AiPD: Autoinhibited Protein Database

Q9BYD3

Gene name	MRPL4 (CDABP0091, CGI-28)
Protein name	39S ribosomal protein L4, mitochondrial
Names	L4mt, MRP-L4, Mitochondrial large ribosomal subunit protein uL4m
Species	Homo sapiens (Human)
KEGG Pathway	hsa:51073
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-183 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-183 (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

62 structures for Q9BYD3

Entry ID	Method	Resolution	Chain	Position	Source
3IY9	EM	1410 A	D	97-271	PDB
3J7Y	EM	340 A	F	1-311	PDB
3J9M	EM	350 A	F	1-311	PDB
5OOL	EM	306 A	F	1-311	PDB
5OOM	EM	303 A	F	1-311	PDB
6I9R	EM	390 A	F	1-311	PDB
6NU2	EM	390 A	F	45-294	PDB
6NU3	EM	440 A	F	1-311	PDB
6VLZ	EM	297 A	F	1-311	PDB
6VMI	EM	296 A	F	1-311	PDB
6ZM5	EM	289 A	F	1-311	PDB
6ZM6	EM	259 A	F	1-311	PDB
6ZS9	EM	400 A	XF	1-311	PDB
6ZSA	EM	400 A	XF	1-311	PDB
6ZSB	EM	450 A	XF	1-311	PDB
6ZSC	EM	350 A	XF	1-311	PDB
6ZSD	EM	370 A	XF	1-311	PDB
6ZSE	EM	500 A	XF	1-311	PDB
6ZSG	EM	400 A	XF	1-311	PDB
7A5F	EM	440 A	F3	1-311	PDB
7A5G	EM	433 A	F3	1-311	PDB
7A5H	EM	330 A	F	1-311	PDB
7A5I	EM	370 A	F3	1-311	PDB
7A5J	EM	310 A	F	1-311	PDB
7A5K	EM	370 A	F3	1-311	PDB
7L08	EM	349 A	F	1-311	PDB
7L20	EM	315 A	F	1-311	PDB
7O9K	EM	310 A	F	1-311	PDB
7O9M	EM	250 A	F	1-311	PDB
7ODR	EM	290 A	F	1-311	PDB
7ODS	EM	310 A	F	1-311	PDB
7ODT	EM	310 A	F	1-311	PDB
7OF0	EM	220 A	F	1-311	PDB
7OF2	EM	270 A	F	1-311	PDB
7OF3	EM	270 A	F	1-311	PDB
7OF4	EM	270 A	F	1-311	PDB
7OF5	EM	290 A	F	1-311	PDB
7OF6	EM	260 A	F	1-311	PDB
7OF7	EM	250 A	F	1-311	PDB
7OG4	EM	380 A	XF	1-311	PDB
7OI6	EM	570 A	F	1-311	PDB
7OI7	EM	350 A	F	1-311	PDB
7OI8	EM	350 A	F	1-311	PDB
7OI9	EM	330 A	F	1-311	PDB
7OIA	EM	320 A	F	1-311	PDB
7OIB	EM	330 A	F	1-311	PDB
7OIC	EM	310 A	F	1-311	PDB
7OID	EM	370 A	F	1-311	PDB
7OIE	EM	350 A	F	1-311	PDB
7PD3	EM	340 A	F	1-311	PDB
7PO4	EM	256 A	F	1-311	PDB
7QH6	EM	308 A	F	1-311	PDB
7QH7	EM	289 A	F	45-294	PDB
7QI4	EM	221 A	F	1-311	PDB
7QI5	EM	263 A	F	1-311	PDB
7QI6	EM	298 A	F	1-311	PDB
8ANY	EM	285 A	F	1-311	PDB
8OIR	EM	310 A	BN	1-311	PDB
8OIT	EM	290 A	BN	1-311	PDB
8PK0	EM	303 A	F	1-311	PDB
8QSJ	EM	300 A	F	1-311	PDB
AF-Q9BYD3-F1	Predicted				AlphaFoldDB

302 variants for Q9BYD3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA9189213 rs771021867	3	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA403953208 rs1014656826 CA403953210	4	F>L		No	ClinGen gnomAD
CA9189216 rs759760475	6	R>P		No	ClinGen ExAC gnomAD
CA9189215 rs759760475	6	R>Q		No	ClinGen ExAC gnomAD
rs896257882 CA305203035	6	R>W		No	ClinGen TOPMed
TCGA novel	7	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775132887 CA9189217	7	A>V		No	ClinGen ExAC gnomAD
CA403953238 rs1016159491	8	G>R		No	ClinGen TOPMed gnomAD
rs1016159491 CA305203044	8	G>W		No	ClinGen TOPMed gnomAD
rs1456532547 CA403953255	10	R>G		No	ClinGen TOPMed gnomAD
rs760584743 CA9189218	10	R>L		No	ClinGen ExAC gnomAD
CA403953257 rs1456532547	10	R>W		No	ClinGen TOPMed gnomAD
CA403953264 rs1382543975	11	A>T		No	ClinGen gnomAD
rs761354415 CA9189221	12	W>*		No	ClinGen ExAC gnomAD
rs764867596 CA9189222	13	L>P		No	ClinGen ExAC gnomAD
rs764867596 CA403953294	13	L>R		No	ClinGen ExAC gnomAD
CA403953301 rs1315060215	14	R>W		No	ClinGen gnomAD
rs750027376 CA9189223	15	P>S		No	ClinGen ExAC TOPMed gnomAD
rs750027376 CA403953311	15	P>T		No	ClinGen ExAC TOPMed gnomAD
CA9189224 rs757977349	16	T>P		No	ClinGen ExAC gnomAD
CA305203089 rs752784093	18	S>I		No	ClinGen TOPMed
rs1486425831 CA403953351	18	S>R		No	ClinGen gnomAD
CA305203090 rs752784093	18	S>T		No	ClinGen TOPMed
rs766125517 CA9189226	19	Q>*		No	ClinGen ExAC gnomAD
CA403953611 rs1412196394	20	G>V		No	ClinGen TOPMed
rs1416813209 CA403953616	21	L>V		No	ClinGen TOPMed gnomAD
rs751251367 CA9189246	25	A>E		No	ClinGen ExAC gnomAD
rs751251367 CA403953666	25	A>V		No	ClinGen ExAC gnomAD
CA403953676 rs1306286974	26	E>V		No	ClinGen gnomAD
CA403953694 rs1421038659	27	E>D		No	ClinGen TOPMed gnomAD
CA305203170 rs948728515	29	A>T		No	ClinGen TOPMed gnomAD
CA9189248 rs200091078	32	T>S		No	ClinGen ExAC TOPMed gnomAD
rs754288169 CA9189249	33	E>D		No	ClinGen ExAC TOPMed gnomAD
rs537181699 CA9189250	34	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA403953773 rs1310947983	34	N>I		No	ClinGen gnomAD
rs200573354 CA9189251	34	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9189253 rs200851671	35	P>L		No	ClinGen ExAC TOPMed gnomAD
COSM124499 rs745900824 CA9189252	35	P>S	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs747285465 CA9189255	37	Q>H		No	ClinGen ExAC gnomAD
rs768497124 CA403953819	38	V>L		No	ClinGen ExAC gnomAD
CA9189256 rs768497124	38	V>M		No	ClinGen ExAC gnomAD
rs143729133 CA9189257	40	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9189258 rs559406887	40	S>R		No	ClinGen 1000Genomes ExAC gnomAD
CA403953857 rs1462852653	41	E>*		No	ClinGen Ensembl
rs574649657 CA305203254	42	G>S		No	ClinGen 1000Genomes
rs781607524 CA305203400	45	E>D		No	ClinGen ExAC TOPMed gnomAD
CA403953953 rs1568282884	46	P>A		No	ClinGen Ensembl
CA403953966 rs1166172950	47	V>L		No	ClinGen gnomAD
rs113197610 CA9189275	50	K>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769734581 CA9189276	53	L>F		No	ClinGen ExAC TOPMed gnomAD
rs777536175 CA9189277	55	V>I		No	ClinGen ExAC TOPMed gnomAD
rs777536175 CA403954055	55	V>L		No	ClinGen ExAC TOPMed gnomAD
CA305203431 rs890250247	56	P>H		No	ClinGen TOPMed
rs141266080 CA9189279	57	T>I		No	ClinGen ESP ExAC gnomAD
CA9189278 rs749257644	57	T>S		No	ClinGen ExAC gnomAD
rs759110680 CA9189281	59	R>*		No	ClinGen ExAC gnomAD
rs45520838 COSM1563982 CA9189282	60	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA9189283 rs775168694	60	R>L		No	ClinGen ExAC gnomAD
CA305203478 rs371590299	62	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9189284 rs371590299	62	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs528482130 CA9189285	63	Q>L		No	ClinGen 1000Genomes ExAC gnomAD
rs750828120 CA9189286	64	A>V		No	ClinGen ExAC gnomAD
CA9189287 rs763527301	65	W>*		No	ClinGen ExAC gnomAD
CA403954169 rs1365948230	65	W>C		No	ClinGen TOPMed
rs766851914 CA9189288	68	S>F		No	ClinGen ExAC TOPMed gnomAD
CA9189289 rs138990905	70	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1405206509 CA403954232	71	G>D		No	ClinGen gnomAD
TCGA novel	72	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1391486187 CA403954259	73	E>*		No	ClinGen gnomAD
rs1391486187 CA403954256	73	E>K		No	ClinGen gnomAD
CA9189291 rs781517584	74	Q>R		No	ClinGen ExAC
CA9189294 CA9189293 rs755910219	75	E>D		No	ClinGen ExAC TOPMed gnomAD
COSM3932859 COSM1750614 rs752999846 CA9189292	75	E>Q	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs749098137 CA9189295	76	R>C		No	ClinGen ExAC gnomAD
rs1175956866 CA403954311	77	V>A		No	ClinGen TOPMed
CA305203540 rs970267670	77	V>L		No	ClinGen TOPMed gnomAD
rs778753388 CA9189297	78	G>V		No	ClinGen ExAC gnomAD
CA403954346 rs1422804722	80	A>V		No	ClinGen TOPMed
rs374374421 CA9189298	81	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA403954368 rs1331176476	82	L>P		No	ClinGen gnomAD
TCGA novel	83	H>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9189300 rs775080509	83	H>Y		No	ClinGen ExAC gnomAD
CA9189301 rs760324477	85	D>G		No	ClinGen ExAC gnomAD
CA9189302 rs769993833	86	V>D		No	ClinGen ExAC gnomAD
rs773611478 CA9189303	87	F>C		No	ClinGen ExAC gnomAD
CA9189305 rs766888518	88	A>V		No	ClinGen ExAC gnomAD
CA403954444 rs1237465779	89	T>A		No	ClinGen TOPMed
rs774742706 CA9189306	89	T>I		No	ClinGen ExAC TOPMed gnomAD
rs759648717 COSM3712766 COSM3712767 CA9189307	90	A>S	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs759648717 CA9189308	90	A>T		No	ClinGen ExAC TOPMed gnomAD
rs200328561 CA9189310	92	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA403954475 rs764292040	92	R>K		No	ClinGen ExAC TOPMed gnomAD
CA9189311 rs764292040	92	R>T		No	ClinGen ExAC TOPMed gnomAD
CA305204693 rs139676035	94	D>E		No	ClinGen 1000Genomes
rs1187753179 CA403954847	96	L>P		No	ClinGen TOPMed
rs1331631997 CA403954851	97	H>P		No	ClinGen gnomAD
rs1331631997 CA403954852	97	H>R		No	ClinGen gnomAD
CA403954849 TCGA novel rs1599251239	97	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
CA403954858 rs1474440023	98	Q>*		No	ClinGen TOPMed
CA305204695 rs997984528	99	V>I		No	ClinGen gnomAD
CA403954875 rs1272969948	101	M>L		No	ClinGen TOPMed gnomAD
CA403954876 rs1272969948	101	M>V		No	ClinGen TOPMed gnomAD
CA403954894 rs1343733645	103	Q>*		No	ClinGen gnomAD
CA305204698 rs748099447	107	K>R		No	ClinGen gnomAD
CA305204703 rs771555624	108	R>*		No	ClinGen TOPMed
rs549277749 CA9189333	109	I>T		No	ClinGen 1000Genomes ExAC gnomAD
rs370575780 CA9189352	111	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	113	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1459311611 CA403955094	115	K>Q		No	ClinGen gnomAD
CA9189354 rs776842685	116	T>M		No	ClinGen ExAC TOPMed gnomAD
CA9189356 rs765500256	117	R>I		No	ClinGen ExAC TOPMed gnomAD
rs1322012950 CA403955133	118	A>P		No	ClinGen gnomAD
TCGA novel	118	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403955153 rs1039874811	119	E>D		No	ClinGen TOPMed gnomAD
rs571956458 CA9189359	119	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1265175178 CA403955163	120	V>A		No	ClinGen gnomAD
CA9189360 rs751484818	120	V>L		No	ClinGen ExAC gnomAD
CA9189361 rs751484818	120	V>M		No	ClinGen ExAC gnomAD
CA9189363 rs373908251	121	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1215912278 CA403955169	121	R>W		No	ClinGen TOPMed gnomAD
rs777610804 CA9189365	122	G>V		No	ClinGen ExAC gnomAD
rs772583750 CA9189367	123	G>S		No	ClinGen ExAC gnomAD
rs550089852 CA9189368	125	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs369376597 CA9189370	125	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA9189369 rs550089852	125	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA403955243 rs1340870318	126	K>E		No	ClinGen TOPMed
CA403955273 rs1230209758	128	W>*		No	ClinGen TOPMed
rs776559150 CA9189371	129	P>L		No	ClinGen ExAC gnomAD
CA403955303 rs1161350360	130	Q>*		No	ClinGen gnomAD
CA403955339 rs1452430030	132	G>D		No	ClinGen gnomAD
CA305205618 rs373664758	134	G>A		No	ClinGen ESP TOPMed
CA403955352 rs1302854853	134	G>R		No	ClinGen gnomAD
rs143980023 CA9189377	135	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766167065 CA9189376	135	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	137	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9189378 rs759381900	137	R>W		No	ClinGen ExAC gnomAD
CA403955393 rs1230606879	138	H>Y		No	ClinGen gnomAD
rs1266854084 CA403955412	139	G>D		No	ClinGen gnomAD
CA9189379 rs767562774	142	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9189380 rs752119612	142	R>H		No	ClinGen ExAC TOPMed gnomAD
rs755737882 CA9189381	144	P>L	Variant assessed as Somatic; 5.257e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	146	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780575663 CA9189385	147	R>*		No	ClinGen ExAC gnomAD
rs200112346 CA9189386	147	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA305205656 rs1022795900	148	G>A		No	ClinGen Ensembl
CA403955526 rs1409674894	148	G>R		No	ClinGen gnomAD
CA403957143 rs1427162124	149	G>A		No	ClinGen gnomAD
CA403955557 rs1200119812	149	G>R		No	ClinGen TOPMed
rs781513149 CA9189411	150	G>V		No	ClinGen ExAC gnomAD
CA9189412 rs200225305	151	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1318567686 CA403957190	153	H>Y		No	ClinGen TOPMed gnomAD
rs148608571 CA9189415	156	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs148608571 CA9189414	156	R>Q	Variant assessed as Somatic; 0.0001396 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs372085895 COSM180542 CA9189413	156	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs771115737 CA9189416	157	G>S		No	ClinGen ExAC gnomAD
rs1485428132 CA403957283	160	S>T		No	ClinGen gnomAD
TCGA novel	161	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1295865244 CA403957301	162	Y>*		No	ClinGen gnomAD
rs1366112043 CA403957327	166	P>T		No	ClinGen gnomAD
CA403957332 rs1259646464	167	M>V		No	ClinGen gnomAD
CA9189418 rs745604142	169	V>M		No	ClinGen ExAC
CA9189419 rs376717443	170	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs144157141 CA9189420	171	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs776275203 CA403957377	174	L>P		No	ClinGen ExAC TOPMed gnomAD
rs776275203 CA9189423	174	L>R		No	ClinGen ExAC TOPMed gnomAD
CA403957381 rs1306760678	175	K>T		No	ClinGen gnomAD
CA403957391 rs1599254049	176	V>G		No	ClinGen Ensembl
rs764772063 CA9189426	177	A>V		No	ClinGen ExAC gnomAD
CA305206372 rs1015774737	179	T>I		No	ClinGen TOPMed
rs113661042 CA403957407	180	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9189428 rs113661042	180	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9189429 rs767939698	181	K>R		No	ClinGen ExAC gnomAD
rs1027505479 CA305206397	182	L>P		No	ClinGen TOPMed gnomAD
rs1166384726 CA403957434	184	Q>L		No	ClinGen TOPMed gnomAD
rs1166384726 CA403957433	184	Q>R		No	ClinGen TOPMed gnomAD
rs766014509	185	D>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
COSM1390041 rs753032227 CA9189452	186	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA403957488 rs1244761614	190	M>T		No	ClinGen TOPMed
rs1391386510 CA403957485	190	M>V		No	ClinGen gnomAD
rs1599254257 CA403957504	192	S>Y		No	ClinGen Ensembl
rs764539966 CA403957519	194	E>D		No	ClinGen ExAC TOPMed gnomAD
CA403957512 rs1317710803	194	E>K		No	ClinGen TOPMed gnomAD
CA403957513 rs1317710803	194	E>Q		No	ClinGen TOPMed gnomAD
rs1341348678 CA403957516	194	E>V		No	ClinGen gnomAD
rs1568285165 CA403957522	195	L>R		No	ClinGen Ensembl
rs139740270 CA9189455	195	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1353351844 CA403957535	197	T>I		No	ClinGen TOPMed gnomAD
rs1353351844 CA403957534	197	T>S		No	ClinGen TOPMed gnomAD
CA403957536 rs150980348	198	G>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9189457 rs150980348	198	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs931741800 CA305206577	199	D>G		No	ClinGen TOPMed
rs750524538 CA9189458	199	D>N		No	ClinGen ExAC gnomAD
CA403957565 rs1163218703	202	Y>C		No	ClinGen TOPMed
CA403957564 rs1163218703	202	Y>S		No	ClinGen TOPMed
CA403957601 rs1475089108	206	L>R		No	ClinGen gnomAD
rs1254889983 CA403957598	206	L>V		No	ClinGen gnomAD
rs1183347402 CA403957607	207	A>S		No	ClinGen gnomAD
CA9189462 rs201729818	207	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200065054 CA9189465	209	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA305206624 rs200065054	209	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs201711265 CA305206639	210	R>C		No	ClinGen 1000Genomes TOPMed gnomAD
rs769677982 CA9189466	210	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9189467 rs372183483	211	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs762412349 CA9189468	211	R>H		No	ClinGen ExAC TOPMed gnomAD
rs770597919 CA9189469	212	W>G		No	ClinGen ExAC TOPMed gnomAD
rs373878760 CA9189470	214	D>N		No	ClinGen ESP ExAC gnomAD
CA9189471 rs373878760	214	D>Y		No	ClinGen ESP ExAC gnomAD
CA9189473 rs754281970	216	V>I		No	ClinGen ExAC gnomAD
rs762364446 CA9189474	217	L>H		No	ClinGen ExAC gnomAD
CA9189476 rs750482628	219	V>M		No	ClinGen ExAC TOPMed gnomAD
CA9189477 rs758456190	220	D>N		No	ClinGen ExAC TOPMed gnomAD
rs34883988 CA9189500	223	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA403957884 rs767894074	224	E>*		No	ClinGen ExAC gnomAD
rs752516515 CA9189504	224	E>D		No	ClinGen ExAC gnomAD
rs1403212149 CA403957888	224	E>G		No	ClinGen TOPMed
CA9189502 rs767894074	224	E>K		No	ClinGen ExAC gnomAD
CA9189505 rs144958174	226	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs552352598 CA305206796 COSM1159780	227	P>S	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs777728766 CA9189506	228	Q>R		No	ClinGen ExAC gnomAD
CA305206800 rs757193561	229	S>T		No	ClinGen Ensembl
TCGA novel	230	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749191137 CA9189507	230	I>V		No	ClinGen ExAC gnomAD
CA9189509 rs201159293	231	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA403957989 rs1324314839	232	E>K		No	ClinGen gnomAD
rs372152292 CA9189511	233	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs775051143 CA9189512	234	T>I		No	ClinGen ExAC TOPMed gnomAD
rs748494971 CA9189513	235	S>Y		No	ClinGen ExAC gnomAD
rs1195822434 CA403958034	236	R>G		No	ClinGen gnomAD
CA9189514 rs138820985	237	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9189515 rs773701639	241	N>D		No	ClinGen ExAC gnomAD
CA403958082 rs1259985863	243	I>V		No	ClinGen gnomAD
CA9189516 rs763567425	244	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1368865977 CA403958116	246	V>I		No	ClinGen gnomAD
rs767241307 CA9189587	247	G>A		No	ClinGen ExAC gnomAD
CA403960561 rs1314461738	248	L>P		No	ClinGen gnomAD
rs1314461738 CA403960560	248	L>Q		No	ClinGen gnomAD
CA403960567 rs1568286016	249	N>S		No	ClinGen Ensembl
rs1353528013 CA403960581	251	H>D		No	ClinGen TOPMed gnomAD
rs1353528013 CA403960583	251	H>Y		No	ClinGen TOPMed gnomAD
TCGA novel	252	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403960623 rs1221503915	253	M>I		No	ClinGen gnomAD
CA9189589 rs77884668	253	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1020627275 CA403960636	254	L>P		No	ClinGen gnomAD
rs1020627275 CA305207736	254	L>R		No	ClinGen gnomAD
CA403960642 rs1213523268	255	K>E		No	ClinGen gnomAD
rs1183181364 CA403960698	258	T>M		No	ClinGen gnomAD
CA305207758 rs1018842598	258	T>S		No	ClinGen TOPMed gnomAD
CA403960723 rs1265468186	260	V>F		No	ClinGen TOPMed
CA9189593 rs376135137	260	V>G		No	ClinGen ESP ExAC TOPMed
rs1489317226 CA403960735	261	L>V		No	ClinGen TOPMed
CA403960752 rs371517605	262	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA9189594 rs371517605	262	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs371517605 CA403960754	262	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA9189597 rs776765113	265	T>P		No	ClinGen ExAC gnomAD
rs563136480 CA9189599	266	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762855612 COSM1215499 CA9189601	267	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1439458311 CA403960827	267	A>V		No	ClinGen gnomAD
rs374501092 CA9189603	269	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs74457164 CA9189608	272	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752317207 CA9189606	272	K>R		No	ClinGen ExAC gnomAD
CA9189609 rs202218040	273	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA403960947 rs1599255902	275	W>*		No	ClinGen Ensembl
rs1464518761 CA403960997	278	S>L		No	ClinGen TOPMed
rs747554492 CA9189613	279	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9189614 rs150246979	279	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138698456 CA9189615	283	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA305207891 rs866521587	284	Y>*		No	ClinGen Ensembl
CA9189616 rs142765226	284	Y>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs935992302 CA305207897	285	P>R		No	ClinGen TOPMed
rs773446431 CA403961158	289	P>S		No	ClinGen ExAC TOPMed gnomAD
rs773446431 CA9189618	289	P>T		No	ClinGen ExAC TOPMed gnomAD
CA9189620 rs770765591	291	S>G		No	ClinGen ExAC gnomAD
CA9189622 rs139494066	292	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs139494066 CA9189623	292	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs528817442 CA9189625	294	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs910618926 CA305207968	294	P>L		No	ClinGen TOPMed
rs910618926 CA403961252	294	P>R		No	ClinGen TOPMed
rs760307103 CA9189626	295	R>*		No	ClinGen ExAC TOPMed gnomAD
CA9189628 rs763787644	295	R>L		No	ClinGen ExAC TOPMed gnomAD
CA9189627 rs763787644	295	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA403961889 rs1272255880	296	P>H		No	ClinGen gnomAD
CA9189630 rs766778094	297	L>P		No	ClinGen ExAC gnomAD
rs766778094 CA403961902	297	L>Q		No	ClinGen ExAC gnomAD
rs1211892117 CA403961928	299	H>N		No	ClinGen TOPMed gnomAD
CA403961942 rs752725465	300	A>P		No	ClinGen ExAC TOPMed gnomAD
rs752725465 CA9189636	300	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA305207997 rs897625511	301	T>I		No	ClinGen TOPMed
rs1169880205 CA403961954	302	Q>E		No	ClinGen gnomAD
rs993828134 CA305208003	302	Q>H		No	ClinGen TOPMed
rs199786404 CA9189639	303	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA403961960 rs1248198844	303	G>S		No	ClinGen gnomAD
CA403961973 rs1185046900	305	A>S		No	ClinGen TOPMed gnomAD
CA403961971 rs1185046900	305	A>T		No	ClinGen TOPMed gnomAD
rs537189707 CA9189641	305	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs144195512 CA9189644	307	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144195512 CA9189643	307	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775587542 CA403961989	308	P>L		No	ClinGen ExAC TOPMed gnomAD
rs775587542 CA9189646	308	P>R		No	ClinGen ExAC TOPMed gnomAD
CA9189648 rs200330588	309	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776087861 CA9189649	310	H>N		No	ClinGen ExAC gnomAD
CA9189651 rs764863946	310	H>R		No	ClinGen ExAC gnomAD
CA9189650 rs776087861	310	H>Y		No	ClinGen ExAC gnomAD

No associated diseases with Q9BYD3

No regional properties for Q9BYD3

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9BYD3

Functions

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

3 GO annotations of cellular component

Name	Definition
mitochondrial inner membrane	The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae.
mitochondrial large ribosomal subunit	The larger of the two subunits of a mitochondrial ribosome. Two sites on the ribosomal large subunit are involved in translation: the aminoacyl site (A site) and peptidyl site (P site).
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.

2 GO annotations of molecular function

Name	Definition
RNA binding	Binding to an RNA molecule or a portion thereof.
structural constituent of ribosome	The action of a molecule that contributes to the structural integrity of the ribosome.

1 GO annotations of biological process

Name	Definition
mitochondrial translation	The chemical reactions and pathways resulting in the formation of a protein in a mitochondrion. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein; the mitochondrion has its own ribosomes and transfer RNAs, and uses a genetic code that differs from the nuclear code.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q32PI6	MRPL4	39S ribosomal protein L4, mitochondrial	Bos taurus (Bovine)	PR
Q503X2	mrpl4	39S ribosomal protein L4, mitochondrial	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MLQFVRAGAR	AWLRPTGSQG	LSSLAEEAAR	ATENPEQVAS	EGLPEPVLRK	VELPVPTHRR
70	80	90	100	110	120
PVQAWVESLR	GFEQERVGLA	DLHPDVFATA	PRLDILHQVA	MWQKNFKRIS	YAKTKTRAEV
130	140	150	160	170	180
RGGGRKPWPQ	KGTGRARHGS	IRSPLWRGGG	VAHGPRGPTS	YYYMLPMKVR	ALGLKVALTV
190	200	210	220	230	240
KLAQDDLHIM	DSLELPTGDP	QYLTELAHYR	RWGDSVLLVD	LTHEEMPQSI	VEATSRLKTF
250	260	270	280	290	300
NLIPAVGLNV	HSMLKHQTLV	LTLPTVAFLE	DKLLWQDSRY	RPLYPFSLPY	SDFPRPLPHA
310
TQGPAATPYH	C