AiPD: Autoinhibited Protein Database

Q3MII6

Gene name	TBC1D25 (OATL1)
Protein name	TBC1 domain family member 25
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:4943
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

471-603 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

471-603 (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 Q3MII6

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q3MII6-F1	Predicted				AlphaFoldDB

299 variants for Q3MII6

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1430699440 CA412854729	6	G>R		No	ClinGen TOPMed
CA412854735 rs1350524582	7	A>T		No	ClinGen TOPMed gnomAD
rs1602096930 CA412854750	8	S>L		No	ClinGen Ensembl
rs919421296 CA329079999	11	S>F		No	ClinGen gnomAD
rs1556979733 CA412854817	15	A>E		No	ClinGen gnomAD
CA10403077 rs202134988	16	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA412854824 rs202134988	16	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1417432921 CA412854852	19	G>S		No	ClinGen TOPMed gnomAD
CA10403078 rs781997881	20	V>A		No	ClinGen ExAC TOPMed gnomAD
CA329080015 rs1046447031	24	A>V		No	ClinGen TOPMed
CA329080023 rs928045572	26	A>V		No	ClinGen TOPMed
rs1488800845 CA412854920	28	A>D		No	ClinGen TOPMed
rs1211292674 CA412855078	38	V>L		No	ClinGen TOPMed gnomAD
rs1556980195 CA412856285	43	C>Y		No	ClinGen gnomAD
rs782589416 CA10403093	44	E>D		No	ClinGen ExAC TOPMed gnomAD
CA412856342 rs1191349665	46	F>V		No	ClinGen TOPMed gnomAD
CA329080336 rs911817158	47	L>*		No	ClinGen Ensembl
rs782367059 CA10403095	48	P>L		No	ClinGen ExAC gnomAD
rs1556980207 CA412856431	50	E>K		No	ClinGen gnomAD
rs1205682471 CA412856472 CA412856469	51	F>L		No	ClinGen TOPMed
CA412856480 rs1309738156	52	R>C		No	ClinGen TOPMed
rs149106267 CA10403097	52	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	55	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412856560 rs1556980217	56	V>I		No	ClinGen gnomAD
CA412856580 rs1556980222	57	D>Y		No	ClinGen gnomAD
rs781924198 CA10403099	58	P>L		No	ClinGen ExAC gnomAD
CA10403098 rs782327891	58	P>T		No	ClinGen ExAC gnomAD
TCGA novel	62	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782004347 CA10403102	64	D>N		No	ClinGen ExAC gnomAD
rs782742824 CA329080426	65	V>M		No	ClinGen TOPMed
CA412857069 rs1438898067	78	G>R		No	ClinGen TOPMed
TCGA novel	80	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10403117 rs144855115	89	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10403118 rs144855115	89	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782363255 CA10403116	89	R>W		No	ClinGen ExAC TOPMed gnomAD
CA10403119 rs371720169	90	D>G		No	ClinGen ExAC TOPMed gnomAD
rs782041132 CA10403120	91	R>G		No	ClinGen ExAC gnomAD
rs905111666 CA329081352	91	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs782041132 CA10403121	91	R>W		No	ClinGen ExAC gnomAD
CA10403123 rs781967778	93	G>R		No	ClinGen ExAC gnomAD
rs782080177 CA10403124	95	E>K		No	ClinGen ExAC gnomAD
rs1290787764 CA412857708	98	L>F		No	ClinGen TOPMed
rs781981451 CA10403126	102	S>P		No	ClinGen ExAC gnomAD
rs1556981215 CA412857855	104	W>R		No	ClinGen TOPMed
rs782144973 CA329081385	107	S>N		No	ClinGen gnomAD
CA412858109 rs1236912903	113	A>T		No	ClinGen TOPMed
CA10403128 rs782786638	116	P>A		No	ClinGen ExAC TOPMed gnomAD
rs781804959 COSM1195402 CA10403129	121	R>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs370010222 CA10403131	121	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs370010222 CA10403130	121	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA412858366 rs781829758	125	R>P		No	ClinGen ExAC gnomAD
COSM271553 rs781829758 CA10403132	125	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA412858382 rs1556981243	126	P>H		No	ClinGen gnomAD
rs1054019052 CA329081433	128	E>D		No	ClinGen Ensembl
rs1556981248 CA412858411	128	E>V		No	ClinGen gnomAD
CA412858416 rs1403616396	129	D>N		No	ClinGen TOPMed
rs148722919 CA10403147	131	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782784175 CA10403148	141	P>L		No	ClinGen ExAC TOPMed gnomAD
CA10403149 rs782750647	144	V>I		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	146	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782558791 CA10403150	148	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1556985098 CA412860082	149	V>M		No	ClinGen gnomAD
CA412860102 rs1408070184	150	L>S		No	ClinGen TOPMed
rs782266366 CA329086097	155	R>Q		No	ClinGen TOPMed gnomAD
rs1432540003 CA412860208	155	R>W		No	ClinGen TOPMed
rs781783909 CA10403152	159	T>M		No	ClinGen ExAC gnomAD
rs781841319 CA412860372	162	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781841319 CA10403154	162	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782259767 CA10403155	167	Q>E		No	ClinGen ExAC
CA412860542 rs1437406474	169	I>L		No	ClinGen TOPMed gnomAD
rs1437406474 CA412860543	169	I>V		No	ClinGen TOPMed gnomAD
CA412860752 rs1556985177	175	R>H		No	ClinGen gnomAD
rs1465483294 CA412860867	183	V>A		No	ClinGen TOPMed
rs1345761241 CA412860906	185	S>N		No	ClinGen TOPMed
rs370006983 CA329086175	200	S>N		No	ClinGen ESP TOPMed gnomAD
rs781842899 CA10403169	201	D>N		No	ClinGen ExAC gnomAD
CA412861239 rs1446094572	206	T>M		No	ClinGen TOPMed
rs782774411 CA412861320	210	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA412861306 rs1180544801	210	H>Y		No	ClinGen TOPMed
rs1261777146 CA412861326	211	E>K		No	ClinGen TOPMed
TCGA novel	212	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781890439 CA10403172	215	S>F		No	ClinGen ExAC gnomAD
CA10403173 rs782555717	216	R>*		No	ClinGen ExAC gnomAD
CA10403174 rs782571258	216	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1351517747 CA412861454	218	E>K		No	ClinGen TOPMed
rs977876335 CA329086202	219	E>K		No	ClinGen Ensembl
rs1556985297 CA412861555	223	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	228	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1055361986 CA329086291	237	V>L		No	ClinGen Ensembl
rs1556985438 CA412862089	239	R>Q		No	ClinGen gnomAD
CA412862086 rs1556985437	239	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA412862248 rs1196569017	248	G>E		No	ClinGen TOPMed
TCGA novel	252	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412862345 rs1556985455	255	M>I		No	ClinGen gnomAD
CA10403191 rs782068269	260	R>C		No	ClinGen ExAC gnomAD
rs782239452 CA10403192	260	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA412862438 rs1556985464	261	K>Q		No	ClinGen gnomAD
CA10403194 rs782509383	262	S>I		No	ClinGen ExAC gnomAD
CA10403195 rs368199225	263	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA10403196 rs141909515	263	R>H	Variant assessed as Somatic; 0.0001252 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA412862481 rs1556985480	264	E>K		No	ClinGen gnomAD
CA10403200 rs782495711	270	S>C		No	ClinGen ExAC
rs1556985503 CA412862575	271	E>A		No	ClinGen gnomAD
rs782642977 CA10403201	271	E>K		No	ClinGen ExAC gnomAD
rs1391610740 CA412862622	275	R>Q		No	ClinGen TOPMed
CA10403202 rs372060130	276	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs2293948 CA412862641	277	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs2293948 VAR_057345 CA10403204	277	N>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2293948 CA329086454	277	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782331645 CA412862661	279	E>G		No	ClinGen ExAC gnomAD
CA10403206 rs782331645	279	E>V		No	ClinGen ExAC gnomAD
TCGA novel	280	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412862694 rs1400070381	282	E>D		No	ClinGen TOPMed
COSM247732 CA10403207 rs781954331	285	R>C	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA412862731 rs1556985530	285	R>H		No	ClinGen gnomAD
rs1556985534 CA412862771	287	T>M		No	ClinGen gnomAD
CA10403210 rs371512897	289	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA10403211 rs782140048	297	R>Q		No	ClinGen ExAC gnomAD
CA412862933 rs1556985547	298	A>T		No	ClinGen gnomAD
CA329086492 rs782787446	299	H>Q		No	ClinGen Ensembl
rs781783580 CA10403213	303	A>V		No	ClinGen ExAC
CA10403217 rs782524725	307	D>G		No	ClinGen ExAC gnomAD
rs868916348 CA412863094	308	G>D		No	ClinGen Ensembl
CA10403219 rs782292207	311	L>V		No	ClinGen ExAC gnomAD
CA412863148 rs1197009419	312	R>Q		No	ClinGen TOPMed gnomAD
COSM164808 rs1556985569 CA412863144	312	R>W	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1556985577 CA412863167	313	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10403222 rs782207855 COSM1644038	316	D>N	stomach [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1060807 CA329086558	323	V>A		No	ClinGen Ensembl
rs781987440 CA10403224	323	V>I		No	ClinGen ExAC gnomAD
TCGA novel	324	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412863494 rs1602120625	334	M>I		No	ClinGen Ensembl
rs782405824 CA10403226	339	S>*		No	ClinGen ExAC
TCGA novel	343	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1556985614 CA412863649	345	M>I		No	ClinGen gnomAD
CA329086575 rs963374793	345	M>V		No	ClinGen Ensembl
rs1556985620 CA412863709	350	H>Y		No	ClinGen gnomAD
rs1239201354 CA412863726	351	A>V		No	ClinGen TOPMed
CA412863858 rs1378508014	360	K>R		No	ClinGen TOPMed
TCGA novel	362	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782124960 CA10403231	364	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1416649486 CA412863996	370	G>S		No	ClinGen TOPMed
CA10403233 rs144836018	371	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1420330216 CA412864014	371	R>H		No	ClinGen TOPMed gnomAD
CA412864048 rs1556985644	373	M>V		No	ClinGen Ensembl
rs377296532 CA329086602	375	T>A		No	ClinGen ESP TOPMed
rs1556985652 CA412864150	378	A>V		No	ClinGen gnomAD
rs1439382074 CA412864154	379	H>Y		No	ClinGen TOPMed
rs1556985662 CA412864200	382	L>M		No	ClinGen gnomAD
rs782184431 CA210191 RCV000201383	382	L>R		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
COSM1122091 rs1556985672 CA412864245	385	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs929920312 CA329086611	385	R>Q		No	ClinGen TOPMed gnomAD
CA10403235 rs781810407	387	A>T		No	ClinGen ExAC gnomAD
CA412864318 rs1556985682	389	P>R		No	ClinGen gnomAD
TCGA novel	393	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs868969458 CA412864435	396	Q>K		No	ClinGen Ensembl
rs369856597 CA329086612	397	E>D		No	ClinGen ESP
rs928473377 CA329086613	398	A>V		No	ClinGen Ensembl
TCGA novel	400	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	405	F>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412864763 rs1556985701	416	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10403241 rs782293331	419	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA10403244 rs782200777	422	D>N		No	ClinGen ExAC gnomAD
rs782386364 CA10403245	423	A>S		No	ClinGen ExAC
COSM1122094 rs147782707 CA10403246	425	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
COSM190176 rs1285119230 CA412864906	425	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs782156116 CA10403247	426	M>V		No	ClinGen ExAC TOPMed gnomAD
rs148847058 CA10403248	429	V>I		No	ClinGen ESP ExAC gnomAD
COSM3844833 rs1556985728 CA412865055	433	S>L	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs782071139 CA10403250	436	P>S		No	ClinGen ExAC gnomAD
TCGA novel	437	D>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782723313 CA10403251	441	H>L		No	ClinGen ExAC gnomAD
CA412865208 rs868978113	441	H>N		No	ClinGen Ensembl
rs782111373 CA10403253	448	P>S		No	ClinGen ExAC
rs782111373 CA329086749	448	P>T		No	ClinGen ExAC
rs1556985760	450	S>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	450	S>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA329086787 rs947046662	450	S>R		No	ClinGen Ensembl
CA10403254 rs782791687	450	S>T		No	ClinGen ExAC gnomAD
rs1556985770 CA412865367	451	Q>E		No	ClinGen gnomAD
rs1556985774 CA412865395	452	V>A		No	ClinGen gnomAD
rs1556985780 CA412865416	454	D>H		No	ClinGen gnomAD
rs235836 CA412865432	455	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs235836 CA10403256	455	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA412865452 rs1157002844	456	G>D		No	ClinGen TOPMed
rs1556985795 CA412865510	460	H>R		No	ClinGen gnomAD
CA412865522 rs1419297706	461	R>K		No	ClinGen TOPMed
rs782565325 CA10403257	461	R>S		No	ClinGen ExAC gnomAD
rs999543096 CA329086817	462	G>E		No	ClinGen TOPMed
CA10403259 rs782466078	464	P>T		No	ClinGen ExAC
rs782265046 CA10403261	465	V>M		No	ClinGen ExAC gnomAD
CA10403262 rs140812102 COSM1228585	466	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA329086862 rs1007608725	466	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs782188118 CA10403264	469	H>Q		No	ClinGen ExAC gnomAD
CA412865682 rs1556985827	474	A>T		No	ClinGen gnomAD
CA10403265 rs782005274	475	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1556985835 CA412865723	478	G>D		No	ClinGen gnomAD
CA412865752 rs868943680	482	E>K		No	ClinGen Ensembl
TCGA novel	484	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412865794 rs1489261777	486	D>N		No	ClinGen TOPMed gnomAD
rs781953492 CA10403266	488	L>P		No	ClinGen ExAC gnomAD
TCGA novel	489	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1556985846 CA412865827	489	A>T		No	ClinGen gnomAD
CA412865852 COSM1228587 rs1556985848	491	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1556985859 CA412865872	493	Q>R		No	ClinGen gnomAD
rs1556985863 CA412865899	496	G>S		No	ClinGen gnomAD
CA329086944 rs200545521	499	G>R		No	ClinGen Ensembl
rs1260397280 CA412865936	500	R>C		No	ClinGen TOPMed gnomAD
CA10403269 rs782380286	500	R>H		No	ClinGen ExAC TOPMed gnomAD
CA10403270 rs144788066	505	A>T		No	ClinGen ESP ExAC gnomAD
CA412866000 rs1556985886	508	D>G		No	ClinGen gnomAD
TCGA novel	509	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA329086953 rs1017709347	509	G>S		No	ClinGen TOPMed
rs782141337 CA10403271	510	L>P		No	ClinGen ExAC gnomAD
TCGA novel	516	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782800906 CA10403272	517	M>T		No	ClinGen ExAC TOPMed gnomAD
CA412866106 rs1556985900	519	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10403273 rs781786571	520	R>K		No	ClinGen ExAC TOPMed gnomAD
CA412866142 rs1556985911	523	P>T		No	ClinGen gnomAD
CA10403275 rs782721863	526	Q>*		No	ClinGen ExAC gnomAD
rs1556985933 CA412866205	529	H>L		No	ClinGen gnomAD
CA412866197 rs1556985930	529	H>N		No	ClinGen gnomAD
CA412866237 rs1556985940	533	L>F		No	ClinGen gnomAD
rs1556985944 CA412866242	533	L>P		No	ClinGen gnomAD
rs201654247 CA10403278	534	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	535	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1296400606 CA412866269	536	S>T		No	ClinGen TOPMed
CA412866274 rs1399430373	536	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA10403280 rs782455949	537	K>R		No	ClinGen ExAC gnomAD
TCGA novel	540	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412866330 rs1556985968	541	E>D		No	ClinGen gnomAD
rs1350574806 CA412866336	542	P>L		No	ClinGen TOPMed gnomAD
rs782218336 CA10403282	543	L>F		No	ClinGen ExAC gnomAD
CA10403281 rs782588951	543	L>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	544	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782638727 CA10403284	544	L>W		No	ClinGen ExAC TOPMed
CA10403286 rs781789122	546	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782029057 CA10403287	549	P>T		No	ClinGen ExAC gnomAD
rs1478742651 CA412866421	551	L>F		No	ClinGen TOPMed
CA329087063 rs928450732	554	F>S		No	ClinGen Ensembl
rs1556986009 CA412866498	557	P>R		No	ClinGen gnomAD
CA412866490 rs1556986001	557	P>T		No	ClinGen gnomAD
CA412866546 rs1556986013	561	S>Y		No	ClinGen gnomAD
CA412867729 rs868955773	567	S>F		No	ClinGen Ensembl
CA412867746 rs1478046012	568	T>I		No	ClinGen TOPMed gnomAD
CA412867780 rs1247952814	569	Q>R		No	ClinGen TOPMed
CA329087100 rs959875511	571	A>G		No	ClinGen TOPMed
CA10403291 rs782320463	572	S>F		No	ClinGen ExAC gnomAD
rs782092696 CA10403293	577	M>T		No	ClinGen ExAC gnomAD
CA10403295 rs782754551	579	V>G		No	ClinGen ExAC gnomAD
rs1556986051 CA412868249	587	V>G		No	ClinGen gnomAD
rs1320474236 CA412868268	588	G>A		No	ClinGen TOPMed gnomAD
rs1320474236 CA412868262	588	G>D		No	ClinGen TOPMed gnomAD
rs568082594 CA10403296	590	P>L		No	ClinGen ExAC gnomAD
CA412868373 rs1556986059	593	P>L		No	ClinGen gnomAD
CA412868366 rs1276817931	593	P>S		No	ClinGen TOPMed
CA412868390 rs1556986061	594	G>V		No	ClinGen gnomAD
CA412868398 rs1556986062	595	K>E		No	ClinGen gnomAD
rs782742616 CA10403299	600	V>A		No	ClinGen 1000Genomes ExAC gnomAD
CA412868505 rs1556986077	602	P>A		No	ClinGen gnomAD
CA412868565 rs1602121990	605	L>V		No	ClinGen Ensembl
rs782509065 CA10403302	613	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10403301 rs781832445	613	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	616	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	617	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10403303 rs782522232	618	M>I		No	ClinGen ExAC TOPMed gnomAD
rs781884817 CA10403307	631	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs41307344 CA10403309	635	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10403308 rs782206455	635	R>S		No	ClinGen ExAC TOPMed gnomAD
rs782287476 CA10403311	636	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1556986149 CA412869391	637	G>E		No	ClinGen gnomAD
CA10403312 rs782430501	637	G>R		No	ClinGen ExAC gnomAD
rs201208725 CA10403315	645	M>L		No	ClinGen 1000Genomes ExAC gnomAD
rs781971031 CA10403316	645	M>T		No	ClinGen ExAC gnomAD
rs1556986174 CA412869660	646	H>R		No	ClinGen gnomAD
rs373364674 CA10403317	649	R>C		No	ClinGen ESP ExAC gnomAD
COSM270299 CA10403318 rs781906250	649	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1556986187 CA412869752	653	K>N		No	ClinGen gnomAD
CA412869848 rs1556986194	658	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10403321 rs782695904	658	R>H		No	ClinGen ExAC gnomAD
TCGA novel	659	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782459088 CA10403323	659	V>I		No	ClinGen ExAC TOPMed gnomAD
CA412869922 rs1556986200	661	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10403324 rs782621637	661	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs199607799 CA10403326	662	R>Q	Variant assessed as Somatic; 0.0001299 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA10403327 rs782690834	665	A>G		No	ClinGen ExAC gnomAD
CA412870021 rs1556986210	665	A>T		No	ClinGen gnomAD
rs1556986218 CA412870129	670	Y>D		No	ClinGen gnomAD
rs1360873259 CA412870284	676	W>*		No	ClinGen TOPMed
CA10403329 rs782334058	679	E>G		No	ClinGen ExAC TOPMed gnomAD
CA412870372 rs1556986238	680	E>A		No	ClinGen gnomAD
TCGA novel	682	A>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA329087269 rs959987017	682	A>T		No	ClinGen Ensembl
rs782599905 CA10403330	684	A>P		No	ClinGen ExAC gnomAD
rs782229329 CA412870463	685	T>A		No	ClinGen ExAC gnomAD
rs782229329 CA10403331	685	T>P		No	ClinGen ExAC gnomAD
CA412870506 rs782002768	687	A>P		No	ClinGen ExAC TOPMed gnomAD
rs782002768 CA10403333	687	A>T		No	ClinGen ExAC TOPMed gnomAD
CA329087298 rs782490231	689	S>L		No	ClinGen Ensembl

No associated diseases with Q3MII6

1 regional properties for Q3MII6

Type	Name	Position	InterPro Accession
domain	Rab-GAP-TBC domain	225 - 457	IPR000195

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Cytoplasmic vesicle, autophagosome	It is dispersed in the cytoplasm under nutrient-rich conditions Localizes at autophagosomes under cell starving conditions
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
autophagosome	A double-membrane-bounded compartment that engulfs endogenous cellular material as well as invading microorganisms to target them to the lytic vacuole/lysosome for degradation as part of macroautophagy.
cytoplasmic vesicle	A vesicle found in the cytoplasm of a cell.

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.

3 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.
autophagy	The cellular catabolic process in which cells digest parts of their own cytoplasm; allows for both recycling of macromolecular constituents under conditions of cellular stress and remodeling the intracellular structure for cell differentiation.
regulation of autophagosome maturation	Any process that modulates the frequency, rate or extent of autophagosome maturation.

29 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P48365	GYP7	GTPase-activating protein GYP7	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
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
Q5TC63	GRTP1	Growth hormone-regulated TBC protein 1	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
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
Q8BYH7	Tbc1d17	TBC1 domain family member 17	Mus musculus (Mouse)	PR
A1A5B6	Tbc1d25	TBC1 domain family member 25	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MATASGASDL	SGSGAPPPGV	GAQAAAAAEE	EEREVVRVRV	KKCESFLPPE	FRSFAVDPQI
70	80	90	100	110	120
TSLDVLQHIL	IRAFDLSGKK	NFGISYLGRD	RLGQEVYLSL	LSDWDLSTAF	ATASKPYLQL
130	140	150	160	170	180
RVDIRPSEDS	PLLEDWDIIS	PKDVIGSDVL	LAEKRSSLTT	AALPFTQSIL	TQVGRTLSKV
190	200	210	220	230	240
QQVLSWSYGE	DVKPFKPPLS	DAEFHTYLNH	EGQLSRPEEL	RLRIYHGGVE	PSLRKVVWRY
250	260	270	280	290	300
LLNVYPDGLT	GRERMDYMKR	KSREYEQLKS	EWAQRANPED	LEFIRSTVLK	DVLRTDRAHP
310	320	330	340	350	360
YYAGPEDGPH	LRALHDLLTT	YAVTHPQVSY	CQGMSDLASP	ILAVMDHEGH	AFVCFCGIMK
370	380	390	400	410	420
RLAANFHPDG	RAMATKFAHL	KLLLRHADPD	FYQYLQEAGA	DDLFFCYRWL	LLELKREFAF
430	440	450	460	470	480
DDALRMLEVT	WSSLPPDPPE	HEVELVGPPS	QVADAGFGGH	RGWPVRQRHM	LRPAGGGGST
490	500	510	520	530	540
FEDAVDHLAT	ASQGPGGGGR	LLRQASLDGL	QQLRDNMGSR	RDPLVQLPHP	AALISSKSLS
550	560	570	580	590	600
EPLLNSPDPL	LSSFSHPDSP	SSSSPPSTQE	ASPTGDMAVG	SPLMQEVGSP	KDPGKSLPPV
610	620	630	640	650	660
PPMGLPPPQE	FGRGNPFMLF	LCLAILLEHR	DHIMRNGLDY	NELAMHFDRL	VRKHHLGRVL
670	680
RRARALFADY	LQSEVWDSEE	GAEATAAS