AiPD: Autoinhibited Protein Database

Q5T013

Gene name	HYI (HT036, SB156)
Protein name	Putative hydroxypyruvate isomerase
Names	Endothelial cell apoptosis protein E-CE1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:81888
EC number	5.3.1.22: Interconverting aldoses and ketoses
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

37-106 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

37-106 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q5T013

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q5T013-F1	Predicted				AlphaFoldDB

362 variants for Q5T013

Variant ID(s)	Position	Change	Diseaes Association	Provenance
CA21633912 rs754502980	2	A>P	No	ClinGen ExAC TOPMed gnomAD
CA811656 rs754502980	2	A>S	No	ClinGen ExAC TOPMed gnomAD
CA21633909 rs964020791	3	P>L	No	ClinGen TOPMed
CA339986837 rs1164288135	3	P>S	No	ClinGen TOPMed
rs868685135 CA21633903	5	R>L	No	ClinGen Ensembl
rs779685163 CA339986683	8	A>D	No	ClinGen ExAC gnomAD
CA21633899 rs866699285	8	A>S	No	ClinGen gnomAD
CA21633897 rs866699285	8	A>T	No	ClinGen gnomAD
rs779685163 CA811654	8	A>V	No	ClinGen ExAC gnomAD
CA811653 rs757986927	9	N>H	No	ClinGen ExAC
rs1325311683 CA339986669	9	N>S	No	ClinGen TOPMed
CA339986632 rs1306506816	10	L>P	No	ClinGen gnomAD
CA21633879 rs901383791	11	S>C	No	ClinGen TOPMed gnomAD
CA21633882 rs901383791	11	S>F	No	ClinGen TOPMed gnomAD
rs1220236221 CA339986614	11	S>P	No	ClinGen gnomAD
rs1223975818 CA339986570	12	W>*	No	ClinGen gnomAD
rs1223975818 CA339986553 CA339986546	12	W>C	No	ClinGen gnomAD
CA339986578 rs1361249403	12	W>R	No	ClinGen TOPMed gnomAD
CA339986574 rs1570770530	12	W>S	No	ClinGen Ensembl
rs750289756 CA811652	13	L>P	No	ClinGen ExAC gnomAD
CA339986477 rs1354129277	14	F>L	No	ClinGen gnomAD
CA811650 rs761851771	14	F>L	No	ClinGen ExAC
rs1467496958 CA339986467	15	P>H	No	ClinGen gnomAD
CA339986472 rs1330050137	15	P>S	No	ClinGen gnomAD
CA811649 rs753698786	16	E>*	No	ClinGen ExAC gnomAD
CA21633867 rs940299786	16	E>D	No	ClinGen TOPMed gnomAD
CA339986437 rs1292104210	16	E>G	No	ClinGen TOPMed
CA339986444 rs753698786	16	E>K	No	ClinGen ExAC gnomAD
CA339986420 rs1008698980	17	L>F	No	ClinGen TOPMed gnomAD
CA21633863 rs1008698980	17	L>V	No	ClinGen TOPMed gnomAD
rs6692611 CA811648	18	S>P	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760871370 CA811647	18	S>Y	No	ClinGen ExAC
CA811643 rs774815458	19	G>D	No	ClinGen ExAC gnomAD
rs759823461 CA811644	19	G>S	No	ClinGen ExAC gnomAD
rs774815458 CA339986333	19	G>V	No	ClinGen ExAC gnomAD
rs749613590 CA811641	20	L>I	No	ClinGen ExAC gnomAD
rs1204249217 CA339986295	20	L>P	No	ClinGen gnomAD
CA811637 rs779525531	21	P>H	No	ClinGen ExAC TOPMed gnomAD
CA339986246 rs779525531	21	P>L	No	ClinGen ExAC TOPMed gnomAD
rs746535141 CA811639	21	P>S	No	ClinGen ExAC gnomAD
CA811638 rs746535141	21	P>T	No	ClinGen ExAC gnomAD
rs750012806 CA811636	22	A>E	No	ClinGen ExAC gnomAD
rs1372944814 CA339986225	22	A>S	No	ClinGen gnomAD
rs750012806 CA811635	22	A>V	No	ClinGen ExAC gnomAD
rs753631450 CA811633	23	R>L	No	ClinGen ExAC TOPMed gnomAD
rs753631450 CA811632	23	R>Q	No	ClinGen ExAC TOPMed gnomAD
rs1404397277 CA339986199	23	R>W	No	ClinGen gnomAD
rs767670555 CA811628	24	V>E	No	ClinGen ExAC
CA811629 rs752887439	24	V>L	No	ClinGen ExAC TOPMed gnomAD
CA811630 rs752887439	24	V>M	No	ClinGen ExAC TOPMed gnomAD
CA339986142 rs1026192328	25	R>L	No	ClinGen TOPMed gnomAD
rs1026192328 CA21633805	25	R>Q	No	ClinGen TOPMed gnomAD
rs774455434 CA811626	25	R>W	No	ClinGen ExAC gnomAD
CA811624 rs763230042	26	A>S	No	ClinGen ExAC gnomAD
CA339986124 rs763230042	26	A>T	No	ClinGen ExAC gnomAD
CA339986090 rs1442343981	26	A>V	No	ClinGen gnomAD
rs1484234225 CA339986064	27	A>E	No	ClinGen gnomAD
CA339986067 rs1204028693	27	A>S	No	ClinGen TOPMed gnomAD
rs1204028693 CA339986078	27	A>T	No	ClinGen TOPMed gnomAD
CA339986045 rs1214912669	28	G>C	No	ClinGen gnomAD
rs773566651 CA811623	28	G>D	No	ClinGen ExAC gnomAD
CA339986003 rs1242610355	29	S>I	No	ClinGen TOPMed gnomAD
rs1380823309 CA339985999	29	S>R	No	ClinGen gnomAD
CA339986004 rs1242610355	29	S>T	No	ClinGen TOPMed gnomAD
CA811622 rs770343251	30	S>L	No	ClinGen ExAC TOPMed gnomAD
rs1381728585 CA339985967	31	G>C	No	ClinGen gnomAD
CA21633777 rs867585712	31	G>V	No	ClinGen TOPMed gnomAD
rs771549328 CA21633753	33	E>D	No	ClinGen ExAC TOPMed gnomAD
rs112102534 CA21633769	33	E>G	No	ClinGen gnomAD
rs775021587 CA339985914	33	E>K	No	ClinGen ExAC TOPMed gnomAD
CA811620 rs775021587	33	E>Q	No	ClinGen ExAC TOPMed gnomAD
rs112102534 CA21633768	33	E>V	No	ClinGen gnomAD
rs527849809 CA811618	34	A>D	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1422408102 CA339985882	34	A>T	No	ClinGen TOPMed gnomAD
CA339985773 rs1168124417	38	A>T	No	ClinGen Ensembl
rs778463185 CA811616	38	A>V	No	ClinGen ExAC gnomAD
CA339985741 rs1264052648	39	W>*	No	ClinGen TOPMed gnomAD
rs1264052648 CA339985732	39	W>C	No	ClinGen TOPMed gnomAD
rs956621312 CA21633744	40	P>A	No	ClinGen gnomAD
CA21633743 rs1032682585	41	Y>C	No	ClinGen TOPMed gnomAD
CA339985697 rs1291339021	41	Y>N	No	ClinGen TOPMed gnomAD
CA339985652 rs1245713056	43	E>D	No	ClinGen TOPMed gnomAD
CA21633740 rs907038583	46	E>D	No	ClinGen TOPMed gnomAD
CA339985568 rs1570769740	46	E>K	No	ClinGen Ensembl
CA339985549 rs1334222109	47	A>T	No	ClinGen TOPMed
CA339985533 rs1341648574	47	A>V	No	ClinGen TOPMed gnomAD
rs1402539473 CA339985498	49	A>E	No	ClinGen gnomAD
CA339985500 rs1311944640	49	A>P	No	ClinGen TOPMed
rs1311944640 CA339985504	49	A>T	No	ClinGen TOPMed
CA339985473 rs1163483145	50	R>C	No	ClinGen gnomAD
CA339985461 rs1459084900	50	R>L	No	ClinGen TOPMed gnomAD
rs1459084900 CA339985469	50	R>P	No	ClinGen TOPMed gnomAD
CA21633734 rs901331159	51	A>G	No	ClinGen TOPMed gnomAD
rs997249942 CA339985454	51	A>P	No	ClinGen gnomAD
rs997249942 CA21633735	51	A>T	No	ClinGen gnomAD
rs901331159 CA339985430	51	A>V	No	ClinGen TOPMed gnomAD
rs1456631721 CA339985408	52	A>S	No	ClinGen TOPMed
CA339985375 rs1478128058	53	R>P	No	ClinGen gnomAD
CA339985356 rs1196005627	54	E>K	No	ClinGen gnomAD
CA339985310 rs1268224293	55	A>E	No	ClinGen gnomAD
CA21633723 rs749053928	55	A>P	No	ClinGen ExAC TOPMed gnomAD
rs749053928 CA811613	55	A>S	No	ClinGen ExAC TOPMed gnomAD
rs749053928 CA339985316	55	A>T	No	ClinGen ExAC TOPMed gnomAD
rs551641144 CA811611	56	G>E	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA339985239 rs1222145303	58	R>Q	No	ClinGen gnomAD
rs1280663889 CA339985244	58	R>W	No	ClinGen gnomAD
rs1388197039 CA339985182	60	V>A	No	ClinGen TOPMed gnomAD
CA339985183 rs1388197039	60	V>E	No	ClinGen TOPMed gnomAD
CA21633693 rs905223065	60	V>L	No	ClinGen TOPMed gnomAD
CA339985166 rs1393829167	61	L>P	No	ClinGen gnomAD
rs1465932367 CA339985136	62	I>F	No	ClinGen TOPMed gnomAD
rs1465932367 CA339985142	62	I>L	No	ClinGen TOPMed gnomAD
rs1425423192 CA339985089	64	T>A	No	ClinGen gnomAD
rs955607259 CA339985034	65	P>H	No	ClinGen TOPMed gnomAD
rs955607259 CA21633677	65	P>L	No	ClinGen TOPMed gnomAD
rs986904318 CA21633679	65	P>S	No	ClinGen TOPMed gnomAD
CA339984993 rs1199633195	66	P>L	No	ClinGen gnomAD
rs1199633195 CA339985002	66	P>R	No	ClinGen gnomAD
rs1190254154 CA339984825	67	G>E	No	ClinGen gnomAD
CA339984980 rs1248672718	67	G>R	No	ClinGen gnomAD
CA339984816 rs1445755309	68	D>A	No	ClinGen TOPMed gnomAD
CA339984822 rs1158447997	68	D>N	No	ClinGen TOPMed
rs369407159 CA339984784	69	Q>*	No	ClinGen ESP ExAC TOPMed gnomAD
rs369407159 CA811593	69	Q>E	No	ClinGen ESP ExAC TOPMed gnomAD
CA339984778 rs1216704174	69	Q>R	No	ClinGen gnomAD
CA21633570 rs905464006	70	E>D	No	ClinGen TOPMed
rs1045060861 CA21633562	71	K>*	No	ClinGen Ensembl
CA21633546 rs773859072	71	K>N	No	ClinGen ExAC gnomAD
rs1227318981 CA339984676	72	G>A	No	ClinGen TOPMed gnomAD
CA339984680 rs1227318981	72	G>E	No	ClinGen TOPMed gnomAD
rs371668641 CA21633532	73	E>K	No	ClinGen Ensembl
CA339984623 rs1428608586 CA339984614	74	M>I	No	ClinGen TOPMed gnomAD
CA339984628 rs1350581881	74	M>T	No	ClinGen TOPMed gnomAD
CA339984608 rs1325752965	75	G>R	No	ClinGen gnomAD
CA339984567 rs1297732980	77	G>R	No	ClinGen TOPMed gnomAD
CA21633507 rs866645901	79	V>F	No	ClinGen Ensembl
rs1415041872 CA339984386	80	P>L	No	ClinGen gnomAD
rs1404939086 CA339984404	80	P>S	No	ClinGen gnomAD
rs747888724 CA811586	81	G>E	No	ClinGen ExAC gnomAD
rs755989872 CA811587	81	G>R	No	ClinGen ExAC
rs747888724 CA339984377	81	G>V	No	ClinGen ExAC gnomAD
rs1035274867 CA21633491	82	R>K	No	ClinGen TOPMed gnomAD
CA339984312 rs1423521129	83	Q>*	No	ClinGen gnomAD
rs1238657612 CA339984292	83	Q>H	No	ClinGen TOPMed
rs781311591 CA811585	84	A>T	No	ClinGen ExAC TOPMed gnomAD
rs1002975255 CA21633488	84	A>V	No	ClinGen TOPMed
CA21633474 rs866325841	85	A>T	No	ClinGen gnomAD
CA21633464 rs906855183	85	A>V	No	ClinGen TOPMed gnomAD
rs1442003898 CA339984234	86	F>S	No	ClinGen TOPMed
CA339984227 rs1220399813	87	R>*	No	ClinGen gnomAD
CA339984222 rs1451796018	87	R>P	No	ClinGen TOPMed gnomAD
rs1451796018 CA339984224	87	R>Q	No	ClinGen TOPMed gnomAD
rs1212578801 CA339984197	88	E>G	No	ClinGen TOPMed gnomAD
CA811584 rs754897289	88	E>K	No	ClinGen ExAC gnomAD
rs1212578801 CA339984182	88	E>V	No	ClinGen TOPMed gnomAD
rs766452814 CA339984164	89	G>*	No	ClinGen ExAC gnomAD
rs766452814 CA811582	89	G>R	No	ClinGen ExAC gnomAD
rs572238649 CA811580	90	L>R	No	ClinGen 1000Genomes ExAC gnomAD
rs762168706 CA811578	92	Q>*	No	ClinGen ExAC gnomAD
rs762168706 CA339984082	92	Q>E	No	ClinGen ExAC gnomAD
rs1326014732 CA339984071	92	Q>H	No	ClinGen gnomAD
CA811577 rs776939158	92	Q>L	No	ClinGen ExAC gnomAD
CA339984079 rs776939158	92	Q>R	No	ClinGen ExAC gnomAD
CA811575 rs773770463	93	A>D	No	ClinGen ExAC TOPMed gnomAD
rs764529011 CA811576	93	A>T	No	ClinGen ExAC TOPMed gnomAD
CA811574 rs773770463	93	A>V	No	ClinGen ExAC TOPMed gnomAD
rs1570767864 CA339984020	94	V>G	No	ClinGen Ensembl
rs770465127 CA339984035	94	V>L	No	ClinGen ExAC TOPMed gnomAD
rs770465127 CA811573	94	V>M	No	ClinGen ExAC TOPMed gnomAD
rs762498837 CA21633415	95	R>L	No	ClinGen ExAC TOPMed gnomAD
CA339984006 rs762498837	95	R>P	No	ClinGen ExAC TOPMed gnomAD
rs762498837 CA811572	95	R>Q	No	ClinGen ExAC TOPMed gnomAD
CA21633426 rs867461845	95	R>W	No	ClinGen gnomAD
rs769534662 CA811570	96	Y>*	No	ClinGen ExAC gnomAD
CA811571 rs142369206	96	Y>C	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA339983981 rs1570767791	96	Y>D	No	ClinGen Ensembl
CA811567 rs137998671	99	A>S	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA811568 rs137998671	99	A>T	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1279885781 CA339983892	99	A>V	No	ClinGen TOPMed
rs1570767689 CA339983860	100	L>R	No	ClinGen Ensembl
rs141158872 RCV000514979 CA811564	101	G>D	No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1218706689 CA339983818	102	C>Y	No	ClinGen gnomAD
rs1368330571 CA339983778	104	R>G	No	ClinGen gnomAD
CA811494 rs777113542	104	R>S	No	ClinGen ExAC
rs144887059 CA811493	106	H>Y	No	ClinGen ESP ExAC TOPMed gnomAD
rs767095734 CA811491	108	M>T	No	ClinGen ExAC gnomAD
CA811490 rs759361776	111	R>*	No	ClinGen ExAC gnomAD
rs751310206 CA811489	111	R>Q	No	ClinGen ExAC TOPMed gnomAD
CA339981254 rs1261775539	112	V>A	No	ClinGen gnomAD
rs766355402 CA811488	112	V>I	No	ClinGen ExAC gnomAD
CA811487 rs762771794	113	P>S	No	ClinGen ExAC TOPMed gnomAD
rs376726368 CA811486	114	Q>H	No	ClinGen ExAC gnomAD
rs1570763454 CA339981204	114	Q>P	No	ClinGen Ensembl
CA811485 rs368838329	115	G>E	No	ClinGen ESP ExAC gnomAD
CA339981165 rs368838329	115	G>V	No	ClinGen ESP ExAC gnomAD
CA339981157 rs1366088759	116	A>T	No	ClinGen TOPMed
rs761894952 CA811484	118	R>*	No	ClinGen ExAC gnomAD
CA339981080 rs761894952	118	R>G	No	ClinGen ExAC gnomAD
CA339981077 rs776997759	118	R>P	No	ClinGen ExAC TOPMed gnomAD
CA811483 rs776997759	118	R>Q	No	ClinGen ExAC TOPMed gnomAD
rs768958588 CA811482	119	I>L	No	ClinGen ExAC gnomAD
CA811481 rs140591186	119	I>T	No	ClinGen ESP ExAC TOPMed gnomAD
CA21632442 rs978399173	120	A>G	No	ClinGen TOPMed
rs1327850051 CA339981045	121	V>L	No	ClinGen TOPMed
CA339981016 rs1347175933	122	K>N	No	ClinGen gnomAD
CA811479 rs772673754	125	M>I	No	ClinGen ExAC TOPMed gnomAD
CA339980951 rs1430934912	125	M>T	No	ClinGen TOPMed
CA811476 rs755588600	128	V>I	No	ClinGen ExAC TOPMed gnomAD
rs752132669 CA811475	129	F>L	No	ClinGen ExAC gnomAD
CA339980887 rs1416342192	129	F>V	No	ClinGen TOPMed gnomAD
rs780848933 CA811474	130	L>M	No	ClinGen ExAC gnomAD
CA339980748 rs1197633924	135	H>L	No	ClinGen gnomAD
CA339980750 rs1197633924	135	H>R	No	ClinGen gnomAD
rs149762020 CA811472	136	A>G	No	ClinGen ESP ExAC TOPMed gnomAD
CA21632388 rs950614254	137	A>P	No	ClinGen Ensembl
rs766084255 CA811470	139	V>I	No	ClinGen ExAC TOPMed gnomAD
CA21632384 rs1025072583	141	A>D	No	ClinGen TOPMed gnomAD
CA811438 rs771386248	143	E>G	No	ClinGen ExAC gnomAD
rs1570762176 CA339980245	144	D>A	No	ClinGen Ensembl
CA811437 rs749794002	145	L>F	No	ClinGen ExAC TOPMed gnomAD
CA339980183 rs1282751035	146	V>A	No	ClinGen gnomAD
CA21632081 rs768169677	146	V>L	No	ClinGen ExAC gnomAD
CA811435 rs768169677	146	V>M	No	ClinGen ExAC gnomAD
CA811434 rs746449583	147	G>R	No	ClinGen ExAC gnomAD
CA339980018 rs1226016563	151	P>T	No	ClinGen gnomAD
CA21632063 rs778184888	152	I>N	No	ClinGen Ensembl
rs1026124664 CA21632067	152	I>V	No	ClinGen Ensembl
CA811432 rs758019050	153	N>K	No	ClinGen ExAC gnomAD
rs1301812579 CA339979913	154	T>A	No	ClinGen gnomAD
rs1266082560 CA339979902	154	T>I	No	ClinGen TOPMed
rs372078126 CA811431	155	R>C	No	ClinGen ESP ExAC TOPMed gnomAD
CA339979878 rs372078126	155	R>G	No	ClinGen ESP ExAC TOPMed gnomAD
rs367869584 CA811430	155	R>H	No	ClinGen ESP ExAC TOPMed gnomAD
rs367869584 CA339979862	155	R>L	No	ClinGen ESP ExAC TOPMed gnomAD
rs367869584 CA339979864	155	R>P	No	ClinGen ESP ExAC TOPMed gnomAD
CA21632059 rs1012585246	156	I>V	No	ClinGen Ensembl
CA811428 rs753810387	159	P>T	No	ClinGen ExAC TOPMed gnomAD
CA339979757 rs1161016781	160	Q>P	No	ClinGen gnomAD
rs889257441 CA21632030	161	Y>D	No	ClinGen TOPMed
rs756262714 CA811426	162	F>V	No	ClinGen ExAC gnomAD
rs1277853494 CA339979681	164	D>G	No	ClinGen TOPMed
rs373445250 CA811424	164	D>N	No	ClinGen ExAC TOPMed gnomAD
rs373445250 CA811423	164	D>Y	No	ClinGen ExAC TOPMed gnomAD
rs201885225 CA811422	165	T>M	No	ClinGen ESP ExAC TOPMed gnomAD
CA339979650 rs1252806480	166	P>L	No	ClinGen TOPMed
CA339979623 rs1221571115	168	Q>*	No	ClinGen TOPMed
rs201415941 CA811400	169	A>V	No	ClinGen ESP ExAC TOPMed gnomAD
rs555956271 CA811397	170	A>G	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA811398 rs370026446	170	A>T	No	ClinGen ESP ExAC TOPMed gnomAD
rs1570761413 CA339979522	171	A>G	No	ClinGen Ensembl
rs774930343 CA811396	172	I>N	No	ClinGen ExAC gnomAD
CA811395 rs771597310	174	Q>*	No	ClinGen ExAC TOPMed gnomAD
rs1384670640 CA522807083	174	Q>L	No	ClinGen gnomAD
CA339979480 rs1181757716	174	Q>R	No	ClinGen gnomAD
rs1326294635 CA339979465	175	K>M	No	ClinGen gnomAD
CA339979435 rs1398005746	177	G>E	No	ClinGen gnomAD
rs758908757 CA811394	178	R>G	No	ClinGen ExAC gnomAD
rs1373677523 CA339979427	178	R>K	No	ClinGen gnomAD
rs58131089 CA21631822	183	L>I	No	ClinGen Ensembl
rs755253356 CA811392	183	L>S	No	ClinGen ExAC TOPMed gnomAD
CA339979330 rs1261976315	184	Q>P	No	ClinGen TOPMed
CA811390 rs142648563	185	M>I	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA811391 rs749114822	185	M>V	No	ClinGen ExAC gnomAD
rs1334449278 CA339979193	186	D>E	No	ClinGen TOPMed
rs1408109888 CA339979170	188	F>L	No	ClinGen TOPMed
rs779049091 CA811361	190	W>*	No	ClinGen ExAC gnomAD
CA811360 rs757642733	192	I>L	No	ClinGen ExAC gnomAD
rs767403977 CA21631600	193	M>T	No	ClinGen TOPMed gnomAD
CA21631595 rs1011068993	196	N>D	No	ClinGen Ensembl
rs764681130 CA811358	196	N>K	No	ClinGen ExAC gnomAD
rs756553934 CA811357	198	T>K	No	ClinGen ExAC gnomAD
CA339978919 rs1366069515	198	T>P	No	ClinGen gnomAD
CA811356 rs751184895	200	N>S	No	ClinGen ExAC TOPMed gnomAD
rs1194274165 CA339978870	201	I>S	No	ClinGen gnomAD
CA811355 rs145419603	201	I>V	No	ClinGen ESP ExAC TOPMed gnomAD
rs773007194 CA339978850	202	R>L	No	ClinGen ExAC gnomAD
CA811353 rs773007194	202	R>Q	No	ClinGen ExAC gnomAD
CA811354 rs189883688	202	R>W	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1283369821 CA339978830	203	E>V	No	ClinGen gnomAD
CA339978786 rs1263647717	206	P>T	No	ClinGen gnomAD
CA811350 rs776270340	207	I>T	No	ClinGen ExAC
rs746943963 CA811349	208	V>D	No	ClinGen ExAC TOPMed gnomAD
rs746943963 CA811348	208	V>G	No	ClinGen ExAC TOPMed gnomAD
rs1468709956 CA339978589	210	H>Q	No	ClinGen gnomAD
CA811322 rs774269509	211	V>M	No	ClinGen ExAC TOPMed gnomAD
CA339978565 rs1436176772	212	Q>*	No	ClinGen gnomAD
CA339978566 rs1436176772	212	Q>E	No	ClinGen gnomAD
CA811320 rs749461654	213	V>M	No	ClinGen ExAC gnomAD
rs1341731833 CA339978484	214	A>E	No	ClinGen gnomAD
CA339978454 rs1475178566	215	Q>H	No	ClinGen TOPMed
rs1557613695 CA339978412	218	G>A	No	ClinGen Ensembl
rs777995681 CA811319	218	G>S	No	ClinGen ExAC gnomAD
rs770291655 CA811318	219	R>*	No	ClinGen ExAC TOPMed gnomAD
rs781770402 CA811317	219	R>L	No	ClinGen ExAC TOPMed gnomAD
CA811316 rs781770402	219	R>Q	No	ClinGen ExAC TOPMed gnomAD
rs755520098 CA811315	222	P>H	No	ClinGen ExAC gnomAD
rs778283341 CA339978292	225	P>A	No	ClinGen ExAC gnomAD
CA811313 rs778283341	225	P>S	No	ClinGen ExAC gnomAD
CA811310 rs1553157766	226	G>R	No	ClinGen Ensembl
rs1369650991 CA339978230	228	L>M	No	ClinGen TOPMed gnomAD
CA339978223 rs1304389790	228	L>P	No	ClinGen TOPMed
rs1172561688 CA339978205	229	N>S	No	ClinGen gnomAD
CA811308 rs753444112	231	P>T	No	ClinGen ExAC gnomAD
rs1176756400 CA339978155	232	Y>H	No	ClinGen gnomAD
rs959914487 CA21631294	233	L>P	No	ClinGen gnomAD
rs959914487 CA339978130	233	L>Q	No	ClinGen gnomAD
rs1205292327 CA339978095	234	F>C	No	ClinGen gnomAD
CA811305 rs752437218	235	Q>*	No	ClinGen ExAC gnomAD
CA811304 rs375777528	235	Q>H	No	ClinGen ESP ExAC gnomAD
CA339978017 rs759435585	238	E>*	No	ClinGen ExAC gnomAD
CA811303 rs759435585	238	E>K	No	ClinGen ExAC gnomAD
VAR_032611 CA21631292 rs17850049	239	D>N	No	ClinGen UniProt Ensembl dbSNP
rs370109141 CA21631284	240	E>*	No	ClinGen ESP
CA811301 rs770932595	240	E>G	No	ClinGen ExAC gnomAD
rs575345409 CA811300	241	G>D	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1373224900 CA339977858	243	K>R	No	ClinGen gnomAD
rs773341483 CA811299	244	G>A	No	ClinGen ExAC TOPMed gnomAD
CA339977810 rs773341483	244	G>D	No	ClinGen ExAC TOPMed gnomAD
CA339977771 rs1311920915	246	V>A	No	ClinGen gnomAD
rs369824095 CA811298	246	V>L	No	ClinGen ESP ExAC TOPMed gnomAD
rs369824095 CA811297	246	V>M	No	ClinGen ESP ExAC TOPMed gnomAD
CA811293 rs765771627	248	C>*	No	ClinGen ExAC gnomAD
rs769354986 CA811295	248	C>R	No	ClinGen ExAC gnomAD
CA811294 rs79439514 RCV000964811	248	C>S	No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs79439514 CA339977740	248	C>Y	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1418492030 CA339977682	249	E>K	No	ClinGen gnomAD
CA339977703 rs1418492030	249	E>Q	No	ClinGen gnomAD
rs147961236 CA811291	250	Y>D	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147961236 CA811292	250	Y>H	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs573479000 CA811289	252	P>L	No	ClinGen 1000Genomes ExAC gnomAD
rs777421985 CA811288	253	R>*	No	ClinGen ExAC TOPMed gnomAD
rs777421985 CA339977543	253	R>G	No	ClinGen ExAC TOPMed gnomAD
rs117454252 CA811287	253	R>P	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs117454252 CA811286	253	R>Q	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA811258 rs750597954	254	G>E	No	ClinGen ExAC gnomAD
rs200283548 CA21630880	256	T>R	No	ClinGen Ensembl
rs765396596 CA339975862	257	V>A	No	ClinGen ExAC TOPMed gnomAD
rs765396596 CA811257	257	V>G	No	ClinGen ExAC TOPMed gnomAD
CA339975867 rs1404450794	257	V>I	No	ClinGen TOPMed
CA811256 rs761928607	259	G>D	No	ClinGen ExAC
rs371135976 CA21630876	259	G>S	No	ClinGen ESP
CA811254 rs371015864	263	L>V	No	ClinGen ExAC TOPMed gnomAD
CA811253 rs556218372	264	R>C	No	ClinGen ExAC TOPMed gnomAD
rs368593287 CA811252	264	R>H	No	ClinGen ExAC TOPMed gnomAD
rs1231809578 CA339975747	265	S>P	No	ClinGen gnomAD
CA811248 rs769300467	266	Y>*	No	ClinGen ExAC gnomAD
CA811250 rs746379329	266	Y>H	No	ClinGen ExAC gnomAD
rs747620571 CA811247	267	W>*	No	ClinGen ExAC gnomAD
CA339975701 rs1393023687	267	W>R	No	ClinGen gnomAD
rs62620015 CA811245 RCV000515007	268	D>E	No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA21630826 rs1052485033	268	D>G	No	ClinGen Ensembl
rs746820056 CA811243	270	R>Q	No	ClinGen ExAC TOPMed gnomAD
CA811244 rs142109071	270	R>W	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs537137556 CA339975604	271	G>A	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs554123091 CA811242	271	G>S	No	ClinGen ExAC TOPMed gnomAD
CA811241 rs537137556	271	G>V	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA811239 rs765198290	272	H>P	No	ClinGen ExAC gnomAD
CA21630795 rs1023819609	272	H>Q	No	ClinGen TOPMed
rs750401439 CA811240	272	H>Y	No	ClinGen ExAC gnomAD
rs1252730837 CA339975522	275	A>V	No	ClinGen gnomAD
CA21630789 rs896326423	276	G>D	No	ClinGen TOPMed gnomAD
rs896326423 CA339975507	276	G>V	No	ClinGen TOPMed gnomAD

No associated diseases with Q5T013

1 regional properties for Q5T013

Type	Name	Position	InterPro Accession
domain	Xylose isomerase-like, TIM barrel domain	25 - 265	IPR013022

Functions

		Description
EC Number	5.3.1.22	Interconverting aldoses and ketoses
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

No GO annotations of cellular component

Name	Definition
No GO annotations for cellular component

1 GO annotations of molecular function

Name	Definition
hydroxypyruvate isomerase activity	Catalysis of the reaction: 3-hydroxypyruvate = 2-hydroxy-3-oxopropanoate.

1 GO annotations of biological process

Name	Definition
glyoxylate metabolic process	The chemical reactions and pathways involving glyoxylate, the anion of glyoxylic acid, HOC-COOH.

No homologous proteins in AiPD

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

10	20	30	40	50	60
MAPLRFSANL	SWLFPELSGL	PARVRAAGSS	GFEAVEVAWP	YAETPEALAR	AAREAGLRLV
70	80	90	100	110	120
LINTPPGDQE	KGEMGLGAVP	GRQAAFREGL	EQAVRYAKAL	GCPRIHLMAG	RVPQGADRIA
130	140	150	160	170	180
VKAEMEAVFL	ENLRHAAGVL	AQEDLVGLLE	PINTRITDPQ	YFLDTPQQAA	AILQKVGRPN
190	200	210	220	230	240
LQLQMDIFHW	QIMDGNLTGN	IREFLPIVGH	VQVAQVPGRG	EPSSPGELNF	PYLFQLLEDE
250	260	270
GYKGFVGCEY	QPRGDTVEGL	SWLRSYWDRR	GHPEAGQ