AiPD: Autoinhibited Protein Database

Q9H300

Gene name	PARL (PSARL, PRO2207)
Protein name	Presenilins-associated rhomboid-like protein, mitochondrial
Names	Mitochondrial intramembrane cleaving protease PARL
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55486
EC number	3.4.21.105: Serine endopeptidases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

31-104 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

31-104 (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 Q9H300

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9H300-F1	Predicted				AlphaFoldDB

334 variants for Q9H300

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA2723707 rs201425309	2	A>E		No	ClinGen ExAC TOPMed gnomAD
rs201425309 CA2723706	2	A>V		No	ClinGen ExAC TOPMed gnomAD
rs770558265 CA2723704	3	W>R		No	ClinGen ExAC TOPMed gnomAD
rs553632116 CA88796732	3	W>S		No	ClinGen 1000Genomes TOPMed gnomAD
CA2723703 rs748977455	4	R>*		No	ClinGen ExAC gnomAD
rs748977455 CA355363737	4	R>G		No	ClinGen ExAC gnomAD
CA355363715 rs1227184865	5	G>C		No	ClinGen TOPMed
rs1227184865 CA355363718	5	G>R		No	ClinGen TOPMed
CA2723700 rs752167707	6	W>*		No	ClinGen ExAC TOPMed gnomAD
rs755675651 CA2723701	6	W>G		No	ClinGen ExAC TOPMed gnomAD
CA2723702 rs755675651	6	W>R		No	ClinGen ExAC TOPMed gnomAD
rs755462745 CA355363652	7	A>G		No	ClinGen ExAC TOPMed gnomAD
CA2723699 rs781697331	7	A>P		No	ClinGen ExAC gnomAD
rs781697331 CA355363660	7	A>S		No	ClinGen ExAC gnomAD
CA355363665 rs781697331	7	A>T		No	ClinGen ExAC gnomAD
rs755462745 CA2723698	7	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1250304121 CA355363621	8	Q>H		No	ClinGen Ensembl
rs1468966347 CA355363629	8	Q>R		No	ClinGen Ensembl
rs1465150469 CA355363614	9	R>G		No	ClinGen TOPMed
rs142691329 CA2723697	10	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763167412 CA355363561	11	W>G		No	ClinGen ExAC gnomAD
CA2723695 rs763167412	11	W>R		No	ClinGen ExAC gnomAD
CA88796657 rs571143026	11	W>S		No	ClinGen 1000Genomes
CA355363537 rs1472547687	12	G>A		No	ClinGen TOPMed
rs1472547687 CA355363539	12	G>D		No	ClinGen TOPMed
rs1427219358 CA355363542	12	G>S		No	ClinGen gnomAD
rs1331168865 CA355363486	15	Q>R		No	ClinGen TOPMed gnomAD
CA88796634 rs750680443	16	A>E		No	ClinGen ExAC gnomAD
CA355363474 rs1217410843	16	A>T		No	ClinGen TOPMed gnomAD
rs750680443 CA2723692	16	A>V		No	ClinGen ExAC gnomAD
CA2723690 rs762024775	17	W>C		No	ClinGen ExAC gnomAD
rs765336455 CA2723691	17	W>R		No	ClinGen ExAC gnomAD
rs549528335 CA2723689	18	G>D		No	ClinGen 1000Genomes ExAC gnomAD
CA88796620 rs11711050	18	G>S		No	ClinGen TOPMed
CA88796606 rs1049202600	19	A>T		No	ClinGen Ensembl
CA2723688 rs767621927	20	S>*		No	ClinGen ExAC gnomAD
rs1407536197 CA355363450	20	S>P		No	ClinGen gnomAD
rs1278456130 CA355363442	21	V>A		No	ClinGen TOPMed gnomAD
rs1278456130 CA355363441	21	V>G		No	ClinGen TOPMed gnomAD
CA2723687 rs759542506	22	G>D		No	ClinGen ExAC gnomAD
CA88796603 rs954929944	22	G>S		No	ClinGen TOPMed gnomAD
rs770775624 CA2723685	23	G>D		No	ClinGen ExAC gnomAD
rs772952955 CA2723683	27	E>D		No	ClinGen ExAC gnomAD
CA88796593 rs900405861	28	E>K		No	ClinGen gnomAD
CA355363402 rs900405861	28	E>Q		No	ClinGen gnomAD
rs1220596596 CA355363393	29	L>F		No	ClinGen gnomAD
rs537767723 CA2723682	31	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA355363374 rs1276323191	32	V>A		No	ClinGen gnomAD
CA355363377 rs1284256952	32	V>L		No	ClinGen TOPMed
CA2723680 rs780673335	34	T>P		No	ClinGen ExAC gnomAD
CA355363364 rs1289309851	34	T>S		No	ClinGen TOPMed gnomAD
CA2723678 rs747526735	35	P>A		No	ClinGen ExAC TOPMed gnomAD
CA355363359 rs1316582113	35	P>R		No	ClinGen gnomAD
CA355363361 rs747526735	35	P>S		No	ClinGen ExAC TOPMed gnomAD
CA355363356 rs1329605298	36	P>A		No	ClinGen TOPMed
rs758823049 CA2723676	39	L>F		No	ClinGen ExAC gnomAD
CA2723675 rs567175130 CA88796535	40	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2723674 rs368236493	41	R>L		No	ClinGen ESP ExAC gnomAD
rs1375686125 CA355362236	43	F>I		No	ClinGen gnomAD
rs754128465 CA2723653	44	N>D		No	ClinGen ExAC TOPMed gnomAD
rs1194564257 CA355362214	45	F>L		No	ClinGen gnomAD
rs1461514186 CA355362218	45	F>Y		No	ClinGen gnomAD
rs764366463 CA2723651	47	I>F		No	ClinGen ExAC gnomAD
rs756297359 CA2723650	47	I>S		No	ClinGen ExAC gnomAD
rs756297359 CA355362202	47	I>T		No	ClinGen ExAC gnomAD
CA355362199 rs1417590154	48	Q>*		No	ClinGen gnomAD
CA355362198 rs1417590154	48	Q>K		No	ClinGen gnomAD
rs770161690 CA88783578	48	Q>L		No	ClinGen TOPMed
CA88783570 rs915522744	49	Q>*		No	ClinGen Ensembl
rs766393660 CA2723648	51	C>W		No	ClinGen ExAC TOPMed gnomAD
CA2723646 rs186520005	52	G>E		No	ClinGen 1000Genomes ExAC gnomAD
rs200426931 CA2723647	52	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs2017023 CA88783554	54	R>K		No	ClinGen Ensembl
CA2723644 rs138755793	56	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768265570 CA2723642	57	P>R		No	ClinGen ExAC TOPMed gnomAD
CA2723641 rs760280352	58	R>G		No	ClinGen ExAC TOPMed gnomAD
rs772702781 CA2723640	58	R>K		No	ClinGen ExAC gnomAD
rs772702781 CA2723639	58	R>T		No	ClinGen ExAC gnomAD
CA88783528 rs938403381	59	K>R		No	ClinGen TOPMed
rs544036700 CA88783520	62	P>A		No	ClinGen 1000Genomes TOPMed
rs544036700 CA355362109	62	P>S		No	ClinGen 1000Genomes TOPMed
rs529091335 CA2723636	63	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs529091335 CA2723637	63	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749633030 CA2723635	63	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA355362092 rs756273693	65	S>*		No	ClinGen ExAC TOPMed gnomAD
CA2723633 rs756273693	65	S>L		No	ClinGen ExAC TOPMed gnomAD
rs969266108 CA88783466	68	G>R		No	ClinGen TOPMed
CA355362069 rs1455630146	69	T>R		No	ClinGen gnomAD
CA2723632 rs145847502	70	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355362064 rs1157841881	70	S>N		No	ClinGen gnomAD
rs1338710974 CA355362057	71	G>C		No	ClinGen gnomAD
CA355362042 rs1416850975	73	A>G		No	ClinGen TOPMed gnomAD
rs1467997583 CA355362037	74	Y>C		No	ClinGen gnomAD
rs781133953 CA2723631	74	Y>H		No	ClinGen ExAC gnomAD
rs1251018159 CA355362032	75	K>Q		No	ClinGen gnomAD
CA355362028 rs1210361102	75	K>R		No	ClinGen gnomAD
CA2723630 rs755025112	76	R>T		No	ClinGen ExAC TOPMed gnomAD
RCV000202343 CA248581 rs571537271	77	S>N		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs762387039 CA88783448	80	I>V		No	ClinGen TOPMed
CA2723628 rs761635022	81	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1305688689 CA355361985	82	P>S		No	ClinGen gnomAD
rs1219997430 CA355361976	83	V>G		No	ClinGen gnomAD
CA88783447 rs2017034	85	E>K		No	ClinGen Ensembl
CA355361954 rs1332042334	86	T>A		No	ClinGen gnomAD
CA88783433 rs1026891596	88	F>L		No	ClinGen Ensembl
CA2723624 rs775142790	89	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs1331941375 CA355361900	90	P>A		No	ClinGen TOPMed
rs371467595 CA2723623	90	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1040830827 CA88783426	92	P>L		No	ClinGen gnomAD
rs138041432 CA2723621	92	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs771536687 CA2723620	93	Y>*		No	ClinGen ExAC gnomAD
rs1453199509 CA355361860	93	Y>C		No	ClinGen gnomAD
CA88783404 rs890576173	94	P>L		No	ClinGen gnomAD
CA88783397 rs369205896	95	I>M		No	ClinGen ESP
CA2723619 rs749724696	95	I>V		No	ClinGen ExAC gnomAD
CA2723618 rs778273972	97	S>N		No	ClinGen ExAC TOPMed gnomAD
CA355361800 rs1485027203	99	I>R		No	ClinGen gnomAD
rs1211686892 CA355361793	100	K>I		No	ClinGen gnomAD
CA355361768 rs1317365025	104	F>L		No	ClinGen TOPMed
CA88783380 rs374970060	105	T>I		No	ClinGen ESP TOPMed gnomAD
rs774807762 CA88783375	106	V>A		No	ClinGen Ensembl
rs755042318 CA2723614	106	V>L		No	ClinGen ExAC gnomAD
rs189325302 CA2723592	109	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs755894873 CA355361718	110	G>A		No	ClinGen ExAC
rs755894873 CA2723591	110	G>D		No	ClinGen ExAC
CA88782633 rs951408836	111	C>Y		No	ClinGen Ensembl
CA2723589 rs767127998	113	F>L		No	ClinGen ExAC gnomAD
rs754667930 CA2723588	114	G>E		No	ClinGen ExAC gnomAD
CA88782612 rs752610316	117	A>S		No	ClinGen gnomAD
CA355361679 rs752610316	117	A>T		No	ClinGen gnomAD
CA88782603 rs766999084	117	A>V		No	ClinGen Ensembl
CA88782593 rs1025888297	118	I>V		No	ClinGen TOPMed
CA355361648 rs1577363645	121	Y>C		No	ClinGen Ensembl
rs267599707 CA88782588	126	S>F		No	ClinGen Ensembl
CA2723584 rs762500920	127	R>G		No	ClinGen ExAC gnomAD
CA355361611 rs1199017415	127	R>K		No	ClinGen Ensembl
CA355361608 rs1337462504	127	R>S		No	ClinGen gnomAD
rs1577363567 CA355361594	129	Q>H		No	ClinGen Ensembl
rs1274178054 CA355361590	130	S>C		No	ClinGen gnomAD
rs1353855240 CA355361543	133	D>E		No	ClinGen gnomAD
rs1233006618 CA355361549	133	D>G		No	ClinGen TOPMed gnomAD
rs773884513 CA2723583	134	G>D		No	ClinGen ExAC gnomAD
rs1334643265 CA355361519	135	I>M		No	ClinGen gnomAD
COSM1633013 CA2723582 rs765742175	135	I>V	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1326850102 CA355361511	136	K>T		No	ClinGen gnomAD
CA88782566 VAR_029801 rs4912470	137	A>G		No	ClinGen UniProt Ensembl dbSNP
CA355361482 rs1287030312	138	D>G		No	ClinGen Ensembl
rs1481111860 CA355361487	138	D>Y		No	ClinGen TOPMed
rs777040707 CA2723580	139	W>*		No	ClinGen ExAC gnomAD
rs762132504 CA2723581	139	W>G		No	ClinGen ExAC gnomAD
CA355361438 rs1459618392	141	D>G		No	ClinGen gnomAD
CA2723579 rs768827205	142	S>G		No	ClinGen ExAC TOPMed gnomAD
CA2723578 rs35450106 CA2723577	143	I>L		No	ClinGen ExAC TOPMed gnomAD
CA2723576 rs772162613	143	I>M		No	ClinGen ExAC
rs1470239858 CA355361376	146	Q>E		No	ClinGen gnomAD
rs368433297 CA2723572	147	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA2723571 rs781040649	148	E>G		No	ClinGen ExAC TOPMed gnomAD
rs376653201 CA2723569	150	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA2723567 rs140419737	151	F>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2723568 rs140419737	151	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs966381768 CA88780031	156	N>Y		No	ClinGen Ensembl
CA2723539 rs760277840	157	K>R		No	ClinGen ExAC TOPMed gnomAD
rs760277840 CA355360927	157	K>T		No	ClinGen ExAC TOPMed gnomAD
CA2723536 rs759375419 CA2723537	158	W>R		No	ClinGen ExAC TOPMed gnomAD
rs1234244379 CA355360871	164	D>E		No	ClinGen TOPMed
rs1334637635 CA355360877	164	D>H		No	ClinGen TOPMed
CA355360861 rs1560412588	166	Q>R		No	ClinGen Ensembl
rs768880973 CA2723531	167	R>P		No	ClinGen ExAC TOPMed gnomAD
rs768880973 CA2723530	167	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2723533 rs762841882 COSM1421233	167	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA355360853 rs1213785346	168	T>A		No	ClinGen gnomAD
CA355360845 rs1416817957	169	V>A		No	ClinGen TOPMed gnomAD
rs780428566 CA2723528	169	V>M		No	ClinGen ExAC gnomAD
CA355360189 rs766122682	171	G>A		No	ClinGen ExAC TOPMed gnomAD
CA2723515 rs766122682	171	G>D		No	ClinGen ExAC TOPMed gnomAD
CA2723516 rs766122682	171	G>V		No	ClinGen ExAC TOPMed gnomAD
rs762900806 CA2723514	172	I>V		No	ClinGen ExAC gnomAD
CA2723513 rs375322471	173	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA88827233 rs375974796	173	I>V		No	ClinGen gnomAD
rs764203355 CA2723512	174	A>S		No	ClinGen ExAC TOPMed gnomAD
CA355360170 rs764203355	174	A>T		No	ClinGen ExAC TOPMed gnomAD
CA355360153 rs1420422308	176	N>Y		No	ClinGen gnomAD
rs775771406 CA2723509	177	V>I		No	ClinGen ExAC
CA2723508 rs772314924	178	L>H		No	ClinGen ExAC gnomAD
CA2723507 rs746115321	179	V>I		No	ClinGen ExAC gnomAD
CA355360069 rs1254771692	184	R>I		No	ClinGen gnomAD
rs1198778343 CA355360058	185	V>L		No	ClinGen TOPMed
CA355360049 rs1467819039	186	P>L		No	ClinGen gnomAD
CA2723505 rs771220658	186	P>S		No	ClinGen ExAC gnomAD
CA2723504 rs567158760	190	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs567158760 CA2723503	190	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA88827187 rs987004428	190	R>W		No	ClinGen TOPMed gnomAD
rs1252297667 CA355360007	191	T>A		No	ClinGen gnomAD
rs756677173 CA2723502	192	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1239471625 CA355359986	193	I>V		No	ClinGen gnomAD
CA355359973 rs1375337279	194	R>T		No	ClinGen gnomAD
CA355359933 rs1442177714	197	T>I		No	ClinGen TOPMed gnomAD
rs747639206 CA2723500 COSM1421232	198	S>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA88827123 rs973786882	200	P>L		No	ClinGen TOPMed gnomAD
CA355359903 rs973786882	200	P>R		No	ClinGen TOPMed gnomAD
CA355359883 rs1281445729	202	S>L		No	ClinGen TOPMed gnomAD
rs1353910916 CA355359878	203	K>*		No	ClinGen gnomAD
rs768066980 CA88826021	203	K>N		No	ClinGen ExAC TOPMed gnomAD
CA355359863 rs1175836760	203	K>R		No	ClinGen TOPMed
rs1254703147 CA355359843	206	C>F		No	ClinGen gnomAD
CA355359833 rs943130201	208	P>A		No	ClinGen TOPMed gnomAD
CA88826009 rs943130201	208	P>S		No	ClinGen TOPMed gnomAD
CA2723474 rs151220251	209	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA88826000 rs200440775	211	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA355359803 rs1280008149	213	T>A		No	ClinGen TOPMed
rs1356923946 CA355359791	214	F>L		No	ClinGen gnomAD
CA88825982 rs571104101	216	H>L		No	ClinGen 1000Genomes
rs1312993353 CA355359780	216	H>Y		No	ClinGen gnomAD
rs767573397 CA2723469	222	M>L		No	ClinGen ExAC TOPMed gnomAD
rs767573397 CA2723468	222	M>V		No	ClinGen ExAC TOPMed gnomAD
rs536646854 CA2723467	223	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs141197365 CA2723466	224	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1041835 CA2723465 rs766493456	225	N>H	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA355359719 rs1182996789	225	N>T		No	ClinGen TOPMed
rs773530392 CA2723463	226	M>I		No	ClinGen ExAC gnomAD
CA2723464 rs763207188	226	M>T		No	ClinGen ExAC gnomAD
CA88825932 rs972362245	227	Y>C		No	ClinGen TOPMed gnomAD
CA2723462 rs770169786	230	W>R		No	ClinGen ExAC gnomAD
CA2723461 rs762252790	233	S>F		No	ClinGen ExAC gnomAD
rs1430040603 CA355359640	236	I>T		No	ClinGen TOPMed
CA355359623 rs1577303151	239	I>L		No	ClinGen Ensembl
CA2723458 rs746488730	246	M>I		No	ClinGen ExAC TOPMed gnomAD
rs769274144 CA2723459	246	M>T		No	ClinGen ExAC TOPMed gnomAD
rs909222615 CA88825917	246	M>V		No	ClinGen TOPMed gnomAD
rs779663958 CA88825914	247	A>G		No	ClinGen ExAC TOPMed gnomAD
rs779663958 CA2723457	247	A>V		No	ClinGen ExAC TOPMed gnomAD
CA88825909 rs927315431	248	V>A		No	ClinGen TOPMed gnomAD
CA355359549 rs1330863947	250	L>V		No	ClinGen gnomAD
rs565288393 CA2723431	253	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs868194931 CA88824579	254	V>F		No	ClinGen Ensembl
CA355359509 rs1247638651	255	I>V		No	ClinGen gnomAD
CA355359493 rs1198534684	257	N>S		No	ClinGen gnomAD
rs3732581 CA2723429 VAR_021578	262	V>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs3732581 CA2723430	262	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1378379833 CA355359455	263	G>S		No	ClinGen TOPMed
CA2723428 rs750572027	264	K>R		No	ClinGen ExAC gnomAD
CA2723426 rs757524844	265	V>I		No	ClinGen ExAC gnomAD
rs866095431 CA88824545	266	A>V		No	ClinGen Ensembl
CA2723425 rs145814962	267	T>I		No	ClinGen ESP ExAC gnomAD
rs764549274 CA2723424	272	P>S		No	ClinGen ExAC gnomAD
rs1314211736 CA355359387	274	L>F		No	ClinGen TOPMed
CA355359372 rs1320521588	276	A>V		No	ClinGen gnomAD
rs896967796 CA88817979	277	S>C		No	ClinGen Ensembl
rs1360262135 CA355359330	280	I>V		No	ClinGen gnomAD
rs1176455771 CA355359312	281	M>T		No	ClinGen gnomAD
CA2723403 rs764308171	282	T>A		No	ClinGen ExAC gnomAD
CA88817945 rs756622023	283	V>A		No	ClinGen Ensembl
CA355359272 rs1171010055	285	A>T		No	ClinGen TOPMed gnomAD
rs768121174 CA2723400	287	V>L		No	ClinGen ExAC gnomAD
CA2723398 rs751078630	288	C>S		No	ClinGen ExAC gnomAD
rs1449050930 CA355359224	289	T>I		No	ClinGen TOPMed
CA355359220 rs1483284179	290	K>E		No	ClinGen gnomAD
rs1169436451 CA355359200	291	I>M		No	ClinGen TOPMed
CA355359191 rs766014244	292	P>L		No	ClinGen ExAC TOPMed gnomAD
rs766014244 CA2723397	292	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA355359168 rs1439398352	295	R>G		No	ClinGen gnomAD
CA355359159 rs1258496604	296	L>F		No	ClinGen gnomAD
rs1217742329 CA355359158	296	L>R		No	ClinGen gnomAD
CA2723395 rs554169588	297	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355359155 rs1185494527	297	A>T		No	ClinGen gnomAD
CA355359149 rs1276472002	298	I>V		No	ClinGen gnomAD
CA2723394 rs769401674	299	I>V		No	ClinGen ExAC TOPMed gnomAD
CA88817902 rs868569921 COSM3714413	301	L>F	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1349160332 CA355359119	302	P>L		No	ClinGen TOPMed
rs1284164832 CA355359116	303	M>L		No	ClinGen gnomAD
rs1446430741 CA355359115	303	M>T		No	ClinGen gnomAD
CA2723391 rs201515672	305	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1397747056 CA355359096	306	F>I		No	ClinGen TOPMed gnomAD
CA355359093 rs1343947424	306	F>Y		No	ClinGen TOPMed
rs965446860 CA88817853	308	A>V		No	ClinGen TOPMed gnomAD
rs372570804 CA2723388	309	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA355359077 rs1179563654	309	G>R		No	ClinGen gnomAD
rs1238638750 CA355359068	310	N>S		No	ClinGen gnomAD
CA2723371 rs775410403	313	K>N		No	ClinGen ExAC TOPMed gnomAD
rs771968647 CA2723370	315	I>V		No	ClinGen ExAC TOPMed gnomAD
rs777761061 CA2723368 COSM208998	317	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs770023632 CA2723367	318	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1238307563 CA355358994	320	T>A		No	ClinGen TOPMed
rs755402636 CA2723364	323	M>I		No	ClinGen ExAC gnomAD
CA2723365 rs781645770	323	M>T		No	ClinGen ExAC gnomAD
CA2723363 rs752041334	326	G>E		No	ClinGen ExAC gnomAD
rs1577275162 CA355358958	326	G>R		No	ClinGen Ensembl
CA355358946 rs1401384002	327	W>C		No	ClinGen gnomAD
rs1360572625 CA355358931	329	F>C		No	ClinGen gnomAD
rs1378689871 CA355358935	329	F>L		No	ClinGen gnomAD
rs1360572625 CA355358932	329	F>S		No	ClinGen gnomAD
CA355358914 rs1158026288	331	D>E		No	ClinGen gnomAD
CA2723362 rs200914846	333	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355358890 rs1267020117	335	H>R		No	ClinGen gnomAD
rs764687816 CA2723359	335	H>Y		No	ClinGen ExAC gnomAD
CA2723358 rs756854544	337	G>R		No	ClinGen ExAC gnomAD
CA88817559 rs756854544	337	G>W		No	ClinGen ExAC gnomAD
CA88817547 rs866717856	339	A>S		No	ClinGen TOPMed gnomAD
rs866717856 CA88817550	339	A>T		No	ClinGen TOPMed gnomAD
rs1050437357 CA88817534	340	L>F		No	ClinGen Ensembl
CA88814712 rs943188791	343	I>M		No	ClinGen Ensembl
CA355358843 rs1234499403	343	I>T		No	ClinGen gnomAD
rs1258229975 CA355358846	343	I>V		No	ClinGen gnomAD
CA355358337 rs1458971011	344	W>C		No	ClinGen Ensembl
rs374252729 CA2723333	344	W>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1399926993 CA355358345	344	W>R		No	ClinGen gnomAD
CA355358325 rs1560363083	345	Y>*		No	ClinGen Ensembl
CA2723332 rs774165272	345	Y>C		No	ClinGen ExAC gnomAD
CA355358283 rs761973588	348	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA2723331 rs766494373	348	Y>D		No	ClinGen ExAC gnomAD
CA355358279 rs1422920207 COSM1495470	349	G>S	kidney [Cosmic]	No	ClinGen cosmic curated TOPMed
rs937960145 CA88814697	350	H>R		No	ClinGen TOPMed gnomAD
rs776903653 CA2723329	351	E>K		No	ClinGen ExAC gnomAD
CA88814685 rs910385043	359	P>L		No	ClinGen TOPMed gnomAD
rs1458491525 CA355358176	361	V>M		No	ClinGen gnomAD
rs1257075879 CA355358137	364	W>*		No	ClinGen gnomAD
rs1193692887 CA355358126	365	H>D		No	ClinGen gnomAD
TCGA novel	366	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355358114 rs1198609034	366	E>K		No	ClinGen gnomAD
CA355358070 rs1330182898	369	T>I		No	ClinGen TOPMed
CA2723324 rs746320357	370	N>D		No	ClinGen ExAC gnomAD
rs80025695 CA2723323	371	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145909542 CA2723322	371	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1375841254 CA355358046	372	P>S		No	ClinGen gnomAD
rs755719892 CA2723319	373	K>E		No	ClinGen ExAC TOPMed gnomAD
CA2723320 rs755719892	373	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs752311820 CA2723318	373	K>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	375	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355357992 rs1231492457	376	G>D		No	ClinGen TOPMed gnomAD
CA355357999 rs1560362767	376	G>S		No	ClinGen Ensembl
CA88814617 rs949084356	377	G>D		No	ClinGen TOPMed
rs1457422122 CA355357964	378	S>C		No	ClinGen TOPMed gnomAD
rs1457422122 CA355357961	378	S>F		No	ClinGen TOPMed gnomAD
CA355357966 rs1457422122	378	S>Y		No	ClinGen TOPMed gnomAD

No associated diseases with Q9H300

1 regional properties for Q9H300

Type	Name	Position	InterPro Accession
domain	Peptidase S54, rhomboid domain	209 - 350	IPR022764

Functions

		Description
EC Number	3.4.21.105	Serine endopeptidases
Subcellular Localization	Mitochondrion inner membrane ; Multi-pass membrane protein ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
mitochondrial inner membrane	The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae.
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.

2 GO annotations of molecular function

Name	Definition
endopeptidase activity	Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain.
serine-type endopeptidase activity	Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine).

11 GO annotations of biological process

Name	Definition
membrane protein proteolysis	The proteolytic cleavage of a transmembrane protein leading to the release of its intracellular or ecto-domains.
mitochondrial fusion	Merging of two or more mitochondria within a cell to form a single compartment.
negative regulation of intrinsic apoptotic signaling pathway	Any process that stops, prevents or reduces the frequency, rate or extent of intrinsic apoptotic signaling pathway.
negative regulation of release of cytochrome c from mitochondria	Any process that decreases the rate, frequency or extent of release of cytochrome c from mitochondria, the process in which cytochrome c is enabled to move from the mitochondrial intermembrane space into the cytosol, which is an early step in apoptosis and leads to caspase activation.
proteolysis	The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds.
regulation of autophagy of mitochondrion	Any process that modulates the frequency, rate or extent of mitochondrion degradation by an autophagic process.
regulation of mitochondrion organization	Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion.
regulation of protein targeting to mitochondrion	Any process that modulates the frequency, rate or extent of protein targeting to mitochondrion.
regulation of proteolysis	Any process that modulates the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein.
regulation of reactive oxygen species metabolic process	Any process that modulates the frequency, rate or extent of reactive oxygen species metabolic process.
signal peptide processing	The proteolytic removal of a signal peptide from a protein during or after transport to a specific location in the cell.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q58EK4	parl	Presenilins-associated rhomboid-like protein, mitochondrial	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MAWRGWAQRG	WGCGQAWGAS	VGGRSCEELT	AVLTPPQLLG	RRFNFFIQQK	CGFRKAPRKV
70	80	90	100	110	120
EPRRSDPGTS	GEAYKRSALI	PPVEETVFYP	SPYPIRSLIK	PLFFTVGFTG	CAFGSAAIWQ
130	140	150	160	170	180
YESLKSRVQS	YFDGIKADWL	DSIRPQKEGD	FRKEINKWWN	NLSDGQRTVT	GIIAANVLVF
190	200	210	220	230	240
CLWRVPSLQR	TMIRYFTSNP	ASKVLCSPML	LSTFSHFSLF	HMAANMYVLW	SFSSSIVNIL
250	260	270	280	290	300
GQEQFMAVYL	SAGVISNFVS	YVGKVATGRY	GPSLGASGAI	MTVLAAVCTK	IPEGRLAIIF
310	320	330	340	350	360
LPMFTFTAGN	ALKAIIAMDT	AGMILGWKFF	DHAAHLGGAL	FGIWYVTYGH	ELIWKNREPL
370
VKIWHEIRTN	GPKKGGGSK