AiPD: Autoinhibited Protein Database

P78345

Gene name	RPP38
Protein name	Ribonuclease P protein subunit p38
Names	RNaseP protein p38
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10557
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

196-268 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

196-268 (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

3 structures for P78345

Entry ID	Method	Resolution	Chain	Position	Source
6AHR	EM	392 A	C	1-283	PDB
6AHU	EM	366 A	C	1-283	PDB
AF-P78345-F1	Predicted				AlphaFoldDB

258 variants for P78345

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA203437173 rs907467683	2	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA5418054 rs746325635	3	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1205120096 CA376082177	3	A>T		No	ClinGen gnomAD
CA5418055 rs746325635	3	A>V		No	ClinGen ExAC TOPMed gnomAD
CA376082196 rs1471333627	6	Q>P		No	ClinGen gnomAD
rs77992199 CA5418056	8	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs77992199 CA376082211	8	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM427320 CA5418059 rs372894666	10	R>Q	large_intestine breast [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA5418058 rs138934702	10	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs767449033 CA5418061	12	S>F		No	ClinGen ExAC TOPMed gnomAD
CA5418060 rs554194985	12	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1443309492 CA376082233	13	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs143355976 COSM916664 CA5418063	14	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA5418064 rs752169129 COSM916665	14	R>H	Variant assessed as Somatic; 0.0 impact. endometrium urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs143355976 CA376082237	14	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5418066 rs375521258	16	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1226849263 CA376082253	16	T>M		No	ClinGen TOPMed gnomAD
rs1226849263 CA376082252	16	T>R		No	ClinGen TOPMed gnomAD
rs1340886584 CA376082271	18	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs777334090 CA5418070	23	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5418073 rs373142031	24	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5418072 rs756889955	24	S>P		No	ClinGen ExAC gnomAD
CA5418075 rs768845700	25	L>F		No	ClinGen ExAC gnomAD
CA203437245 rs111843304	26	N>D		No	ClinGen Ensembl
rs1379470604 CA376082413	28	P>A		No	ClinGen TOPMed gnomAD
CA376082437 rs1472906477	30	I>V		No	ClinGen TOPMed
CA5418077 rs374861978	32	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs772304612 CA5418079	32	R>H		No	ClinGen ExAC
rs1168241041 CA376082458	33	W>R		No	ClinGen gnomAD
TCGA novel	34	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5418082 rs760729358	34	S>R		No	ClinGen ExAC TOPMed gnomAD
rs191796910 CA5418084	35	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs191796910 CA5418083	35	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs764888526 CA5418085	36	L>M		No	ClinGen ExAC gnomAD
rs369278180 CA5418086	37	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1412000968 CA376082482	37	E>Q		No	ClinGen gnomAD
CA5418087 rs138478042	39	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1228217778 CA376082507	40	D>G		No	ClinGen gnomAD
rs1296009577 CA376082512	41	M>V		No	ClinGen gnomAD
CA376082523 rs1350742133	42	H>R		No	ClinGen gnomAD
rs1220338812 CA376082529	43	F>L		No	ClinGen TOPMed gnomAD
CA203437292 rs887130858	43	F>L		No	ClinGen gnomAD
rs1589275162 CA376082536	44	I>V		No	ClinGen Ensembl
CA203437299 rs941603364	46	Q>L		No	ClinGen Ensembl
CA5418089 rs41284459	47	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1302734402 CA376082560	48	L>F		No	ClinGen TOPMed gnomAD
CA5418090 rs751327854	48	L>P		No	ClinGen ExAC gnomAD
rs143960260 CA5418092	51	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA376082584 rs1187748122	51	R>S		No	ClinGen TOPMed gnomAD
CA5418093 rs377046447	53	K>E		No	ClinGen ESP ExAC gnomAD
CA5418094 rs755541255	54	A>T		No	ClinGen ExAC gnomAD
rs1424478976 CA376082602	54	A>V		No	ClinGen gnomAD
CA5418095 rs186655389	55	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5418096 rs200609164	56	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA376082615 rs1389714841	57	L>F		No	ClinGen gnomAD
CA376082623 rs1434795967	58	Q>*		No	ClinGen gnomAD
CA376082622 rs1434795967	58	Q>E		No	ClinGen gnomAD
CA203437353 rs777770905	59	K>N		No	ClinGen ExAC TOPMed gnomAD
rs940023316 CA203437398	60	I>T		No	ClinGen TOPMed gnomAD
rs750418628 CA5418100	61	E>A		No	ClinGen ExAC gnomAD
CA5418099 rs547184579	61	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759349215 CA5418103	62	D>E		No	ClinGen ExAC TOPMed
rs776711730 CA376082648	62	D>N		No	ClinGen ExAC gnomAD
CA5418101 rs776711730 COSM916667	62	D>Y	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1196518808 CA376082671	65	K>*		No	ClinGen TOPMed
rs1269602238 CA376082703	67	N>D		No	ClinGen gnomAD
rs139598044 CA203437460	68	K>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs139598044 CA5418104	68	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775350299 CA5418105	70	P>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	74	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376082830 rs1199477096	75	E>A		No	ClinGen gnomAD
CA376082848 rs1271072961	76	S>G		No	ClinGen TOPMed
CA203437478 rs938948809	76	S>I		No	ClinGen TOPMed gnomAD
rs141142473 CA5418107	77	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	78	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763990360 CA5418108	82	I>V		No	ClinGen ExAC gnomAD
CA5418109 rs374043157	85	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA5418112 rs199667725	86	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA5418111 rs3814171 VAR_051811	86	I>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1412244139 CA376083017	87	S>N		No	ClinGen gnomAD
CA203437533 VAR_023960 rs1052157	88	E>D		No	ClinGen UniProt Ensembl dbSNP
rs569236455 CA5418114	90	L>M		No	ClinGen 1000Genomes ExAC gnomAD
CA376083063 rs1286136132	90	L>P		No	ClinGen TOPMed gnomAD
CA376083085 rs1358199746	91	K>N		No	ClinGen TOPMed gnomAD
rs139408682 CA5418115	92	E>*		No	ClinGen ESP ExAC gnomAD
rs1454815817 CA376083102	92	E>G		No	ClinGen gnomAD
rs758695550 CA5418117	93	K>N		No	ClinGen ExAC TOPMed gnomAD
CA5418116 rs753210924	93	K>T		No	ClinGen ExAC gnomAD
rs144151968 CA5418118	95	T>I		No	ClinGen 1000Genomes ESP TOPMed gnomAD
CA5418121 rs747182566	97	A>S		No	ClinGen ExAC gnomAD
rs771171027 CA5418122	98	K>*		No	ClinGen ExAC
rs1473316194 CA376083250	101	V>A		No	ClinGen TOPMed gnomAD
CA376083246 rs1370459061	101	V>L		No	ClinGen gnomAD
TCGA novel	102	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745950245 CA5418124	102	S>L		No	ClinGen ExAC TOPMed gnomAD
CA376083274 rs1424995317	103	G>E		No	ClinGen TOPMed
rs1456809892 CA376083287	104	W>*		No	ClinGen gnomAD
rs749496880 CA5418125	105	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1032887822 CA203437589	107	A>P		No	ClinGen Ensembl
rs762815478 CA5418127	107	A>V		No	ClinGen ExAC TOPMed gnomAD
rs768522992 CA5418128	108	H>Y		No	ClinGen ExAC gnomAD
CA5418129 rs774319886	109	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs774319886 CA376083358	109	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1354001556 CA376083374	111	K>R		No	ClinGen gnomAD
CA5418132 rs1132078 VAR_023961	114	A>V		No	ClinGen UniProt ExAC dbSNP gnomAD
rs1203169085 CA376083399	115	I>F		No	ClinGen TOPMed gnomAD
rs1203169085 CA376083398	115	I>V		No	ClinGen TOPMed gnomAD
rs758924573 CA5418136	116	G>A		No	ClinGen ExAC TOPMed gnomAD
CA5418135 rs753185172	116	G>S		No	ClinGen ExAC gnomAD
CA5418137 rs778068221 COSM916668	117	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs751887148 CA5418138	118	N>K		No	ClinGen ExAC TOPMed gnomAD
CA5418139 rs757678361	119	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5418141 rs746086036	121	T>A		No	ClinGen ExAC gnomAD
CA203437726 rs772049454	121	T>I		No	ClinGen gnomAD
CA5418142 rs139928020	122	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1380300882 CA376083445	123	A>G		No	ClinGen TOPMed gnomAD
rs150003104 CA5418143	123	A>T		No	ClinGen ESP ExAC
rs749198267 CA5418144	124	L>V		No	ClinGen ExAC gnomAD
CA5418145 rs768684713	125	E>K		No	ClinGen ExAC gnomAD
CA5418146 rs774481311	127	R>K		No	ClinGen ExAC gnomAD
rs1564549766 CA376083498	132	V>L		No	ClinGen Ensembl
rs772853778 CA376083511	134	V>A		No	ClinGen ExAC TOPMed
CA5418149 rs772853778	134	V>G		No	ClinGen ExAC TOPMed
CA376083509 CA203437746 rs941342197	134	V>L		No	ClinGen TOPMed gnomAD
CA5418151 rs765861627	137	S>*		No	ClinGen ExAC gnomAD
CA5418153 rs759083919	138	V>A		No	ClinGen ExAC gnomAD
rs776032729 CA5418152	138	V>I		No	ClinGen ExAC gnomAD
CA5418154 rs764560286	139	K>*		No	ClinGen ExAC TOPMed gnomAD
CA376083567 rs1223669875	143	I>F		No	ClinGen gnomAD
CA203437777 rs1038337633	145	S>*		No	ClinGen Ensembl
CA376083590 CA376083589 rs1178878096	146	H>Q		No	ClinGen gnomAD
CA5418156 rs757553633	148	I>T		No	ClinGen ExAC gnomAD
rs767790323 CA5418157	149	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA5418158 rs750613703	149	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs756322806 CA5418159	150	L>F		No	ClinGen ExAC TOPMed gnomAD
CA5418161 rs749360039	153	S>N		No	ClinGen ExAC gnomAD
CA376083647 rs375720494	155	S>I		No	ClinGen ESP gnomAD
rs375720494 CA203437816	155	S>T		No	ClinGen ESP gnomAD
rs1589275932 CA376083654	156	V>A		No	ClinGen Ensembl
rs755169517 CA5418162	159	C>R		No	ClinGen ExAC gnomAD
rs1261477617 CA376083693	162	P>L		No	ClinGen gnomAD
CA5418163 rs778987259	162	P>S		No	ClinGen ExAC TOPMed gnomAD
rs778987259 CA376083689	162	P>T		No	ClinGen ExAC TOPMed gnomAD
CA5418167 rs370750357	163	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA203437860 rs920011567	163	R>W		No	ClinGen TOPMed gnomAD
rs770458219 CA5418168	164	L>F		No	ClinGen ExAC TOPMed gnomAD
rs776312823 CA5418169	165	S>C		No	ClinGen ExAC TOPMed gnomAD
rs776312823 CA376083703	165	S>G		No	ClinGen ExAC TOPMed gnomAD
CA376083705 rs1433240107	165	S>N		No	ClinGen gnomAD
CA203437881 rs201405215	168	I>V		No	ClinGen 1000Genomes
CA5418172 rs764733426	169	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1564549961 CA376083730	169	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA5418173 rs764733426	169	A>V		No	ClinGen ExAC TOPMed gnomAD
rs762330393 CA376083737	170	P>H		No	ClinGen ExAC TOPMed gnomAD
CA5418174 rs762330393	170	P>L		No	ClinGen ExAC TOPMed gnomAD
rs145237477 CA5418178	171	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145237477 CA5418177	171	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA376083746 rs1295189059	172	I>T		No	ClinGen gnomAD
rs747172388 CA203437961	172	I>V		No	ClinGen TOPMed gnomAD
rs1391430014 CA376083751	173	G>C		No	ClinGen TOPMed gnomAD
rs1473737125 CA376083752	173	G>D		No	ClinGen TOPMed
rs571141054 CA203437962	177	V>F		No	ClinGen Ensembl
rs777424609 CA203437963	178	L>P		No	ClinGen Ensembl
CA5418180 rs373652725	178	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5418181 rs149173426	179	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5418182 rs752628175	180	L>V		No	ClinGen ExAC gnomAD
rs15772 CA376083800	181	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_023962 CA5418183 rs15772	181	A>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs15772 CA5418184	181	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA376083813 rs1266428131	183	K>R		No	ClinGen gnomAD
CA376083826 rs1488417104	185	N>D		No	ClinGen gnomAD
CA5418186 rs372291454	185	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs556577548 CA5418188	186	T>S		No	ClinGen 1000Genomes ExAC
rs1473318458 CA376083839	187	T>A		No	ClinGen TOPMed gnomAD
CA203438029 rs1032711085	190	V>M		No	ClinGen TOPMed
CA5418191 rs762568838	191	D>Y		No	ClinGen ExAC gnomAD
CA376083882 rs1457653250	193	V>E		No	ClinGen TOPMed
CA5418193 rs773830340	194	R>T		No	ClinGen ExAC gnomAD
rs1554818728 CA376083896	195	A>V		No	ClinGen Ensembl
CA5418195 rs565147881	196	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5418196 rs376617328	197	I>V		No	ClinGen ESP ExAC gnomAD
rs1230271782 CA376083932	201	P>R		No	ClinGen gnomAD
rs193084890 CA376083936	202	S>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs193084890 CA203438111	202	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5418198 VAR_051812 rs12249258	202	S>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5418199 rs193084890	202	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752793290 CA5418201	204	S>T		No	ClinGen ExAC gnomAD
CA376083976 rs1479433622	208	L>F		No	ClinGen gnomAD
rs1265605740 CA376083994	210	D>E		No	ClinGen TOPMed
CA376083999 rs1183243196	211	R>K		No	ClinGen gnomAD
rs10242 VAR_029298 CA5418205	212	I>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs762510670	217	E>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs756945942 CA5418208	217	E>K		No	ClinGen ExAC TOPMed gnomAD
rs756945942 CA5418209	217	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs759006449 CA203438178	218	N>D		No	ClinGen gnomAD
CA5418211 rs769410492	221	T>A		No	ClinGen ExAC gnomAD
CA5418212 rs779734454	222	E>V		No	ClinGen ExAC gnomAD
rs748737243 CA5418213	223	P>L		No	ClinGen ExAC gnomAD
rs1352842924 CA376084079	223	P>S		No	ClinGen gnomAD
CA203438218 rs982654226	226	S>G		No	ClinGen TOPMed gnomAD
rs1589276444 CA376084102	227	Q>*		No	ClinGen Ensembl
rs1219842893 CA376084111	228	D>H		No	ClinGen TOPMed
CA5418215 rs768281031	229	R>G		No	ClinGen ExAC gnomAD
CA376084119 rs1300419948 COSM1187898	229	R>K	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1300419948 CA376084120	229	R>T		No	ClinGen gnomAD
TCGA novel	230	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	230	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773523035 CA5418216	230	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1004692072 CA203438250	231	L>P		No	ClinGen TOPMed
rs761255084 CA5418217	232	L>*		No	ClinGen ExAC gnomAD
CA376084155 rs1564550318	234	T>I		No	ClinGen Ensembl
CA376084150 rs1305273107	234	T>P		No	ClinGen gnomAD
rs1181471629 CA376084163	236	F>L		No	ClinGen gnomAD
rs145152071 CA5418220	236	F>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA203438277 rs11594277	239	L>P		No	ClinGen Ensembl
rs1169682102 CA376084193	240	S>*		No	ClinGen TOPMed
CA376084215 rs1417442865	243	K>N		No	ClinGen gnomAD
CA203438284 rs868311782	244	R>G		No	ClinGen Ensembl
rs1374661201 CA376084224	245	K>E		No	ClinGen TOPMed
CA5418222 rs765534079	245	K>R		No	ClinGen ExAC TOPMed gnomAD
CA5418223 rs753019590	246	L>F		No	ClinGen ExAC gnomAD
rs150252368 CA376084246	248	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA203438317 rs377071911	248	D>H		No	ClinGen Ensembl
rs974038287 CA203438345	249	G>D		No	ClinGen TOPMed
rs764248783 CA5418225	249	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs34040166 VAR_051813 CA5418226	250	R>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs562959917 CA5418229	250	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs34040166 CA5418228	250	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1702085 CA376084262 rs1482404152	252	A>T	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs755965550 CA5418230	252	A>V		No	ClinGen ExAC TOPMed gnomAD
rs912828805 CA203438379	254	V>I		No	ClinGen Ensembl
rs1554818794 CA376084282	255	T>K		No	ClinGen Ensembl
CA376084303 rs1303469594	258	P>L		No	ClinGen TOPMed
rs748977336 CA5418232	259	L>F		No	ClinGen ExAC gnomAD
rs1564550518 CA376084322	261	I>T		No	ClinGen Ensembl
CA5418234 rs754385395	262	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1322346773 CA376084368	268	P>S		No	ClinGen gnomAD
CA376084373 rs1330435131	269	N>D		No	ClinGen TOPMed
CA376084382 rs1447179544	270	K>*		No	ClinGen TOPMed
CA376084384 rs1157641918	270	K>R		No	ClinGen gnomAD
CA376084392 rs1465223911	271	I>K		No	ClinGen gnomAD
CA5418237 rs778504574	271	I>M		No	ClinGen ExAC gnomAD
rs1465223911 CA376084391	271	I>R		No	ClinGen gnomAD
rs530655020 CA203438508	274	P>L		No	ClinGen ExAC TOPMed gnomAD
rs530655020 CA5418238	274	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1479034652 CA376084414	275	P>A		No	ClinGen TOPMed gnomAD
rs1191797148 CA376084418	275	P>L		No	ClinGen gnomAD
rs1479034652 CA376084415	275	P>S		No	ClinGen TOPMed gnomAD
CA376084425 rs1465458241	276	K>N		No	ClinGen TOPMed
rs771530138 CA5418239	278	K>N		No	ClinGen ExAC gnomAD
rs777326656 CA5418240	279	K>N		No	ClinGen ExAC gnomAD
rs746219631 CA376084453	280	A>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	280	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1161666726 CA376084449	280	A>T		No	ClinGen gnomAD
CA5418241 rs746219631	280	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1437437762 CA376084454	281	T>P		No	ClinGen TOPMed
rs1316813821 CA376084461	282	P>A		No	ClinGen gnomAD
CA203438536 rs762584543	283	K>E		No	ClinGen Ensembl

No associated diseases with P78345

1 regional properties for P78345

Type	Name	Position	InterPro Accession
domain	Ribosomal protein L7Ae/L30e/S12e/Gadd45	101 - 186	IPR004038

Functions

		Description
EC Number
Subcellular Localization	Nucleus, nucleolus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
fibrillar center	A structure found most metazoan nucleoli, but not usually found in lower eukaryotes; surrounded by the dense fibrillar component; the zone of transcription from multiple copies of the pre-rRNA genes is in the border region between these two structures.
multimeric ribonuclease P complex	A ribonuclease P complex that generally contains a single RNA molecule and several protein molecules. Examples of this complex are found in Archaeal species.
nucleolar ribonuclease P complex	A ribonuclease P complex located in the nucleolus of a eukaryotic cell, where it catalyzes the 5' endonucleolytic cleavage of precursor tRNAs to yield mature tRNAs. Eukaryotic nucleolar ribonuclease P complexes generally contain a single RNA molecule that is necessary but not sufficient for catalysis, and several protein molecules.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
ribonuclease MRP complex	A ribonucleoprotein complex that contains an RNA molecule of the snoRNA family, and cleaves the rRNA precursor as part of rRNA transcript processing. It also has other roles: In S. cerevisiae it is involved in cell cycle-regulated degradation of daughter cell-specific mRNAs, while in mammalian cells it also enters the mitochondria and processes RNAs to create RNA primers for DNA replication.

2 GO annotations of molecular function

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

2 GO annotations of biological process

Name	Definition
rRNA processing	Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules.
tRNA 5'-leader removal	Generation of the mature 5'-end of the tRNA, usually via an endonucleolytic cleavage by RNase P.

No homologous proteins in AiPD

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

10	20	30	40	50	60
MAAAPQAPGR	GSLRKTRPLV	VKTSLNNPYI	IRWSALESED	MHFILQTLED	RLKAIGLQKI
70	80	90	100	110	120
EDKKKKNKTP	FLKKESREKC	SIAVDISENL	KEKKTDAKQQ	VSGWTPAHVR	KQLAIGVNEV
130	140	150	160	170	180
TRALERRELL	LVLVCKSVKP	AMITSHLIQL	SLSRSVPACQ	VPRLSERIAP	VIGLKCVLAL
190	200	210	220	230	240
AFKKNTTDFV	DEVRAIIPRV	PSLSVPWLQD	RIEDSGENLE	TEPLESQDRE	LLDTSFEDLS
250	260	270	280
KPKRKLADGR	QASVTLQPLK	IKKLIPNPNK	IRKPPKSKKA	TPK