381105114	321	A>S	No	ClinGen gnomAD
rs1439260586 CA401662736	323	Q>*	No	ClinGen TOPMed
rs1334901228 CA401662732	323	Q>H	No	ClinGen gnomAD
rs1598529292 CA401662734	323	Q>R	No	ClinGen Ensembl
CA8868154 rs755577749	326	Q>H	No	ClinGen ExAC gnomAD
CA8868153 rs754289185	327	I>T	No	ClinGen ExAC gnomAD
rs1460574939 CA401662690	329	S>I	No	ClinGen TOPMed gnomAD
rs201099212 CA8868152	330	C>*	No	ClinGen ExAC TOPMed gnomAD
rs1372977663 CA401662682	330	C>F	No	ClinGen gnomAD
rs913894727 CA295396336	332	L>Q	No	ClinGen TOPMed gnomAD
rs913894727 CA401662670	332	L>R	No	ClinGen TOPMed gnomAD
rs865889270 CA295396332	333	G>D	No	ClinGen gnomAD
rs1460587498 CA401662663	334	S>G	No	ClinGen gnomAD
rs759183180 CA8868151	336	N>S	No	ClinGen ExAC TOPMed gnomAD
rs750474763 CA8868150	337	E>G	No	ClinGen ExAC TOPMed gnomAD
CA401662626 rs1336921601	339	L>F	No	ClinGen gnomAD
CA8868147 rs557315151	340	S>*	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8868148 rs372512313	340	S>P	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs372512313 CA8868149	340	S>T	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768564048 CA8868146	343	L>P	No	ClinGen ExAC gnomAD
rs1451722643 CA401662564	344	M>I	No	ClinGen gnomAD
CA8868145 rs763002886	344	M>T	No	ClinGen ExAC gnomAD
CA401662559 rs1377899807	345	A>P	No	ClinGen gnomAD
CA401662548 rs1328466445	346	K>E	No	ClinGen TOPMed
CA8868118 rs776194036	350	I>S	No	ClinGen ExAC gnomAD
CA401662410 rs1469680443	351	P>S	No	ClinGen TOPMed gnomAD
rs1469680443 CA8868115	351	P>T	No	ClinGen TOPMed gnomAD
rs770415049 CA8868114	352	V>I	No	ClinGen ExAC gnomAD
rs199759857 CA295396143	354	P>A	No	ClinGen 1000Genomes
CA8868111 rs139944321	355	H>R	No	ClinGen ESP ExAC TOPMed
CA8868110 rs749636026	358	G>R	No	ClinGen ExAC gnomAD
rs145955718 CA8868109	359	V>I	No	ClinGen ESP ExAC TOPMed gnomAD
rs769762690 CA8868104	362	C>*	No	ClinGen ExAC TOPMed gnomAD
CA8868105 rs555387034	362	C>S	No	ClinGen ExAC TOPMed gnomAD
CA401662233 rs555387034	362	C>Y	No	ClinGen ExAC TOPMed gnomAD
CA401662197 rs1275703544	365	V>M	No	ClinGen gnomAD
rs1426053879 CA401662182	366	Q>E	No	ClinGen TOPMed
CA401662171 rs1242946935	367	H>D	No	ClinGen TOPMed gnomAD
CA401662168 rs1343740640	367	H>P	No	ClinGen TOPMed gnomAD
rs930526668 CA295396119	367	H>Q	No	ClinGen TOPMed
CA401662169 rs1242946935	367	H>Y	No	ClinGen TOPMed gnomAD
rs1283144904 CA401662154	369	I>S	No	ClinGen gnomAD
rs1216933179 CA401662158	369	I>V	No	ClinGen gnomAD
CA8868101 rs758592258	370	I>M	No	ClinGen ExAC gnomAD
CA8868100 rs200409562	371	F>S	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs531031825 CA8868099	372	D>G	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1333783754 CA401662138	372	D>H	No	ClinGen TOPMed
rs1383756870 CA401662128	373	Y>C	No	ClinGen gnomAD
rs1172832240 CA401662124	374	I>L	No	ClinGen gnomAD
CA401662118 rs1470643048	374	I>M	No	ClinGen gnomAD
CA401662117 rs776529787	375	S>P	No	ClinGen ExAC gnomAD
rs776529787 CA8868097	375	S>T	No	ClinGen ExAC gnomAD
rs1361462110 CA401662106	377	S>P	No	ClinGen TOPMed
CA401662095 rs1198146325	378	A>V	No	ClinGen gnomAD
CA401662071 rs1243929021	382	N>D	No	ClinGen TOPMed
rs1446242901 CA627884455	383	R>K	No	ClinGen gnomAD
rs1431156255 CA401661822	384	V>A	No	ClinGen gnomAD
CA401661824 rs1335706620	384	V>L	No	ClinGen gnomAD
rs770318297 CA8868069	385	C>Y	No	ClinGen ExAC gnomAD
CA295395304 rs369156946	387	Y>D	No	ClinGen Ensembl
CA8868067 rs777083568	388	V>A	No	ClinGen ExAC TOPMed gnomAD
rs1275477457 CA401661723	389	D>G	No	ClinGen TOPMed
rs1165217925 CA401661750	389	D>N	No	ClinGen gnomAD
rs1275477457 CA401661729	389	D>V	No	ClinGen TOPMed
CA401661660 rs1481625481	392	H>Q	No	ClinGen gnomAD
CA401661601 rs1385976686	396	K>Q	No	ClinGen gnomAD
CA295395289 rs1021934235	397	Y>*	No	ClinGen TOPMed gnomAD
CA8868064 rs777777414	398	P>S	No	ClinGen ExAC TOPMed gnomAD
rs774860316 CA8868060	399	V>L	No	ClinGen ExAC TOPMed gnomAD
rs774860316 CA8868061	399	V>M	No	ClinGen ExAC TOPMed gnomAD
CA8868058 rs753647529	401	I>T	No	ClinGen ExAC TOPMed gnomAD
CA295395267 rs999133652	402	Q>H	No	ClinGen Ensembl
CA8868056 rs779756728	402	Q>P	No	ClinGen ExAC TOPMed gnomAD
CA401661406 rs1295937924	403	R>Q	No	ClinGen TOPMed gnomAD
CA8868055 rs200707696	403	R>W	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs114884478 CA8868054	404	A>T	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1598505202 CA401661372	405	S>F	No	ClinGen Ensembl
rs766984806 CA8868053	405	S>P	No	ClinGen ExAC TOPMed gnomAD
rs1304913990 CA401661350	407	M>K	No	ClinGen gnomAD
rs1364749571 CA401661315	410	K>E	No	ClinGen TOPMed gnomAD
CA401661302 rs996825186	410	K>N	No	ClinGen TOPMed gnomAD
rs1158918920 CA401660995	412	P>A	No	ClinGen TOPMed
rs1311564654 CA401660993	412	P>R	No	ClinGen gnomAD
CA8868022 rs768707575	413	G>S	No	ClinGen ExAC TOPMed gnomAD
CA8868021 rs749560981	413	G>V	No	ClinGen ExAC gnomAD
CA401660983 rs1317369327	414	Y>C	No	ClinGen TOPMed
rs769865240 CA8868019	415	S>*	No	ClinGen ExAC gnomAD
rs1041690183 CA295394744	416	T>R	No	ClinGen gnomAD
CA401660967 rs1438542196	417	E>K	No	ClinGen TOPMed
rs867505429 CA295394738	419	K>E	No	ClinGen Ensembl
CA401660935 rs1174343295	421	E>Q	No	ClinGen gnomAD
rs1261479678 CA401660890	427	Q>*	No	ClinGen gnomAD
CA295394734 VAR_042935 rs2847620	428	Y>S	No	ClinGen UniProt Ensembl dbSNP
rs757221077 CA8868014	429	P>A	No	ClinGen ExAC gnomAD
rs746910083 CA8868013	429	P>R	No	ClinGen ExAC gnomAD
CA401660867 rs550769807	430	D>E	No	ClinGen TOPMed gnomAD
rs1351773743 CA401660853	432	E>D	No	ClinGen TOPMed
CA295394719 rs565811407	433	V>A	No	ClinGen gnomAD
CA8868012 rs777477680	433	V>F	No	ClinGen ExAC TOPMed gnomAD
rs777477680 CA295394723	433	V>I	No	ClinGen ExAC TOPMed gnomAD
CA401660834 rs1305080681	434	W>*	No	ClinGen gnomAD
CA401660847 rs1366091166	434	W>R	No	ClinGen gnomAD
CA401660806 rs1305761428	436	K>E	No	ClinGen gnomAD
CA8868009 rs111447271	438	L>F	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401660778 rs750805379	438	L>P	No	ClinGen ExAC TOPMed gnomAD
rs750805379 CA8868007	438	L>R	No	ClinGen ExAC TOPMed gnomAD
rs111447271 CA8868008	438	L>V	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767767729 CA8868005	439	P>R	No	ClinGen ExAC gnomAD
rs1460915751 CA401660760	440	A>T	No	ClinGen gnomAD
CA401660748 rs1373068595	441	Q>E	No	ClinGen TOPMed gnomAD
rs1468285265 CA401660735	442	E>K	No	ClinGen TOPMed
CA401660696 rs1446853147	444	N>E	No	ClinGen gnomAD
CA295394685 rs1050740087	444	N>L	No	ClinGen TOPMed
rs764198324 CA8868002	444	N>S	No	ClinGen ExAC gnomAD

No associated diseases with Q7L5Y1

4 regional properties for Q7L5Y1

Type	Name	Position	InterPro Accession
domain	Mandelate racemase/muconate lactonizing enzyme, N-terminal domain	35 - 138	IPR013341
domain	Mandelate racemase/muconate lactonizing enzyme, C-terminal	201 - 296	IPR013342
conserved_site	Mandelate racemase/muconate lactonizing enzyme, conserved site	247 - 278	IPR018110
domain	Enolase C-terminal domain-like	206 - 421	IPR029065

Functions

		Description
EC Number	4.2.1.68	Hydro-lyases
Subcellular Localization	Mitochondrion
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

1 GO annotations of cellular component

Name	Definition
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.

4 GO annotations of molecular function

Name	Definition
hydro-lyase activity	Catalysis of the cleavage of a carbon-oxygen bond by elimination of water.
isomerase activity	Catalysis of the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5.
L-fuconate dehydratase activity	Catalysis of the reaction: L-fuconate = 2-dehydro-3-deoxy-L-fuconate + H(2)O.
magnesium ion binding	Binding to a magnesium (Mg) ion.

3 GO annotations of biological process

Name	Definition
carbohydrate catabolic process	The chemical reactions and pathways resulting in the breakdown of carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y.
cellular amino acid catabolic process	The chemical reactions and pathways resulting in the breakdown of amino acids, organic acids containing one or more amino substituents.
cellular carbohydrate catabolic process	The chemical reactions and pathways resulting in the breakdown of carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells.

No homologous proteins in AiPD

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

10	20	30	40	50	60
MVRGRISRLS	VRDVRFPTSL	GGHGADAMHT	DPDYSAAYVV	IETDAEDGIK	GCGITFTLGK
70	80	90	100	110	120
GTEVVVCAVN	ALAHHVLNKD	LKDIVGDFRG	FYRQLTSDGQ	LRWIGPEKGV	VHLATAAVLN
130	140	150	160	170	180
AVWDLWAKQE	GKPVWKLLVD	MDPRMLVSCI	DFRYITDVLT	EEDALEILQK	GQIGKKEREK
190	200	210	220	230	240
QMLAQGYPAY	TTSCAWLGYS	DDTLKQLCAQ	ALKDGWTRFK	VKVGADLQDD	MRRCQIIRDM
250	260	270	280	290	300
IGPEKTLMMD	ANQRWDVPEA	VEWMSKLAKF	KPLWIEEPTS	PDDILGHATI	SKALVPLGIG
310	320	330	340	350	360
IATGEQCHNR	VIFKQLLQAK	ALQFLQIDSC	RLGSVNENLS	VLLMAKKFEI	PVCPHAGGVG
370	380	390	400	410	420
LCELVQHLII	FDYISVSASL	ENRVCEYVDH	LHEHFKYPVM	IQRASYMPPK	DPGYSTEMKE
430	440
ESVKKHQYPD	GEVWKKLLPA	QEN