AiPD: Autoinhibited Protein Database

Q5TC63

Gene name	GRTP1 (TBC1D6)
Protein name	Growth hormone-regulated TBC protein 1
Names	TBC1 domain family member 6
Species	Homo sapiens (Human)
KEGG Pathway	hsa:79774
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-135 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-135 (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 Q5TC63

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q5TC63-F1	Predicted				AlphaFoldDB

366 variants for Q5TC63

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs766594936 CA7063446	2	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs991084942 CA256496284	2	Q>H		No	ClinGen TOPMed gnomAD
CA7063445 rs762963544	3	P>S		No	ClinGen ExAC TOPMed gnomAD
CA7063443 rs191965264	4	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs191965264 CA388808446	4	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7063444 rs773329497	4	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7063441 rs188880427	5	E>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1281053349 CA388808405	7	S>L		No	ClinGen TOPMed
rs972609360 CA256496278	8	R>W		No	ClinGen TOPMed gnomAD
rs779792176 CA7063438	9	V>F		No	ClinGen ExAC gnomAD
rs1223335173 CA388808373	10	P>L		No	ClinGen TOPMed
CA7063437 rs758107693	10	P>S		No	ClinGen ExAC gnomAD
CA388808286 rs1313769127	13	D>E		No	ClinGen Ensembl
CA388808275 rs1240351924	14	P>R		No	ClinGen Ensembl
CA7063414 rs373897364	15	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7063413 rs370454368	16	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA388808252 rs370454368	16	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel CA388808255 rs1388521526	16	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
rs370454368 CA388808250	16	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs755465208 CA7063411	18	E>G		No	ClinGen ExAC TOPMed gnomAD
CA7063410 rs752128482	20	P>R		No	ClinGen ExAC gnomAD
CA7063409 rs780366401	21	E>A		No	ClinGen ExAC TOPMed gnomAD
rs780366401 CA388808199	21	E>G		No	ClinGen ExAC TOPMed gnomAD
CA7063407 rs750617701	24	D>E		No	ClinGen ExAC TOPMed gnomAD
CA388808172 rs559792378	24	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7063408 rs559792378	24	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7063406 rs200144497	25	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA388808158 rs1247305040	25	D>H		No	ClinGen gnomAD
CA256496076 rs975635073	26	A>D		No	ClinGen Ensembl
CA7063405 rs761892774	27	A>V		No	ClinGen ExAC gnomAD
CA7063404 rs372487085	29	E>G		No	ClinGen ESP ExAC gnomAD
rs1360422425 CA388808111	29	E>K		No	ClinGen TOPMed gnomAD
CA7063402 rs541391531	30	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	32	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388808041 rs771947417	33	S>F		No	ClinGen ExAC TOPMed gnomAD
CA7063400 rs771947417	33	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7063399 rs759283769	34	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1302923408 CA388808024	35	Y>D		No	ClinGen TOPMed gnomAD
CA388808015 rs1358889176	36	L>P		No	ClinGen TOPMed
rs773989752 CA7063397	38	T>A		No	ClinGen ExAC gnomAD
rs1275425948 CA388807994	40	T>S		No	ClinGen TOPMed
rs573222494 CA7063395	41	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770505144 CA7063396	41	R>S		No	ClinGen ExAC gnomAD
rs1418192057 CA388807986	42	R>G		No	ClinGen gnomAD
CA7063394 rs769334846	45	K>R		No	ClinGen ExAC TOPMed gnomAD
CA7063393 rs769334846	45	K>T		No	ClinGen ExAC TOPMed gnomAD
rs554894800 CA256496031	46	W>C		No	ClinGen 1000Genomes
CA388807947 rs1476353629	47	S>F		No	ClinGen gnomAD
CA7063392 rs747465303	48	R>G		No	ClinGen ExAC gnomAD
CA388807945 rs1197877637	48	R>Q		No	ClinGen gnomAD
CA388807946 rs747465303	48	R>W		No	ClinGen ExAC gnomAD
rs780568965 CA256496016	49	L>V		No	ClinGen ExAC gnomAD
rs758721125 CA7063390	50	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1341479617 CA388807928	51	Q>H		No	ClinGen gnomAD
CA7063387 rs757413104	54	G>A		No	ClinGen ExAC
CA388807913 rs1216475293	54	G>R		No	ClinGen gnomAD
rs764243821 CA7063385	55	V>A		No	ClinGen ExAC gnomAD
CA7063386 rs754127090	55	V>F		No	ClinGen ExAC gnomAD
CA7063384 rs760865051	56	P>S		No	ClinGen ExAC gnomAD
CA388807898 rs1384524299	57	R>K		No	ClinGen TOPMed
rs1449618431 CA388807892	58	S>G		No	ClinGen TOPMed
CA7063383 rs752646202	58	S>N		No	ClinGen ExAC gnomAD
rs767570539 CA7063382	58	S>R		No	ClinGen ExAC
rs542491091 CA7063381	59	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388807878 rs1566447136	60	T>I		No	ClinGen Ensembl
CA388807877 rs533089927 CA7063379	61	V>L		No	ClinGen ExAC gnomAD
rs533089927 CA256495986	61	V>M		No	ClinGen ExAC gnomAD
CA388807137 rs559088690	63	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388807136 rs540790968	63	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7063341 rs540790968	63	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7063342 rs559088690	63	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7063340 rs778085990	64	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs756395315 CA7063339	65	V>F		No	ClinGen ExAC gnomAD
rs376648575 CA7063338	66	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
COSM945593 rs376648575 COSM3399252 CA7063337	66	R>W	Variant assessed as Somatic; 0.0 impact. central_nervous_system endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA7063336 rs755135269	68	G>R		No	ClinGen ExAC gnomAD
CA388807110 rs755135269	68	G>W		No	ClinGen ExAC gnomAD
rs1311182694 CA388807102	69	V>A		No	ClinGen TOPMed gnomAD
CA256523746 rs998145349	70	P>L		No	ClinGen TOPMed gnomAD
rs371622943 CA7063335	73	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7063333 rs201894052	74	R>C		No	ClinGen 1000Genomes ExAC gnomAD
CA7063332 rs201894052	74	R>G		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	74	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	74	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7063334 rs201894052	74	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1230283761 CA388807069	75	A>D		No	ClinGen TOPMed gnomAD
rs761421495 CA7063330	76	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs776310719 CA7063329	79	M>L		No	ClinGen ExAC gnomAD
rs942817158 CA256523726	79	M>T		No	ClinGen TOPMed gnomAD
rs763460051 CA7063328	81	L>M		No	ClinGen ExAC TOPMed gnomAD
CA388807028 rs1400066957	82	S>G		No	ClinGen TOPMed
rs904588130 CA388807025	82	S>I		No	ClinGen TOPMed gnomAD
rs904588130 CA256523719	82	S>N		No	ClinGen TOPMed gnomAD
CA7063327 rs760267772	83	G>A		No	ClinGen ExAC TOPMed gnomAD
rs760267772 CA388807018	83	G>E		No	ClinGen ExAC TOPMed gnomAD
CA388807019 rs760267772	83	G>V		No	ClinGen ExAC TOPMed gnomAD
CA388807015 rs1356812598	84	A>S		No	ClinGen gnomAD
CA388807008 rs1296396620	85	Q>P		No	ClinGen TOPMed
CA388807007 rs1296396620	85	Q>R		No	ClinGen TOPMed
rs1221641661 CA388806999	86	A>G		No	ClinGen TOPMed
rs1221641661 CA388806998	86	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA7063325 rs144216849	87	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1295246280 CA388806992	87	Q>H		No	ClinGen TOPMed gnomAD
CA388806996 rs144216849	87	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA388806986 rs1464610011	88	M>T		No	ClinGen gnomAD
rs199986863 CA7063323	93	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7063322 rs536820962	94	Y>C		No	ClinGen ExAC gnomAD
CA256523707 rs536820962	94	Y>S		No	ClinGen ExAC gnomAD
rs1186978435 CA388806917	97	Q>H		No	ClinGen TOPMed
CA388806915 rs1365165599	98	L>F		No	ClinGen gnomAD
CA7063320 rs376154757	100	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1263226420 CA388806899	100	Q>R		No	ClinGen TOPMed
CA388806891 rs1426575734	101	G>E		No	ClinGen TOPMed gnomAD
rs1426575734 CA388806892 COSM320729	101	G>V	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA256523690 rs754334716	102	E>D		No	ClinGen TOPMed gnomAD
rs768551233 CA7063318	102	E>G		No	ClinGen ExAC TOPMed gnomAD
CA388806886 rs768551233	102	E>V		No	ClinGen ExAC TOPMed gnomAD
CA7063317 rs747125905	104	N>D		No	ClinGen ExAC gnomAD
rs780054594 CA7063316	104	N>I		No	ClinGen ExAC gnomAD
rs758326127 CA7063315	105	P>A		No	ClinGen ExAC gnomAD
rs758326127 CA388806870	105	P>S		No	ClinGen ExAC gnomAD
CA388806863 rs1290527475	106	R>M		No	ClinGen gnomAD
rs750397076 CA7063314	106	R>S		No	ClinGen ExAC TOPMed gnomAD
rs564746606 CA256523683	106	R>W		No	ClinGen 1000Genomes
CA7063313 rs778654701	107	L>M		No	ClinGen ExAC gnomAD
CA388806858 rs1249116763	107	L>R		No	ClinGen gnomAD
rs1289917362 CA388806856	108	E>Q		No	ClinGen TOPMed
rs1388748641 CA388806849	109	D>N		No	ClinGen TOPMed gnomAD
CA388806841 rs1226141528	110	A>T		No	ClinGen gnomAD
rs757062708 CA7063312	111	I>L		No	ClinGen ExAC gnomAD
CA388806793 rs1471843639	115	L>P		No	ClinGen gnomAD
CA7063286 rs367651344	117	R>Q		No	ClinGen ExAC gnomAD
CA7063287 rs772266805	117	R>W		No	ClinGen ExAC TOPMed gnomAD
CA7063285 rs777047163	120	P>L		No	ClinGen ExAC TOPMed gnomAD
rs139380013 CA7063283	121	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs139380013 CA388806760	121	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1205292842 CA388806742	123	V>A		No	ClinGen gnomAD
rs1263728866 CA388806746	123	V>M		No	ClinGen TOPMed gnomAD
CA388806734 rs1348311744	124	K>N		No	ClinGen gnomAD
CA7063280 rs143332965	126	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA7063279 rs143332965	126	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs146277531 CA7063281	126	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs186873307 CA7063278 COSM1253846	128	T>A	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA388806706 rs1368963509	129	T>M		No	ClinGen TOPMed gnomAD
rs139569858 CA7063276	129	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA388806704 rs1244847281	130	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1157562302 CA388806694	131	P>H		No	ClinGen gnomAD
rs1157562302 CA388806692	131	P>L		No	ClinGen gnomAD
CA7063274 rs747789425	131	P>T		No	ClinGen ExAC gnomAD
CA7063273 rs781023232	134	Q>*		No	ClinGen ExAC gnomAD
rs754471829 COSM3955417 COSM3955416 CA7063272	134	Q>R	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA7063271 rs751100934	135	R>W		No	ClinGen ExAC gnomAD
rs1274886850 CA388806663	136	T>A		No	ClinGen TOPMed
CA388806655 rs1566436118	137	L>P		No	ClinGen Ensembl
rs1197922799 CA388806651	138	Y>H		No	ClinGen TOPMed
rs757749367 CA7063269	139	N>D		No	ClinGen ExAC gnomAD
CA7063268 rs754350455	140	V>A		No	ClinGen ExAC gnomAD
rs760976417 CA7063266	142	L>P		No	ClinGen ExAC TOPMed gnomAD
COSM1209087 rs1283303671 CA388806623	143	A>S	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA388806622 rs1283303671	143	A>T		No	ClinGen gnomAD
CA388806612 rs370119172	144	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA7063264 rs767743751	144	Y>C		No	ClinGen ExAC gnomAD
rs1245301496 CA388806611	145	G>R		No	ClinGen gnomAD
rs1317707242 CA388806600	146	H>L		No	ClinGen gnomAD
CA388806595 rs1429241876	147	H>Y		No	ClinGen TOPMed gnomAD
rs1186114994 CA388806587	148	N>Y		No	ClinGen gnomAD
rs749227458 CA7063260	149	Q>K		No	ClinGen ExAC gnomAD
CA256522258 rs994193403	152	G>S		No	ClinGen Ensembl
CA388806539 rs1296175818	155	Q>*		No	ClinGen TOPMed
rs540455245 CA7063256	155	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779880104 CA7063236	156	G>E		No	ClinGen ExAC gnomAD
rs1437345761 CA388806512	157	M>I		No	ClinGen TOPMed gnomAD
rs745922199 CA256519154	157	M>V		No	ClinGen Ensembl
CA7063235 rs771539952	160	I>V		No	ClinGen ExAC TOPMed gnomAD
CA7063234 rs778539448	161	A>S		No	ClinGen ExAC gnomAD
CA7063233 rs778539448	161	A>T		No	ClinGen ExAC gnomAD
rs1566427439 CA388806468	164	L>V		No	ClinGen Ensembl
rs377390569 CA256519147	165	I>T		No	ClinGen ESP TOPMed gnomAD
rs1321773836 CA388806463	165	I>V		No	ClinGen TOPMed gnomAD
rs1224573449 CA388806456	166	L>F		No	ClinGen gnomAD
TCGA novel	166	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1345729313 CA388806443	168	T>A		No	ClinGen gnomAD
CA7063232 rs374081004	168	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA7063231 rs753246954	170	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1353439002 CA388806424	171	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs781518723 COSM281571 CA7063230	173	E>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs781518723 CA388806407	173	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1181174309 CA388806383	176	W>S		No	ClinGen TOPMed
CA7063226 rs537584938	177	L>M		No	ClinGen 1000Genomes ExAC gnomAD
CA256519130 rs1032579746	177	L>P		No	ClinGen TOPMed
rs1258218501 CA388806358	180	A>T		No	ClinGen TOPMed
CA7063224 rs370094620	181	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA388806346 rs1175720772	182	V>G		No	ClinGen TOPMed gnomAD
rs77084892 CA256519108	183	G>*		No	ClinGen TOPMed gnomAD
CA256519117 rs77084892	183	G>R		No	ClinGen TOPMed gnomAD
rs1469636198 CA388806328	185	I>T		No	ClinGen gnomAD
CA388806325 rs976792211	186	L>I		No	ClinGen TOPMed gnomAD
rs1172092105 CA388806323	186	L>P		No	ClinGen TOPMed
rs976792211 CA256519106	186	L>V		No	ClinGen TOPMed gnomAD
rs775140903 CA7063199	188	D>G		No	ClinGen ExAC gnomAD
CA388806315 rs765396439	188	D>H		No	ClinGen ExAC TOPMed gnomAD
CA7063223 rs765396439	188	D>N		No	ClinGen ExAC TOPMed gnomAD
CA256509922 rs896910644	189	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA388805309 CA388805310 rs1186259985	190	Y>*		No	ClinGen TOPMed gnomAD
CA388805305 rs1486415131	191	S>N		No	ClinGen gnomAD
rs547229287 CA7063197	192	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA388805284 rs1290388988	194	M>I		No	ClinGen gnomAD
rs141676509 CA7063194	194	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1566411024 CA388805278	195	L>P		No	ClinGen Ensembl
CA7063192 rs777066197	196	G>A		No	ClinGen ExAC TOPMed gnomAD
CA7063193 rs748801911	196	G>C		No	ClinGen ExAC TOPMed gnomAD
rs774404063 TCGA novel CA256509885	198	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs746036880 CA7063187	198	K>R		No	ClinGen ExAC gnomAD
CA256509884 rs972348487	199	T>I		No	ClinGen Ensembl
CA7063185 rs543173577	200	D>E		No	ClinGen 1000Genomes ExAC gnomAD
rs377760302 CA7063186	200	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA388805248 rs1303813302	201	Q>*		No	ClinGen gnomAD
CA388805240 rs1172794761	202	E>*		No	ClinGen TOPMed gnomAD
CA7063184 rs753951859	202	E>V		No	ClinGen ExAC gnomAD
rs752731254 CA7063181	203	V>F		No	ClinGen ExAC gnomAD
rs752731254 CA7063182	203	V>I		No	ClinGen ExAC gnomAD
rs1426236126 CA388805222	205	G>E		No	ClinGen gnomAD
CA7063178 rs771185339 CA7063179	205	G>R		No	ClinGen TOPMed
CA256509831 rs932262464	208	V>E		No	ClinGen TOPMed
rs1267800726 CA388805207	208	V>M		No	ClinGen gnomAD
CA7063175 rs148016199	209	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7063176 rs563771356	209	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7063174 rs147347272 COSM945591	210	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs142231417 CA7063172	212	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7063171 rs540512358	213	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7063170 rs540512358	213	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7063166 rs779474713	215	V>A		No	ClinGen ExAC
rs142711477 CA7063167	215	V>M		No	ClinGen ESP ExAC
CA388805166 rs1423355195	216	G>E		No	ClinGen TOPMed
CA256509760 rs74639337	217	A>G		No	ClinGen Ensembl
rs1394433191 CA388805163	217	A>T		No	ClinGen gnomAD
rs1371596745 CA388805147	219	M>I		No	ClinGen TOPMed
CA7063165 rs138521391	219	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1393312867 CA388805142	220	E>G		No	ClinGen TOPMed
CA7063164 rs147117267	221	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7063162 rs373647513	221	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA7063163 rs373647513	221	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs370852162 CA7063160	223	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA388805122 rs1434340482	224	V>M		No	ClinGen gnomAD
rs141702619 CA7063159	227	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388805095 rs1275036005	228	L>P		No	ClinGen TOPMed
rs1433609818 CA388805091	229	L>Q		No	ClinGen gnomAD
CA7063153 rs200063032	232	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7063152 rs138890864	232	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA7063151 rs376495556	233	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA7063149 rs1555313280	234	F>L		No	ClinGen Ensembl
CA7063148 rs200753978	236	C>S		No	ClinGen 1000Genomes ExAC gnomAD
CA388805039 rs1463855080	237	L>R		No	ClinGen TOPMed
rs1449816581 CA388805031	238	F>L		No	ClinGen gnomAD
rs1407320465 CA388805025	239	V>A		No	ClinGen TOPMed gnomAD
rs931179643 CA256509687	239	V>M		No	ClinGen TOPMed gnomAD
CA7063146 rs772614903	240	D>N		No	ClinGen ExAC gnomAD
CA388805001 rs1467257609	241	I>N		No	ClinGen gnomAD
rs778175876 CA7063141	244	V>A		No	ClinGen ExAC gnomAD
COSM1209088 rs377607939 CA7063142	244	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1298251301 CA388804950	245	E>V		No	ClinGen TOPMed
rs765562300 CA7063105	247	V>A		No	ClinGen ExAC gnomAD
rs201928660 CA7063104	248	L>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747104817 CA7063102	249	R>P		No	ClinGen ExAC TOPMed gnomAD
CA7063101 rs747104817	249	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs150256141 CA7063103	249	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA388804832 rs1391101254	250	I>F		No	ClinGen TOPMed
CA388804808 rs1406535609	251	W>*		No	ClinGen TOPMed
CA256509457 rs1012937098	251	W>L		No	ClinGen Ensembl
rs1301122229 CA388804803	252	D>N		No	ClinGen TOPMed
rs775604592 CA7063099	253	C>R		No	ClinGen ExAC gnomAD
rs919750906 CA256509429	254	L>F		No	ClinGen gnomAD
rs931258578 CA256509434	254	L>S		No	ClinGen Ensembl
rs745842780 CA7063096	257	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7063095 rs770354805	257	E>V		No	ClinGen ExAC TOPMed gnomAD
rs1325374099 CA388804698	258	G>A		No	ClinGen gnomAD
CA7063094 rs778743717	258	G>C		No	ClinGen ExAC gnomAD
CA7063090 rs79374282	259	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388804675 rs755631578	260	K>N		No	ClinGen ExAC TOPMed gnomAD
rs777299320 CA7063088	260	K>R		No	ClinGen ExAC gnomAD
CA256509363 rs528876840	261	I>V		No	ClinGen Ensembl
CA388804666 rs1267262954	262	I>L		No	ClinGen TOPMed
CA7063086 rs752245801	263	F>L		No	ClinGen ExAC TOPMed gnomAD
rs368589900 CA388804651 COSM1188753	264	R>L	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs368589900 CA7063084	264	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs767204566 CA7063085	264	R>W		No	ClinGen ExAC TOPMed gnomAD
CA7063082 rs201003049	265	V>G		No	ClinGen ExAC TOPMed gnomAD
rs200572325 CA7063083	265	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388804623 rs1260802659	269	L>F		No	ClinGen gnomAD
CA7063079 rs374513764	270	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs144183757 CA256509330	271	K>Q		No	ClinGen ESP
rs764286581 CA388804606	272	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs764286581 CA7063077	272	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA7063076 rs140520461	273	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388804594 rs1370453571	274	Q>E		No	ClinGen TOPMed
CA7063074 rs554413002	275	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	275	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371367321 CA7063075	275	E>K		No	ClinGen ESP ExAC gnomAD
rs745754750 CA7063072	278	L>F		No	ClinGen ExAC gnomAD
rs1046420802 CA388804544	281	T>I		No	ClinGen TOPMed gnomAD
rs1046420802 CA256509308	281	T>S		No	ClinGen TOPMed gnomAD
CA388804539 rs1595469195	282	S>N		No	ClinGen Ensembl
rs770695889 CA7063069	282	S>R		No	ClinGen ExAC gnomAD
CA7063067 rs201611988	283	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7063068 rs201611988	283	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1359198206 CA388804523	285	D>N		No	ClinGen TOPMed
CA388804507 rs1205407925	287	C>Y		No	ClinGen TOPMed
CA388804500 rs375273020	288	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1403588635 CA388804497	288	D>E		No	ClinGen TOPMed gnomAD
rs375273020 CA7063064	288	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7063065 rs575354987	288	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs375273020 CA388804499	288	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs754559569 CA7063063	289	K>E		No	ClinGen ExAC gnomAD
rs1312388382 CA388804493	289	K>R		No	ClinGen gnomAD
CA388804489 rs1595469154	290	F>L		No	ClinGen Ensembl
rs750874451 CA7063061	290	F>S		No	ClinGen ExAC gnomAD
CA388804477 rs1448896829	291	K>N		No	ClinGen gnomAD
CA7063059 rs200423762	291	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA388804471 rs1302020881	292	Q>R		No	ClinGen gnomAD
rs1172351301 CA388804461	293	I>M		No	ClinGen TOPMed
rs754148276 CA7063056	295	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1049563450 CA256509259	296	G>R		No	ClinGen gnomAD
rs995378229 CA256509255	297	S>C		No	ClinGen Ensembl
rs556818909 CA7063055	297	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760861946 CA7063054	298	F>L		No	ClinGen ExAC gnomAD
CA7063050 rs759541391	299	V>A		No	ClinGen ExAC gnomAD
rs767543361 CA388804429	299	V>L		No	ClinGen ExAC TOPMed gnomAD
CA7063051 rs767543361	299	V>M		No	ClinGen ExAC TOPMed gnomAD
rs770764770 CA7063048	300	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1019938111 CA256509199 COSM945590	300	M>T	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA7063046 rs763018965	302	C>R		No	ClinGen ExAC gnomAD
rs146741219 CA7063044	304	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146741219 CA7063045	304	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388804387 rs1241746922	305	F>S		No	ClinGen gnomAD
rs780994511 CA7063042	306	M>I		No	ClinGen ExAC
rs768221334	307	Q>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768221334 CA7063041	307	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA7062965 rs777229201	309	I>K		No	ClinGen ExAC gnomAD
rs1488958128 CA388803257	313	P>R		No	ClinGen TOPMed
rs1282976342 CA388803263	313	P>S		No	ClinGen TOPMed gnomAD
CA388803239 rs1211683954	314	G>R		No	ClinGen TOPMed
rs1341461844 CA388803203	315	S>R		No	ClinGen gnomAD
CA7062964 rs768839385	316	L>F		No	ClinGen ExAC gnomAD
rs1416241393 CA388803157	318	M>T		No	ClinGen gnomAD
CA7062961 rs777315633	321	V>I		No	ClinGen ExAC TOPMed gnomAD
rs369435574 CA7062959	322	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7062958 rs375373610	322	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7062956 rs777777827	323	K>R		No	ClinGen ExAC gnomAD
CA7062955 rs200353233 COSM945589	325	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA7062954 rs752533096	325	R>H		No	ClinGen ExAC TOPMed gnomAD
CA7062951 rs751238619	326	E>G		No	ClinGen ExAC gnomAD
CA7062952 rs759167461	326	E>K		No	ClinGen ExAC gnomAD
rs1386640930 CA388803051	327	S>R		No	ClinGen TOPMed
CA388803040 rs1357760498	329	R>G		No	ClinGen gnomAD
rs913054933 CA256501746	329	R>T		No	ClinGen TOPMed
rs765839234 CA7062950	330	A>T		No	ClinGen ExAC gnomAD
CA388803029 rs1217224974	330	A>V		No	ClinGen TOPMed gnomAD
CA7062948 rs776947918	331	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs201011333 CA7062949	331	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1327686955 CA388802990	333	L>P		No	ClinGen gnomAD
CA7062943 rs372261501	335	Q>*		No	ClinGen ESP ExAC gnomAD
CA7062944 rs372261501	335	Q>K		No	ClinGen ESP ExAC gnomAD
CA388802942 rs746046916	336	G>A		No	ClinGen ExAC TOPMed gnomAD
CA7062941 rs746046916	336	G>E		No	ClinGen ExAC TOPMed gnomAD
CA388802928 rs779281647	337	G>G		No	ClinGen ExAC gnomAD
CA7062940 rs779281647	337	G>R		No	ClinGen ExAC gnomAD

No associated diseases with Q5TC63

1 regional properties for Q5TC63

Type	Name	Position	InterPro Accession
domain	Rab-GAP-TBC domain	65 - 281	IPR000195

Functions

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

No GO annotations of cellular component

Name	Definition
No GO annotations for cellular component

1 GO annotations of molecular function

Name	Definition
GTPase activator activity	Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.

1 GO annotations of biological process

Name	Definition
activation of GTPase activity	Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP.

28 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A0A087X1G2	TBC1D3K	TBC1 domain family member 3K	Homo sapiens (Human)	PR
B9A6J9	TBC1D3L	TBC1 domain family member 3L	Homo sapiens (Human)	PR
Q8WUA7	TBC1D22A	TBC1 domain family member 22A	Homo sapiens (Human)	PR
Q8IZP1	TBC1D3	TBC1 domain family member 3	Homo sapiens (Human)	PR
Q6IPX1	TBC1D3C	TBC1 domain family member 3C	Homo sapiens (Human)	PR
A0A087WVF3	TBC1D3D	TBC1 domain family member 3D	Homo sapiens (Human)	PR
A6NER0	TBC1D3F	TBC1 domain family member 3F	Homo sapiens (Human)	PR
A0A087WXS9	TBC1D3I	TBC1 domain family member 3I	Homo sapiens (Human)	PR
Q6DHY5	TBC1D3G	TBC1 domain family member 3G	Homo sapiens (Human)	PR
A0A087X179	TBC1D3E	TBC1 domain family member 3E	Homo sapiens (Human)	PR
P0C7X1	TBC1D3H	TBC1 domain family member 3H	Homo sapiens (Human)	PR
A6NDS4	TBC1D3B	TBC1 domain family member 3B	Homo sapiens (Human)	PR
Q8IV04	TBC1D10C	Carabin	Homo sapiens (Human)	PR
O60343	TBC1D4	TBC1 domain family member 4	Homo sapiens (Human)	PR
Q86TI0	TBC1D1	TBC1 domain family member 1	Homo sapiens (Human)	PR
O60447	EVI5	Ecotropic viral integration site 5 protein homolog	Homo sapiens (Human)	PR
Q3MII6	TBC1D25	TBC1 domain family member 25	Homo sapiens (Human)	PR
Q2NKQ1	SGSM1	Small G protein signaling modulator 1	Homo sapiens (Human)	PR
Q9HA65	TBC1D17	TBC1 domain family member 17	Homo sapiens (Human)	PR
Q8TC07	TBC1D15	TBC1 domain family member 15	Homo sapiens (Human)	PR
O95759	TBC1D8	TBC1 domain family member 8	Homo sapiens (Human)	PR
Q0IIM8	TBC1D8B	TBC1 domain family member 8B	Homo sapiens (Human)	PR
Q66K14	TBC1D9B	TBC1 domain family member 9B	Homo sapiens (Human)	PR
Q6ZT07	TBC1D9	TBC1 domain family member 9	Homo sapiens (Human)	PR
Q8TEA7	TBCK	TBC domain-containing protein kinase-like protein	Homo sapiens (Human)	PR
Q9UPU7	TBC1D2B	TBC1 domain family member 2B	Homo sapiens (Human)	PR
Q9D3N8	Grtp1	Growth hormone-regulated TBC protein 1	Mus musculus (Mouse)	PR
Q4QQU7	Grtp1	Growth hormone-regulated TBC protein 1	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MQPAERSRVP	RIDPYGFERP	EDFDDAAYEK	FFSSYLVTLT	RRAIKWSRLL	QGGGVPRSRT
70	80	90	100	110	120
VKRYVRKGVP	LEHRARVWMV	LSGAQAQMDQ	NPGYYHQLLQ	GERNPRLEDA	IRTDLNRTFP
130	140	150	160	170	180
DNVKFRKTTD	PCLQRTLYNV	LLAYGHHNQG	VGYCQGMNFI	AGYLILITNN	EEESFWLLDA
190	200	210	220	230	240
LVGRILPDYY	SPAMLGLKTD	QEVLGELVRA	KLPAVGALME	RLGVLWTLLV	SRWFICLFVD
250	260	270	280	290	300
ILPVETVLRI	WDCLFNEGSK	IIFRVALTLI	KQHQELILEA	TSVPDICDKF	KQITKGSFVM
310	320	330
ECHTFMQKIF	SEPGSLSMAT	VAKLRESCRA	RLLAQG