AiPD: Autoinhibited Protein Database

O15091

Gene name	PRORP
Protein name	Mitochondrial ribonuclease P catalytic subunit
Names	Mitochondrial ribonuclease P protein 3, Mitochondrial RNase P protein 3, Protein only RNase P catalytic subunit
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9692
EC number	3.1.26.5: Endoribonucleases producing 5'-phosphomonoesters
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

58-161 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

58-161 (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 O15091

Entry ID	Method	Resolution	Chain	Position	Source
4ROU	X-ray	271 A	A/B	274-583	PDB
4XGL	X-ray	180 A	A	207-583	PDB
4XGM	X-ray	198 A	A	207-583	PDB
7ONU	EM	300 A	E	46-583	PDB
AF-O15091-F1	Predicted				AlphaFoldDB

449 variants for O15091

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000855455 rs764714439 RCV001873232 RCV001824884	400	S>missing	Combined oxidative phosphorylation deficiency 54 Global developmental delay Leukoencephalopathy [ClinVar]	Yes	ClinVar dbSNP
CA7154862 VAR_086903 rs148259590	412	N>S	COXPD54; results in decreased mitochondrial tRNA 5'-end processing as shown by assays with mitochondrial ribonuclease P complex reconstituted in vitro [UniProt]	Yes	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD UniProt
COSM1724075 CA7154868 VAR_086904 rs147065101	421	R>C	Variant assessed as Somatic; 0.0 impact. NS COXPD54; unknown pathological significance [NCI-TCGA, Cosmic, UniProt]	Yes	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD UniProt
VAR_086905 rs144536804 CA7154898	434	A>D	COXPD54; unknown pathological significance [UniProt]	Yes	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD UniProt
rs777185638 RCV001824883 RCV001869241 RCV000855454 VAR_086906 CA7154908	445	R>Q	Combined oxidative phosphorylation deficiency 54 Global developmental delay Leukoencephalopathy COXPD54; results in decreased mitochondrial tRNA 5'-end processing as shown by assays with mitochondrial ribonuclease P complex reconstituted in vitro [ClinVar, UniProt]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD UniProt
CA389490807 VAR_086907 RCV001824882 RCV000855453 rs1169927428	485	A>V	Perrault syndrome 1 Combined oxidative phosphorylation deficiency 54 COXPD54; decreased protein levels in homozygous patient cells; impaired mitochondrial RNA processing in homozygous patient cells [ClinVar, UniProt]	Yes	ClinGen ClinVar dbSNP gnomAD UniProt
rs1555317890 CA7154635	4	Y>C		No	ClinGen Ensembl
CA7154638 rs758512065	8	I>S		No	ClinGen ExAC
rs1157401940 CA389442219	10	S>N		No	ClinGen gnomAD
CA7154640 rs751646425	12	P>Q		No	ClinGen ExAC gnomAD
rs376704450 CA389442243	13	K>N		No	ClinGen TOPMed gnomAD
rs1469187472 CA389442241	13	K>R		No	ClinGen TOPMed gnomAD
CA389442246 rs1373044111	14	L>V		No	ClinGen gnomAD
CA389442256 rs1413800818	15	W>L		No	ClinGen gnomAD
CA389442272 rs1209267262	17	S>I		No	ClinGen TOPMed
TCGA novel	17	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1010109767 CA258825118	19	Y>*		No	ClinGen Ensembl
CA258825119 rs112566847	20	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA389442292 rs1354353023	20	L>P		No	ClinGen TOPMed
rs112566847 CA389442289	20	L>V		No	ClinGen gnomAD
rs1352175464 CA389442308	23	G>D		No	ClinGen TOPMed gnomAD
CA7154642 rs369537536	25	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1595146840 CA389442325	26	H>P		No	ClinGen Ensembl
CA7154644 rs748532370	28	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs905020895	28	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1278928842 CA389442340	28	Y>C		No	ClinGen gnomAD
rs749697011 CA7154646	30	S>L		No	ClinGen ExAC gnomAD
CA7154647 rs771452002	34	A>E		No	ClinGen ExAC TOPMed gnomAD
rs771452002 CA389442376	34	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1423600838 CA389442388	36	R>H		No	ClinGen TOPMed
TCGA novel	38	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389442432 rs1478653885	40	R>G		No	ClinGen gnomAD
CA258825152 rs1001936077	42	Q>R		No	ClinGen Ensembl
CA258825155 rs1033375657	43	Q>*		No	ClinGen TOPMed gnomAD
rs1033375657 CA389442490	43	Q>E		No	ClinGen TOPMed gnomAD
rs952476114 CA258825163	43	Q>H		No	ClinGen TOPMed
rs775846566 CA258825159	43	Q>R		No	ClinGen Ensembl
CA7154649 rs759089620	45	L>M		No	ClinGen ExAC TOPMed gnomAD
rs759089620 CA389442525	45	L>V		No	ClinGen ExAC TOPMed gnomAD
rs548763434 CA258825175	45	L>W		No	ClinGen Ensembl
CA389442548 rs1566437114	46	F>S		No	ClinGen Ensembl
rs1308318589 CA389442562	47	S>A		No	ClinGen gnomAD
CA7154651 rs539818338	48	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763731001 CA7154653	50	T>K		No	ClinGen ExAC
CA7154655 rs761715337	51	M>T		No	ClinGen ExAC gnomAD
CA7154654 rs776645614	51	M>V		No	ClinGen ExAC TOPMed gnomAD
CA258825202 rs372174020	52	S>C		No	ClinGen ExAC TOPMed gnomAD
CA7154656 rs372174020	52	S>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	52	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7154657 rs138792278	54	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7154658 rs755000800	56	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1341768260 CA389442729	57	K>E		No	ClinGen gnomAD
CA7154659 rs767756203	57	K>R		No	ClinGen ExAC gnomAD
CA389442734 rs767756203	57	K>T		No	ClinGen ExAC gnomAD
CA7154661 rs199994168	59	T>K		No	ClinGen 1000Genomes ExAC gnomAD
CA7154660 rs199994168	59	T>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1452482810 CA389442810	62	I>V		No	ClinGen gnomAD
CA258825217 rs976960809	63	A>T		No	ClinGen Ensembl
rs1433838842 CA389442820	63	A>V		No	ClinGen TOPMed
rs567358562 CA389442824	64	K>M		No	ClinGen gnomAD
CA7154662 rs778052465	64	K>N		No	ClinGen ExAC gnomAD
rs567358562 CA258825222	64	K>R		No	ClinGen gnomAD
rs187173981 CA7154663	66	R>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA258825253 rs535669172	67	Y>C		No	ClinGen Ensembl
rs1445447789 CA389442888	69	R>S		No	ClinGen TOPMed
rs1400150577 CA389442894	70	K>E		No	ClinGen TOPMed
CA389442911 rs1169183772	71	D>G		No	ClinGen TOPMed
rs779457013 CA7154665	71	D>N		No	ClinGen ExAC gnomAD
CA7154666 rs745395412	72	E>D		No	ClinGen ExAC gnomAD
CA7154668 rs143142949	73	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs771671396 CA7154667	73	G>S		No	ClinGen ExAC TOPMed gnomAD
rs746603857 CA7154669	74	S>N		No	ClinGen ExAC gnomAD
rs1595147437 CA389442962	75	N>S		No	ClinGen Ensembl
CA7154670 rs768342043	76	K>E		No	ClinGen ExAC TOPMed gnomAD
CA389442987 rs761645630	77	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs761645630 CA7154672	77	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA7154673 rs765109498	79	Y>D		No	ClinGen ExAC gnomAD
rs139915251 CA258825291	81	V>F		No	ClinGen ESP
CA7154674 rs773092290	82	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1566437469 CA389443094	83	H>L		No	ClinGen Ensembl
rs1225519020 CA389443099	83	H>Q		No	ClinGen gnomAD
CA389443089 rs1205481422	83	H>Y		No	ClinGen TOPMed
rs760446387	86	L>*	Variant assessed as Somatic; 0.0005355 impact. [NCI-TCGA]	No	NCI-TCGA
CA389443198 rs1250963328	87	A>G		No	ClinGen gnomAD
CA7154678 rs761984228	89	A>G		No	ClinGen ExAC TOPMed gnomAD
rs985476298 CA258825335	89	A>T		No	ClinGen TOPMed
CA7154679 rs761984228	89	A>V		No	ClinGen ExAC TOPMed gnomAD
CA7154680 rs756353700	90	A>P		No	ClinGen ExAC
CA258825361 rs202086629	93	R>K		No	ClinGen 1000Genomes gnomAD
CA389443426 rs1468446179	97	N>S		No	ClinGen gnomAD
CA7154682 rs200869170	99	Q>E		No	ClinGen 1000Genomes ExAC
rs201601708 CA7154683	102	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA389443510 rs1374024878 COSM955494	102	D>N	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA7154684 rs779597494	104	A>T		No	ClinGen ExAC TOPMed gnomAD
rs371691966 CA7154685	104	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7154686 rs757997439	105	L>S		No	ClinGen ExAC gnomAD
rs779771512 CA7154687	107	P>A		No	ClinGen ExAC gnomAD
rs779771512 CA389443679	107	P>S		No	ClinGen ExAC gnomAD
rs1333871425 CA389443720	108	V>A		No	ClinGen TOPMed
CA7154688 rs746513900	110	N>K		No	ClinGen ExAC TOPMed gnomAD
CA389443760 rs1413142890	110	N>S		No	ClinGen TOPMed
CA389443793 rs1355714770	111	T>S		No	ClinGen gnomAD
CA389443814 rs1322382091	112	I>T		No	ClinGen gnomAD
rs532105541 CA7154689	112	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776297901 CA7154691	113	Q>E		No	ClinGen ExAC gnomAD
CA7154692 rs747924955	116	T>A		No	ClinGen ExAC gnomAD
CA389443961 rs1341261817	117	Q>*		No	ClinGen gnomAD
rs769564380 CA7154693	117	Q>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	123	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1291837972 CA389444174	124	W>*		No	ClinGen TOPMed gnomAD
CA389444224 rs1483519328	126	K>*		No	ClinGen TOPMed
CA389444231 COSM955495 rs1334535965	126	K>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA258825397 rs147326841	127	L>P		No	ClinGen ESP
rs1263001644 CA389444363	130	D>G		No	ClinGen TOPMed gnomAD
rs773143628 CA7154694	130	D>N		No	ClinGen ExAC gnomAD
rs762932894 CA7154695	131	L>F		No	ClinGen ExAC gnomAD
rs940358747 CA258825436	135	T>S		No	ClinGen TOPMed
CA389444537 rs1286209251	136	G>R		No	ClinGen TOPMed
rs1215441402 CA389444545	136	G>V		No	ClinGen TOPMed
CA7154699 rs764247234	137	K>T		No	ClinGen ExAC gnomAD
CA389444612 rs1316493018	140	F>C		No	ClinGen TOPMed
rs762093457 CA7154701	140	F>L		No	ClinGen ExAC TOPMed gnomAD
rs765639761 CA7154702	141	E>G		No	ClinGen ExAC gnomAD
CA389444614 rs148762926	141	E>K		No	ClinGen ESP gnomAD
CA258825468 rs148762926	141	E>Q		No	ClinGen ESP gnomAD
CA7154703 rs750804324	142	S>R		No	ClinGen ExAC TOPMed gnomAD
rs917580002 CA258825480	143	W>C		No	ClinGen TOPMed gnomAD
CA7154704 rs759042625	145	I>V		No	ClinGen ExAC TOPMed gnomAD
CA7154706 rs751051727	146	S>*		No	ClinGen ExAC gnomAD
CA7154707 rs751051727	146	S>L		No	ClinGen ExAC gnomAD
rs1555318100 CA7154709	148	M>L		No	ClinGen Ensembl
rs747777191 CA7154711	149	A>V		No	ClinGen ExAC gnomAD
rs1198603767 CA389444901	151	C>W		No	ClinGen gnomAD
CA7154713 rs142395477	153	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1309830748 CA389444953	154	S>P		No	ClinGen gnomAD
rs545380212 CA7154715	155	I>M		No	ClinGen 1000Genomes ExAC gnomAD
COSM1607645 CA7154714 rs368812260	155	I>V	liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1208368303 CA389445060	162	L>R		No	ClinGen gnomAD
rs1483289344 CA389445070	163	A>S		No	ClinGen gnomAD
CA389445089 rs1178695871	164	W>*		No	ClinGen gnomAD
rs1595148338 CA389445110	165	V>G		No	ClinGen Ensembl
CA258825585 rs1054880130	167	A>D		No	ClinGen TOPMed gnomAD
rs774226722 CA7154717	168	K>R		No	ClinGen ExAC gnomAD
CA389445144 rs1439933387	169	N>H		No	ClinGen gnomAD
CA389445172 rs1180053119	171	G>V		No	ClinGen TOPMed
CA389445180 rs1436644798	172	I>V		No	ClinGen gnomAD
rs888122859 CA258825594	174	S>N		No	ClinGen Ensembl
CA258825605 rs569436113	181	Y>C		No	ClinGen gnomAD
TCGA novel	182	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA258825615 rs936487938	184	L>P		No	ClinGen TOPMed
rs1300285021 CA389445434	185	C>S		No	ClinGen TOPMed gnomAD
rs1391330608 CA389445458	186	V>D		No	ClinGen gnomAD
CA7154722 rs762153940	187	F>L		No	ClinGen ExAC gnomAD
CA7154723 rs765552523	188	H>R		No	ClinGen ExAC TOPMed gnomAD
CA7154725 rs750859496	192	S>F		No	ClinGen ExAC gnomAD
TCGA novel	196	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7154729 rs754458988	197	V>L		No	ClinGen ExAC gnomAD
rs1595148581 CA389445755	199	E>K		No	ClinGen Ensembl
CA389445815 rs1230966684	202	K>E		No	ClinGen gnomAD
CA389445877 rs139513682 CA7154731	205	Y>*	Variant assessed as Somatic; 0.0004621 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD NCI-TCGA
rs755801721 CA7154732	206	K>E		No	ClinGen ExAC gnomAD
CA389445904 rs1227090122	207	T>A		No	ClinGen TOPMed
rs777378830 CA258825650	207	T>I		No	ClinGen ExAC TOPMed gnomAD
rs777378830 CA7154733	207	T>N		No	ClinGen ExAC TOPMed gnomAD
CA258825651 rs761342598	208	L>S		No	ClinGen Ensembl
rs1279204498 CA389446401	208	L>V		No	ClinGen TOPMed
rs143311469 CA7154734	211	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA7154735 rs770676199	212	G>S		No	ClinGen ExAC gnomAD
TCGA novel	213	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7154736 rs778724732	214	S>G		No	ClinGen ExAC TOPMed gnomAD
rs866629250 CA258825661	217	I>S		No	ClinGen Ensembl
CA389446466 rs1168454208	218	R>Q		No	ClinGen TOPMed gnomAD
rs1461787173 CA389446465	218	R>W		No	ClinGen TOPMed gnomAD
rs375489022 CA258825676	220	L>W		No	ClinGen ESP
CA389446489 rs1402133980	222	H>D		No	ClinGen gnomAD
rs868084162 CA258825685	225	R>G		No	ClinGen Ensembl
CA389446518 rs1439293952	226	W>G		No	ClinGen gnomAD
CA7154740 rs146652340	228	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1216029275 CA389446539	229	A>T		No	ClinGen gnomAD
rs45626032 CA7154741	229	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	235	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7154744 rs766792658	235	D>N		No	ClinGen ExAC TOPMed gnomAD
CA7154745 rs774564773	236	I>L		No	ClinGen ExAC TOPMed gnomAD
rs550528802 CA258825718	237	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA389446596 rs1475782568	237	K>R		No	ClinGen gnomAD
rs780434139	239	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA7154749 rs752297983	240	I>T		No	ClinGen ExAC gnomAD
rs767876471 CA7154748	240	I>V		No	ClinGen ExAC gnomAD
CA389446635 rs1252360345	244	K>Q		No	ClinGen Ensembl
CA7154750 rs373716530	244	K>R		No	ClinGen ESP ExAC gnomAD
CA7154751 rs763770786	245	K>N		No	ClinGen ExAC gnomAD
CA389446658 rs1200029266	247	Y>H		No	ClinGen TOPMed
CA7154752 rs753425011	249	D>E		No	ClinGen ExAC TOPMed gnomAD
rs200343263 CA258825750	254	A>P		No	ClinGen Ensembl
rs757062645 CA7154753	254	A>V		No	ClinGen ExAC gnomAD
CA7154755 rs745647112	256	L>P		No	ClinGen ExAC gnomAD
CA389446733 rs1268086957	258	Q>E		No	ClinGen gnomAD
rs572869499 CA258825755	258	Q>R		No	ClinGen Ensembl
rs758401670 CA7154756	261	N>S		No	ClinGen ExAC TOPMed gnomAD
rs779836044 CA7154757	262	T>S		No	ClinGen ExAC gnomAD
CA7154758 rs748261609	264	W>*		No	ClinGen ExAC gnomAD
CA7154760 rs773579963	267	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA389446815 rs1367215294	269	E>Q		No	ClinGen TOPMed
rs945649610 CA258825782	271	L>V		No	ClinGen Ensembl
CA389446890 rs1284857732	274	D>E		No	ClinGen gnomAD
rs982354198 CA258825788	275	I>T		No	ClinGen Ensembl
rs376742944 CA7154761	276	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs771050896 CA7154762	276	V>G		No	ClinGen ExAC gnomAD
rs376742944 CA258825796	276	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs759794383 CA7154764	277	P>A		No	ClinGen ExAC gnomAD
rs768088675 CA7154765	278	M>V		No	ClinGen ExAC gnomAD
rs917611081 CA258825841	279	L>M		No	ClinGen TOPMed gnomAD
CA389446991 rs1196780711	282	L>S		No	ClinGen gnomAD
CA258825846 rs938122695	284	A>D		No	ClinGen Ensembl
rs775824127 CA7154766	285	F>S		No	ClinGen ExAC gnomAD
TCGA novel	289	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs868212700 CA258825868	290	K>E		No	ClinGen Ensembl
CA258825871 rs888166844	290	K>T		No	ClinGen Ensembl
rs201340715 CA7154768	291	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1315636522 CA389447133	292	I>M		No	ClinGen gnomAD
CA7154769 COSM3706251 rs753337084	292	I>V	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1344029673 CA389447167	295	D>N		No	ClinGen TOPMed gnomAD
CA389447199 rs1314331065	297	Y>C		No	ClinGen gnomAD
CA389447206 rs1353397251	298	S>*		No	ClinGen gnomAD
rs1280109077 CA389447250	302	L>I		No	ClinGen gnomAD
rs750283477 CA7154773	302	L>P		No	ClinGen ExAC gnomAD
CA389447260 rs1282264277	303	D>G		No	ClinGen gnomAD
rs1440289530 CA389447256	303	D>N		No	ClinGen gnomAD
rs941052361 CA258825910	304	I>F		No	ClinGen gnomAD
rs1037125675 CA258825915	305	L>I		No	ClinGen Ensembl
rs1259846041 CA389447293	306	S>T		No	ClinGen gnomAD
CA389447313 rs1595149771	307	Y>C		No	ClinGen Ensembl
CA389447305 rs1187715420	307	Y>H		No	ClinGen gnomAD
CA389447329 rs1471448044	308	L>R		No	ClinGen gnomAD
rs780044102 CA7154777	308	L>V		No	ClinGen ExAC gnomAD
TCGA novel	311	N>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389447376 rs1179915761	311	N>S		No	ClinGen TOPMed
rs754952865 CA7154778	314	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA389447454 rs1434789046 CA389447456	317	E>D		No	ClinGen gnomAD
rs1212620340 CA389447443	317	E>K		No	ClinGen gnomAD
rs1175180518 CA389447486	320	A>T		No	ClinGen gnomAD
CA7154780 rs372368846	321	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7154779 rs778065410	321	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	322	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389447528 rs1329322291	322	S>I		No	ClinGen TOPMed gnomAD
CA389447516 rs1329322291	322	S>N		No	ClinGen TOPMed gnomAD
rs1439940430 CA389447545	323	I>R		No	ClinGen gnomAD
COSM223688 rs1566439406 CA389447593	326	W>*	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
TCGA novel	326	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1234454422 CA389447602	327	F>Y		No	ClinGen TOPMed
rs1035384264 CA258827425	330	V>G		No	ClinGen Ensembl
CA7154805 rs753986615	331	P>T		No	ClinGen ExAC gnomAD
CA389447735 rs1399547147	333	K>N		No	ClinGen TOPMed gnomAD
CA389447752 rs1432088331	335	W>C		No	ClinGen gnomAD
rs987472564 CA258827451	337	G>A		No	ClinGen TOPMed
rs959687264 CA258827455	338	Q>E		No	ClinGen Ensembl
CA389447787 rs1374403908	340	T>I		No	ClinGen gnomAD
rs746022783 CA7154808	341	T>A		No	ClinGen ExAC gnomAD
CA7154809 rs772329002	342	V>G		No	ClinGen ExAC gnomAD
rs539663064 CA258827467	342	V>L		No	ClinGen gnomAD
CA7154810 rs377398996	343	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs530204460 CA7154811	343	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs200601862 CA7154824	349	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7154827 rs780233598	350	G>V		No	ClinGen ExAC gnomAD
TCGA novel	352	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1297815540 CA389447883	354	T>A		No	ClinGen gnomAD
rs747397398 CA7154829	355	I>L		No	ClinGen ExAC gnomAD
CA7154830 rs376175469	355	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs747397398 CA389447888	355	I>V		No	ClinGen ExAC gnomAD
CA389447952 rs1291774283	358	I>M		No	ClinGen TOPMed gnomAD
CA389447937 rs1324647189	358	I>V		No	ClinGen TOPMed
CA389447960 rs1388857277	359	Q>*		No	ClinGen TOPMed
rs781668168 CA7154831	359	Q>H		No	ClinGen ExAC gnomAD
rs1240316806 CA389448027	362	P>A		No	ClinGen TOPMed gnomAD
rs1261972807 CA389448036	362	P>L		No	ClinGen gnomAD
CA389448034 rs1261972807	362	P>Q		No	ClinGen gnomAD
TCGA novel	367	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1389699096 CA389448138	367	C>R		No	ClinGen TOPMed
CA389448190 rs1257750478	370	G>*		No	ClinGen gnomAD
CA389448270 rs1185574293	373	M>K		No	ClinGen gnomAD
CA389448264 rs1185574293	373	M>T		No	ClinGen gnomAD
rs1486554690 CA389448257	373	M>V		No	ClinGen gnomAD
rs772636370 CA7154834	375	D>N		No	ClinGen ExAC gnomAD
CA7154835 rs748809567	379	G>*		No	ClinGen ExAC gnomAD
CA389448385 rs1455567234	379	G>V		No	ClinGen TOPMed
CA389448397 rs1197940515	381	D>N		No	ClinGen TOPMed
CA389448419 rs1365676439	382	Q>R		No	ClinGen gnomAD
TCGA novel	383	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7154836 rs149121781	385	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759407337 CA389448528	387	T>A		No	ClinGen ExAC TOPMed gnomAD
CA7154838 rs759407337	387	T>P		No	ClinGen ExAC TOPMed gnomAD
rs755178679 CA7154849	391	L>F		No	ClinGen ExAC gnomAD
COSM3814736 rs1395962254 CA389489938	392	K>N	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA389489948 rs1300458739	394	F>L		No	ClinGen gnomAD
CA7154851 rs748513487	395	E>*		No	ClinGen ExAC TOPMed gnomAD
CA7154853 rs778289900	397	F>S		No	ClinGen ExAC gnomAD
rs756627761 CA7154852	397	F>V		No	ClinGen ExAC gnomAD
CA7154854 CA7154856 rs143121800	398	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs143121800 CA7154855	398	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7154858 rs745576669	401	R>C		No	ClinGen ExAC TOPMed gnomAD
CA7154859 rs547075844	401	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs745576669 CA389489994	401	R>S		No	ClinGen ExAC TOPMed gnomAD
rs567593074 CA7154860	402	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1220489260 CA389490021	405	D>G		No	ClinGen TOPMed
CA389490040 rs1253779996	408	I>T		No	ClinGen gnomAD
rs760500911 CA7154861	408	I>V		No	ClinGen ExAC gnomAD
CA259268295 rs965942319	409	D>G		No	ClinGen Ensembl
CA389490050 rs1387271038	410	G>S		No	ClinGen gnomAD
rs776592330 CA7154863	412	N>K		No	ClinGen ExAC gnomAD
rs143102943 CA7154864	414	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA389490074 rs1276292393	414	A>T		No	ClinGen TOPMed
rs1363809511 CA389490080	415	K>E		No	ClinGen TOPMed
rs1566480704 CA389490083	415	K>R		No	ClinGen Ensembl
rs1294850337 CA389490091	416	M>T		No	ClinGen TOPMed
CA259268296 rs921785076	417	F>L		No	ClinGen TOPMed gnomAD
rs200805783 CA7154865	418	P>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7154866 rs200805783	418	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1465570372 CA389490116	420	V>L		No	ClinGen gnomAD
rs756457316 CA7154870	421	R>H		No	ClinGen ExAC TOPMed gnomAD
rs756457316 CA259268297	421	R>P		No	ClinGen ExAC TOPMed gnomAD
CA7154869 rs147065101	421	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1273922512 CA389490136	423	S>F		No	ClinGen gnomAD
rs1166725316 CA389490147	425	L>V		No	ClinGen TOPMed
CA7154896 rs139755386	430	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1255467596 CA389490457	432	Q>R		No	ClinGen TOPMed
CA259277615 rs567620164	435	K>E		No	ClinGen Ensembl
CA389490479 rs1472098103	436	R>Q		No	ClinGen TOPMed gnomAD
CA7154899 rs150623924	436	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1408152768 CA389490488	437	N>K		No	ClinGen gnomAD
VAR_054212 CA7154901 rs11156878	437	N>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7154902 rs773094276	438	L>P		No	ClinGen ExAC gnomAD
CA389490494 rs1359530113	439	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs759615583 CA259277616	439	R>L		No	ClinGen ExAC TOPMed gnomAD
CA7154903 rs759615583	439	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs775417525 CA7154905	440	L>P		No	ClinGen ExAC TOPMed gnomAD
CA7154906 rs577819325	442	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA7154907 rs757231785	445	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA389490535 rs1242369911	447	H>P		No	ClinGen gnomAD
CA389490541 rs1594359778	448	M>V		No	ClinGen Ensembl
rs762220826 CA7154909	449	L>P		No	ClinGen ExAC gnomAD
TCGA novel	449	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7154910 rs149443288	450	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA7154911 rs149443288	450	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs543311710 CA259277619	451	R>Q		No	ClinGen gnomAD
CA7154914 rs765973938	453	S>P		No	ClinGen ExAC gnomAD
rs765973938 CA7154913	453	S>T		No	ClinGen ExAC gnomAD
rs1176261168 CA389490577	454	Q>P		No	ClinGen gnomAD
rs780771121 CA7154916	455	W>G		No	ClinGen ExAC gnomAD
rs747964091 CA7154917	456	S>I		No	ClinGen ExAC gnomAD
CA389490594 rs747964091	456	S>N		No	ClinGen ExAC gnomAD
CA259277621 rs956119293	457	R>Q		No	ClinGen TOPMed gnomAD
CA259277620 rs978666601	457	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs146117324 CA7154918	458	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1329506543 CA389490609	459	E>K		No	ClinGen gnomAD
TCGA novel	459	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777700979 CA7154919	460	M>I		No	ClinGen ExAC TOPMed gnomAD
CA7154920 rs779060481	461	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1594359880 CA389490640	463	V>M		No	ClinGen Ensembl
rs1307180779 CA389490648	464	Q>*		No	ClinGen gnomAD
TCGA novel	465	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA259277622 rs374974193	467	A>V		No	ClinGen TOPMed
TCGA novel	469	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389490688 rs1267581428	469	C>Y		No	ClinGen TOPMed
rs1340390885 CA389490693	470	F>V		No	ClinGen TOPMed
rs766680749	471	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7154922 rs369441143	471	F>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA7154923 rs538546668	473	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA259277623 rs373405122	474	D>N		No	ClinGen ESP TOPMed
CA389490729 rs1343357011	475	I>T		No	ClinGen TOPMed gnomAD
CA7154924 rs747038684	475	I>V		No	ClinGen ExAC gnomAD
rs374947525 CA7154944	476	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs763175565 CA7154947	477	E>D		No	ClinGen ExAC gnomAD
rs771497054 CA7154948	478	D>G		No	ClinGen ExAC gnomAD
rs376712508 CA259277994	480	P>L		No	ClinGen Ensembl
CA389490779 rs1424893360	481	F>S		No	ClinGen TOPMed
CA259277995 rs890706900 COSM553012	484	Y>C	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1169927428 CA389490806	485	A>G		No	ClinGen gnomAD
CA389490823 rs759098789	488	H>P		No	ClinGen ExAC TOPMed gnomAD
CA7154950 rs759098789	488	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1195711456 CA389490828	489	S>A		No	ClinGen TOPMed
CA7154951 rs767071304	489	S>C		No	ClinGen ExAC gnomAD
CA7154952 rs752197996	490	G>R		No	ClinGen ExAC gnomAD
CA7154953 rs760357539	491	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA7154956 rs150818048	492	H>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7154957 rs778915206	492	H>Q		No	ClinGen ExAC gnomAD
CA7154955 rs150818048	492	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7154954 rs763715708	492	H>Y		No	ClinGen ExAC gnomAD
rs1247551514 CA389490861 CA389490860	494	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1483223660 CA389490862	495	F>I		No	ClinGen Ensembl
CA7154959 rs758400737	497	T>R		No	ClinGen ExAC gnomAD
rs781491503 CA7154960	498	R>G		No	ClinGen ExAC gnomAD
TCGA novel	499	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7154961 rs748210427	502	R>Q		No	ClinGen ExAC gnomAD
CA259277998 rs865834081	502	R>W		No	ClinGen Ensembl
rs770160800 CA7154962	504	H>Y		No	ClinGen ExAC TOPMed
CA7154964 rs540037840	506	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1316981359 CA389490946	507	C>F		No	ClinGen gnomAD
CA389490955 rs1243482882	509	P>S		No	ClinGen gnomAD
rs1594364066 CA389490961	510	D>H		No	ClinGen Ensembl
CA259277999 rs780153369	511	A>G		No	ClinGen Ensembl
CA7154965 rs371621427	515	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7154966 rs146219622	515	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7154968 rs760027707	518	F>S		No	ClinGen ExAC TOPMed gnomAD
CA259278000 rs977791357	519	K>R		No	ClinGen TOPMed gnomAD
rs1159523333 CA389491037	521	Q>*		No	ClinGen TOPMed gnomAD
CA389491035 rs1159523333	521	Q>K		No	ClinGen TOPMed gnomAD
rs868245096 CA259278001	523	G>R		No	ClinGen Ensembl
rs760132229 CA7154971	524	H>Y		No	ClinGen ExAC gnomAD
CA7154972 rs374443643	526	L>V		No	ClinGen ESP ExAC gnomAD
TCGA novel	527	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389491080 rs1422831009	527	A>V		No	ClinGen TOPMed
CA389491082 rs1398377144	528	I>V		No	ClinGen gnomAD
CA7154973 rs753366107	534	G>E		No	ClinGen ExAC gnomAD
CA389491123 rs1200181029	534	G>R		No	ClinGen TOPMed
CA7154975 rs761686316	536	K>N		No	ClinGen ExAC TOPMed gnomAD
CA389491157 rs1245104566	539	F>Y		No	ClinGen TOPMed
CA7154989 rs200480288	541	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7154990 rs767993267	541	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1255147384 CA389491187	542	I>T		No	ClinGen gnomAD
rs776195828 CA7154991	545	Y>C		No	ClinGen ExAC gnomAD
CA389491216 rs1200391429	546	D>G		No	ClinGen gnomAD
CA389491229 rs1240180376	548	V>A		No	ClinGen gnomAD
CA7154993 rs143982484	549	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA7154992 rs761443569	549	V>L		No	ClinGen ExAC gnomAD
CA259278283 rs575219406	552	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA389491252 rs1195646422	552	T>I		No	ClinGen TOPMed
CA7154994 rs575219406	552	T>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1435073491 CA389491256	553	G>E		No	ClinGen gnomAD
CA259278284 rs543708866	554	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
rs762794607 CA7154995 COSM1707266	555	S>L	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA7154996 rs766421670	556	W>*		No	ClinGen ExAC gnomAD
CA259278286 rs891399600	556	W>C		No	ClinGen TOPMed
rs1333937245 CA389491279	557	H>D		No	ClinGen gnomAD
CA389491280 rs1333937245	557	H>Y		No	ClinGen gnomAD
rs751479450 CA7154997	558	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1445365686 CA389491297	559	P>L		No	ClinGen TOPMed gnomAD
CA7154999 rs754948954	560	Y>C		No	ClinGen ExAC gnomAD
CA389491306 rs1230959358	561	D>H		No	ClinGen TOPMed
CA389491327 rs1566542897	563	D>E		No	ClinGen Ensembl
CA259278287 rs781285577	563	D>G		No	ClinGen gnomAD
CA389491339 rs1307859410	565	V>A		No	ClinGen gnomAD
CA389491357 rs1460848488	568	C>R		No	ClinGen gnomAD
CA7155001 rs753923612	569	S>F		No	ClinGen ExAC gnomAD
CA7155004 rs746263597	574	T>I		No	ClinGen ExAC gnomAD
CA389491436 rs1247301144	579	L>F		No	ClinGen gnomAD
CA389491449 rs1489591167	581	Q>E		No	ClinGen gnomAD
rs202038313 CA7155005	581	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780552791 CA7155006	582	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1319648690 CA389491473	584	T>L		No	ClinGen TOPMed

1 associated diseases with O15091

[MIM: 619737]: Combined oxidative phosphorylation deficiency 54 (COXPD54)

An autosomal recessive, multisystem disorder with highly variable manifestations resulting from defective mitochondrial transcription and translation. Clinical features include early-onset sensorineural hearing loss, sometimes associated with global developmental delay or primary ovarian failure, peripheral hypertonia, seizures, muscle weakness, behavioral abnormalities, and leukoencephalopathy on brain imaging. Serum lactate may or may not be elevated. {ECO:0000269|PubMed:34715011}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal recessive, multisystem disorder with highly variable manifestations resulting from defective mitochondrial transcription and translation. Clinical features include early-onset sensorineural hearing loss, sometimes associated with global developmental delay or primary ovarian failure, peripheral hypertonia, seizures, muscle weakness, behavioral abnormalities, and leukoencephalopathy on brain imaging. Serum lactate may or may not be elevated. {ECO:0000269|PubMed:34715011}. Note=The disease is caused by variants affecting the gene represented in this entry.

2 regional properties for O15091

Type	Name	Position	InterPro Accession
domain	Protein-only RNase P, C-terminal	342 - 578	IPR031595
domain	Mitochondrial ribonuclease P catalytic subunit, PIN domain	406 - 528	IPR033495

Functions

		Description
EC Number	3.1.26.5	Endoribonucleases producing 5'-phosphomonoesters
Subcellular Localization	Mitochondrion
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 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.
mitochondrial nucleoid	The region of a mitochondrion to which the DNA is confined.
mitochondrial ribonuclease P complex	A ribonuclease P complex located in the mitochondrion of a eukaryotic cell, where it catalyzes the 5' endonucleolytic cleavage of precursor tRNAs to yield mature tRNAs. The subunit composition of mitochondrial ribonuclease P complexes varies between species. The complex contains a single RNA molecule and a single protein molecule in yeast (PMID:12045094), but comprises three proteins and lacks an RNA component in humans.
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.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.

2 GO annotations of molecular function

Name	Definition
metal ion binding	Binding to a metal ion.
ribonuclease P activity	Catalysis of the endonucleolytic cleavage of RNA, removing 5' extra nucleotides from tRNA precursor.

2 GO annotations of biological process

Name	Definition
mitochondrial tRNA 5'-end processing	The process in which the 5' end of a pre-tRNA molecule is converted to that of a mature tRNA in the mitochondrion.
tRNA 5'-leader removal	Generation of the mature 5'-end of the tRNA, usually via an endonucleolytic cleavage by RNase P.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8JZY4	Prorp	Mitochondrial ribonuclease P catalytic subunit	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MTFYLFGIRS	FPKLWKSPYL	GLGPGHSYVS	LFLADRCGIR	NQQRLFSLKT	MSPQNTKATN
70	80	90	100	110	120
LIAKARYLRK	DEGSNKQVYS	VPHFFLAGAA	KERSQMNSQT	EDHALAPVRN	TIQLPTQPLN
130	140	150	160	170	180
SEEWDKLKED	LKENTGKTSF	ESWIISQMAG	CHSSIDVAKS	LLAWVAAKNN	GIVSYDLLVK
190	200	210	220	230	240
YLYLCVFHMQ	TSEVIDVFEI	MKARYKTLEP	RGYSLLIRGL	IHSDRWREAL	LLLEDIKKVI
250	260	270	280	290	300
TPSKKNYNDC	IQGALLHQDV	NTAWNLYQEL	LGHDIVPMLE	TLKAFFDFGK	DIKDDNYSNK
310	320	330	340	350	360
LLDILSYLRN	NQLYPGESFA	HSIKTWFESV	PGKQWKGQFT	TVRKSGQCSG	CGKTIESIQL
370	380	390	400	410	420
SPEEYECLKG	KIMRDVIDGG	DQYRKTTPQE	LKRFENFIKS	RPPFDVVIDG	LNVAKMFPKV
430	440	450	460	470	480
RESQLLLNVV	SQLAKRNLRL	LVLGRKHMLR	RSSQWSRDEM	EEVQKQASCF	FADDISEDDP
490	500	510	520	530	540
FLLYATLHSG	NHCRFITRDL	MRDHKACLPD	AKTQRLFFKW	QQGHQLAIVN	RFPGSKLTFQ
550	560	570	580
RILSYDTVVQ	TTGDSWHIPY	DEDLVERCSC	EVPTKWLCLH	QKT