AiPD: Autoinhibited Protein Database

Q96EH3

Gene name	MALSU1 (C7orf30)
Protein name	Mitochondrial assembly of ribosomal large subunit protein 1
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:115416
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

36-118 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

36-118 (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

28 structures for Q96EH3

Entry ID	Method	Resolution	Chain	Position	Source
5OOL	EM	306 A	u	1-234	PDB
5OOM	EM	303 A	u	1-234	PDB
7A5H	EM	330 A	u	1-234	PDB
7A5J	EM	310 A	u	1-234	PDB
7O9K	EM	310 A	u	1-234	PDB
7O9M	EM	250 A	u	1-234	PDB
7ODR	EM	290 A	u	1-234	PDB
7ODS	EM	310 A	u	1-234	PDB
7ODT	EM	310 A	u	1-234	PDB
7OF0	EM	220 A	u	1-234	PDB
7OF2	EM	270 A	u	1-234	PDB
7OF3	EM	270 A	u	1-234	PDB
7OF5	EM	290 A	u	1-234	PDB
7OF7	EM	250 A	u	1-234	PDB
7OI6	EM	570 A	u	1-234	PDB
7OI7	EM	350 A	u	1-234	PDB
7OI8	EM	350 A	u	1-234	PDB
7OI9	EM	330 A	u	1-234	PDB
7OIC	EM	310 A	u	1-234	PDB
7OID	EM	370 A	u	1-234	PDB
7OIE	EM	350 A	u	1-234	PDB
7PD3	EM	340 A	u	1-234	PDB
7PO4	EM	256 A	za	1-234	PDB
7QH6	EM	308 A	u	1-234	PDB
7QH7	EM	289 A	u	91-201	PDB
8PK0	EM	303 A	u	1-234	PDB
8QSJ	EM	300 A	u	1-234	PDB
AF-Q96EH3-F1	Predicted				AlphaFoldDB

285 variants for Q96EH3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1410419475 CA367026473	2	G>E		No	ClinGen TOPMed gnomAD
CA367026468 rs1391819256	2	G>R		No	ClinGen gnomAD
CA367026477 rs749361384	3	P>L		No	ClinGen ExAC TOPMed gnomAD
CA4187875 rs749361384	3	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA4187876 rs749361384	3	P>R		No	ClinGen ExAC TOPMed gnomAD
rs747914062 CA4187880	4	G>D		No	ClinGen ExAC gnomAD
CA4187878 rs61734321	4	G>R		No	ClinGen 1000Genomes TOPMed gnomAD
COSM1755221 CA367026478 rs61734321	4	G>S	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes TOPMed gnomAD
rs766448337 CA4187884	5	G>D		No	ClinGen ExAC gnomAD
rs760838226 CA367026482	5	G>R		No	ClinGen ExAC TOPMed gnomAD
CA4187883 rs760838226	5	G>S		No	ClinGen ExAC TOPMed gnomAD
CA4187887 rs375849242	6	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA367026488 rs1320038756	6	R>L		No	ClinGen TOPMed
CA4187888 rs375849242	6	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA155285108 rs984977983	7	V>A		No	ClinGen TOPMed gnomAD
CA367026493 rs984977983	7	V>E		No	ClinGen TOPMed gnomAD
CA4187889 rs758127169	8	A>E		No	ClinGen ExAC TOPMed gnomAD
CA4187890 rs758127169	8	A>G		No	ClinGen ExAC TOPMed gnomAD
CA367026497 rs1583856175	8	A>S		No	ClinGen Ensembl
CA4187891 rs758127169	8	A>V		No	ClinGen ExAC TOPMed gnomAD
rs756575011 CA4187893	9	R>G		No	ClinGen ExAC TOPMed
rs756575011 CA4187894	9	R>W		No	ClinGen ExAC TOPMed
CA367026501 rs1464131305	10	L>V		No	ClinGen gnomAD
rs780562698 CA367026507	11	L>F		No	ClinGen ExAC gnomAD
CA367026509 rs1475622546	11	L>P		No	ClinGen gnomAD
rs780562698 CA4187896	11	L>V		No	ClinGen ExAC gnomAD
rs1425536683 CA367026516	12	A>D		No	ClinGen gnomAD
CA367026512 rs1411518519	12	A>P		No	ClinGen TOPMed gnomAD
CA4187899 rs368948936	13	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4187900 rs368948936	13	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4187898 rs755019900	13	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1583856217 CA367026521	14	L>V		No	ClinGen Ensembl
CA367026531 rs1284030972	15	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1431920866 CA367026526	15	M>V		No	ClinGen gnomAD
CA4187903 rs371357761	17	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA573751409 rs1312635560	18	R>G		No	ClinGen gnomAD
CA4187905 rs776436713	18	R>K		No	ClinGen ExAC gnomAD
rs770477455 CA4187895	18	R>S		No	ClinGen ExAC gnomAD
CA367026559 rs1459180551	19	A>V		No	ClinGen TOPMed
CA367026567 rs1320780931	21	S>P		No	ClinGen TOPMed gnomAD
CA4187908 rs775114049	22	S>*		No	ClinGen ExAC TOPMed gnomAD
CA367026576 rs775114049	22	S>L		No	ClinGen ExAC TOPMed gnomAD
CA367026578 rs1209139521	23	V>L		No	ClinGen gnomAD
rs763768573 CA4187910	24	A>P		No	ClinGen ExAC TOPMed gnomAD
CA367026583 rs763768573	24	A>T		No	ClinGen ExAC TOPMed gnomAD
CA367026591 rs1418591423	25	G>A		No	ClinGen gnomAD
CA367026592 rs1418591423	25	G>V		No	ClinGen gnomAD
CA367026594 rs1374102258	26	S>T		No	ClinGen TOPMed
rs914152081 CA155285173	27	A>P		No	ClinGen TOPMed gnomAD
CA367026600 rs914152081	27	A>T		No	ClinGen TOPMed gnomAD
CA367026604 rs1410420677	27	A>V		No	ClinGen gnomAD
rs754299384 CA4187915	28	V>I		No	ClinGen ExAC TOPMed gnomAD
CA4187916 rs754299384	28	V>L		No	ClinGen ExAC TOPMed gnomAD
rs966888585 CA155285188	29	G>R		No	ClinGen Ensembl
CA4187918 rs374799777	30	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA4187919 rs374799777	30	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1010031970 CA155285215	31	E>A		No	ClinGen TOPMed
rs1327138043 CA367026618	31	E>K		No	ClinGen gnomAD
rs770843529 CA4187922	32	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1583856341 CA367026632	33	G>W		No	ClinGen Ensembl
rs745769788 CA4187924	35	R>Q		No	ClinGen ExAC gnomAD
rs1211421148 CA367026651	37	L>M		No	ClinGen gnomAD
CA4187926 rs774822352	38	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	39	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775744841 CA155285311	39	V>M		No	ClinGen gnomAD
rs1028646251 CA367026675	41	R>P		No	ClinGen TOPMed gnomAD
CA155285313 rs1028646251	41	R>Q		No	ClinGen TOPMed gnomAD
CA155285312 rs915555999	41	R>W		No	ClinGen TOPMed
rs768241257 CA4187929 COSM1198987	42	L>F	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs768241257 CA367026677	42	L>I		No	ClinGen ExAC gnomAD
rs930987783 CA155285324	43	P>T		No	ClinGen TOPMed
rs761524284 CA4187931	44	V>A		No	ClinGen ExAC gnomAD
CA4187930 rs369149625	44	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1370462465 CA367026697	46	A>T		No	ClinGen gnomAD
CA4187933 rs754282512	47	A>V		No	ClinGen ExAC TOPMed gnomAD
CA4187935 rs765793117	50	R>P		No	ClinGen ExAC TOPMed gnomAD
rs759915520 CA4187934	50	R>W		No	ClinGen ExAC TOPMed gnomAD
rs752658970 CA4187936	53	Q>*		No	ClinGen ExAC gnomAD
CA4187937 rs758553991	53	Q>R		No	ClinGen ExAC gnomAD
rs1202192962 CA367026747	54	T>P		No	ClinGen TOPMed gnomAD
rs751816943 CA367026754	55	P>A		No	ClinGen ExAC gnomAD
rs751816943 CA4187939	55	P>S		No	ClinGen ExAC gnomAD
CA4187940 rs572080754	56	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA367026761 rs1197509330	56	N>S		No	ClinGen gnomAD
CA367026759 rs572080754	56	N>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs372893999 CA4187942	59	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1195580452 CA367026783	59	R>L		No	ClinGen TOPMed
rs780056119 CA4187944	60	G>S		No	ClinGen ExAC gnomAD
CA367026798 rs1460871915	62	H>R		No	ClinGen gnomAD
CA4187946 rs200513830	63	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1396508327 CA367026806	63	S>I		No	ClinGen gnomAD
rs138427455 CA367026814	64	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA4187947 rs150118163	64	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1396190694 CA367026813	64	E>V		No	ClinGen gnomAD
CA4187949 rs771783406	67	L>P		No	ClinGen ExAC TOPMed gnomAD
CA367026831 rs771783406	67	L>R		No	ClinGen ExAC TOPMed gnomAD
CA4187950 rs776808428	68	E>D		No	ClinGen ExAC TOPMed gnomAD
CA367026836 rs1562654904	68	E>G		No	ClinGen Ensembl
rs1318168118 CA367026832	68	E>K		No	ClinGen TOPMed
rs926908239 CA155285423	69	E>D		No	ClinGen TOPMed
rs753249438 CA4187953	70	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4187951 rs375085279	70	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1351745259 CA367026849	71	A>T		No	ClinGen TOPMed
CA4187954 rs763611778	72	E>G		No	ClinGen ExAC
CA367026871 rs764246133	74	T>K		No	ClinGen ExAC TOPMed gnomAD
CA4187955 rs764246133	74	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1583856509 CA367026877	75	V>G		No	ClinGen Ensembl
rs1469961115 CA367026881	76	N>Y		No	ClinGen gnomAD
CA4187957 rs757514681	77	E>G		No	ClinGen ExAC gnomAD
CA367026911 rs1476744731	80	P>L		No	ClinGen TOPMed
rs1173027499 CA367026906	80	P>T		No	ClinGen TOPMed
rs369551417 CA155285483	81	E>D		No	ClinGen ESP TOPMed
rs913939410 CA155285477	81	E>K		No	ClinGen TOPMed
CA367026922 rs1427113938	82	S>L		No	ClinGen TOPMed gnomAD
rs781500080 CA4187958	82	S>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	84	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1041568517 CA155285493	86	D>H		No	ClinGen TOPMed
rs1486313156 CA367026959	87	H>D		No	ClinGen TOPMed gnomAD
CA367026968 rs1180787093	88	T>A		No	ClinGen TOPMed gnomAD
CA367026970 rs1247844513	88	T>I		No	ClinGen TOPMed gnomAD
rs770529573 CA4187991	89	G>D		No	ClinGen ExAC gnomAD
CA4187990 rs770529573	89	G>V		No	ClinGen ExAC gnomAD
CA367026987 rs1376788450	91	K>R		No	ClinGen gnomAD
CA4187992 rs370758198	94	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1369799701 CA367027022	96	M>L		No	ClinGen TOPMed gnomAD
rs144864815 CA4187995	96	M>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144864815 COSM1717582 CA4187994	96	M>T	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA367027021 rs1369799701	96	M>V		No	ClinGen TOPMed gnomAD
CA4187998 rs760923139	97	M>I		No	ClinGen ExAC TOPMed gnomAD
rs146350963 CA4187996 CA4187997	97	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs754769003 CA4188001	100	L>F		No	ClinGen ExAC gnomAD
CA4188002 rs765080581	103	Q>*		No	ClinGen ExAC gnomAD
CA4188003 rs752663860	103	Q>L		No	ClinGen ExAC gnomAD
CA367027078 rs1346481141	105	N>D		No	ClinGen TOPMed
rs758314819 CA4188005	105	N>I		No	ClinGen ExAC TOPMed gnomAD
rs758314819 CA4188004	105	N>S		No	ClinGen ExAC TOPMed gnomAD
rs756885401 CA367027091	107	R>K		No	ClinGen ExAC gnomAD
rs756885401 CA4188007	107	R>T		No	ClinGen ExAC gnomAD
rs1226857292 CA367027096	108	D>H		No	ClinGen TOPMed gnomAD
rs1226857292 CA367027095	108	D>Y		No	ClinGen TOPMed gnomAD
rs1249054735 CA367027104	109	I>V		No	ClinGen gnomAD
CA367027113 rs749599138	110	C>F		No	ClinGen ExAC gnomAD
rs749599138 CA4188009	110	C>Y		No	ClinGen ExAC gnomAD
CA4188010 rs769140229	111	V>G		No	ClinGen ExAC gnomAD
rs1195226234 CA367027130	113	Q>*		No	ClinGen TOPMed gnomAD
rs371507714 CA4188011	114	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4188012 rs371507714	114	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146146722 CA155287074	115	P>L		No	ClinGen ESP
rs143110260 CA4188013	115	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA367027150 rs1356280109	116	P>L		No	ClinGen gnomAD
CA367027153 COSM1312975 rs1463581260	117	E>Q	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA155287075 rs933475225	118	M>I		No	ClinGen TOPMed gnomAD
CA367027160 rs1424543654	118	M>V		No	ClinGen TOPMed
rs148727123 CA4188015	119	R>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771070855 TCGA novel CA4188016	120	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
rs934107656 CA155287078	121	T>A		No	ClinGen TOPMed
rs759809516 CA4188018	122	D>Y		No	ClinGen ExAC gnomAD
rs1294052141 CA367027198	123	Y>*		No	ClinGen gnomAD
CA4188019 rs753134280	125	V>L		No	ClinGen ExAC TOPMed gnomAD
CA367027209 rs753134280	125	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	126	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs890036263 CA155287112	127	V>I		No	ClinGen TOPMed gnomAD
CA155287117 rs942982246	128	S>R		No	ClinGen TOPMed
rs1264388678 CA367027229	128	S>T		No	ClinGen gnomAD
rs769131110 CA367027241	130	T>I		No	ClinGen ExAC TOPMed gnomAD
rs769131110 CA155287121	130	T>N		No	ClinGen ExAC TOPMed gnomAD
rs769131110 CA4188020	130	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1215197596 CA367027247	131	S>F		No	ClinGen gnomAD
rs762906748 CA367027249	132	T>A		No	ClinGen ExAC gnomAD
CA4188022 rs367666703	132	T>I		No	ClinGen ESP ExAC gnomAD
rs762906748 CA4188021	132	T>S		No	ClinGen ExAC gnomAD
rs367666703 CA155287152	132	T>S		No	ClinGen ESP ExAC gnomAD
rs756840943 CA4188024	133	R>*		No	ClinGen ExAC TOPMed gnomAD
CA4188025 rs780906593	133	R>L		No	ClinGen ExAC gnomAD
CA367027252 rs780906593	133	R>Q		No	ClinGen ExAC gnomAD
CA4188026 rs750094745	134	H>N		No	ClinGen ExAC gnomAD
CA155287177 rs942426494	134	H>R		No	ClinGen Ensembl
rs1460021024 CA367027261	135	L>V		No	ClinGen gnomAD
TCGA novel	136	H>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1043886885 CA155287185	136	H>N		No	ClinGen TOPMed gnomAD
TCGA novel	136	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1287537421 CA367027278	137	A>G		No	ClinGen gnomAD
rs999626653 CA155287199	138	M>T		No	ClinGen Ensembl
rs898516766 CA155287197	138	M>V		No	ClinGen TOPMed gnomAD
rs779310936 CA4188030	139	A>V		No	ClinGen ExAC TOPMed gnomAD
CA4188032 rs772586300	140	F>L		No	ClinGen ExAC gnomAD
CA155287228 rs1013362222	142	V>A		No	ClinGen TOPMed gnomAD
rs747613839 CA4188034	142	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA367027307 rs747613839	142	V>L		No	ClinGen ExAC TOPMed gnomAD
CA155287230 rs537148920	144	K>T		No	ClinGen 1000Genomes TOPMed
CA4188039 rs370287684	145	M>T		No	ClinGen ESP ExAC gnomAD
CA155287233 rs1035306401	145	M>V		No	ClinGen TOPMed gnomAD
CA155294013 rs868784372	146	Y>*		No	ClinGen Ensembl
CA367027345 rs1246134475	146	Y>D		No	ClinGen TOPMed
CA367027344 rs1246134475	146	Y>H		No	ClinGen TOPMed
rs1334678588 CA367027352	147	K>E		No	ClinGen gnomAD
rs1334678588 CA367027350	147	K>Q		No	ClinGen gnomAD
rs768330491 CA4188063	148	H>P		No	ClinGen ExAC TOPMed gnomAD
CA367027361 rs768330491	148	H>R		No	ClinGen ExAC TOPMed gnomAD
CA367027369 rs1211489902	149	L>R		No	ClinGen TOPMed
CA367027366 rs1373677026	149	L>V		No	ClinGen gnomAD
TCGA novel	150	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767582615 CA4188066	153	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA367027396 rs1211534967	153	R>H		No	ClinGen gnomAD
CA367027397 rs1211534967	153	R>P		No	ClinGen gnomAD
rs772804495 CA4188067	154	D>G		No	ClinGen ExAC TOPMed gnomAD
rs373949821 CA4188068	155	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1202601974 CA367027434	159	I>V		No	ClinGen gnomAD
rs765975928 CA4188069	161	G>E		No	ClinGen ExAC gnomAD
rs1039259413 CA155294076	163	D>H		No	ClinGen Ensembl
rs753431892 CA4188070	164	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs146044682 CA155294095	165	D>A		No	ClinGen 1000Genomes gnomAD
rs754703137 CA4188072	165	D>E		No	ClinGen ExAC
rs146044682 CA367027476	165	D>G		No	ClinGen 1000Genomes gnomAD
rs1296072976 CA367027473	165	D>N		No	ClinGen TOPMed
rs1455923049 CA367027481	166	D>N		No	ClinGen gnomAD
rs764345400 CA4188073	167	W>*		No	ClinGen ExAC gnomAD
CA155294120 rs368133831	168	L>P		No	ClinGen ESP TOPMed
rs1407703597 CA367027496	168	L>V		No	ClinGen gnomAD
CA367027503 rs1354718458	169	C>F		No	ClinGen gnomAD
CA4188074 rs751946003	169	C>R		No	ClinGen ExAC gnomAD
rs371893239 CA155294180	170	V>A		No	ClinGen ESP TOPMed
rs781667851 CA155294179	170	V>L		No	ClinGen ExAC gnomAD
rs781667851 CA4188076	170	V>M		No	ClinGen ExAC gnomAD
rs75998451 CA155294189	171	D>G		No	ClinGen Ensembl
rs1419541550 CA367027536	173	G>D		No	ClinGen gnomAD
rs779277827 CA4188102	174	S>T		No	ClinGen ExAC gnomAD
CA4188103 rs747889110	176	V>G		No	ClinGen ExAC gnomAD
rs771992350 CA4188104	178	H>D		No	ClinGen ExAC TOPMed gnomAD
rs1016649418 CA155295829	180	M>T		No	ClinGen TOPMed
CA4188105 rs777754045	181	L>F		No	ClinGen ExAC gnomAD
CA155295830 rs777754045	181	L>I		No	ClinGen ExAC gnomAD
rs1330776951 CA367027591	181	L>R		No	ClinGen TOPMed
rs1291555155 CA367027613	185	R>G		No	ClinGen gnomAD
CA4188108 rs151280585	186	E>D		No	ClinGen ESP ExAC TOPMed
CA4188107 rs770926609	186	E>Q		No	ClinGen ExAC gnomAD
rs759092483 CA4188109	187	I>V		No	ClinGen ExAC gnomAD
CA4188111 rs139282129	188	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA4188110 rs769380055	188	Y>C		No	ClinGen ExAC
TCGA novel	191	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4188112 rs762660413	191	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA4188114 rs750835107	194	W>*		No	ClinGen ExAC gnomAD
rs780392258 CA155295922	194	W>G		No	ClinGen Ensembl
rs770643597 CA155295924	195	T>I		No	ClinGen Ensembl
CA367027687 rs761036860	196	L>I		No	ClinGen ExAC TOPMed gnomAD
CA4188115 rs761036860	196	L>V		No	ClinGen ExAC TOPMed gnomAD
rs766937705 CA4188116	197	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
rs145438232 CA4188118	197	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145438232 CA367027693	197	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766937705 CA4188117	197	R>S		No	ClinGen ExAC TOPMed
TCGA novel	199	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4188119 rs373009457	201	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA4188120 rs199807736	202	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA4188122 rs777665888	204	A>V		No	ClinGen ExAC gnomAD
CA155296029 rs1027262107	205	Q>E		No	ClinGen Ensembl
CA4188126 rs770707788	205	Q>H		No	ClinGen ExAC gnomAD
rs746855525 CA4188125	205	Q>R		No	ClinGen ExAC
CA4188128 rs369712497 CA4188129	206	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA367027748 rs1432815012	206	I>T		No	ClinGen TOPMed gnomAD
CA4188127 rs369712497	206	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1311087669 CA367027755	207	A>V		No	ClinGen TOPMed gnomAD
CA367027759 rs1366197208	208	P>S		No	ClinGen TOPMed gnomAD
rs1334262711 CA367027766	209	E>G		No	ClinGen gnomAD
CA4188130 rs775021435	210	T>I		No	ClinGen ExAC
rs1310497203 CA367027776	211	V>I		No	ClinGen gnomAD
rs1209373373 CA367027783	212	P>A		No	ClinGen TOPMed gnomAD
rs1209373373 CA367027784	212	P>S		No	ClinGen TOPMed gnomAD
rs768318646 CA4188132	215	F>L		No	ClinGen ExAC gnomAD
CA367027814 rs1194795498	216	I>T		No	ClinGen gnomAD
CA4188133 rs567798429	217	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1020203490 CA155296102	218	G>R		No	ClinGen TOPMed gnomAD
CA155296114 rs878937808	219	I>T		No	ClinGen TOPMed
CA4188134 rs761103703	219	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1562659208 CA367027840	220	E>D		No	ClinGen Ensembl
rs766734480 CA4188136	221	D>A		No	ClinGen ExAC gnomAD
rs777179713 CA4188137	221	D>E		No	ClinGen ExAC gnomAD
rs1041415688 CA155296143	221	D>H		No	ClinGen TOPMed
rs1192095817 CA367027848	222	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs901637071 CA155296244	225	S>F		No	ClinGen TOPMed gnomAD
rs202173917 CA4188141	226	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4188142 rs752848798	227	T>S		No	ClinGen ExAC gnomAD
rs147835768 CA4188143	228	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA367027890 rs1370724072	229	V>A		No	ClinGen gnomAD
rs767782793 CA4188144	229	V>K		No	ClinGen ExAC gnomAD
CA367027901 rs1447381375	231	L>V		No	ClinGen gnomAD

No associated diseases with Q96EH3

No regional properties for Q96EH3

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q96EH3

Functions

		Description
EC Number
Subcellular Localization	Mitochondrion matrix	Colocalizes with MRPL12 and/or MRPL14
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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.
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.

1 GO annotations of molecular function

Name	Definition
ribosomal large subunit binding	Binding to a large ribosomal subunit.

4 GO annotations of biological process

Name	Definition
negative regulation of mitochondrial translation	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA in a mitochondrion.
negative regulation of ribosome biogenesis	Any process that decreases the rate, frequency or extent of ribosome biogenesis. Ribosome biogenesis is the cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of ribosome subunits.
negative regulation of translation	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA.
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.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9CWV0	Malsu1	Mitochondrial assembly of ribosomal large subunit protein 1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MGPGGRVARL	LAPLMWRRAV	SSVAGSAVGA	EPGLRLLAVQ	RLPVGAAFCR	ACQTPNFVRG
70	80	90	100	110	120
LHSEPGLEER	AEGTVNEGRP	ESDAADHTGP	KFDIDMMVSL	LRQENARDIC	VIQVPPEMRY
130	140	150	160	170	180
TDYFVIVSGT	STRHLHAMAF	YVVKMYKHLK	CKRDPHVKIE	GKDTDDWLCV	DFGSMVIHLM
190	200	210	220	230
LPETREIYEL	EKLWTLRSYD	DQLAQIAPET	VPEDFILGIE	DDTSSVTPVE	LKCE