AiPD: Autoinhibited Protein Database

Q8N3Z3

Gene name	GTPBP8
Protein name	GTP-binding protein 8
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:29083
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

7-102 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

7-102 (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

1 structures for Q8N3Z3

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8N3Z3-F1	Predicted				AlphaFoldDB

274 variants for Q8N3Z3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1375060171	1	M>?	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA2541518 rs756035580	2	A>V		No	ClinGen ExAC gnomAD
CA2541523 rs747168489	5	G>R		No	ClinGen ExAC TOPMed gnomAD
CA2541524 rs757577105	5	G>V		No	ClinGen ExAC TOPMed gnomAD
CA2541525 rs781571473	7	R>P		No	ClinGen ExAC TOPMed gnomAD
rs781571473 CA81554129	7	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs770376905 CA2541527	8	L>P		No	ClinGen ExAC TOPMed gnomAD
rs770376905 CA2541528	8	L>R		No	ClinGen ExAC TOPMed gnomAD
CA2541526 rs746394566	8	L>V		No	ClinGen ExAC gnomAD
CA2541530 rs545098321	9	G>*		No	ClinGen 1000Genomes ExAC gnomAD
CA2541531 rs371264962	9	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA353746028 rs545098321	9	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA353746036 rs1311023007	10	A>G		No	ClinGen TOPMed
rs777344238 CA81554197	11	G>R		No	ClinGen TOPMed gnomAD
rs767244694 CA2541533	12	R>G		No	ClinGen ExAC gnomAD
rs1460262833 CA353746045	12	R>K		No	ClinGen TOPMed
CA353746088 rs1401532953	18	A>T		No	ClinGen gnomAD
TCGA novel	18	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs565265086 CA2541537	19	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1002504184 CA81554269	20	L>R		No	ClinGen TOPMed gnomAD
CA353746102 rs1326569913	21	E>Q		No	ClinGen gnomAD
CA353746110 rs1438547979	22	R>*		No	ClinGen gnomAD
rs753770152 CA2541539	22	R>L		No	ClinGen ExAC gnomAD
rs753770152 CA2541540	22	R>Q		No	ClinGen ExAC gnomAD
CA2541541 rs764103922	23	L>R		No	ClinGen ExAC gnomAD
CA353746126 rs1194491563	25	R>C		No	ClinGen TOPMed
rs1281664008 CA353746127	25	R>H		No	ClinGen gnomAD
CA81554324 rs988757577	26	Y>C		No	ClinGen TOPMed gnomAD
CA81554342 CA2541543 rs757462629	28	S>R		No	ClinGen ExAC TOPMed gnomAD
CA2541544 rs201314486	29	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2541546 rs756423291	30	S>P		No	ClinGen ExAC gnomAD
rs780777805 CA2541547	31	Q>E		No	ClinGen ExAC gnomAD
rs749749447 CA2541548	31	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1396317365 CA353746172	32	A>D		No	ClinGen TOPMed gnomAD
CA2541550 rs773954148	33	F>S		No	ClinGen ExAC gnomAD
CA353746194 rs1335875869	36	V>M		No	ClinGen gnomAD
CA353746208 rs1277473699	38	R>P		No	ClinGen gnomAD
CA81554471 rs199953995	40	P>A		No	ClinGen ExAC gnomAD
CA2541554 rs199953995	40	P>S		No	ClinGen ExAC gnomAD
rs760582839 CA2541557	43	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs766095378 CA2541558	44	L>P		No	ClinGen ExAC gnomAD
CA353746273 rs1438527902	46	K>Q		No	ClinGen gnomAD
rs759421023 CA2541560	49	Y>C		No	ClinGen ExAC gnomAD
rs146268536 CA353746317	50	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs751701670 CA2541562	50	P>L		No	ClinGen ExAC gnomAD
CA2541561 rs146268536	50	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2541564 rs115818161	52	Q>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1559709398 CA353746351	53	E>D		No	ClinGen Ensembl
rs750610466 CA2541565	54	V>I		No	ClinGen ExAC TOPMed gnomAD
CA353746368 rs1472947063	55	E>G		No	ClinGen TOPMed
rs912575838 CA81554552	58	L>F		No	ClinGen Ensembl
rs754424386 CA2541569	60	P>R		No	ClinGen ExAC gnomAD
CA2541568 rs780514130	60	P>S		No	ClinGen ExAC gnomAD
CA353746472 rs1239265039	61	Y>C		No	ClinGen TOPMed gnomAD
rs1231835199 CA353746466	61	Y>H		No	ClinGen gnomAD
CA2541571 rs779538063	62	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1271006678 CA353746502	63	R>K		No	ClinGen gnomAD
CA81554599 rs1030537365	65	D>A		No	ClinGen TOPMed
rs771476334 CA81554604	65	D>E		No	ClinGen ExAC TOPMed gnomAD
CA2541572 rs374696448	65	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1164061627 CA353746551	66	L>F		No	ClinGen gnomAD
rs898660674 CA81554618	66	L>H		No	ClinGen TOPMed gnomAD
CA353746557 rs898660674	66	L>P		No	ClinGen TOPMed gnomAD
rs777485753 CA2541575	67	H>L		No	ClinGen ExAC TOPMed gnomAD
CA2541574 rs777485753	67	H>P		No	ClinGen ExAC TOPMed gnomAD
rs529848498 CA2541577	68	L>R		No	ClinGen 1000Genomes ExAC gnomAD
CA2541576 rs150357969	68	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1166042064 CA353746600	69	R>C		No	ClinGen TOPMed gnomAD
CA353746606 rs759296716	69	R>H		No	ClinGen ExAC TOPMed
CA2541578 rs759296716	69	R>P		No	ClinGen ExAC TOPMed
rs1166042064 CA353746602	69	R>S		No	ClinGen TOPMed gnomAD
CA2541581 rs775278690	72	D>A		No	ClinGen ExAC gnomAD
CA2541580 rs549530387	72	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs368320012 CA2541582	73	P>A		No	ClinGen ESP ExAC gnomAD
rs927217576 CA81554675	73	P>Q		No	ClinGen TOPMed
CA353746698 rs138027371	74	S>N		No	ClinGen ESP
CA81554677 rs138027371	74	S>T		No	ClinGen ESP
rs1413724877 CA353746724	75	P>R		No	ClinGen gnomAD
CA353746711 rs1392617155	75	P>S		No	ClinGen TOPMed
rs750674632 CA2541584	76	E>K		No	ClinGen ExAC TOPMed gnomAD
CA353746735 rs750674632	76	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA353746758 rs1576164931	77	D>V		No	ClinGen Ensembl
CA353746764 rs375098068	78	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2541587 rs754301790	78	I>T		No	ClinGen ExAC TOPMed gnomAD
CA2541586 rs375098068	78	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1341629567 CA353746794	79	A>T		No	ClinGen gnomAD
CA353746801 rs1452375418	79	A>V		No	ClinGen Ensembl
rs779538932 CA2541589	80	R>G		No	ClinGen ExAC gnomAD
rs753076298 CA2541590	80	R>K		No	ClinGen ExAC gnomAD
rs757939275 CA2541591	81	A>T		No	ClinGen ExAC
CA2541592 rs777097366	82	D>H		No	ClinGen ExAC
CA2541593 rs746696600	82	D>V		No	ClinGen ExAC gnomAD
rs1378710761 CA353746904	83	N>S		No	ClinGen TOPMed
CA353746943 rs1397900316	84	I>M		No	ClinGen TOPMed gnomAD
rs770612886 CA2541594	84	I>V		No	ClinGen ExAC gnomAD
rs745724180 CA2541596	86	T>A		No	ClinGen ExAC gnomAD
CA2541597 rs745724180	86	T>P		No	ClinGen ExAC gnomAD
CA2541599 rs762745147	88	T>P		No	ClinGen ExAC gnomAD
CA353747057 rs1447099606	89	E>D		No	ClinGen TOPMed
rs146036883 CA2541601	89	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2541602 rs760812269	90	R>G		No	ClinGen ExAC gnomAD
rs765462184 CA2541606	91	N>K		No	ClinGen ExAC gnomAD
rs754107564 CA2541605	91	N>S		No	ClinGen ExAC TOPMed gnomAD
rs754107564 CA2541604	91	N>T		No	ClinGen ExAC TOPMed gnomAD
rs372770061 CA2541608	92	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139947240 CA2541607	92	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1010153710 CA81554794	93	I>T		No	ClinGen Ensembl
rs1305764174 CA353747131	93	I>V		No	ClinGen gnomAD
CA2541613 rs780892081	95	Y>*		No	ClinGen ExAC gnomAD
rs756748221 CA2541612	95	Y>C		No	ClinGen ExAC gnomAD
rs114429530 CA2541615	96	V>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2541614 rs745459579	96	V>I		No	ClinGen ExAC gnomAD
CA353747227 rs1195381780	97	S>G		No	ClinGen gnomAD
rs779668576 CA2541618	98	S>A		No	ClinGen ExAC TOPMed gnomAD
rs768520603 COSM398568 CA2541619	98	S>F	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs779668576 CA2541617	98	S>P		No	ClinGen ExAC TOPMed gnomAD
CA2541620 rs774329703	99	A>P		No	ClinGen ExAC TOPMed gnomAD
CA2541622 rs774329703	99	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2541621 rs774329703	99	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2541625 rs146180102	100	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353747297 rs146180102	100	V>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2541624 rs146180102	100	V>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA81554875 rs565662521	100	V>L		No	ClinGen 1000Genomes
rs763355212 CA2541627	101	R>C		No	ClinGen ExAC TOPMed gnomAD
rs912543349 CA81554902	101	R>H		No	ClinGen TOPMed gnomAD
CA2541628 rs764568051	103	D>E		No	ClinGen ExAC gnomAD
TCGA novel	103	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2541629 rs368428403	106	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368428403 CA81554913	106	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2541631 rs766960782	107	D>G		No	ClinGen ExAC gnomAD
CA2541630 rs756766635	107	D>H		No	ClinGen ExAC gnomAD
rs750102621 CA81554939	108	L>F		No	ClinGen ExAC TOPMed gnomAD
rs750102621 CA2541632	108	L>I		No	ClinGen ExAC TOPMed gnomAD
CA2541633 rs755758008	109	P>L		No	ClinGen ExAC TOPMed gnomAD
rs749091904 CA353747545	110	R>L		No	ClinGen ExAC TOPMed gnomAD
rs749091904 CA2541635	110	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA353747536 rs1345489429 COSM1417829	110	R>W	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs754795203 CA353747551	111	P>A		No	ClinGen ExAC TOPMed gnomAD
rs754795203 CA2541636	111	P>S		No	ClinGen ExAC TOPMed gnomAD
CA353747579 rs1195886884	112	E>D		No	ClinGen gnomAD
CA353747574 rs1487907400	112	E>G		No	ClinGen gnomAD
CA2541683 rs779090069	113	V>E		No	ClinGen ExAC TOPMed gnomAD
CA353748892 rs1208699031	113	V>M		No	ClinGen gnomAD
rs748575277 CA2541684	116	I>L		No	ClinGen ExAC gnomAD
CA2541685 rs201652410	116	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1051014648 CA81556734	117	G>V		No	ClinGen TOPMed
CA353748986 rs1440658022	118	R>I		No	ClinGen gnomAD
rs773603135 CA2541687	120	N>D		No	ClinGen ExAC TOPMed gnomAD
rs377191407 CA2541688	120	N>S		No	ClinGen ExAC gnomAD
CA353749041 rs1559710076	121	V>D		No	ClinGen Ensembl
rs770378287 CA2541689	121	V>F		No	ClinGen ExAC TOPMed gnomAD
CA81556763 rs770378287	121	V>I		No	ClinGen ExAC TOPMed gnomAD
rs776244739 CA81556764	122	G>*		No	ClinGen ExAC TOPMed gnomAD
rs776244739 CA2541690	122	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1322438075 CA353749103	124	S>*		No	ClinGen TOPMed gnomAD
rs1281022313 CA353749094	124	S>T		No	ClinGen TOPMed gnomAD
CA81556771 rs780843011	127	I>M		No	ClinGen Ensembl
TCGA novel	127	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2541691 rs759095458	128	K>R		No	ClinGen ExAC gnomAD
CA2541693 rs775278797	130	L>S		No	ClinGen ExAC gnomAD
rs762847077 CA2541694	131	F>C		No	ClinGen ExAC gnomAD
rs763925318 CA2541695	134	A>V		No	ClinGen ExAC TOPMed gnomAD
rs868597413 CA81556782	135	P>L		No	ClinGen Ensembl
CA81556813 rs971735766	138	E>K		No	ClinGen TOPMed
CA2541696 rs751476782	141	V>A		No	ClinGen ExAC
CA2541697 rs757182425	143	K>R		No	ClinGen ExAC gnomAD
rs767330405 CA2541698	144	K>N		No	ClinGen ExAC TOPMed gnomAD
rs755042061 CA2541700	145	P>L		No	ClinGen ExAC gnomAD
rs755042061 CA353749749	145	P>Q		No	ClinGen ExAC gnomAD
rs1443988894	145	P>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
COSM3426896 CA2541699 rs754004325	145	P>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA353750038 rs1170450677	146	G>*		No	ClinGen TOPMed
CA2541720 rs767554513	147	H>R		No	ClinGen ExAC gnomAD
CA353750070 rs1427058399	147	H>Y		No	ClinGen TOPMed
rs1280533124 CA353750109	149	K>E		No	ClinGen gnomAD
CA2541721 rs148441248	149	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353750112 rs148441248	149	K>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2541722 rs755060436	151	M>T		No	ClinGen ExAC gnomAD
rs765250022 CA81558380	152	N>D		No	ClinGen ExAC gnomAD
CA2541723 rs765250022	152	N>H		No	ClinGen ExAC gnomAD
CA2541724 rs752946200	155	K>R		No	ClinGen ExAC TOPMed gnomAD
CA2541726 rs777834753	156	V>A		No	ClinGen ExAC TOPMed gnomAD
rs758658690 CA2541725	156	V>I		No	ClinGen ExAC gnomAD
CA2541727 rs747464725	157	G>E		No	ClinGen ExAC gnomAD
CA2541728 rs757558590	161	T>A		No	ClinGen ExAC TOPMed gnomAD
CA2541729 rs560338338	161	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA2541730 rs746321474	162	V>L		No	ClinGen ExAC gnomAD
rs1327542770 CA353750366	164	D>G		No	ClinGen gnomAD
rs1319969626 CA353750375	165	M>V		No	ClinGen TOPMed
rs1226455218 CA353750400	166	P>L		No	ClinGen TOPMed
CA353750394 rs1258594046	166	P>S		No	ClinGen TOPMed
TCGA novel	170	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA81558430 rs79229353	171	R>*		No	ClinGen gnomAD
rs1576166790 CA353750474	172	A>V		No	ClinGen Ensembl
rs775102814 CA2541732	173	P>S		No	ClinGen ExAC gnomAD
CA353750495 rs1305480357	174	E>V		No	ClinGen TOPMed
rs201459759 CA2541733	177	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	178	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1276826802 CA353750570	179	M>I		No	ClinGen gnomAD
rs1229159317 CA353750568	179	M>T		No	ClinGen TOPMed
rs768373063 CA2541735	183	Y>*		No	ClinGen ExAC gnomAD
CA353750626 rs1284616778	183	Y>C		No	ClinGen gnomAD
TCGA novel	185	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771754109 CA2541737	186	E>K		No	ClinGen ExAC gnomAD
rs773186241 COSM1036407 CA2541738	187	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA2541739 rs142551544	187	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs529308012 CA2541753	191	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1473774973 CA353750807	191	K>R		No	ClinGen gnomAD
CA353750834 rs1559711069	193	T>I		No	ClinGen Ensembl
CA353750845 rs1157666430	194	F>C		No	ClinGen gnomAD
CA353750853 rs1576167577	195	L>*		No	ClinGen Ensembl
rs747737043 CA2541755	198	D>N		No	ClinGen ExAC gnomAD
rs1295398482 CA353750893	199	S>N		No	ClinGen gnomAD
CA2541757 rs376586493	200	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2541758 rs760414529	201	V>A		No	ClinGen ExAC gnomAD
rs1407749796 CA353750916	203	I>V		No	ClinGen gnomAD
CA81559745 rs202185647	204	Q>K		No	ClinGen Ensembl
TCGA novel	206	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1202668830 CA353750951	208	N>H		No	ClinGen TOPMed
CA353750964 rs1246849398	209	I>T		No	ClinGen TOPMed gnomAD
CA353750966 rs1015274778	210	A>P		No	ClinGen TOPMed
CA81559761 rs1015274778	210	A>T		No	ClinGen TOPMed
TCGA novel	210	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1263221661 CA353750972	211	I>V		No	ClinGen gnomAD
TCGA novel	212	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770868760 CA2541759	212	E>G		No	ClinGen ExAC TOPMed gnomAD
rs370737917 CA81559773	213	M>I		No	ClinGen ESP TOPMed gnomAD
CA353751014 rs1253510822	216	E>V		No	ClinGen gnomAD
CA2541760 rs776484600	218	A>V		No	ClinGen ExAC gnomAD
rs764066697 CA2541762	222	V>L		No	ClinGen ExAC gnomAD
rs745769734 CA2541783	224	V>A		No	ClinGen ExAC gnomAD
CA81560972 rs1014435235	224	V>I		No	ClinGen gnomAD
rs556982832 CA2541784	228	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA353751111 rs1559711812	229	D>E		No	ClinGen Ensembl
rs774324239 CA2541785	230	K>R		No	ClinGen ExAC gnomAD
rs1269751623 CA353751125	231	S>F		No	ClinGen TOPMed
rs1227259323 CA353751136	233	K>R		No	ClinGen gnomAD
TCGA novel	236	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353751175 rs1324349732	239	Q>K		No	ClinGen TOPMed gnomAD
CA2541787 rs767861476	240	V>G		No	ClinGen ExAC TOPMed gnomAD
CA2541786 rs775325808	240	V>M		No	ClinGen ExAC TOPMed gnomAD
rs773446088 CA2541788	241	L>H		No	ClinGen ExAC TOPMed gnomAD
rs773446088 CA81561002	241	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1054263 VAR_048934 CA353751205 CA2541789	242	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD UniProt dbSNP
CA353751216 rs1576168652	243	I>N		No	ClinGen Ensembl
rs201243513 CA81561022	245	K>*		No	ClinGen TOPMed gnomAD
rs201243513 CA81561019	245	K>Q		No	ClinGen TOPMed gnomAD
rs1447729317 CA353751267	246	F>S		No	ClinGen gnomAD
rs561511105 CA2541792	249	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA353751335 rs1290933944	251	T>I		No	ClinGen TOPMed gnomAD
CA353751334 rs1290933944	251	T>S		No	ClinGen TOPMed gnomAD
rs1435061808 CA353751343	252	Q>P		No	ClinGen gnomAD
rs1173736030 CA353751361	253	G>A		No	ClinGen gnomAD
CA353751369 rs1192972011	254	C>Y		No	ClinGen TOPMed
CA353751386 rs1322420474	255	F>S		No	ClinGen gnomAD
rs752164333 CA2541795	259	F>L		No	ClinGen ExAC gnomAD
CA2541796 rs757837696	259	F>S		No	ClinGen ExAC gnomAD
CA2541797 rs777470032	260	P>A		No	ClinGen ExAC gnomAD
CA353751462 rs1299669872	261	V>E		No	ClinGen gnomAD
rs1224401336 CA353751456	261	V>I		No	ClinGen gnomAD
rs763571192 CA353752044	262	S>R		No	ClinGen ExAC gnomAD
rs1182354346 CA353752062	263	A>V		No	ClinGen gnomAD
CA2541824 rs751251006	265	T>I		No	ClinGen ExAC gnomAD
rs751251006 CA353752080	265	T>N		No	ClinGen ExAC gnomAD
TCGA novel	270	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353752172 rs1163391404	270	H>Y		No	ClinGen gnomAD
rs755868536 CA2541828	275	F>L		No	ClinGen ExAC TOPMed gnomAD
CA353752252 rs1223175761	276	I>T		No	ClinGen TOPMed
rs779918051 CA353752276	279	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs779918051 CA2541829	279	V>L		No	ClinGen ExAC gnomAD
CA2541832 rs749220458	282	S>R		No	ClinGen ExAC gnomAD
rs772321559 CA2541833	283	L>F		No	ClinGen ExAC gnomAD
CA2541834 rs778033056	283	L>P		No	ClinGen ExAC gnomAD
CA81567486 rs1047439303	285	D>S		No	ClinGen Ensembl

No associated diseases with Q8N3Z3

2 regional properties for Q8N3Z3

Type	Name	Position	InterPro Accession
domain	GTP binding domain	112 - 227	IPR006073
domain	EngB-type guanine nucleotide-binding (G) domain	109 - 282	IPR030393

Functions

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

1 GO annotations of cellular component

Name	Definition
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.

2 GO annotations of molecular function

Name	Definition
GTP binding	Binding to GTP, guanosine triphosphate.
metal ion binding	Binding to a metal ion.

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MAAPGLRLGA	GRLFEMPAVL	ERLSRYNSTS	QAFAEVLRLP	KQQLRKLLYP	LQEVERFLAP
70	80	90	100	110	120
YGRQDLHLRI	FDPSPEDIAR	ADNIFTATER	NRIDYVSSAV	RIDHAPDLPR	PEVCFIGRSN
130	140	150	160	170	180
VGKSSLIKAL	FSLAPEVEVR	VSKKPGHTKK	MNFFKVGKHF	TVVDMPGYGF	RAPEDFVDMV
190	200	210	220	230	240
ETYLKERRNL	KRTFLLVDSV	VGIQKTDNIA	IEMCEEFALP	YVIVLTKIDK	SSKGHLLKQV
250	260	270	280
LQIQKFVNMK	TQGCFPQLFP	VSAVTFSGIH	LLRCFIASVT	GSLD