AiPD: Autoinhibited Protein Database

Q99551

Gene name	MTERF1 (MTERF)
Protein name	Transcription termination factor 1, mitochondrial
Names	Mitochondrial transcription termination factor 1, mTERF, mTERF1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:7978
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

32-108 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

32-108 (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

9 structures for Q99551

Entry ID	Method	Resolution	Chain	Position	Source
3MVA	X-ray	220 A	O	57-396	PDB
3MVB	X-ray	279 A	O	57-396	PDB
3N6S	X-ray	310 A	A	56-399	PDB
3N7Q	X-ray	240 A	A	99-399	PDB
5CKY	X-ray	262 A	O	73-396	PDB
5CO0	X-ray	265 A	O	73-396	PDB
5CRJ	X-ray	259 A	O	73-396	PDB
5CRK	X-ray	248 A	O	73-396	PDB
AF-Q99551-F1	Predicted				AlphaFoldDB

352 variants for Q99551

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1236436063 CA368118257	2	Q>K		No	ClinGen gnomAD
CA162887560 rs149288093	5	S>C		No	ClinGen ESP
rs753944936 CA4335655	10	S>N		No	ClinGen ExAC gnomAD
CA368118188 rs1455457384	10	S>R		No	ClinGen gnomAD
CA162887017 rs978785472	11	I>V		No	ClinGen TOPMed
rs756157238 CA4335636	12	S>L		No	ClinGen ExAC gnomAD
rs913241659 CA162887016	14	G>V		No	ClinGen TOPMed
CA368118154 rs1471736955	16	N>Y		No	ClinGen gnomAD
CA4335634 rs186094669	17	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4335632 rs774827024	20	I>V		No	ClinGen ExAC gnomAD
CA368118123 rs766900295	21	M>L		No	ClinGen ExAC gnomAD
rs766900295 CA4335631	21	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs763467605 CA4335630	22	A>V		No	ClinGen ExAC gnomAD
CA368118109 rs1207471775	23	P>R		No	ClinGen gnomAD
rs989809497 CA162887015	23	P>T		No	ClinGen TOPMed gnomAD
TCGA novel	24	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773621363 CA4335629	25	N>D		No	ClinGen ExAC gnomAD
rs138600221 CA4335628	25	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs764582792 CA162887014	28	H>N		No	ClinGen Ensembl
rs1246072093 CA368118077	28	H>P		No	ClinGen TOPMed gnomAD
rs1246072093 CA368118076	28	H>R		No	ClinGen TOPMed gnomAD
rs747625048 CA4335627	29	M>T		No	ClinGen ExAC gnomAD
rs150415937 CA162887013	30	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
CA368118060 rs1310967960	30	R>S		No	ClinGen TOPMed gnomAD
rs143117433 CA4335625	32	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs143117433 CA4335626	32	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA4335624 rs376540146	38	R>I		No	ClinGen ESP ExAC TOPMed
CA4335620 rs199551651	41	M>I		No	ClinGen ExAC TOPMed gnomAD
CA4335621 rs745754102	41	M>K		No	ClinGen ExAC gnomAD
rs758161722 CA4335622	41	M>L		No	ClinGen ExAC gnomAD
CA4335619 rs377191303	43	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs377191303 CA4335618	43	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs190837494 CA4335617	43	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1367696451 CA368117966	44	F>L		No	ClinGen gnomAD
CA368117960 rs1562844419	45	S>L		No	ClinGen Ensembl
rs751851767 CA4335614	47	E>D		No	ClinGen ExAC gnomAD
CA368117934 rs1187448608	49	I>T		No	ClinGen TOPMed gnomAD
CA368117937 rs1332745605	49	I>V		No	ClinGen TOPMed
rs950414620 CA162887011	51	K>R		No	ClinGen Ensembl
rs763230408 CA4335612	52	S>*		No	ClinGen ExAC gnomAD
CA4335611 rs201580782	53	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368117895 rs1210087095	55	F>C		No	ClinGen gnomAD
rs765644769 CA4335610	56	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1025418546 CA162887009	59	G>C		No	ClinGen TOPMed
CA4335608 rs762369315	62	C>Y		No	ClinGen ExAC gnomAD
rs1343573526 CA368117846	63	H>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs776084977 CA4335607	63	H>R		No	ClinGen ExAC gnomAD
CA4335606 rs768202029	64	N>K		No	ClinGen ExAC gnomAD
CA4335605 rs144315661	65	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4335604 rs775131789	67	S>G		No	ClinGen ExAC gnomAD
rs1456884124 CA368117817	67	S>N		No	ClinGen gnomAD
CA4335602 rs771846550	68	E>A		No	ClinGen ExAC gnomAD
CA4335601 rs146357360	69	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1198871468 CA368117763	74	D>E		No	ClinGen gnomAD
rs369700998 CA4335600	74	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1396395419 CA368117765	74	D>V		No	ClinGen gnomAD
CA4335598 rs142360964	78	N>K		No	ClinGen ESP ExAC TOPMed
rs147741556 CA4335597 CA368117735	79	L>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1562844265 CA368117737	79	L>V		No	ClinGen Ensembl
rs781374634 CA4335596	80	L>I		No	ClinGen ExAC gnomAD
rs1483570396 CA368117716	82	M>T		No	ClinGen gnomAD
CA368117720 rs1204404948	82	M>V		No	ClinGen TOPMed
rs1247478646 CA368117706	83	G>V		No	ClinGen TOPMed
rs1274618351 CA368117704	84	V>I		No	ClinGen gnomAD
CA4335594 rs751763789	85	D>Y		No	ClinGen ExAC gnomAD
rs1195555647 CA368117687	86	I>S		No	ClinGen TOPMed
rs1350626220 CA368117684	87	D>H		No	ClinGen gnomAD
rs199603020 CA4335592	88	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200478408 CA4335591	90	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	91	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4335590 rs765670691	92	R>*		No	ClinGen ExAC TOPMed gnomAD
CA4335589 rs371838988	92	R>P		No	ClinGen ESP ExAC gnomAD
CA162887008 rs371838988	92	R>Q		No	ClinGen ESP ExAC gnomAD
TCGA novel	94	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368513161 CA4335588	96	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	100	M>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4335586 rs760193918	101	I>F		No	ClinGen ExAC gnomAD
rs775126460 CA4335585	101	I>N		No	ClinGen ExAC TOPMed gnomAD
CA368117584 rs1172717346	102	T>A		No	ClinGen gnomAD
rs759273093 CA4335583	105	Q>*		No	ClinGen ExAC gnomAD
CA368117538 rs749196036	108	K>N		No	ClinGen ExAC gnomAD
CA4335581 rs771287193	108	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1203369412 CA368117535	109	M>V		No	ClinGen gnomAD
CA4335579 rs777856073	110	F>S		No	ClinGen ExAC gnomAD
rs768797145 CA4335578	111	L>R		No	ClinGen ExAC gnomAD
rs1200008060 CA368117513	112	L>F		No	ClinGen gnomAD
CA368117515 rs1200008060	112	L>I		No	ClinGen gnomAD
rs747071954 CA4335577	112	L>P		No	ClinGen ExAC TOPMed gnomAD
CA162887007 rs1011629032	114	K>E		No	ClinGen TOPMed
rs376287331 CA162887006	115	G>R		No	ClinGen ESP TOPMed gnomAD
CA162887005 rs891855672	116	A>V		No	ClinGen Ensembl
CA4335575 rs148655332	117	S>G		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	119	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4335573 rs551906573	120	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA4335572 rs779096548	121	I>F		No	ClinGen ExAC TOPMed gnomAD
CA162887004 rs372379670	121	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs201335490 CA4335570	122	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs764574779 CA4335569	123	S>N		No	ClinGen ExAC TOPMed gnomAD
CA368117434 rs1262701551	125	I>V		No	ClinGen TOPMed
rs1457442996 CA368117425	126	S>*		No	ClinGen gnomAD
CA162887003 rs747882705	126	S>P		No	ClinGen gnomAD
CA4335568 rs368433062	130	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs752117598 CA4335567	130	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA368117399 rs1476387354	131	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4335566 rs767105039	132	I>V		No	ClinGen ExAC TOPMed gnomAD
CA4335565 rs374588825	134	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs774086628 CA4335564	134	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs773197455 CA4335562	135	T>I		No	ClinGen ExAC gnomAD
CA4335561 rs773197455	135	T>S		No	ClinGen ExAC gnomAD
CA4335560 rs748153405	136	P>A		No	ClinGen ExAC TOPMed gnomAD
CA4335559 rs748153405	136	P>S		No	ClinGen ExAC TOPMed gnomAD
CA4335557 rs202031297	137	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs929058689 CA162887002	138	N>S		No	ClinGen TOPMed gnomAD
rs746035057 CA4335556	139	L>P		No	ClinGen ExAC gnomAD
rs181549251 CA4335555	141	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA368117344 rs181549251	141	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4335554 rs757536971	142	R>W		No	ClinGen ExAC TOPMed gnomAD
CA368117328 rs1301136104	143	W>*		No	ClinGen TOPMed
rs749652785 CA4335553	143	W>R		No	ClinGen ExAC gnomAD
CA368117304 rs1156462584	146	W>C		No	ClinGen gnomAD
TCGA novel	147	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368117295 rs1405537305	148	K>E		No	ClinGen TOPMed
CA368117296 rs1405537305	148	K>Q		No	ClinGen TOPMed
CA4335551 rs756591320	149	I>T		No	ClinGen ExAC gnomAD
rs776633473 CA4335550	150	V>G		No	ClinGen ExAC gnomAD
rs751113049 CA4335547	153	D>E		No	ClinGen ExAC gnomAD
rs1250431938 CA368117263	153	D>G		No	ClinGen TOPMed gnomAD
rs754519157 CA4335549	153	D>H		No	ClinGen ExAC gnomAD
CA4335548 rs754519157	153	D>N		No	ClinGen ExAC gnomAD
CA162887000 rs561056750	154	L>I		No	ClinGen TOPMed
TCGA novel	155	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762760179 CA4335545	156	I>T		No	ClinGen ExAC TOPMed gnomAD
CA4335546 rs766116116	156	I>V		No	ClinGen ExAC gnomAD
TCGA novel	159	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368117224 rs1323359013	159	I>S		No	ClinGen TOPMed gnomAD
CA162886999 rs546581646	159	I>V		No	ClinGen gnomAD
rs1322509194 CA368117205	162	R>C		No	ClinGen TOPMed gnomAD
CA4335544 rs773107088	162	R>H		No	ClinGen ExAC gnomAD
TCGA novel	163	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375573815 CA4335543	164	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA368117178 rs1490621299	166	S>F		No	ClinGen TOPMed
TCGA novel	167	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4335541 rs776659653	168	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1438210767 CA368117166	168	F>Y		No	ClinGen gnomAD
CA4335540 rs745950270	169	R>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	169	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373715978 CA4335538	169	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4335539 COSM3412467 rs745950270	169	R>W	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4335537 rs771115686	171	N>S		No	ClinGen ExAC TOPMed gnomAD
rs970254206 CA162886998	172	N>S		No	ClinGen Ensembl
rs749561015 CA4335536	177	E>D		No	ClinGen ExAC gnomAD
CA368117108 rs1388429054	177	E>G		No	ClinGen gnomAD
rs1449339138 CA368117112	177	E>K		No	ClinGen gnomAD
CA4335535 rs778063867	178	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1246336344 CA368117096	179	N>H		No	ClinGen gnomAD
CA162886997 rs1011722413	179	N>K		No	ClinGen Ensembl
rs756534818 CA4335534	179	N>S		No	ClinGen ExAC gnomAD
CA4335533 rs748538861	180	I>K		No	ClinGen ExAC TOPMed gnomAD
CA368117089 rs748538861	180	I>T		No	ClinGen ExAC TOPMed gnomAD
CA368117091 rs1449626446	180	I>V		No	ClinGen gnomAD
CA162886996 rs781728055	181	K>N		No	ClinGen ExAC gnomAD
rs1294772121 CA368117068	183	L>H		No	ClinGen gnomAD
rs1321740705 CA368117061	184	Y>C		No	ClinGen gnomAD
rs145815151 CA4335531	185	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1273846116 CA368117048	186	V>A		No	ClinGen TOPMed gnomAD
rs1367949431 CA368117052	186	V>I		No	ClinGen gnomAD
rs751075525 CA4335530	190	R>C		No	ClinGen ExAC TOPMed gnomAD
rs758097628 CA4335528	190	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs758097628 CA4335529	190	R>P		No	ClinGen ExAC gnomAD
CA4335526 rs199534810	192	C>F		No	ClinGen ExAC TOPMed gnomAD
rs750119399 CA4335527	192	C>G		No	ClinGen ExAC
CA368117006 rs1429675659	193	L>P		No	ClinGen gnomAD
rs901845676 CA162886995	194	C>R		No	ClinGen Ensembl
CA4335525 rs761670210	195	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4335524 rs200438840	195	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4335523 rs529712936	197	L>S		No	ClinGen 1000Genomes ExAC gnomAD
rs746986129 CA4335522	199	N>S		No	ClinGen ExAC TOPMed gnomAD
CA368116965 rs1243803522	200	A>D		No	ClinGen TOPMed
rs202042766 CA162886993	200	A>T		No	ClinGen 1000Genomes
rs560687091 CA4335521	202	R>C		No	ClinGen 1000Genomes ExAC gnomAD
CA4335520 rs149835747	202	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs763123258 CA4335519	203	T>A		No	ClinGen ExAC gnomAD
rs780076051 CA162886992	204	F>L		No	ClinGen gnomAD
CA162886991 rs1016810433	204	F>S		No	ClinGen TOPMed gnomAD
rs1204914610 CA368116938	205	S>C		No	ClinGen TOPMed
rs773428407 CA4335518	205	S>P		No	ClinGen ExAC gnomAD
rs201515058 CA4335516	206	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1217146078 CA368116927	207	S>N		No	ClinGen gnomAD
CA4335514 rs199929836	209	D>E		No	ClinGen 1000Genomes ExAC gnomAD
CA4335515 rs781476195	209	D>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	209	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA162886989 rs747564258 CA4335513	211	N>K		No	ClinGen ExAC TOPMed gnomAD
CA368116901 rs1409590704	211	N>S		No	ClinGen gnomAD
CA4335512 rs779661381	213	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs139864199 CA4335510	213	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778697132 CA4335509	214	M>V		No	ClinGen ExAC TOPMed gnomAD
CA4335507 rs753639467	217	F>S		No	ClinGen ExAC gnomAD
rs1584461279 CA368116850	218	L>F		No	ClinGen Ensembl
CA162886988 rs866810735	219	Q>*		No	ClinGen Ensembl
CA4335506 rs763844099	221	A>T		No	ClinGen ExAC gnomAD
rs760617203 CA4335505	221	A>V		No	ClinGen ExAC gnomAD
CA162886987 rs745396888	222	G>A		No	ClinGen Ensembl
CA4335502 rs530570909	222	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA4335503 rs530570909	222	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1042964263 CA162886986	223	L>V		No	ClinGen TOPMed
CA4335500 rs761977328	227	H>D		No	ClinGen ExAC TOPMed gnomAD
CA4335499 rs761977328	227	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs777026878 CA4335498	228	N>S		No	ClinGen ExAC gnomAD
rs768925012 CA4335497	230	P>T		No	ClinGen ExAC gnomAD
rs17856025 CA4335495 RCV000967055 VAR_053785	231	A>T		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs771648811 CA4335494	231	A>V		No	ClinGen ExAC TOPMed gnomAD
CA4335493 rs745368793	232	D>G		No	ClinGen ExAC gnomAD
CA4335492 rs756972757	234	V>F		No	ClinGen ExAC gnomAD
CA368116738 rs1214203429	237	I>V		No	ClinGen TOPMed
TCGA novel	238	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA162886985 rs1039321764	238	I>S		No	ClinGen TOPMed
CA4335488 rs143980432	242	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143980432 CA4335490	242	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143980432 CA4335489	242	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4335487 rs755910818	245	L>*		No	ClinGen ExAC gnomAD
CA4335486 rs752576294	248	S>N		No	ClinGen ExAC gnomAD
CA368116651 rs1562843339	249	T>I		No	ClinGen Ensembl
CA162886984 rs1032216524	250	K>R		No	ClinGen Ensembl
CA4335484 rs78445151 RCV000896339	251	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4335485 rs767431224	251	R>W		No	ClinGen ExAC TOPMed gnomAD
CA4335483 rs750467855	255	N>T		No	ClinGen ExAC gnomAD
TCGA novel	257	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1361879520 CA368116584 CA368116585	259	L>F		No	ClinGen gnomAD
rs530927148 CA4335481	260	R>P		No	ClinGen ExAC TOPMed gnomAD
rs530927148 CA162886982	260	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4335482 rs765277402 COSM262076	260	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4335480 rs776749146	262	T>A		No	ClinGen ExAC gnomAD
rs1562843284 CA368116569	263	F>L		No	ClinGen Ensembl
rs764451049 CA4335479	263	F>S		No	ClinGen ExAC TOPMed
rs149530545 CA4335478	264	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4335476 rs540543596	268	E>A		No	ClinGen 1000Genomes ExAC gnomAD
rs746427860 CA4335475	268	E>D		No	ClinGen ExAC TOPMed gnomAD
CA368116519 rs1584460989	270	L>M		No	ClinGen Ensembl
TCGA novel	272	V>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368116507 rs1468159793	272	V>F		No	ClinGen TOPMed
CA4335474 rs202197997 COSM220606	274	I>V	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs150790142 CA4335473	275	C>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs150790142 CA4335472	275	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA4335471 rs371586519	277	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs755824455 CA4335470	278	G>E		No	ClinGen ExAC gnomAD
TCGA novel	280	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781002302 CA4335466	283	D>A		No	ClinGen ExAC gnomAD
CA4335465 rs754883588	283	D>E		No	ClinGen ExAC gnomAD
rs1393071223 CA368116442	283	D>N		No	ClinGen gnomAD
CA368116437 rs1367863351	284	L>V		No	ClinGen gnomAD
rs751470393 CA4335464	286	N>D		No	ClinGen ExAC gnomAD
CA368116421 rs1390289449	286	N>K		No	ClinGen TOPMed gnomAD
CA368116423 rs1451202322	286	N>S		No	ClinGen gnomAD
CA368116390 rs1444938375	291	R>G		No	ClinGen gnomAD
CA4335463 rs139218723	291	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs993412905 CA162886979	292	S>N		No	ClinGen TOPMed gnomAD
CA368116369 rs10266424	294	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_024237 CA4335460 rs10266424	294	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4335459 rs761020937	294	A>V		No	ClinGen ExAC gnomAD
TCGA novel	296	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	298	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs143680014 CA368116297	304	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143680014 CA4335458	304	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779147809 CA4335457	305	C>G		No	ClinGen ExAC gnomAD
rs779147809 CA162886977	305	C>R		No	ClinGen ExAC gnomAD
rs1301022852 CA368116293	305	C>Y		No	ClinGen TOPMed gnomAD
rs1431559113 CA368116289	306	T>A		No	ClinGen gnomAD
CA368116285 rs1371029656	306	T>I		No	ClinGen gnomAD
rs760080436 CA4335456	307	E>A		No	ClinGen ExAC gnomAD
rs774729982 CA4335455	308	E>Q		No	ClinGen ExAC gnomAD
CA368116269 rs1479441269	309	E>Q		No	ClinGen TOPMed
CA368116245 rs1199158128	312	K>T		No	ClinGen gnomAD
rs939131597 CA162886975	313	F>V		No	ClinGen Ensembl
CA368116202 rs1184711074	318	P>S		No	ClinGen gnomAD
CA4335450 rs769402682	320	V>L		No	ClinGen ExAC gnomAD
rs769402682 CA4335451	320	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1347194573 CA368116182	321	I>T		No	ClinGen gnomAD
rs756581070 CA162886972	321	I>V		No	ClinGen gnomAD
CA368116161 rs1212407753	324	A>G		No	ClinGen gnomAD
CA4335448 rs780912236	325	E>K		No	ClinGen ExAC gnomAD
CA4335447 rs768470153	326	K>R		No	ClinGen ExAC gnomAD
rs746896569 CA4335446	327	K>T		No	ClinGen ExAC gnomAD
TCGA novel	328	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758417824 CA4335444	329	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA162886970 rs368932924	330	D>G		No	ClinGen ESP TOPMed gnomAD
rs139119978 CA4335443	332	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1465245178 CA368116097	333	D>E		No	ClinGen gnomAD
rs756356679 CA4335442	333	D>N		No	ClinGen ExAC gnomAD
rs756356679 CA4335441	333	D>Y		No	ClinGen ExAC gnomAD
rs376668678 CA4335440	334	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1184867683 CA368116094	334	C>Y		No	ClinGen gnomAD
TCGA novel	335	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1344001032 CA368116048	340	I>F		No	ClinGen TOPMed
rs1562842828 CA576269656	340	I>L		No	ClinGen Ensembl
rs1208949022 CA368116047	340	I>T		No	ClinGen gnomAD
CA368116040 rs1344783350	341	S>N		No	ClinGen TOPMed gnomAD
rs759835487 CA4335438	344	Q>H		No	ClinGen ExAC gnomAD
rs752021988 CA4335437	345	I>V		No	ClinGen ExAC gnomAD
CA4335436 rs766793957	346	I>V		No	ClinGen ExAC gnomAD
COSM1092851 rs772570967 CA4335434	347	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1562842779 CA368115983	349	P>L		No	ClinGen Ensembl
rs769312575 CA4335433	350	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	352	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs138162673 CA4335431	353	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs768381911 CA4335430	354	S>L		No	ClinGen ExAC gnomAD
rs890677628 CA162886967	356	I>L		No	ClinGen TOPMed
CA4335429 rs201314167	356	I>R		No	ClinGen ExAC TOPMed gnomAD
CA4335428 rs201314167	356	I>T		No	ClinGen ExAC TOPMed gnomAD
CA368115930 rs1267981554	358	T>I		No	ClinGen TOPMed
rs538481449 CA162886966	361	S>R		No	ClinGen 1000Genomes
CA4335425 rs745841858	362	R>*		No	ClinGen ExAC gnomAD
COSM282905 rs777960484 CA4335424	362	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs566302697 CA4335423	363	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1201266980 CA368115903	363	I>V		No	ClinGen TOPMed
TCGA novel	365	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752914113 CA4335421	366	L>F		No	ClinGen ExAC TOPMed gnomAD
CA162886965 rs150470458	366	L>W		No	ClinGen ESP TOPMed
CA4335420 rs781554825	367	V>A		No	ClinGen ExAC TOPMed gnomAD
CA368115875 rs1562842690	367	V>L		No	ClinGen Ensembl
CA368115860 rs1474069097	369	A>G		No	ClinGen gnomAD
CA368115847 rs1449598977	371	C>F		No	ClinGen gnomAD
rs1449598977 CA368115849	371	C>Y		No	ClinGen gnomAD
CA4335418 CA368115831 rs751842790	373	L>F		No	ClinGen ExAC TOPMed gnomAD
rs766812988 CA4335417	375	T>A		No	ClinGen ExAC TOPMed
CA368115801 rs1464559575	378	I>V		No	ClinGen gnomAD
rs750956047 CA368115795	379	T>A		No	ClinGen ExAC TOPMed gnomAD
CA4335414 rs764660421	379	T>I		No	ClinGen ExAC gnomAD
rs750956047 CA162886963	379	T>P		No	ClinGen ExAC TOPMed gnomAD
rs750956047 CA4335415	379	T>S		No	ClinGen ExAC TOPMed gnomAD
CA4335413 rs761326141	380	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1017732219 CA162886961	382	S>F		No	ClinGen Ensembl
rs1321927980 CA368115759	385	K>E		No	ClinGen gnomAD
CA368115743 rs1562842535	387	R>*		No	ClinGen Ensembl
TCGA novel	387	R>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1435372085 CA368115740	387	R>I		No	ClinGen gnomAD
TCGA novel	387	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767228170 CA4335410	388	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs763648956 CA4335411	388	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA368115736 rs1344183550	388	Y>H		No	ClinGen gnomAD
rs771932670 CA4335408	389	E>K		No	ClinGen ExAC TOPMed gnomAD
rs745726879 CA162886960	390	A>D		No	ClinGen ExAC TOPMed gnomAD
rs745726879 CA4335407	390	A>G		No	ClinGen ExAC TOPMed gnomAD
CA368115721 rs745726879	390	A>V		No	ClinGen ExAC TOPMed gnomAD
rs774446813 CA4335406	392	L>W		No	ClinGen ExAC gnomAD
rs199652694 CA4335405	393	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368115698 rs1475241571	394	K>E		No	ClinGen gnomAD
rs1475241571 CA368115699	394	K>Q		No	ClinGen gnomAD
rs748236867 CA4335404	395	L>S		No	ClinGen ExAC gnomAD
CA162886959 rs952067390	396	S>I		No	ClinGen Ensembl
rs781464786 CA4335403	397	R>G		No	ClinGen ExAC gnomAD
CA368115660 rs1416494345	399	A>V		No	ClinGen Ensembl
rs751137351 CA162886957	400	A>Q		No	ClinGen TOPMed gnomAD

No associated diseases with Q99551

No regional properties for Q99551

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q99551

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 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.
mitochondrial nucleoid	The region of a mitochondrion to which the DNA is confined.
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.

3 GO annotations of molecular function

Name	Definition
double-stranded DNA binding	Binding to double-stranded DNA.
nucleic acid binding	Binding to a nucleic acid.
RNA binding	Binding to an RNA molecule or a portion thereof.

4 GO annotations of biological process

Name	Definition
DNA geometric change	The process in which a transformation is induced in the geometry of a DNA double helix, resulting in a change in twist, writhe, or both, but with no change in linking number. Includes the unwinding of double-stranded DNA by helicases.
DNA-templated transcription termination	The completion of transcription: the RNA polymerase pauses, the RNA-DNA hybrid dissociates, followed by the release of the RNA polymerase from its DNA template.
regulation of DNA-templated transcription	Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.
termination of mitochondrial transcription	A transcription termination process that completes the production of a primary mitochondrial transcript.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5ZJC8	MTERF3	Transcription termination factor 3, mitochondrial	Gallus gallus (Chicken)	PR
Q96E29	MTERF3	Transcription termination factor 3, mitochondrial	Homo sapiens (Human)	PR
Q8R3J4	Mterf3	Transcription termination factor 3, mitochondrial	Mus musculus (Mouse)	PR
Q8CHZ9	Mterf1a	Transcription termination factor 1a, mitochondrial	Mus musculus (Mouse)	PR
B9EJ57	Mterf1b	Transcription termination factor 1b, mitochondrial	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MQSLSLGQTS	ISKGLNYLTI	MAPGNLWHMR	NNFLFGSRCW	MTRFSAENIF	KSVSFRLFGV
70	80	90	100	110	120
KCHNTDSEPL	KNEDLLKNLL	TMGVDIDMAR	KRQPGVFHRM	ITNEQDLKMF	LLSKGASKEV
130	140	150	160	170	180
IASIISRYPR	AITRTPENLS	KRWDLWRKIV	TSDLEIVNIL	ERSPESFFRS	NNNLNLENNI
190	200	210	220	230	240
KFLYSVGLTR	KCLCRLLTNA	PRTFSNSLDL	NKQMVEFLQA	AGLSLGHNDP	ADFVRKIIFK
250	260	270	280	290	300
NPFILIQSTK	RVKANIEFLR	STFNLNSEEL	LVLICGPGAE	ILDLSNDYAR	RSYANIKEKL
310	320	330	340	350	360
FSLGCTEEEV	QKFVLSYPDV	IFLAEKKFND	KIDCLMEENI	SISQIIENPR	VLDSSISTLK
370	380	390
SRIKELVNAG	CNLSTLNITL	LSWSKKRYEA	KLKKLSRFA