AiPD: Autoinhibited Protein Database

Q9HD33

Gene name	MRPL47 (NCM1, CGI-204)
Protein name	39S ribosomal protein L47, mitochondrial
Names	L47mt, MRP-L47, Mitochondrial large ribosomal subunit protein uL29m, Nasopharyngeal carcinoma metastasis-related protein 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:57129
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

88-177 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

88-177 (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

61 structures for Q9HD33

Entry ID	Method	Resolution	Chain	Position	Source
3J7Y	EM	340 A	Y	1-250	PDB
3J9M	EM	350 A	Y	1-250	PDB
5OOL	EM	306 A	Y	1-250	PDB
5OOM	EM	303 A	Y	1-250	PDB
6I9R	EM	390 A	Y	1-250	PDB
6NU2	EM	390 A	Y	63-238	PDB
6NU3	EM	440 A	Y	1-250	PDB
6VLZ	EM	297 A	Y	1-250	PDB
6VMI	EM	296 A	Y	1-250	PDB
6ZM5	EM	289 A	Y	1-250	PDB
6ZM6	EM	259 A	Y	1-250	PDB
6ZS9	EM	400 A	XY	1-250	PDB
6ZSA	EM	400 A	XY	1-250	PDB
6ZSB	EM	450 A	XY	1-250	PDB
6ZSC	EM	350 A	XY	1-250	PDB
6ZSD	EM	370 A	XY	1-250	PDB
6ZSE	EM	500 A	XY	1-250	PDB
6ZSG	EM	400 A	XY	1-250	PDB
7A5F	EM	440 A	Y3	1-250	PDB
7A5G	EM	433 A	Y3	1-250	PDB
7A5H	EM	330 A	Y	1-250	PDB
7A5I	EM	370 A	Y3	1-250	PDB
7A5J	EM	310 A	Y	1-250	PDB
7A5K	EM	370 A	Y3	1-250	PDB
7L08	EM	349 A	Y	1-250	PDB
7L20	EM	315 A	Y	1-250	PDB
7O9K	EM	310 A	Y	1-250	PDB
7O9M	EM	250 A	Y	1-250	PDB
7ODR	EM	290 A	Y	1-250	PDB
7ODS	EM	310 A	Y	1-250	PDB
7ODT	EM	310 A	Y	1-250	PDB
7OF0	EM	220 A	Y	1-250	PDB
7OF2	EM	270 A	Y	1-250	PDB
7OF3	EM	270 A	Y	1-250	PDB
7OF4	EM	270 A	Y	1-250	PDB
7OF5	EM	290 A	Y	1-250	PDB
7OF6	EM	260 A	Y	1-250	PDB
7OF7	EM	250 A	Y	1-250	PDB
7OG4	EM	380 A	XY	1-250	PDB
7OI6	EM	570 A	Y	1-250	PDB
7OI7	EM	350 A	Y	1-250	PDB
7OI8	EM	350 A	Y	1-250	PDB
7OI9	EM	330 A	Y	1-250	PDB
7OIA	EM	320 A	Y	1-250	PDB
7OIB	EM	330 A	Y	1-250	PDB
7OIC	EM	310 A	Y	1-250	PDB
7OID	EM	370 A	Y	1-250	PDB
7OIE	EM	350 A	Y	1-250	PDB
7PD3	EM	340 A	Y	1-250	PDB
7PO4	EM	256 A	Y	1-250	PDB
7QH6	EM	308 A	Y	1-250	PDB
7QH7	EM	289 A	Y	63-237	PDB
7QI4	EM	221 A	Y	1-250	PDB
7QI5	EM	263 A	Y	1-250	PDB
7QI6	EM	298 A	Y	1-250	PDB
8ANY	EM	285 A	Y	1-250	PDB
8OIR	EM	310 A	BF	1-250	PDB
8OIT	EM	290 A	BF	1-250	PDB
8PK0	EM	303 A	Y	1-250	PDB
8QSJ	EM	300 A	Y	1-250	PDB
AF-Q9HD33-F1	Predicted				AlphaFoldDB

229 variants for Q9HD33

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1576873689 CA355261930	3	A>G		No	ClinGen Ensembl
rs544285073 CA2713330	3	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA355261926 rs1301257965	4	A>P		No	ClinGen TOPMed gnomAD
CA355261924 rs1301257965	4	A>S		No	ClinGen TOPMed gnomAD
rs1301257965 CA355261927	4	A>T		No	ClinGen TOPMed gnomAD
rs1269870852 CA355261911	5	G>A		No	ClinGen TOPMed gnomAD
rs749035279 CA2713328	5	G>C		No	ClinGen ExAC TOPMed gnomAD
rs752749537 CA2713325	6	L>F		No	ClinGen ExAC gnomAD
rs755977122 CA2713327	6	L>V		No	ClinGen ExAC TOPMed gnomAD
CA2713323 rs201911825	7	A>G		No	ClinGen 1000Genomes ExAC
CA355261894 rs1560021894	7	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA2713321 rs201911825	7	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA
rs1373570654 CA355261881	8	L>H		No	ClinGen gnomAD
CA88566502 rs558523576	8	L>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1373570654 CA355261879	8	L>P		No	ClinGen gnomAD
rs558523576 CA2713318	8	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1449579729 CA355261873	9	L>F		No	ClinGen gnomAD
rs754129528 CA2713316	9	L>P		No	ClinGen ExAC gnomAD
CA2713311 rs759006398	10	C>*		No	ClinGen ExAC gnomAD
VAR_052042 CA2713314 rs2339844	10	C>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2339844 CA2713315	10	C>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776122095 CA2713313	10	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1485598212 CA355261845	12	R>G		No	ClinGen gnomAD
rs770549717 CA2713309	12	R>T		No	ClinGen ExAC gnomAD
rs931625055 CA88566436	14	S>L		No	ClinGen TOPMed
CA355261803 rs1195192138	16	A>S		No	ClinGen gnomAD
TCGA novel	16	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200071881 CA2713308	18	K>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1008039548 CA88566420	18	K>R		No	ClinGen Ensembl
TCGA novel	19	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs146156936 CA88566418	19	S>P		No	ClinGen ESP TOPMed gnomAD
CA88566404 rs1020488560	21	R>G		No	ClinGen Ensembl
rs1419718182 CA355261748	22	S>*		No	ClinGen TOPMed
rs1309825110 CA355261713	25	T>I		No	ClinGen gnomAD
CA355261720 rs1353446096	25	T>P		No	ClinGen gnomAD
rs368673942 CA2713305	26	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA355261699 rs1363253608	27	Q>E		No	ClinGen TOPMed
CA88566393 rs764798992	27	Q>H		No	ClinGen TOPMed
rs1369465316 CA355261681	28	V>A		No	ClinGen gnomAD
rs1406675693 CA355261676	29	P>S		No	ClinGen gnomAD
rs1182763809 CA355261665	30	A>D		No	ClinGen TOPMed gnomAD
rs1414086616 CA355261671	30	A>S		No	ClinGen gnomAD
rs1182763809 CA355261662	30	A>V		No	ClinGen TOPMed gnomAD
CA88566387 rs755504505	31	C>Y		No	ClinGen Ensembl
CA88566386 rs557752356	32	T>K		No	ClinGen gnomAD
CA2713285 rs746981857	34	F>L		No	ClinGen ExAC gnomAD
CA88565061 rs954254130	35	F>L		No	ClinGen Ensembl
CA355261278 rs1489532105	36	L>F		No	ClinGen gnomAD
CA355261267 rs1030259644	37	S>C		No	ClinGen gnomAD
CA88565054 rs1030259644	37	S>G		No	ClinGen gnomAD
rs1213369584 CA355261259	37	S>I		No	ClinGen gnomAD
CA355261245 rs138528182	38	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1269715118 CA355261251	38	L>S		No	ClinGen TOPMed gnomAD
CA355261255 rs1466970442	38	L>V		No	ClinGen gnomAD
rs1269715118 CA355261249	38	L>W		No	ClinGen TOPMed gnomAD
rs746949445 CA88565025	40	P>L		No	ClinGen TOPMed
CA355261228 rs746949445	40	P>R		No	ClinGen TOPMed
rs757469645 CA2713283	40	P>S		No	ClinGen ExAC TOPMed gnomAD
rs749341517 CA2713282	41	K>E		No	ClinGen ExAC TOPMed gnomAD
CA88565004 rs895737307	43	T>I		No	ClinGen TOPMed
CA355261196 rs1367763271	45	N>S		No	ClinGen gnomAD
rs201776037 CA2713280	47	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA2713277 rs767911822	50	H>N		No	ClinGen ExAC gnomAD
rs767911822 CA2713278	50	H>Y		No	ClinGen ExAC gnomAD
rs755474976 CA2713276	51	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1560021017 CA355261133	54	L>F		No	ClinGen Ensembl
rs766889274 CA2713274	54	L>S		No	ClinGen ExAC gnomAD
rs1417010169 CA355261128	55	L>P		No	ClinGen TOPMed
rs753130380 CA2713273	56	H>L		No	ClinGen ExAC gnomAD
CA2713272 rs753130380	56	H>R		No	ClinGen ExAC gnomAD
CA88564907 rs879156658	57	T>A		No	ClinGen Ensembl
CA355261101 rs1193093277	60	S>P		No	ClinGen gnomAD
rs903038895 CA88564885	63	G>E		No	ClinGen TOPMed gnomAD
CA355261081 CA2713271 rs764890997	63	G>R		No	ClinGen ExAC TOPMed gnomAD
CA2713269 rs377329592	65	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1464962191 CA355261068	65	E>G		No	ClinGen gnomAD
CA355261046 rs1258879988	68	F>S		No	ClinGen gnomAD
rs1312703939 CA355261033	70	D>N		No	ClinGen gnomAD
CA2713267 rs768637468	71	P>S		No	ClinGen ExAC gnomAD
CA355261019 rs1560020987	72	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
COSM1670718 CA2713263 rs749340936	74	W>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2713264 rs772139582	74	W>L		No	ClinGen ExAC gnomAD
CA2713265 rs775509903	74	W>R		No	ClinGen ExAC gnomAD
rs1042452315 CA88564777	76	Q>*		No	ClinGen TOPMed
rs1576871786 CA355260982	77	E>G		No	ClinGen Ensembl
CA88564776 rs865894945	77	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA2713262 rs538335480	78	K>E		No	ClinGen 1000Genomes ExAC
CA2713261 rs756330474	80	K>R		No	ClinGen ExAC gnomAD
TCGA novel	82	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774101484 CA2713222	82	G>E		No	ClinGen ExAC gnomAD
rs1417027591 CA355286612	83	A>T		No	ClinGen TOPMed
rs1018121653 CA88588065	84	A>V		No	ClinGen TOPMed gnomAD
CA88588059 CA355286601 rs200955249	85	W>R		No	ClinGen gnomAD
CA355286592 rs1335981344	86	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2713220 rs201249608	87	C>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2713219 rs776718192	90	L>R		No	ClinGen ExAC TOPMed gnomAD
COSM3846801 CA355286530 rs1272045221	91	R>S	breast [Cosmic]	No	ClinGen cosmic curated TOPMed
CA2713217 rs768840348	92	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	93	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA88588021 rs146644226	94	S>G		No	ClinGen 1000Genomes
rs148003214 CA2713216	94	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA88588010 rs148003214	94	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA355286486 rs1390922425	95	N>S	Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs916030003 CA88588004	95	N>Y		No	ClinGen Ensembl
CA2713215 rs780459959	97	D>E		No	ClinGen ExAC gnomAD
rs1281332918 CA355286457	97	D>G		No	ClinGen TOPMed
rs746256582 CA2713213	99	H>R		No	ClinGen ExAC TOPMed gnomAD
rs772376694 CA2713214	99	H>Y		No	ClinGen ExAC gnomAD
CA2713212 rs779219979	100	K>R		No	ClinGen ExAC TOPMed gnomAD
CA355286424 rs779219979	100	K>T		No	ClinGen ExAC TOPMed gnomAD
CA355286418 rs1162536306	101	L>F		No	ClinGen gnomAD
rs1398820110 CA355286394	103	Y>H		No	ClinGen gnomAD
rs1450102315 CA355286371	106	L>P		No	ClinGen gnomAD
CA355286373 rs1404296009	106	L>V		No	ClinGen gnomAD
rs368616903 CA88585724	109	R>K		No	ClinGen TOPMed
rs775672300 CA2713181	111	M>I		No	ClinGen ExAC TOPMed gnomAD
rs760682469 CA2713182	111	M>V		No	ClinGen ExAC TOPMed gnomAD
rs980822883 CA88585708	114	T>I		No	ClinGen gnomAD
rs1476589753 CA355286321	114	T>P		No	ClinGen gnomAD
TCGA novel	119	A>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1270672134 CA355286287	119	A>T		No	ClinGen TOPMed
COSM1421069 CA88585688 rs917879069	121	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA2713180 rs767586121	121	R>W		No	ClinGen ExAC TOPMed gnomAD
CA88585687 rs965718467	122	Q>H		No	ClinGen TOPMed
rs759842682 CA2713179	123	R>S		No	ClinGen ExAC gnomAD
rs369108801 CA2713178	125	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA355286245 rs1278444992	126	M>V		No	ClinGen gnomAD
rs1216617340 CA355286235	127	P>A		No	ClinGen gnomAD
rs771479234 CA2713177	127	P>R		No	ClinGen ExAC gnomAD
rs982664312 CA88585678	128	S>G		No	ClinGen Ensembl
CA2713176 rs749682060	128	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1446776040 CA355286223 COSM1693834	129	P>S	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1313455699 CA355286209	131	R>P		No	ClinGen TOPMed gnomAD
rs1313455699 CA355286210	131	R>Q		No	ClinGen TOPMed gnomAD
CA2713175 rs773786344	131	R>W		No	ClinGen ExAC TOPMed gnomAD
CA355286181 rs1373158938	134	K>E		No	ClinGen gnomAD
rs770398165 CA2713156	135	V>L		No	ClinGen ExAC gnomAD
rs1202773118 CA355285584	136	V>I		No	ClinGen gnomAD
CA2713155 rs202176456	137	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355285511 rs1199908505	138	S>F		No	ClinGen TOPMed gnomAD
rs768274566 CA2713152	139	M>I		No	ClinGen ExAC TOPMed gnomAD
CA2713153 rs535109086	139	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1005338438 CA88582313	139	M>V		No	ClinGen TOPMed
TCGA novel	143	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2713151 rs746517469	143	D>G		No	ClinGen ExAC TOPMed gnomAD
CA88582298 rs566138478	143	D>N		No	ClinGen 1000Genomes gnomAD
CA2713150 rs779617472	144	K>E		No	ClinGen ExAC gnomAD
CA88582269 rs373171045	148	E>D		No	ClinGen ESP TOPMed gnomAD
rs887794619 CA88582285	148	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs143565570 CA2713149	149	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs745614101 CA2713148	149	R>S		No	ClinGen ExAC TOPMed gnomAD
CA2713147 rs148882452	151	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	151	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757137848 CA2713146	152	A>S		No	ClinGen ExAC gnomAD
CA2713145 rs753870726	152	A>V		No	ClinGen ExAC gnomAD
TCGA novel	153	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355285145 rs1233549353	153	L>P		No	ClinGen TOPMed
CA355285150 rs777583341	153	L>V		No	ClinGen ExAC TOPMed gnomAD
CA2713143 rs755016841	157	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1212810749 CA355284971	163	A>G		No	ClinGen gnomAD
CA88582208 rs190148109	165	P>L		No	ClinGen 1000Genomes
TCGA novel	168	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355284794 rs1216493758	170	R>G		No	ClinGen gnomAD
rs1213187577 CA355284773	171	D>N		No	ClinGen TOPMed
CA88582185 rs754938790	176	I>T		No	ClinGen TOPMed
rs756025968 CA2713123	179	H>D		No	ClinGen ExAC gnomAD
CA355284060 rs527849556	180	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA88581483 rs112806471	180	K>R		No	ClinGen Ensembl
CA355284050 rs1576865945	182	K>E		No	ClinGen Ensembl
CA355284034 rs1296943888	184	W>R		No	ClinGen gnomAD
rs1416689651 CA355284021	185	V>G		No	ClinGen gnomAD
CA355284010 rs1173095438	187	P>R		No	ClinGen gnomAD
rs780317900 CA2713121	187	P>S		No	ClinGen ExAC TOPMed gnomAD
CA355284013 rs780317900	187	P>T		No	ClinGen ExAC TOPMed gnomAD
CA355283960 rs112848372	194	Y>*		No	ClinGen TOPMed
CA355283962 rs750736629	194	Y>C		No	ClinGen ExAC gnomAD
CA2713118 rs750736629	194	Y>F		No	ClinGen ExAC gnomAD
CA88581470 rs561960012	194	Y>H		No	ClinGen 1000Genomes TOPMed gnomAD
CA88581471 rs561960012	194	Y>N		No	ClinGen 1000Genomes TOPMed gnomAD
rs765395646 CA2713117	195	N>D		No	ClinGen ExAC TOPMed gnomAD
rs1190064097 CA355283948	196	R>T		No	ClinGen gnomAD
rs754188894 CA2713115	198	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2713113 rs369744911	198	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs369744911 CA2713114	198	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs759059443 CA2713110	201	A>D		No	ClinGen ExAC gnomAD
CA355283917 rs1251573822	201	A>P		No	ClinGen gnomAD
rs1261540955 CA355283913	202	L>M		No	ClinGen TOPMed
rs911920710 CA88581414	203	P>S		No	ClinGen Ensembl
CA355283898 rs1361730388	204	Y>S		No	ClinGen TOPMed gnomAD
rs773924918 CA2713109	206	D>N		No	ClinGen ExAC TOPMed gnomAD
CA355283873 rs1276852654	207	H>R		No	ClinGen gnomAD
rs1173332560 CA355282610	212	E>G		No	ClinGen TOPMed gnomAD
CA355282619 rs1390976340	212	E>K		No	ClinGen gnomAD
CA355282606 rs1173332560	212	E>V		No	ClinGen TOPMed gnomAD
CA355282603 rs375091834	213	R>C	Variant assessed as Somatic; 4.647e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA2713093 rs375091834	213	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2713092 rs10513762 VAR_052043	213	R>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA88578989 rs375091834	213	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768016074 CA2713091	214	E>G		No	ClinGen ExAC gnomAD
rs1470879065 CA355282476	216	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs773754223 CA2713089	216	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1479454720 CA355282434	217	A>D		No	ClinGen TOPMed
rs766949247 CA2713088	218	R>C		No	ClinGen ExAC gnomAD
rs371604347 CA2713087	218	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2713086 rs773052856	219	I>V		No	ClinGen ExAC gnomAD
CA2713084 rs142273044	222	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2713083 rs142273044	222	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs530903735 CA2713085	222	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1576863335 CA355282204	223	K>E		No	ClinGen Ensembl
CA355282183 rs1289786636	223	K>M		No	ClinGen gnomAD
rs371947591 CA2713082	223	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs750505934 CA2713081	226	L>*		No	ClinGen ExAC gnomAD
CA2713079 rs367724197	227	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355281938 COSM1215505 rs1386759153	229	K>N	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA2713076 rs368089471	230	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA355281790 rs573627731	233	I>M		No	ClinGen 1000Genomes ExAC gnomAD
CA2713073 rs762120814	234	L>F		No	ClinGen ExAC TOPMed gnomAD
rs762120814 COSM170401 CA88578913	234	L>I	large_intestine Variant assessed as Somatic; impact. endometrium breast [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs753089551 CA2713072	235	L>S		No	ClinGen ExAC
CA355281712 rs1354740790	236	K>N		No	ClinGen TOPMed
CA355281687 rs1441593900	237	K>R		No	ClinGen gnomAD
CA2713069 rs781626814	238	F>L		No	ClinGen ExAC gnomAD
rs954878874 CA88578900	240	H>R		No	ClinGen TOPMed gnomAD
rs1287968531 CA355281413	242	A>G		No	ClinGen TOPMed
CA2713067 rs755525679	245	Q>P		No	ClinGen ExAC gnomAD
rs1576863239 CA355281301	246	K>E		No	ClinGen Ensembl
rs751046970 CA2713065	247	S>*		No	ClinGen ExAC gnomAD
CA355281254 rs751046970	247	S>L		No	ClinGen ExAC gnomAD
CA2713062 rs762650586	250	V>I		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q9HD33

No regional properties for Q9HD33

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9HD33

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.

1 GO annotations of molecular function

Name	Definition
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.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P36517	MRPL4	54S ribosomal protein L4, mitochondrial	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q08DT6	MRPL47	39S ribosomal protein L47, mitochondrial	Bos taurus (Bovine)	PR
Q8K2Y7	Mrpl47	39S ribosomal protein L47, mitochondrial	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MAAAGLALLC	RRVSSALKSS	RSLITPQVPA	CTGFFLSLLP	KSTPNVTSFH	QYRLLHTTLS
70	80	90	100	110	120
RKGLEEFFDD	PKNWGQEKVK	SGAAWTCQQL	RNKSNEDLHK	LWYVLLKERN	MLLTLEQEAK
130	140	150	160	170	180
RQRLPMPSPE	RLDKVVDSMD	ALDKVVQERE	DALRLLQTGQ	ERARPGAWRR	DIFGRIIWHK
190	200	210	220	230	240
FKQWVIPWHL	NKRYNRKRFF	ALPYVDHFLR	LEREKRARIK	ARKENLERKK	AKILLKKFPH

LAEAQKSSLV