AiPD: Autoinhibited Protein Database

Q15050

Gene name	RRS1 (KIAA0112, RRR)
Protein name	Ribosome biogenesis regulatory protein homolog
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23212
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-49 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-49 (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

14 structures for Q15050

Entry ID	Method	Resolution	Chain	Position	Source
8FKP	EM	285 A	ST	1-365	PDB
8FKQ	EM	276 A	ST	1-365	PDB
8FKR	EM	289 A	ST	1-365	PDB
8FKS	EM	288 A	ST	1-365	PDB
8FKT	EM	281 A	ST	1-365	PDB
8FKU	EM	282 A	ST	1-365	PDB
8FKV	EM	247 A	ST	1-365	PDB
8FKW	EM	250 A	ST	1-365	PDB
8FKX	EM	259 A	ST	1-365	PDB
8FKY	EM	267 A	ST	1-365	PDB
8FL0	EM	291 A	ST	1-365	PDB
8IR1	EM	330 A	R	1-365	PDB
8IR3	EM	350 A	R	1-365	PDB
AF-Q15050-F1	Predicted				AlphaFoldDB

348 variants for Q15050

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA4766253 rs759783495	2	E>K		No	ClinGen ExAC gnomAD
rs759783495 CA4766254	2	E>Q		No	ClinGen ExAC gnomAD
CA4766255 rs775696154	3	G>S		No	ClinGen ExAC gnomAD
rs3739334 CA371350754	4	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374676415 CA4766257	4	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA4766259 rs762030371	5	S>G		No	ClinGen ExAC gnomAD
rs765609566 CA4766260	6	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1271149397 CA371350782	6	V>L		No	ClinGen gnomAD
CA371350777 rs1271149397	6	V>M		No	ClinGen gnomAD
TCGA novel	7	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA178438134 rs952453537	7	E>Q		No	ClinGen Ensembl
CA178438140 rs1031814983	8	E>K		No	ClinGen TOPMed
CA4766262 rs199546938	10	L>F		No	ClinGen ExAC TOPMed gnomAD
CA4766263 rs779742457	12	K>R		No	ClinGen ExAC gnomAD
rs1235336576 CA371350839	15	Q>K		No	ClinGen TOPMed
CA371350854 rs1192132712	16	D>E		No	ClinGen gnomAD
CA4766266 rs781067852	17	E>D		No	ClinGen ExAC TOPMed gnomAD
rs754492551 COSM3834913 CA371350855	17	E>K	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs754492551 CA4766265	17	E>Q		No	ClinGen ExAC gnomAD
CA371350867 rs1174146775	19	E>K		No	ClinGen gnomAD
rs1174146775 CA371350868	19	E>Q		No	ClinGen gnomAD
CA371350879 rs1287751292	20	K>R		No	ClinGen TOPMed
CA371350878 rs1287751292	20	K>T		No	ClinGen TOPMed
CA4766268 rs769669969	22	Q>P		No	ClinGen ExAC gnomAD
rs1470338466 CA371350915	25	T>M		No	ClinGen gnomAD
CA4766271 rs749093852	26	V>L		No	ClinGen ExAC TOPMed gnomAD
CA4766270 rs749093852	26	V>M		No	ClinGen ExAC TOPMed gnomAD
CA371350923 rs1381883237	27	H>P		No	ClinGen gnomAD
CA371350929 rs1319340797	28	K>E		No	ClinGen TOPMed gnomAD
rs775859459 CA4766273	28	K>N		No	ClinGen ExAC TOPMed gnomAD
CA4766274 rs375178198	29	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA4766276 rs762347986	32	L>P		No	ClinGen ExAC TOPMed gnomAD
CA4766277 rs765734494	33	Q>L		No	ClinGen ExAC gnomAD
rs1257259867 CA371350975	35	D>H		No	ClinGen gnomAD
CA178438279 rs867587737	37	G>S		No	ClinGen TOPMed gnomAD
rs1263511155 CA371350996	38	N>S		No	ClinGen gnomAD
CA4766278 rs116590536	39	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1197087839 CA371351014	41	A>V		No	ClinGen gnomAD
rs1268095631 CA371351018	42	S>L		No	ClinGen gnomAD
CA178438336 rs890562662	43	D>E		No	ClinGen gnomAD
rs751244628 CA4766281	43	D>H		No	ClinGen ExAC gnomAD
CA371351030 rs1159343823	44	R>Q		No	ClinGen gnomAD
CA4766283 rs140840609	44	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1563482004 CA371351036	45	N>I		No	ClinGen Ensembl
CA4766286 rs536702091	45	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA371351034 rs1563482004	45	N>T		No	ClinGen Ensembl
CA4766287 rs777583115	46	P>T		No	ClinGen ExAC gnomAD
CA371351046 rs749044838	47	P>L		No	ClinGen ExAC gnomAD
rs749044838 CA4766288	47	P>Q		No	ClinGen ExAC gnomAD
rs749044838 CA371351047	47	P>R		No	ClinGen ExAC gnomAD
rs757149111 CA4766289	48	T>A		No	ClinGen ExAC gnomAD
rs1302714166 CA371351051	48	T>I		No	ClinGen TOPMed gnomAD
rs780371153 CA4766290	49	G>R		No	ClinGen ExAC TOPMed gnomAD
CA4766291 rs367878265	50	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA371351064 rs1328281440	51	R>Q		No	ClinGen TOPMed
rs769038085 CA4766292	52	C>R		No	ClinGen ExAC TOPMed gnomAD
CA371351076 rs1219897348	53	A>T		No	ClinGen gnomAD
CA371351081 rs1276021436	54	G>R		No	ClinGen gnomAD
CA4766294 rs748238240	55	P>H		No	ClinGen ExAC TOPMed gnomAD
rs770280890 CA4766295	56	T>K		No	ClinGen ExAC gnomAD
rs1179409718 CA371351102	58	E>K		No	ClinGen TOPMed gnomAD
CA371351111 rs1382329222	59	A>P		No	ClinGen gnomAD
CA178438469 rs11556131	60	E>*		No	ClinGen Ensembl
rs774747447 CA4766299	62	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA371351147 rs1296937019	65	A>P		No	ClinGen TOPMed gnomAD
rs1296937019 CA371351146	65	A>T		No	ClinGen TOPMed gnomAD
CA371351151 rs1396492828	65	A>V		No	ClinGen gnomAD
CA371351152 rs1390311163	66	R>G		No	ClinGen gnomAD
rs1003908775 CA178438489	66	R>Q		No	ClinGen TOPMed gnomAD
CA178438497 rs1032280451	68	N>S		No	ClinGen TOPMed gnomAD
rs1322074711 CA371351192	72	L>V		No	ClinGen gnomAD
CA371351196 rs761755888	73	I>L		No	ClinGen TOPMed gnomAD
rs761755888 CA178438507	73	I>V		No	ClinGen TOPMed gnomAD
CA371351207 rs1586417825	74	N>S		No	ClinGen Ensembl
rs759159589 CA4766300	75	Q>*		No	ClinGen ExAC gnomAD
rs1199287392 CA371351213	75	Q>R		No	ClinGen TOPMed gnomAD
CA371351233 rs1346289294	78	Q>*		No	ClinGen TOPMed
CA371351242 rs1586417853	79	L>P		No	ClinGen Ensembl
CA178438515 rs868431619	80	P>S		No	ClinGen TOPMed
rs1442180046 CA371351267	83	R>P		No	ClinGen TOPMed
CA178438543 rs970465469	84	V>A		No	ClinGen TOPMed gnomAD
rs1414861225 CA371351275	85	E>Q		No	ClinGen gnomAD
CA4766302 rs556647477	86	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1425913950 CA371351283	86	E>K		No	ClinGen gnomAD
CA371351299 rs1372944331	88	I>T		No	ClinGen gnomAD
rs1021380760 CA178438571	89	V>G		No	ClinGen TOPMed
CA4766303 rs755582456	89	V>M		No	ClinGen ExAC gnomAD
rs1331381846 CA371351322	90	A>V		No	ClinGen gnomAD
CA178438583 rs964388256	95	P>S		No	ClinGen TOPMed
CA371351448 rs959600407	98	R>C		No	ClinGen gnomAD
CA4766305 rs753741684	98	R>H		No	ClinGen ExAC TOPMed gnomAD
CA178438590 rs959600407	98	R>S		No	ClinGen gnomAD
CA371351480 rs1454600164	99	L>R		No	ClinGen TOPMed
rs990041568 CA178438606	102	E>D		No	ClinGen Ensembl
CA371351544 rs1185046819	103	K>E		No	ClinGen TOPMed
CA4766306 rs757304705	104	P>A		No	ClinGen ExAC TOPMed gnomAD
CA4766307 rs375781629	104	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA371351575 rs757304705	104	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1259964901 CA371351591	105	L>V		No	ClinGen gnomAD
TCGA novel	106	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745721641 CA4766308	107	R>*		No	ClinGen ExAC
rs755241117 CA4766309	109	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1203179385 CA371351675	109	R>W		No	ClinGen gnomAD
rs781286076 CA4766310	111	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1235629048 CA371351758	113	R>G		No	ClinGen TOPMed
rs1185088638 CA371351773	113	R>P		No	ClinGen gnomAD
rs369081320 CA4766311	115	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA371351818 rs369081320	115	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA4766312 CA4766313 VAR_051887 rs34077648	116	Q>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1212475856 CA371351865	117	F>L		No	ClinGen TOPMed
CA4766314 rs749773436	117	F>S		No	ClinGen ExAC gnomAD
CA371351901 rs1586418027	118	A>V		No	ClinGen Ensembl
CA178438699 rs944772618	120	L>P		No	ClinGen gnomAD
CA178438717 rs1039173487	121	K>R		No	ClinGen Ensembl
CA4766315 rs771469635	122	G>D		No	ClinGen ExAC TOPMed gnomAD
rs759905677 CA4766317	124	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs767087785 CA4766318	124	R>H		No	ClinGen ExAC TOPMed gnomAD
CA4766319 rs775036720	125	P>L		No	ClinGen ExAC
CA371352077 rs1280003860	126	K>*		No	ClinGen gnomAD
VAR_051888 CA4766321 rs3739335	126	K>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA178438795 rs973607212	127	K>E		No	ClinGen TOPMed gnomAD
rs1405533235 CA371352113	127	K>N		No	ClinGen TOPMed gnomAD
rs753424141 CA4766323	128	K>E		No	ClinGen ExAC TOPMed gnomAD
CA4766324 rs761834831	128	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1213866098 CA371352153	129	T>N		No	ClinGen gnomAD
CA371352172 rs1181496351	130	N>D		No	ClinGen TOPMed
rs779256972 CA178438814	131	L>V		No	ClinGen gnomAD
CA371352195 rs1474292337	132	V>M		No	ClinGen TOPMed
CA178438825 rs1048687776	135	E>D		No	ClinGen Ensembl
rs765320979 CA4766325	135	E>Q		No	ClinGen ExAC gnomAD
CA4766326 rs750187083	136	V>A		No	ClinGen ExAC
CA371352277 rs1267301936	137	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1586418132 CA371352303	139	Q>*		No	ClinGen Ensembl
rs888389872 CA178438849	141	R>Q		No	ClinGen TOPMed
rs758275546 CA4766327	142	R>G		No	ClinGen ExAC gnomAD
rs1425299996 CA371352355	142	R>L		No	ClinGen gnomAD
rs758275546 CA371352349	142	R>W		No	ClinGen ExAC gnomAD
rs781438832 CA4766329	143	R>G		No	ClinGen ExAC gnomAD
CA4766330 rs756408282	143	R>H		No	ClinGen ExAC TOPMed gnomAD
CA4766331 rs756408282	143	R>P		No	ClinGen ExAC TOPMed gnomAD
rs781438832 CA4766328	143	R>S		No	ClinGen ExAC gnomAD
CA4766333 rs771416381	146	Y>H		No	ClinGen ExAC gnomAD
CA178438938 rs1003483738	147	Q>P		No	ClinGen Ensembl
rs1435706351 CA371352430	148	R>H		No	ClinGen TOPMed gnomAD
rs1435706351 CA371352434	148	R>L		No	ClinGen TOPMed gnomAD
CA4766335 rs746189749	149	A>P		No	ClinGen ExAC gnomAD
CA4766336 rs772344805	151	D>G		No	ClinGen ExAC TOPMed gnomAD
CA371352498 rs1222192827	153	T>S		No	ClinGen gnomAD
CA4766338 rs760209677	154	K>E		No	ClinGen ExAC gnomAD
rs1323110515 CA371352511	154	K>R		No	ClinGen gnomAD
CA4766339 rs768419722	155	E>D		No	ClinGen ExAC gnomAD
TCGA novel	157	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4766341 rs761424276	158	I>T		No	ClinGen ExAC gnomAD
TCGA novel	158	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765202720 CA4766342	160	V>L		No	ClinGen ExAC gnomAD
CA371352618 rs1366425609	162	G>R		No	ClinGen TOPMed gnomAD
rs564158290 CA4766346	163	N>I		No	ClinGen ExAC TOPMed gnomAD
rs1033417988 CA178439028	163	N>K		No	ClinGen Ensembl
CA4766345 rs564158290	163	N>S		No	ClinGen ExAC TOPMed gnomAD
CA4766347 rs756288003	164	A>V		No	ClinGen ExAC gnomAD
CA4766348 rs573123921	165	D>H		No	ClinGen 1000Genomes ExAC gnomAD
CA371352643 rs753847467	166	P>H		No	ClinGen ExAC gnomAD
rs753847467 CA4766349	166	P>L		No	ClinGen ExAC gnomAD
CA4766351 rs541846566	169	D>E		No	ClinGen 1000Genomes ExAC gnomAD
CA371352673 rs1351611866	170	Q>H		No	ClinGen TOPMed gnomAD
rs1440024233 CA371352685	172	A>S		No	ClinGen gnomAD
rs111453020 CA4766352	173	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4766354 rs377307457	174	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4766353 rs377307457	174	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4766356 rs200841965	175	I>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1313239808 CA371352713	177	A>T		No	ClinGen gnomAD
rs776429488 CA4766357	180	E>K		No	ClinGen ExAC gnomAD
CA371352744 rs1292640255	181	R>K		No	ClinGen gnomAD
CA4766358 rs761370518	181	R>S		No	ClinGen ExAC gnomAD
CA371352753 rs1586418306	182	V>E		No	ClinGen Ensembl
rs1460030634 CA371352750	182	V>L		No	ClinGen TOPMed
CA371352757 rs1201756054	183	A>D		No	ClinGen gnomAD
rs769455046 CA4766359	184	K>R		No	ClinGen ExAC gnomAD
CA4766360 rs771689348	185	N>S		No	ClinGen ExAC gnomAD
rs771689348 CA371352770	185	N>T		No	ClinGen ExAC gnomAD
CA371352797 rs1188668375	189	R>Q		No	ClinGen TOPMed
CA371352804 rs1163624580	190	L>R		No	ClinGen gnomAD
rs1419017734 CA371352807	191	R>C		No	ClinGen TOPMed
CA4766362 rs3739336	191	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_020484 CA4766361 rs3739336	191	R>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs759391374 CA4766364	193	L>V		No	ClinGen ExAC TOPMed gnomAD
CA178439140 rs966066974	194	A>S		No	ClinGen TOPMed
CA371352824 rs1449154524	194	A>V		No	ClinGen gnomAD
rs754079867 CA4766366	195	R>G		No	ClinGen ExAC gnomAD
rs1245902553 CA371352828	195	R>H		No	ClinGen gnomAD
rs757522975 CA4766367	196	A>V		No	ClinGen ExAC TOPMed gnomAD
rs750564103 CA4766369	197	H>L		No	ClinGen ExAC gnomAD
CA371352852 rs1233298139	197	H>Q		No	ClinGen TOPMed
rs750564103 CA371352847	197	H>R		No	ClinGen ExAC gnomAD
CA178439150 rs995866327	198	K>E		No	ClinGen TOPMed
rs758815406 CA4766370	198	K>R		No	ClinGen ExAC gnomAD
CA178439173 rs1048238676	199	M>T		No	ClinGen TOPMed gnomAD
CA371352905 rs1393046253	200	Q>P		No	ClinGen TOPMed
rs1369913603 CA371352958	203	S>R		No	ClinGen gnomAD
CA4766372 rs747273481	204	A>V		No	ClinGen ExAC gnomAD
rs1441497528 CA371352987	205	A>G		No	ClinGen gnomAD
rs1373816440 CA371352981	205	A>S		No	ClinGen TOPMed
rs1373816440 CA371352976	205	A>T		No	ClinGen TOPMed
rs1441497528 CA371352984	205	A>V		No	ClinGen gnomAD
rs758688656 CA178439206	206	G>C		No	ClinGen TOPMed
CA4766373 rs755405055	206	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1563482424 CA371353006	207	L>*		No	ClinGen Ensembl
rs780947403 CA4766374	209	P>L		No	ClinGen ExAC gnomAD
CA371353056 rs1169844316	210	T>A	Variant assessed as Somatic; 4.677e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA371353060 rs772845139 CA4766377	211	G>R		No	ClinGen ExAC TOPMed gnomAD
rs770717866 CA371353079	213	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs774374658 CA4766380	214	S>N		No	ClinGen ExAC
CA371353094 rs1336517042	215	K>N		No	ClinGen gnomAD
TCGA novel	216	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1162080576 CA371353113	218	L>V		No	ClinGen TOPMed gnomAD
rs137894990 CA371353139	222	M>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs137894990 CA4766383	222	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA371353136 rs1213900424	222	M>V		No	ClinGen TOPMed
rs762014780 CA4766385	224	V>E		No	ClinGen ExAC gnomAD
rs1586418527 CA371353173	227	V>G		No	ClinGen Ensembl
CA371353182 rs1586418533	229	T>P		No	ClinGen Ensembl
rs1003185529 CA178439299	231	S>F		No	ClinGen Ensembl
rs1200644026 CA371353204	232	V>A		No	ClinGen TOPMed gnomAD
rs1200644026 CA371353202	232	V>G		No	ClinGen TOPMed gnomAD
rs1343798813 CA371353199	232	V>M		No	ClinGen gnomAD
rs750408809 CA4766387	234	R>H		No	ClinGen ExAC gnomAD
CA4766389 rs766759019	235	F>L		No	ClinGen ExAC gnomAD
CA4766391 rs3739337 CA178439331	237	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA371353245 rs1196790152	239	L>F		No	ClinGen gnomAD
CA4766392 rs144403420	240	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148788428 CA371353258	241	K>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs148788428 CA4766393	241	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs777583978 CA4766395	242	E>D		No	ClinGen ExAC TOPMed gnomAD
rs755815709 CA4766394	242	E>K		No	ClinGen ExAC
CA371353300 rs1383155367	244	V>A		No	ClinGen TOPMed gnomAD
rs1381840524 CA371353294	244	V>L		No	ClinGen TOPMed
CA4766396 rs373983355	246	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA371353336 rs1403669607	247	G>V		No	ClinGen gnomAD
TCGA novel	248	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770495459 CA4766397	249	G>D		No	ClinGen ExAC gnomAD
rs999684768 CA178439360	249	G>R		No	ClinGen TOPMed
rs938670133 CA178439388	251	K>E		No	ClinGen TOPMed
rs1233413724 CA371353424	253	K>N		No	ClinGen gnomAD
rs773780982 CA4766398	254	F>C		No	ClinGen ExAC gnomAD
CA371353459 rs1053489030	255	Q>H		No	ClinGen TOPMed gnomAD
CA371353457 rs1351060284	255	Q>L		No	ClinGen gnomAD
CA4766399 rs745786581	257	L>I		No	ClinGen ExAC gnomAD
TCGA novel	257	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA178439436 rs1019239000	260	D>Y		No	ClinGen gnomAD
CA371353566 rs1586418674	262	A>V		No	ClinGen Ensembl
rs1433835037 CA371353582	264	E>K		No	ClinGen gnomAD
TCGA novel	264	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4766402 rs576557105	267	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA4766401 rs144551617 RCV000953266	267	N>Y		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4766403 rs760473657	268	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA371353666 rs1279604596	268	Q>H		No	ClinGen TOPMed
CA371353662 rs1488325649	268	Q>L		No	ClinGen TOPMed
CA4766404 rs769933946	270	E>K		No	ClinGen ExAC gnomAD
rs1029382194 CA178439492	271	L>V		No	ClinGen gnomAD
rs1386782117 CA371353712	272	L>F		No	ClinGen gnomAD
COSM3779309 rs766463381 CA4766407	273	R>C	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs36125898 CA4766408	274	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4766410 rs760116950 CA371353755	275	M>I		No	ClinGen ExAC gnomAD
CA371353744 rs1563482577	275	M>V		No	ClinGen Ensembl
CA371353792 rs1242419847	277	S>R		No	ClinGen gnomAD
CA371353798 rs1264715418	278	K>E		No	ClinGen gnomAD
rs753055015 CA4766412	278	K>R		No	ClinGen ExAC TOPMed gnomAD
CA371353839 rs1211661581	281	Q>K		No	ClinGen gnomAD
CA371353873 rs1297830566	283	D>G		No	ClinGen TOPMed
CA4766413 rs139651821	283	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA371353915 rs1179469311	286	R>K		No	ClinGen gnomAD
CA371353949 rs777240236	288	T>I		No	ClinGen ExAC TOPMed gnomAD
CA4766414 rs777240236	288	T>S		No	ClinGen ExAC TOPMed gnomAD
CA178439592 rs972521159	290	K>E		No	ClinGen TOPMed gnomAD
CA4766415 rs753505716	290	K>M		No	ClinGen ExAC gnomAD
CA4766416 rs756898946	291	Q>H		No	ClinGen ExAC gnomAD
CA178439611 rs867285348	291	Q>K		No	ClinGen Ensembl
CA371354064 rs778481796	293	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1166419655 CA371354075	294	E>Q		No	ClinGen gnomAD
rs762673475 CA4766420	296	D>E		No	ClinGen ExAC TOPMed gnomAD
rs115935831 CA4766418 RCV000880728	296	D>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs200762868 CA4766421	297	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA371354224 rs1182281678	298	E>G		No	ClinGen gnomAD
rs776114996 CA371354207	298	E>K		No	ClinGen Ensembl
rs776114996 CA178439670	298	E>Q		No	ClinGen Ensembl
CA4766425 rs771126397	301	A>S		No	ClinGen ExAC TOPMed gnomAD
CA371354297 rs771126397	301	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	301	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371354325 rs1246858782	302	K>*		No	ClinGen gnomAD
CA371354319 rs1246858782	302	K>Q		No	ClinGen gnomAD
rs1486588421 CA371354351	303	R>K		No	ClinGen TOPMed
rs200032631 CA4766426	303	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	304	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	306	M>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs995143466 CA178439689	308	Q>*		No	ClinGen TOPMed gnomAD
rs768073811 CA4766428	310	G>D		No	ClinGen ExAC gnomAD
rs575683969 CA4766429	311	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA371354630 rs1337182959	315	G>S		No	ClinGen TOPMed
rs1425971751 CA371354636	316	R>W		No	ClinGen gnomAD
rs1563482682 CA371354640	317	Q>K		No	ClinGen Ensembl
rs764485590 CA4766432	318	G>E		No	ClinGen ExAC gnomAD
CA371354648 rs1272212036	318	G>R		No	ClinGen TOPMed
rs1043898691 CA178439763	319	P>R		No	ClinGen TOPMed gnomAD
rs1291473243 CA371354662	320	G>R		No	ClinGen TOPMed
CA371354685 rs34974332	321	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4766435 rs34974332	321	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749867241 CA4766438	323	R>K		No	ClinGen ExAC gnomAD
CA4766439 rs757933568	325	G>R		No	ClinGen ExAC gnomAD
CA371354766 rs1563482718	326	G>A		No	ClinGen Ensembl
CA4766441 rs745359046	326	G>R		No	ClinGen ExAC TOPMed gnomAD
CA4766440 rs745359046	326	G>S		No	ClinGen ExAC TOPMed gnomAD
rs769712999	327	P>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA371354787 rs1209628966	327	P>L		No	ClinGen TOPMed gnomAD
rs1256831676 CA371354805	329	S>G		No	ClinGen gnomAD
CA4766443 rs768621634	329	S>T		No	ClinGen ExAC gnomAD
CA4766444 rs781036590	330	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1563482730 CA371354832	330	Q>H		No	ClinGen Ensembl
CA371354858 rs1185068596	332	G>E		No	ClinGen TOPMed
rs149763981 CA4766446	332	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA4766447 rs774444922	333	K>N		No	ClinGen ExAC gnomAD
rs1430976457 CA371354942	337	G>D		No	ClinGen TOPMed gnomAD
rs1430976457 CA371354937	337	G>V		No	ClinGen TOPMed gnomAD
rs1019100921 CA178439950	340	G>D		No	ClinGen TOPMed gnomAD
rs1359387707 CA371354974	340	G>S		No	ClinGen gnomAD
CA4766449 rs767756344	342	M>T		No	ClinGen ExAC TOPMed gnomAD
CA371355005 rs1359800414	342	M>V		No	ClinGen gnomAD
rs1271888240 CA371355018	343	N>T		No	ClinGen gnomAD
rs775749259 CA4766450	344	S>C		No	ClinGen ExAC gnomAD
TCGA novel	344	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775749259 CA4766451	344	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA371355031 rs1199544570	345	G>A		No	ClinGen TOPMed
rs764563738 CA371355037	346	P>L		No	ClinGen ExAC gnomAD
rs764563738 CA4766452	346	P>R		No	ClinGen ExAC gnomAD
rs776996097 CA4766453	348	G>A		No	ClinGen ExAC TOPMed gnomAD
rs762087698 CA371355054	349	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1314228482 CA371355049	349	L>V		No	ClinGen gnomAD
TCGA novel	350	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4766456 rs750096533	351	G>A		No	ClinGen ExAC TOPMed gnomAD
rs374511161 CA4766459	354	K>R		No	ClinGen ESP ExAC gnomAD
rs751138161 CA4766460	356	G>A		No	ClinGen ExAC TOPMed gnomAD
CA4766461 rs751138161	356	G>E		No	ClinGen ExAC TOPMed gnomAD
rs369943218 CA178440010	356	G>R		No	ClinGen TOPMed
CA371355108 rs1329914693	358	R>C		No	ClinGen TOPMed
rs1190198691 CA371355111	358	R>H		No	ClinGen gnomAD
rs1447066494 CA371355142	363	R>K		No	ClinGen TOPMed
CA4766462 rs781009337	364	R>K		No	ClinGen ExAC TOPMed gnomAD
rs952184203 CA178440065	366	K>K		No	ClinGen TOPMed gnomAD
rs1277847768 CA371355163	366	K>Y		No	ClinGen TOPMed gnomAD

No associated diseases with Q15050

No regional properties for Q15050

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q15050

Functions

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

5 GO annotations of cellular component

Name	Definition
condensed nuclear chromosome	A highly compacted molecule of DNA and associated proteins resulting in a cytologically distinct nuclear chromosome.
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
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.
preribosome, large subunit precursor	A preribosomal complex consisting of 27SA, 27SB, and/or 7S pre-rRNA, 5S rRNA, ribosomal proteins including late-associating large subunit proteins, and associated proteins; a precursor of the eukaryotic cytoplasmic large ribosomal subunit.

2 GO annotations of molecular function

Name	Definition
5S rRNA binding	Binding to a 5S ribosomal RNA, the smallest RNA constituent of a ribosome.
RNA binding	Binding to an RNA molecule or a portion thereof.

8 GO annotations of biological process

Name	Definition
endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	Endonucleolytic cleavage between the SSU-rRNA and the 5.8S rRNA of an rRNA molecule originally produced as a tricistronic rRNA transcript that contained the Small SubUnit (SSU) rRNA, the 5.8S rRNA, and the Large SubUnit (LSU) rRNA, in that order, from 5' to 3' along the primary transcript.
hematopoietic progenitor cell differentiation	The process in which precursor cell type acquires the specialized features of a hematopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells.
mitotic metaphase plate congression	The cell cycle process in which chromosomes are aligned at the metaphase plate, a plane halfway between the poles of the mitotic spindle, during mitosis.
protein localization to nucleolus	A process in which a protein is transported to, or maintained in, a location within a nucleolus.
regulation of signal transduction by p53 class mediator	Any process that modulates the frequency, rate or extent of signal transduction by p53 class mediator.
ribosomal large subunit assembly	The aggregation, arrangement and bonding together of constituent RNAs and proteins to form the large ribosomal subunit.
ribosomal large subunit biogenesis	A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a large ribosomal subunit; includes transport to the sites of protein synthesis.
ribosomal large subunit export from nucleus	The directed movement of a ribosomal large subunit from the nucleus into the cytoplasm.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q2KIH4	RRS1	Ribosome biogenesis regulatory protein homolog	Bos taurus (Bovine)	PR
Q9CYH6	Rrs1	Ribosome biogenesis regulatory protein homolog	Mus musculus (Mouse)	PR
A1A5P2	Rrs1	Ribosome biogenesis regulatory protein homolog	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MEGQSVEELL	AKAEQDEAEK	LQRITVHKEL	ELQFDLGNLL	ASDRNPPTGL	RCAGPTPEAE
70	80	90	100	110	120
LQALARDNTQ	LLINQLWQLP	TERVEEAIVA	RLPEPTTRLP	REKPLPRPRP	LTRWQQFARL
130	140	150	160	170	180
KGIRPKKKTN	LVWDEVSGQW	RRRWGYQRAR	DDTKEWLIEV	PGNADPLEDQ	FAKRIQAKKE
190	200	210	220	230	240
RVAKNELNRL	RNLARAHKMQ	LPSAAGLHPT	GHQSKEELGR	AMQVAKVSTA	SVGRFQERLP
250	260	270	280	290	300
KEKVPRGSGK	KRKFQPLFGD	FAAEKKNQLE	LLRVMNSKKP	QLDVTRATNK	QMREEDQEEA
310	320	330	340	350	360
AKRRKMSQKG	KRKGGRQGPG	GKRKGGPPSQ	GGKRKGGLGG	KMNSGPPGLG	GKRKGGQRPG

GKRRK