AiPD: Autoinhibited Protein Database

Q9BYD6

Gene name	MRPL1 (BM-022)
Protein name	39S ribosomal protein L1, mitochondrial
Names	L1mt, MRP-L1, Mitochondrial large ribosomal subunit protein uL1m
Species	Homo sapiens (Human)
KEGG Pathway	hsa:65008
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

18-95 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

18-95 (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

8 structures for Q9BYD6

Entry ID	Method	Resolution	Chain	Position	Source
7A5K	EM	370 A	n	23-308	PDB
7QI4	EM	221 A	z	1-325	PDB
7QI5	EM	263 A	z	1-325	PDB
7QI6	EM	298 A	z	1-325	PDB
8ANY	EM	285 A	z	1-325	PDB
8OIR	EM	310 A	Bj	1-325	PDB
8OIT	EM	290 A	Bj	1-325	PDB
AF-Q9BYD6-F1	Predicted				AlphaFoldDB

263 variants for Q9BYD6

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1196667437 CA357460666	2	A>V		No	ClinGen TOPMed gnomAD
rs1322072685 CA357460667	3	A>T		No	ClinGen TOPMed
CA357460670 rs1433558640	3	A>V		No	ClinGen TOPMed gnomAD
rs28695846 CA2975397	4	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2975396 rs768194856	4	A>P		No	ClinGen ExAC TOPMed gnomAD
rs768194856 CA100321507	4	A>T		No	ClinGen ExAC TOPMed gnomAD
CA357460680 rs1578033567	5	V>G		No	ClinGen Ensembl
CA357460676 rs982925697	5	V>I		No	ClinGen TOPMed gnomAD
rs982925697 CA100321508	5	V>L		No	ClinGen TOPMed gnomAD
rs1409571084 CA357460683	6	R>K		No	ClinGen TOPMed gnomAD
rs1324530450 CA357460687	6	R>S		No	ClinGen gnomAD
CA357460690 rs1578033580	7	C>G		No	ClinGen Ensembl
rs965748962 CA357460692	7	C>S		No	ClinGen TOPMed gnomAD
rs965748962 CA100321509	7	C>Y		No	ClinGen TOPMed gnomAD
rs1403121527 CA357460699	8	M>I		No	ClinGen gnomAD
rs571113768 CA2975402	8	M>T		No	ClinGen 1000Genomes ExAC
CA2975400 rs746442564	8	M>V		No	ClinGen ExAC
CA2975404 rs780572515	10	R>K		No	ClinGen ExAC gnomAD
CA2975405 rs749696397 COSM1131049	10	R>S	prostate [Cosmic]	No	ClinGen cosmic curated ExAC
rs769124011 CA2975406	11	A>T		No	ClinGen ExAC gnomAD
CA357460735 rs1402517574	12	L>F		No	ClinGen gnomAD
rs770452394 CA2975429	13	I>K		No	ClinGen ExAC gnomAD
CA2975430 rs373565703	14	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	18	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2975431 rs759462021	19	S>I		No	ClinGen ExAC gnomAD
rs775275383 CA2975433	22	K>*		No	ClinGen ExAC gnomAD
CA2975434 rs762699258	22	K>N		No	ClinGen ExAC gnomAD
CA2975435 rs569610916	23	M>T		No	ClinGen 1000Genomes ExAC gnomAD
CA357460817 rs1560458782	24	V>A		No	ClinGen Ensembl
rs913472161 CA100322512	24	V>F		No	ClinGen TOPMed
TCGA novel	26	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA357460840 rs1453172087	27	T>I		No	ClinGen TOPMed
CA357460849 rs1578037193	29	L>F		No	ClinGen Ensembl
rs376741464 CA2975437	30	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1450002556 CA357460865	31	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA357460879 rs1353986601	33	S>F		No	ClinGen gnomAD
CA357460876 rs1313994952	33	S>T		No	ClinGen gnomAD
TCGA novel	33	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1240483719 CA357460885	34	V>A		No	ClinGen gnomAD
CA357460888 rs1258470647	35	N>Y		No	ClinGen gnomAD
rs755557058 CA2975440	36	I>V		No	ClinGen ExAC gnomAD
CA2975441 rs373853356	37	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2975442 rs373853356	37	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA100322513 rs368049191	37	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA2975443 rs758739532	41	R>G		No	ClinGen ExAC gnomAD
CA100322514 rs865946090	41	R>K		No	ClinGen TOPMed
rs1328387877 CA357460927	42	H>N		No	ClinGen gnomAD
rs777338567 CA2975444	43	F>I		No	ClinGen ExAC gnomAD
rs746641283 CA2975445	45	A>P		No	ClinGen ExAC TOPMed gnomAD
CA2975447 rs370109303	46	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
VAR_027865 CA100322516 rs17851275	47	T>K		No	ClinGen UniProt TOPMed dbSNP gnomAD
rs1211151559 CA357460958	47	T>P		No	ClinGen TOPMed
rs1578041375 CA357460987	49	S>Y		No	ClinGen Ensembl
rs1245185025 CA357460995	50	A>E		No	ClinGen TOPMed gnomAD
CA357460994 rs1245185025	50	A>G		No	ClinGen TOPMed gnomAD
rs1198505067 CA357460990	50	A>T		No	ClinGen gnomAD
CA357461003 rs1404970486	51	K>N		No	ClinGen TOPMed gnomAD
CA2975475 rs756944824	52	K>E		No	ClinGen ExAC gnomAD
rs1406360247 CA357461007	52	K>T		No	ClinGen Ensembl
CA357461015 rs780754653	53	T>K		No	ClinGen ExAC TOPMed gnomAD
rs780754653 CA2975476	53	T>R		No	ClinGen ExAC TOPMed gnomAD
rs745407821 CA2975477	54	K>T		No	ClinGen ExAC gnomAD
rs1222877992 CA357461030	55	K>N		No	ClinGen gnomAD
CA2975480 rs141558413	56	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1278573050 CA357461033	56	G>C		No	ClinGen gnomAD
CA2975479 rs141558413	56	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2975478 rs141558413	56	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA357461036 rs1225495221	57	A>T		No	ClinGen gnomAD
CA2975482 rs768393881	59	E>G		No	ClinGen ExAC TOPMed gnomAD
rs768393881 CA357461052	59	E>V		No	ClinGen ExAC TOPMed gnomAD
rs1224767694 CA357461061	60	K>N		No	ClinGen gnomAD
TCGA novel	61	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774209665 CA2975483	62	P>S		No	ClinGen ExAC gnomAD
CA357461069 rs774209665	62	P>T		No	ClinGen ExAC gnomAD
CA357461091 rs1421496205	65	K>E		No	ClinGen TOPMed
COSM3428678 rs761449819 CA2975484	65	K>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs771311631 CA2975485	66	K>N		No	ClinGen ExAC gnomAD
CA2975486 rs374765104	67	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	67	D>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA357461123 rs1488698199	69	I>T		No	ClinGen TOPMed
CA2975487 rs759737459	70	E>G		No	ClinGen ExAC gnomAD
CA357461145 rs1372078604	72	I>K		No	ClinGen gnomAD
rs765376264 CA2975488	73	K>E		No	ClinGen ExAC TOPMed gnomAD
rs367802816 CA100323769	74	A>T		No	ClinGen ESP TOPMed gnomAD
CA2975490 rs574098483	75	Y>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764447380 CA2975491	76	P>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	76	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764447380 CA357461167	76	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1280716121 CA357461175	77	Y>C		No	ClinGen TOPMed
CA2975492 rs751954915	77	Y>H		No	ClinGen ExAC
rs1294619892 CA357461182	78	M>R		No	ClinGen gnomAD
CA357461180 rs1212519065	78	M>V		No	ClinGen gnomAD
rs755691508 CA2975496	80	G>D		No	ClinGen ExAC gnomAD
rs138407676 CA2975495	80	G>R		No	ClinGen ESP ExAC gnomAD
TCGA novel	80	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs116727867 CA2975498 COSM1431141	81	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1217974792 CA357461209	82	P>R		No	ClinGen gnomAD
rs748612800 CA100323770	82	P>T		No	ClinGen Ensembl
CA2975499 rs372712144	83	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2975502 rs771969573	87	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA2975504 rs759833034	90	R>C		No	ClinGen ExAC gnomAD
rs770056668 CA2975505	90	R>H		No	ClinGen ExAC gnomAD
rs775648208 CA2975506	91	L>V		No	ClinGen ExAC gnomAD
CA357461274 rs1423390403	92	Y>H		No	ClinGen gnomAD
CA2975507 rs762870633	93	P>A		No	ClinGen ExAC TOPMed gnomAD
CA2975509 rs116571938	93	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs116571938 CA2975508	93	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1288049040 CA357461303	96	I>T		No	ClinGen gnomAD
rs762207822 CA2975510	97	Y>H		No	ClinGen ExAC gnomAD
rs767867041 CA2975511	98	E>K		No	ClinGen ExAC TOPMed gnomAD
CA357461320 rs1478178218	99	V>M		No	ClinGen TOPMed
rs1224346836 CA357461342	102	A>T		No	ClinGen gnomAD
CA2975514 rs201815960	103	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA100323773 rs997643963	106	L>P		No	ClinGen TOPMed
CA357461370 rs1274769032	106	L>V		No	ClinGen gnomAD
TCGA novel	108	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753420227 CA2975515	111	I>L		No	ClinGen ExAC gnomAD
CA357461440 rs1182147237	116	S>G		No	ClinGen TOPMed gnomAD
rs531880809 CA2975517	116	S>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1578041519 CA357461450	117	P>R		No	ClinGen Ensembl
CA100323774 rs149356082	118	K>E		No	ClinGen ESP
rs144659187 CA2975518	119	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs941457707 CA100323775	120	S>G		No	ClinGen Ensembl
CA100323776 rs374052194	120	S>R		No	ClinGen gnomAD
rs758334657 CA2975520	121	V>A		No	ClinGen ExAC gnomAD
CA2975521 rs777696778	123	L>I		No	ClinGen ExAC gnomAD
rs746742750 CA2975522	124	D>N		No	ClinGen ExAC gnomAD
CA357461500 rs1470802575	125	L>S		No	ClinGen gnomAD
rs770144494 CA2975523	126	T>I		No	ClinGen ExAC TOPMed gnomAD
CA357461518 rs1217052307	128	D>G		No	ClinGen TOPMed
CA2975524 rs775533911	130	A>T		No	ClinGen ExAC gnomAD
TCGA novel	136	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	136	N>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773663338 CA2975553 CA2975552	137	V>L		No	ClinGen ExAC TOPMed gnomAD
rs773663338 CA2975551	137	V>M		No	ClinGen ExAC TOPMed gnomAD
CA357461617 rs1269008211	141	T>A		No	ClinGen gnomAD
rs1490814622 CA357461623	142	S>G		No	ClinGen gnomAD
rs918627656 CA100323968	145	S>R		No	ClinGen TOPMed gnomAD
CA2975555 rs200768293	147	P>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1475583431 CA357461657 COSM1694583	147	P>S	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs764882621 CA2975557	148	Y>*		No	ClinGen ExAC gnomAD
rs759094911 CA2975556	148	Y>N		No	ClinGen ExAC gnomAD
rs1367573669 CA357461678	150	F>C		No	ClinGen gnomAD
rs764148041 CA2975560	153	E>D		No	ClinGen ExAC TOPMed gnomAD
rs145272041 CA2975559 COSM1057770	153	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1394505371 CA357461699	154	I>L		No	ClinGen TOPMed
rs147627539 CA2975561	155	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs147627539 CA2975562	155	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	161	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA100323969 rs902161734	161	T>K		No	ClinGen Ensembl
rs999718410 CA100323970	162	E>K		No	ClinGen Ensembl
CA357461780 rs1471426034	164	A>S		No	ClinGen gnomAD
rs779158117 CA2975585	164	A>V		No	ClinGen ExAC gnomAD
rs1291377894 CA357461787	165	S>L		No	ClinGen TOPMed
CA2975586 rs752887182	165	S>T		No	ClinGen ExAC gnomAD
rs1186019353 CA357461814	169	I>T		No	ClinGen TOPMed gnomAD
CA357461820 rs777813730	170	A>E		No	ClinGen ExAC TOPMed gnomAD
COSM1057771 CA2975588 rs777813730	170	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2975590 rs377510559	175	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2975591 rs771343076	176	A>T		No	ClinGen ExAC gnomAD
CA100324166 rs17855456 VAR_027866	177	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen UniProt Ensembl NCI-TCGA dbSNP
CA357461875 rs1391873620	179	G>R		No	ClinGen TOPMed
CA2975592 rs781695123	181	T>A		No	ClinGen ExAC gnomAD
CA2975593 rs370691190	181	T>N		No	ClinGen ESP ExAC gnomAD
CA100324167 rs370691190	181	T>S		No	ClinGen ESP ExAC gnomAD
CA100324168 rs759950464	184	I>T		No	ClinGen Ensembl
CA2975595 rs775319978	185	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs746353089 CA2975615	187	I>F		No	ClinGen ExAC
CA100324848 rs1026702997	190	D>N		No	ClinGen Ensembl
rs780579853 CA2975617	191	E>Q		No	ClinGen ExAC gnomAD
CA2975618 rs749599034	193	V>A		No	ClinGen ExAC gnomAD
CA357461987 rs1327689839	194	A>S		No	ClinGen TOPMed
CA2975619 rs768454163	195	D>A		No	ClinGen ExAC gnomAD
CA2975621 rs151164333	198	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs771582956 CA2975622	200	V>L		No	ClinGen ExAC gnomAD
CA2975623 rs773093254	202	E>K		No	ClinGen ExAC gnomAD
CA2975625 rs202202159	204	M>T		No	ClinGen 1000Genomes ExAC gnomAD
rs140167148 CA2975624	204	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA357462088 rs1296048978	205	P>S		No	ClinGen gnomAD
rs1373782747 CA357462140	208	N>K		No	ClinGen TOPMed
rs1225571165 CA357462134	208	N>S		No	ClinGen gnomAD
rs1274003509 CA357462143	209	R>*		No	ClinGen TOPMed gnomAD
CA357462145 COSM1057772 rs1452821529	209	R>Q	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs776411812 CA2975626	210	L>*		No	ClinGen ExAC
rs1360330580 CA357462153	210	L>V		No	ClinGen TOPMed gnomAD
CA100324851 rs373686615	214	L>P		No	ClinGen ESP TOPMed
rs1488458041 CA357462239	216	K>*		No	ClinGen gnomAD
CA2975629 rs751783258	219	P>A		No	ClinGen ExAC gnomAD
CA357462295 rs1340858261	220	K>E		No	ClinGen TOPMed
TCGA novel	221	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757319028 CA2975630	223	R>*		No	ClinGen ExAC gnomAD
COSM1215475 CA2975631 rs767628567	223	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1327736988 CA357462664	224	N>S		No	ClinGen gnomAD
CA357462673 rs1560467611	225	S>F		No	ClinGen Ensembl
CA2975651 rs375007647	226	I>F		No	ClinGen ExAC TOPMed gnomAD
CA100326298 rs375007647	226	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1264193506 CA357462680	227	G>R		No	ClinGen gnomAD
CA2975652 rs375120227	228	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755463866 CA2975653	228	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1801350 CA2975654	229	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1801350 CA2975655	229	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA357462696 rs1482611420	230	I>V		No	ClinGen gnomAD
rs1177278435 CA357462707	231	P>L		No	ClinGen TOPMed gnomAD
rs1410021366 CA357462733	235	E>K		No	ClinGen gnomAD
rs1560467646 CA357462766	239	N>S		No	ClinGen Ensembl
rs758072038 CA2975656	239	N>Y		No	ClinGen ExAC TOPMed
CA357462778 rs1429789459	241	H>R		No	ClinGen TOPMed gnomAD
rs200478080 CA2975660	241	H>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	242	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1471077506 CA357462804	244	K>N		No	ClinGen gnomAD
TCGA novel	250	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	251	N>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM588482 CA357462879 rs1341863396	254	Q>*	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs903488460 CA100326302	255	T>N		No	ClinGen TOPMed
CA357462889 rs903488460	255	T>S		No	ClinGen TOPMed
TCGA novel	257	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA357462908 rs775361785	258	A>E		No	ClinGen ExAC gnomAD
CA2975666 rs775361785	258	A>V		No	ClinGen ExAC gnomAD
rs1000483787 CA100326303	259	T>R		No	ClinGen Ensembl
rs762798375 CA2975692	261	D>G		No	ClinGen ExAC TOPMed gnomAD
CA357462071 rs1300979248	262	M>V		No	ClinGen TOPMed
rs749158086 CA2975693	263	S>L		No	ClinGen ExAC gnomAD
CA2975694 rs768308108 COSM734605	266	Q>H	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1156831161 CA357462183	270	N>D		No	ClinGen TOPMed gnomAD
CA357462190 rs1299288398	270	N>I		No	ClinGen gnomAD
CA357462193 rs1362592547	270	N>K		No	ClinGen gnomAD
rs773639411 CA2975695	272	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA2975696 rs747223197	274	V>A		No	ClinGen ExAC gnomAD
rs551336948 CA100330417	274	V>I		No	ClinGen 1000Genomes
rs1208058715 CA357462261	276	N>S		No	ClinGen TOPMed gnomAD
CA357462283 rs1458208422	277	E>D		No	ClinGen TOPMed gnomAD
TCGA novel	278	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA357462300 rs1288859454	279	C>R		No	ClinGen gnomAD
CA2975698 rs144867264	280	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2975699 rs759492096	281	H>P		No	ClinGen ExAC gnomAD
CA357462334 rs759492096	281	H>R		No	ClinGen ExAC gnomAD
rs1449115137 CA357462343	282	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs137874988 CA2975700	283	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs137874988 CA2975701	283	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764437605 CA2975704	286	L>M		No	ClinGen ExAC TOPMed gnomAD
rs778760814 CA2975720	287	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1336256010 CA357462400	288	P>L		No	ClinGen TOPMed gnomAD
rs1411626731 CA357462401	289	F>I		No	ClinGen TOPMed gnomAD
rs1411626731 CA357462403	289	F>L		No	ClinGen TOPMed gnomAD
rs1286222647 CA357462417	291	V>I		No	ClinGen gnomAD
rs1328292633 CA357462423	292	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA2975721 rs149018720	292	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1055490890 CA100330688	295	L>F		No	ClinGen TOPMed gnomAD
CA2975722 COSM1057774 rs745810053	296	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2975723 rs762117846	296	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs767208360 CA2975724	297	S>N		No	ClinGen ExAC TOPMed gnomAD
CA2975725 rs750012798	299	T>A		No	ClinGen ExAC gnomAD
rs760302706 CA2975726	299	T>R		No	ClinGen ExAC gnomAD
TCGA novel	301	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2975727 rs145887525	302	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA357462518 rs1378951325	307	I>T		No	ClinGen gnomAD
rs754973433 CA2975729	308	D>E		No	ClinGen ExAC gnomAD
CA2975730 COSM448151 rs778950727	309	P>S	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs200268769 CA2975733	310	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA357462562 rs1387098991	314	E>G		No	ClinGen TOPMed gnomAD
rs781601834 CA2975734	314	E>Q		No	ClinGen ExAC gnomAD
rs1232890577 CA357462583	317	N>Y		No	ClinGen gnomAD
TCGA novel	321	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q9BYD6

No regional properties for Q9BYD6

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9BYD6

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
cytosolic large ribosomal subunit	The large subunit of a ribosome located in the cytosol.
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).

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.

2 GO annotations of biological process

Name	Definition
maturation of LSU-rRNA	Any process involved in the maturation of a precursor Large SubUnit (LSU) ribosomal RNA (rRNA) molecule into a mature LSU-rRNA molecule.
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
A6QPQ5	MRPL1	39S ribosomal protein L1, mitochondrial	Bos taurus (Bovine)	PR
Q99N96	Mrpl1	39S ribosomal protein L1, mitochondrial	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MAAAVRCMGR	ALIHHQRHSL	SKMVYQTSLC	SCSVNIRVPN	RHFAAATKSA	KKTKKGAKEK
70	80	90	100	110	120
TPDEKKDEIE	KIKAYPYMEG	EPEDDVYLKR	LYPRQIYEVE	KAVHLLKKFQ	ILDFTSPKQS
130	140	150	160	170	180
VYLDLTLDMA	LGKKKNVEPF	TSVLSLPYPF	ASEINKVAVF	TENASEVKIA	EENGAAFAGG
190	200	210	220	230	240
TSLIQKIWDD	EIVADFYVAV	PEIMPELNRL	RKKLNKKYPK	LSRNSIGRDI	PKMLELFKNG
250	260	270	280	290	300
HEIKVDEERE	NFLQTKIATL	DMSSDQIAAN	LQAVINEVCR	HRPLNLGPFV	VRAFLRSSTS
310	320
EGLLLKIDPL	LPKEVKNEES	EKEDA