AiPD: Autoinhibited Protein Database

Q9UGC7

Gene name	MTRF1L (MTRF1A)
Protein name	Peptide chain release factor 1-like, mitochondrial
Names	Mitochondrial translational release factor 1-like, mtRF1a
Species	Homo sapiens (Human)
KEGG Pathway	hsa:54516
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

4-83 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

4-83 (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

2 structures for Q9UGC7

Entry ID	Method	Resolution	Chain	Position	Source
7NQH	EM	350 A	BL	20-380	PDB
AF-Q9UGC7-F1	Predicted				AlphaFoldDB

371 variants for Q9UGC7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
TCGA novel	1	M>?	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366136200 rs1176851669	2	R>G		No	ClinGen TOPMed gnomAD
CA366136196 rs1176851669	2	R>W		No	ClinGen TOPMed gnomAD
CA366136172 rs1381124643	3	S>P		No	ClinGen TOPMed gnomAD
rs1183170299 CA366136167	3	S>Y		No	ClinGen gnomAD
CA150225019 rs1013507816	4	R>L		No	ClinGen TOPMed gnomAD
CA150225020 rs1013507816	4	R>Q		No	ClinGen TOPMed gnomAD
rs1285097399 CA366136127	5	V>D		No	ClinGen gnomAD
CA4060958 rs754166346	5	V>I		No	ClinGen ExAC gnomAD
CA366136072 CA150224965 rs927619893	7	W>C		No	ClinGen gnomAD
rs966191266 CA150224989	7	W>R		No	ClinGen TOPMed gnomAD
rs938960558 CA150224970	7	W>S		No	ClinGen TOPMed
CA4060955 rs750715079	8	G>V		No	ClinGen ExAC TOPMed gnomAD
CA366136030 rs1384830472	9	A>G		No	ClinGen gnomAD
rs1397191879 CA366136032	9	A>S		No	ClinGen TOPMed gnomAD
CA366136035 rs1397191879	9	A>T		No	ClinGen TOPMed gnomAD
CA366136029 rs1384830472	9	A>V		No	ClinGen gnomAD
rs768009264 CA366136021	10	A>S		No	ClinGen gnomAD
CA150224955 rs768009264	10	A>T		No	ClinGen gnomAD
CA366136005 rs1227920258	10	A>V		No	ClinGen TOPMed
CA4060953 rs761916948	11	R>G		No	ClinGen ExAC TOPMed gnomAD
rs751455388 CA4060952	11	R>P		No	ClinGen ExAC TOPMed gnomAD
CA150224942 rs751455388	11	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA366135999 rs761916948	11	R>W		No	ClinGen ExAC TOPMed gnomAD
CA4060951 rs111897291	12	W>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs956464731 CA150224922	14	W>C		No	ClinGen TOPMed
rs988997128 CA150224923	14	W>R		No	ClinGen TOPMed gnomAD
CA4060949 rs775145354	15	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1262417767 CA366135880	16	R>G		No	ClinGen gnomAD
CA150224921 rs532528454	16	R>H		No	ClinGen 1000Genomes TOPMed gnomAD
rs1208930355 CA366135823	17	R>Q		No	ClinGen gnomAD
CA366135829 rs1286394396	17	R>W		No	ClinGen TOPMed gnomAD
CA366135796 rs1584110941	19	V>D		No	ClinGen Ensembl
CA4060948 rs769691463	19	V>I		No	ClinGen ExAC TOPMed gnomAD
rs769691463 CA150224915	19	V>L		No	ClinGen ExAC TOPMed gnomAD
CA366135764 rs1285490070	20	G>A		No	ClinGen gnomAD
CA366135762 rs1285490070	20	G>D		No	ClinGen gnomAD
rs1562307589 CA366135747	21	P>S		No	ClinGen Ensembl
rs1244853795 CA366135704	23	R>C		No	ClinGen gnomAD
CA4060947 rs759089164	23	R>H		No	ClinGen ExAC TOPMed gnomAD
CA366135679 rs1402326033	24	R>Q		No	ClinGen gnomAD
CA366135682 rs1276893973	24	R>W		No	ClinGen gnomAD
rs977058410 CA150224893	25	P>R		No	ClinGen Ensembl
CA366135627 rs1312045852	27	S>N		No	ClinGen TOPMed
rs540122981 CA4060945	28	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA366135572 rs1242477597	29	G>D		No	ClinGen TOPMed
rs1158560297 CA366135585	29	G>S		No	ClinGen gnomAD
rs1461577009 CA366135493	31	P>L		No	ClinGen gnomAD
TCGA novel	34	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA150224868 rs1004217601	35	E>K		No	ClinGen Ensembl
CA150224862 rs1027475939	36	L>Q		No	ClinGen gnomAD
rs1462343505 CA366135388	37	F>L		No	ClinGen TOPMed
CA4060940 rs3818125 VAR_042725	38	T>A		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1254845800 CA366135368	38	T>S		No	ClinGen TOPMed
rs3818125 CA366135378	38	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA366135363 rs1291606151	39	R>W		No	ClinGen TOPMed gnomAD
CA366135352 rs1037251084	40	G>A		No	ClinGen TOPMed
rs1037251084 CA150224846	40	G>D		No	ClinGen TOPMed
CA366135347 rs1210021592	41	G>R		No	ClinGen gnomAD
rs1210021592 CA366135345	41	G>W		No	ClinGen gnomAD
rs1255533471 CA366135334	42	P>L		No	ClinGen gnomAD
rs1319203112 CA366135328	43	L>W		No	ClinGen TOPMed gnomAD
rs1584110576 CA366135264	48	E>A		No	ClinGen Ensembl
rs1398275947 CA366135270	48	E>K		No	ClinGen gnomAD
CA366135249 rs1394276878	49	R>H		No	ClinGen TOPMed
CA366135239 rs1394276878	49	R>P		No	ClinGen TOPMed
rs888345995 CA150224818	50	Q>H		No	ClinGen TOPMed
rs1562307286 CA366135226	50	Q>R		No	ClinGen Ensembl
rs903463895 CA150224815	51	A>E		No	ClinGen TOPMed gnomAD
CA366135215 rs1266626591	51	A>P		No	ClinGen gnomAD
rs1562307254 CA366135204	52	G>R		No	ClinGen Ensembl
rs764228914 CA4060931	55	A>D		No	ClinGen ExAC gnomAD
rs1476935965 CA366135141	56	H>Y		No	ClinGen gnomAD
rs764910779 CA366135083	59	V>F		No	ClinGen ExAC TOPMed gnomAD
CA4060927 rs764910779	59	V>I		No	ClinGen ExAC TOPMed gnomAD
CA4060926 rs759407635	60	R>G		No	ClinGen ExAC gnomAD
rs774770409 CA150224789 CA4060925	60	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1253172109 CA366135045	61	R>M		No	ClinGen TOPMed
CA4060924 rs766144763	61	R>W		No	ClinGen ExAC gnomAD
TCGA novel	63	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4060920 rs769046703	64	L>S		No	ClinGen ExAC TOPMed gnomAD
CA150224703 rs867291869	65	L>P		No	ClinGen gnomAD
CA150224705 rs1053945837	65	L>V		No	ClinGen Ensembl
CA366134932 rs150895723	66	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA4060917 rs150895723	66	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs781330838 CA4060915	67	V>G		No	ClinGen ExAC
rs913669915 CA150224688	67	V>L		No	ClinGen TOPMed
rs538377673 CA4060911	69	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs538377673 CA4060912	69	K>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA366134879 rs1427071214	69	K>T		No	ClinGen gnomAD
rs1175607244 CA366134823	72	N>K		No	ClinGen TOPMed
rs1438735152 CA366134810	73	E>A		No	ClinGen gnomAD
rs1180084167 CA366134769	75	E>A		No	ClinGen TOPMed gnomAD
CA366134768 rs1180084167	75	E>G		No	ClinGen TOPMed gnomAD
rs1463593671 CA366134771	75	E>K		No	ClinGen TOPMed
CA366134766 rs1180084167	75	E>V		No	ClinGen TOPMed gnomAD
CA366134752 rs3818123	76	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_042726 CA4060908 rs3818123	76	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA366134758 rs1457828482	76	R>W		No	ClinGen gnomAD
CA366134703 rs1286272598	79	R>Q		No	ClinGen TOPMed
CA366134689 rs1584110177	80	E>G		No	ClinGen Ensembl
CA366134675 rs1584110170	81	T>A		No	ClinGen Ensembl
rs766342074 CA4060905	82	E>K		No	ClinGen ExAC TOPMed gnomAD
rs143685757 CA4060904	83	H>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4060903 rs773047853	83	H>R		No	ClinGen ExAC gnomAD
rs1378547996 CA366134611	84	L>F		No	ClinGen gnomAD
CA4060902 rs148961474	84	L>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148961474 CA366134613	84	L>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761412668 CA4060901	85	L>M		No	ClinGen ExAC TOPMed gnomAD
CA4060900 rs534199888	85	L>P		No	ClinGen 1000Genomes ExAC gnomAD
CA366134580 rs1483044847	86	H>Q		No	ClinGen TOPMed
CA150224635 rs775643489	87	D>Y		No	ClinGen Ensembl
rs1279913524 CA366133128	89	N>S		No	ClinGen gnomAD
CA366133014 rs1382593439	92	L>*		No	ClinGen gnomAD
CA366132996 rs1366598785	93	R>G		No	ClinGen gnomAD
CA366132977 rs1291431835	93	R>K		No	ClinGen gnomAD
CA366132973 rs1438093272	93	R>S		No	ClinGen gnomAD
rs529425213 CA4060865	94	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA366132925 rs1197270347	96	A>G		No	ClinGen TOPMed
CA4060864 rs200877102	97	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	98	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	99	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366132700 rs1464557119	102	L>*		No	ClinGen TOPMed gnomAD
rs1426381971 CA366132683	102	L>F		No	ClinGen gnomAD
rs763633163 CA4060862	103	C>F		No	ClinGen ExAC gnomAD
CA4060859 rs747414946	107	I>V		No	ClinGen ExAC gnomAD
TCGA novel	109	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366132442 rs1469072639	109	Q>R		No	ClinGen gnomAD
rs766885502 CA4060858	113	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	114	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366131842 rs1396000477	117	L>F		No	ClinGen gnomAD
rs528253778 CA4060838	119	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA366131818 rs528253778	119	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA366131800 rs1232587951	120	P>L		No	ClinGen TOPMed
rs756599170 CA4060837 COSM124535	121	S>L	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1435766714 CA366131786	122	E>Q		No	ClinGen gnomAD
rs767892301 CA4060835	124	T>I		No	ClinGen ExAC gnomAD
rs1201784729 CA366131745	125	D>H		No	ClinGen TOPMed
CA4060832 rs764421711	126	E>D		No	ClinGen ExAC gnomAD
CA4060833 rs774580344	126	E>G	Variant assessed as Somatic; 0.0004218 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1423219599 CA366131703	128	D>H		No	ClinGen TOPMed gnomAD
rs1254022503 CA366131695	128	D>V		No	ClinGen gnomAD
rs1423219599 CA366131702	128	D>Y		No	ClinGen TOPMed gnomAD
CA4060830 rs775705970	130	I>T		No	ClinGen ExAC gnomAD
rs201768369 CA4060829	134	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1214087252 CA366131047	137	V>F		No	ClinGen gnomAD
rs745790624 CA4060828	137	V>G		No	ClinGen ExAC gnomAD
rs1169411372 CA366131037	138	G>R		No	ClinGen TOPMed gnomAD
rs1243467506 CA366131022	139	G>D		No	ClinGen gnomAD
CA4060827 rs776467823	139	G>S		No	ClinGen ExAC gnomAD
rs770714484 CA4060826	140	Q>K		No	ClinGen ExAC gnomAD
CA4060825 rs371188247	143	M>I		No	ClinGen ESP ExAC gnomAD
rs1415876445 CA366130923	145	F>L		No	ClinGen gnomAD
rs3950124 CA150220984	148	E>Q		No	ClinGen Ensembl
rs777341812 CA4060824	150	F>L		No	ClinGen ExAC gnomAD
CA4060823 COSM1075182 rs758042215	151	D>G	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs991556307 CA150220959	152	M>K		No	ClinGen Ensembl
rs1421791396 CA366130744	154	Q>*		No	ClinGen gnomAD
rs755252722 CA366130711	155	Q>P		No	ClinGen TOPMed
rs755252722 CA150220955	155	Q>R		No	ClinGen TOPMed
rs1385912343 CA366130700	156	Y>N		No	ClinGen gnomAD
rs1456483253 CA366130684	157	A>S		No	ClinGen gnomAD
rs1222350686 CA366130676	158	A>T		No	ClinGen TOPMed
rs1167024269 CA366130626	161	R>T		No	ClinGen TOPMed gnomAD
rs1475493126 CA366130591	163	H>R		No	ClinGen gnomAD
rs778370665 CA4060821	165	E>A		No	ClinGen ExAC gnomAD
CA366130507 rs1448468500	168	E>A		No	ClinGen gnomAD
CA366130515 rs1191209933	168	E>Q		No	ClinGen gnomAD
CA366130469 rs1243212025	170	F>I		No	ClinGen gnomAD
CA4060819 rs147996517	170	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA366130439 rs1182509152	171	P>L		No	ClinGen gnomAD
CA4060818 rs767931902	172	S>G		No	ClinGen ExAC gnomAD
rs12660881 CA150220611 VAR_042727	177	L>F		No	ClinGen UniProt Ensembl dbSNP
rs1001547859 CA150220606	177	L>R		No	ClinGen TOPMed
CA4060777 rs747480833	179	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs907291784 CA150220605	180	A>P		No	ClinGen Ensembl
rs1397584621 CA366129403	181	S>C		No	ClinGen TOPMed
CA4060776 rs778449821	182	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1357198011 CA366129377	183	S>N		No	ClinGen gnomAD
rs370025443 CA4060775	184	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs370025443 CA366129361	184	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA4060774 rs753120662	185	G>A		No	ClinGen ExAC gnomAD
CA4060773 rs779401000	186	G>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4060772 rs755142691	186	G>D		No	ClinGen ExAC TOPMed gnomAD
CA366129339 rs779401000	186	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1438686273	186	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs979109947 CA150220579	187	S>L		No	ClinGen TOPMed gnomAD
rs1163480070 CA366129289	189	A>T		No	ClinGen gnomAD
CA4060771 rs754139707	189	A>V		No	ClinGen ExAC gnomAD
CA150220574 rs967840882	191	R>G		No	ClinGen TOPMed gnomAD
rs1204043176 CA366129196	192	H>R		No	ClinGen TOPMed
CA366129154 rs1193362252	193	M>I		No	ClinGen gnomAD
rs1249123885 CA366129167	193	M>K		No	ClinGen TOPMed
rs1487482908 CA366129081	196	E>Q		No	ClinGen TOPMed gnomAD
rs1287795953 CA366129011	198	G>D		No	ClinGen TOPMed gnomAD
rs576731150 CA4060768	198	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1287795953 CA366129008	198	G>V		No	ClinGen TOPMed gnomAD
rs1429474004 CA366129003	199	V>I		No	ClinGen TOPMed
rs1336814585 CA366128951	201	R>K		No	ClinGen gnomAD
CA366128933 rs1362195732	202	V>L		No	ClinGen gnomAD
CA150220533 rs1054681303	203	Q>*		No	ClinGen Ensembl
CA366128896 rs1293780730	204	R>G		No	ClinGen gnomAD
rs767451675 CA4060766	204	R>S		No	ClinGen ExAC gnomAD
CA4060765 rs761530340	209	E>K		No	ClinGen ExAC gnomAD
rs1002867557 CA150220517	210	K>R		No	ClinGen TOPMed
rs774011789 CA4060764	213	R>C		No	ClinGen ExAC gnomAD
rs375981966 CA4060763	213	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
VAR_042728 CA4060761 rs3192723	214	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4060760 rs200658267	215	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1170539465 CA366128721	215	H>Y		No	ClinGen gnomAD
rs1422021174 CA366128693	216	T>S		No	ClinGen gnomAD
rs745385150 CA4060759	219	M>T		No	ClinGen ExAC TOPMed
CA150220490 rs986607190	220	T>I		No	ClinGen gnomAD
rs986607190 CA366128632	220	T>S		No	ClinGen gnomAD
CA366128610 rs1245647035	221	V>A		No	ClinGen TOPMed
rs778357906 CA4060758	221	V>I		No	ClinGen ExAC gnomAD
rs1487195446 CA366128598	222	A>G		No	ClinGen TOPMed
CA4060757 rs772706234	223	I>T		No	ClinGen ExAC gnomAD
rs748727246 CA4060756	225	P>H		No	ClinGen ExAC gnomAD
rs1197871617 CA366128480	228	T>I		No	ClinGen TOPMed gnomAD
rs755413374 CA4060754	229	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA366128469 rs1305611618	229	E>G		No	ClinGen gnomAD
CA366127681 rs1379809415	230	I>V		No	ClinGen gnomAD
rs751405319 CA150219811	233	V>E		No	ClinGen ExAC TOPMed gnomAD
rs751405319 CA4060730	233	V>G		No	ClinGen ExAC TOPMed gnomAD
rs764108384 CA4060729	234	I>T		No	ClinGen ExAC gnomAD
CA366127580 rs1252612693	235	N>K		No	ClinGen gnomAD
CA4060728 rs533005741	236	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs559175461 CA4060726	238	D>A		No	ClinGen 1000Genomes ExAC gnomAD
rs547542922 COSM4006175 COSM4006174 CA4060725	239	L>F	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA366127458 rs1212657960	239	L>W		No	ClinGen TOPMed gnomAD
CA366127343 rs1259681833	244	K>E		No	ClinGen gnomAD
rs1236280603 CA366127338	244	K>R		No	ClinGen gnomAD
rs765949698 CA4060724	245	R>*		No	ClinGen ExAC gnomAD
rs765949698 CA4060723	245	R>G		No	ClinGen ExAC gnomAD
rs141113036 CA4060722	245	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA366127251 rs1225066551	249	A>T		No	ClinGen gnomAD
CA366127239 rs1373233029	250	G>R		No	ClinGen TOPMed
rs1431185981 CA366127213	251	G>E		No	ClinGen TOPMed
CA366127201 rs1562299401	252	Q>*		No	ClinGen Ensembl
CA4060720 CA150219755 rs774660616	252	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1395945816 CA366127198	252	Q>P		No	ClinGen gnomAD
rs1395945816 CA366127194	252	Q>R		No	ClinGen gnomAD
CA366127057 rs1440690862	256	T>I		No	ClinGen TOPMed
TCGA novel	257	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366127039 rs1360161707	257	T>M		No	ClinGen TOPMed gnomAD
CA366127014 rs141301101	258	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1344596050 CA366126956	261	V>D		No	ClinGen TOPMed
rs746058330 CA4060714	261	V>I		No	ClinGen ExAC
CA4060712 rs751901168	262	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4060713 rs781422650	262	R>W		No	ClinGen ExAC TOPMed gnomAD
CA4060707 rs778823773	263	I>M		No	ClinGen ExAC gnomAD
rs752630363 CA4060709	263	I>R		No	ClinGen ExAC TOPMed gnomAD
rs752630363 CA4060708	263	I>T		No	ClinGen ExAC TOPMed gnomAD
CA4060706 rs754854078	265	H>R		No	ClinGen ExAC TOPMed gnomAD
CA366126858 rs1192777042	266	L>F		No	ClinGen TOPMed
rs769459898 CA150219683	266	L>P		No	ClinGen TOPMed
CA4060704 rs766140783	267	P>L		No	ClinGen ExAC gnomAD
CA4060703 rs760033775	268	T>A		No	ClinGen ExAC gnomAD
CA366126801 rs1450968325	268	T>R		No	ClinGen TOPMed
rs755773758 CA4060681	269	G>D		No	ClinGen ExAC TOPMed gnomAD
CA4060682 rs755773758	269	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1339198796 CA366126562	271	V>L		No	ClinGen TOPMed gnomAD
CA366126517 rs1244371948	274	C>R		No	ClinGen gnomAD
CA4060679 rs767021417	277	E>A		No	ClinGen ExAC gnomAD
rs750091886 CA4060680	277	E>K		No	ClinGen ExAC TOPMed gnomAD
rs761259625 CA4060678	279	S>C		No	ClinGen ExAC gnomAD
rs1302889419 CA366126419	279	S>P		No	ClinGen gnomAD
TCGA novel	279	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4060676 rs765739402	280	Q>P		No	ClinGen ExAC gnomAD
rs189467843 CA366126343	285	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4060674 rs189467843	285	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA366126327 rs1373325122	287	A>T		No	ClinGen gnomAD
CA4060672 rs766703793	289	T>K		No	ClinGen ExAC gnomAD
CA4060671 rs760924913	290	K>E		No	ClinGen ExAC TOPMed gnomAD
CA366126277 rs1584093056	290	K>N		No	ClinGen Ensembl
rs1216539911 CA366126272	291	L>V		No	ClinGen gnomAD
rs773341394 CA150218554	292	R>C		No	ClinGen ExAC TOPMed gnomAD
rs773341394 CA4060670	292	R>G		No	ClinGen ExAC TOPMed gnomAD
CA4060669 rs772144836	292	R>H		No	ClinGen ExAC TOPMed gnomAD
CA366126231 rs1437724061	293	A>S		No	ClinGen gnomAD
rs748255134 CA4060668	295	L>P		No	ClinGen ExAC gnomAD
rs774360731 CA4060667	296	Y>*		No	ClinGen ExAC gnomAD
rs768707161 CA4060666	297	S>G		No	ClinGen ExAC gnomAD
CA366126140 rs1373373612 COSM3702922 COSM3702921	298	M>I	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
CA366126149 rs1584092985	298	M>K		No	ClinGen Ensembl
rs749292296 CA4060665	298	M>V		No	ClinGen ExAC gnomAD
CA150218515 rs1054543062	299	H>N		No	ClinGen TOPMed gnomAD
rs779876431 CA4060664	299	H>P		No	ClinGen ExAC gnomAD
rs1335123902 CA366126116	300	L>P		No	ClinGen gnomAD
CA366126115 rs1335123902	300	L>R		No	ClinGen gnomAD
rs931770540 CA150218509	300	L>V		No	ClinGen Ensembl
rs755902714 CA4060663	302	E>*		No	ClinGen ExAC gnomAD
rs1370881373 CA366126089	302	E>V		No	ClinGen gnomAD
CA150218504 rs935752801	303	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA366126080 rs935752801	303	E>K		No	ClinGen TOPMed gnomAD
rs1316095904 CA366126050	304	I>K		No	ClinGen TOPMed
CA4060662 rs745492190	304	I>V		No	ClinGen ExAC TOPMed
rs780729367 CA4060660	305	N>K		No	ClinGen ExAC
rs1045257285 CA150218471	310	A>T		No	ClinGen TOPMed
rs1173688437 CA366125831	313	I>N		No	ClinGen gnomAD
CA366125808 rs1469137338	314	Q>R		No	ClinGen gnomAD
rs768903076 CA4060639	315	I>F		No	ClinGen ExAC gnomAD
rs1417659796 CA366125077	315	I>T		No	ClinGen TOPMed gnomAD
rs749206208 CA366125052	316	G>E		No	ClinGen ExAC gnomAD
CA366125063 rs1186284321	316	G>R		No	ClinGen gnomAD
rs749206208 CA4060638	316	G>V		No	ClinGen ExAC gnomAD
CA4060637 rs775321244	317	S>N		No	ClinGen ExAC gnomAD
CA4060636 rs769580816	318	K>E		No	ClinGen ExAC TOPMed gnomAD
rs745661552 CA4060635	319	G>R		No	ClinGen ExAC gnomAD
TCGA novel	320	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs151055997 CA4060633 CA4060634	321	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1329748071 CA366124886	325	R>G		No	ClinGen TOPMed gnomAD
rs201452521 CA4060632	325	R>K		No	ClinGen 1000Genomes ExAC gnomAD
rs777235446 CA4060631	326	T>I		No	ClinGen ExAC gnomAD
CA366124855 rs1429575292	327	Y>C		No	ClinGen TOPMed gnomAD
CA4060630 rs757937919	327	Y>N		No	ClinGen ExAC gnomAD
rs1394438230 CA366124796	330	P>S		No	ClinGen TOPMed gnomAD
rs201682355 CA4060628	331	Q>R		No	ClinGen ExAC gnomAD
CA366124752 rs1414964827	332	N>H		No	ClinGen gnomAD
CA4060626 rs756437015	332	N>K		No	ClinGen ExAC gnomAD
rs142813473 CA4060627	332	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3697616 CA366124734 rs1216613841	333	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1243961715 CA366124735	333	R>W		No	ClinGen TOPMed gnomAD
rs767980441 CA4060624	336	D>E		No	ClinGen ExAC TOPMed gnomAD
rs750746290 CA4060625	336	D>N		No	ClinGen ExAC gnomAD
rs762100385 CA4060623	337	H>N		No	ClinGen ExAC gnomAD
rs1562296999 CA366124668	338	R>S		No	ClinGen Ensembl
CA366124664 rs1191194262	339	I>V		No	ClinGen TOPMed
rs1313122485 CA366124634	341	K>E		No	ClinGen gnomAD
TCGA novel	341	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751869718 CA4060622	342	T>M	Variant assessed as Somatic; 0.0009243 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1170908377 CA366124596	343	L>P		No	ClinGen TOPMed
rs148517090 CA4060621	344	H>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA366124542 rs1463821605	347	E>*		No	ClinGen TOPMed
rs1435197858 CA366124516	348	T>S		No	ClinGen gnomAD
rs145697730 CA366124507	349	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1562296937 CA366124493	349	F>L		No	ClinGen Ensembl
CA366124500 rs1324542783	349	F>S		No	ClinGen gnomAD
rs145697730 CA4060619	349	F>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA366124477 rs1554230827	350	M>T		No	ClinGen Ensembl
rs568513948 CA4060616	352	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4060617 rs769616447	352	G>R		No	ClinGen ExAC gnomAD
rs1273062354 CA366124363	354	Y>*		No	ClinGen TOPMed
rs1220580697 CA366124333	357	D>H		No	ClinGen TOPMed
TCGA novel	358	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1421952806 CA366124275	359	L>P		No	ClinGen gnomAD
CA4060613 rs770754126	362	S>P		No	ClinGen ExAC gnomAD
CA366124188 rs1489410443	364	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs371671714 CA4060611	365	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs550359476 CA4060610	367	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA366124122 rs1292466499	367	A>V		No	ClinGen TOPMed
rs1245520747 CA366124100	368	D>G		No	ClinGen TOPMed
CA4060609 rs4034612	368	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs778549296 CA4060608	369	Y>*		No	ClinGen ExAC gnomAD
CA4060607 rs756562358	370	E>Q		No	ClinGen ExAC gnomAD
CA4060606 rs531847441	371	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA366123983 rs1193779418	372	L>F		No	ClinGen TOPMed
CA366123985 rs1443823384	372	L>S		No	ClinGen gnomAD
rs781659799 CA4060605	375	I>S		No	ClinGen ExAC gnomAD
CA366123900 rs1440476843	376	I>T		No	ClinGen gnomAD
rs757727586 CA4060604	376	I>V		No	ClinGen ExAC gnomAD
CA366123879 rs1422396773	377	S>F		No	ClinGen TOPMed
CA4060603 rs751782367	377	S>T		No	ClinGen ExAC gnomAD
CA4060602 rs764423680	378	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs764423680 CA366123864	378	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA366123837 rs763021372 CA366123832	379	K>N		No	ClinGen ExAC TOPMed gnomAD
CA4060599 rs763373765	380	V>L		No	ClinGen ExAC
CA4060598 rs775047239	381	V>C		No	ClinGen ExAC
rs1414233166 CA366123809	381	V>E		No	ClinGen TOPMed
rs769203506 CA4060600	381	V>K		No	ClinGen ExAC gnomAD

No associated diseases with Q9UGC7

3 regional properties for Q9UGC7

Type	Name	Position	InterPro Accession
domain	AAA+ ATPase domain	156 - 291	IPR003593
domain	ATPase, AAA-type, core	160 - 288	IPR003959
conserved_site	ATPase, AAA-type, conserved site	261 - 280	IPR003960

Functions

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

2 GO annotations of cellular component

Name	Definition
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
translation release factor activity	Involved in catalyzing the release of a nascent polypeptide chain from a ribosome.

1 GO annotations of biological process

Name	Definition
mitochondrial translational termination	The process resulting in the release of a polypeptide chain from the ribosome in a mitochondrion, usually in response to a termination codon (note that mitochondria use variants of the universal genetic code that differ between different taxa).

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9H3J6	MTRFR	Mitochondrial translation release factor in rescue	Homo sapiens (Human)	PR
Q4V7E5	Mtrf1l	Peptide chain release factor 1-like, mitochondrial	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MRSRVLWGAA	RWLWPRRAVG	PARRPLSSGS	PPLEELFTRG	GPLRTFLERQ	AGSEAHLKVR
70	80	90	100	110	120
RPELLAVIKL	LNEKERELRE	TEHLLHDENE	DLRKLAENEI	TLCQKEITQL	KHQIILLLVP
130	140	150	160	170	180
SEETDENDLI	LEVTAGVGGQ	EAMLFTSEIF	DMYQQYAAFK	RWHFETLEYF	PSELGGLRHA
190	200	210	220	230	240
SASIGGSEAY	RHMKFEGGVH	RVQRVPKTEK	QGRVHTSTMT	VAILPQPTEI	NLVINPKDLR
250	260	270	280	290	300
IDTKRASGAG	GQHVNTTDSA	VRIVHLPTGV	VSECQQERSQ	LKNKELAMTK	LRAKLYSMHL
310	320	330	340	350	360
EEEINKRQNA	RKIQIGSKGR	SEKIRTYNFP	QNRVTDHRIN	KTLHDLETFM	QGDYLLDELV
370
QSLKEYADYE	SLVEIISQKV