AiPD: Autoinhibited Protein Database

Q9BVC4

Gene name	MLST8 (GBL, LST8)
Protein name	Target of rapamycin complex subunit LST8
Names	TORC subunit LST8, G protein beta subunit-like, Gable, Protein GbetaL, Mammalian lethal with SEC13 protein 8, mLST8
Species	Homo sapiens (Human)
KEGG Pathway	hsa:64223
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

136-206 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

136-206 (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

29 structures for Q9BVC4

Entry ID	Method	Resolution	Chain	Position	Source
4JSN	X-ray	320 A	C/D	1-326	PDB
4JSP	X-ray	330 A	C/D	1-326	PDB
4JSV	X-ray	350 A	C/D	1-326	PDB
4JSX	X-ray	350 A	C/D	1-326	PDB
4JT5	X-ray	345 A	C/D	1-323	PDB
4JT6	X-ray	360 A	C/D	1-326	PDB
5FLC	EM	590 A	D/H	1-326	PDB
5H64	EM	440 A	C/c	1-326	PDB
5WBU	X-ray	342 A	C/D	1-326	PDB
5WBY	X-ray	310 A	C/D	1-326	PDB
5ZCS	EM	490 A	C/D	1-326	PDB
6BCU	EM	343 A	D/E	1-326	PDB
6BCX	EM	300 A	D/E	1-326	PDB
6SB0	EM	550 A	E/H	1-326	PDB
6SB2	EM	620 A	E/H	1-326	PDB
6ZWM	EM	320 A	C/D	1-326	PDB
6ZWO	EM	300 A	D	1-326	PDB
7OWG	EM	470 A	E	1-326	PDB
7PE7	EM	341 A	C/D	1-326	PDB
7PE8	EM	320 A	C	1-326	PDB
7PE9	EM	370 A	C	1-326	PDB
7PEA	EM	407 A	C/D	1-326	PDB
7PEB	EM	367 A	C	1-326	PDB
7PEC	EM	424 A	C	1-326	PDB
7TZO	EM	328 A	C/D	1-326	PDB
7UXC	EM	320 A	B	1-326	PDB
7UXH	EM	320 A	B/D	1-326	PDB
8ERA	EM	286 A	C	1-326	PDB
AF-Q9BVC4-F1	Predicted				AlphaFoldDB

266 variants for Q9BVC4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA394282365 rs1443101666	3	T>A		No	ClinGen TOPMed gnomAD
CA394282367 rs1443101666	3	T>S		No	ClinGen TOPMed gnomAD
rs760859672 CA7836698	5	P>S		No	ClinGen ExAC TOPMed gnomAD
CA394282399 rs1283200707	6	G>S		No	ClinGen TOPMed
CA394282417 rs1356315329	7	T>M		No	ClinGen TOPMed gnomAD
rs1356315329 CA394282418	7	T>R		No	ClinGen TOPMed gnomAD
rs1302138181 CA394282440	9	G>D		No	ClinGen gnomAD
rs762806809 CA7836703	11	D>E		No	ClinGen ExAC
rs1035857151 CA276768568	11	D>E		No	ClinGen Ensembl
CA394282481 rs1429704781	12	P>A		No	ClinGen gnomAD
CA7836705 rs752519138	12	P>L		No	ClinGen ExAC gnomAD
rs752519138 CA7836704	12	P>R		No	ClinGen ExAC gnomAD
CA394282509 rs1315459362	14	I>F		No	ClinGen gnomAD
CA276768573 rs1023001199	17	T>I		No	ClinGen Ensembl
rs368301565 CA276768572	17	T>P		No	ClinGen ESP
CA394282565 rs1212404026	18	A>G		No	ClinGen gnomAD
rs763854951 CA7836706	18	A>S		No	ClinGen ExAC TOPMed gnomAD
CA394282573 rs751155813	19	G>C		No	ClinGen ExAC gnomAD
rs751155813 CA7836707	19	G>R		No	ClinGen ExAC gnomAD
CA394282597 rs1277074880	20	Y>*		No	ClinGen Ensembl
CA394282592 rs1596711053	20	Y>C		No	ClinGen Ensembl
rs1307512507 CA394282583	20	Y>H		No	ClinGen gnomAD
rs1208833722 CA394282606	21	D>G		No	ClinGen gnomAD
CA276768576 rs752482690	21	D>N		No	ClinGen Ensembl
TCGA novel	22	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394282647 rs1255851965	23	T>I		No	ClinGen gnomAD
rs780567989 CA7836709	24	V>M		No	ClinGen ExAC gnomAD
rs1244096376 CA394282674	25	R>C		No	ClinGen gnomAD
CA7836710 rs745316292	25	R>H		No	ClinGen ExAC gnomAD
CA7836711 rs745316292	25	R>L		No	ClinGen ExAC gnomAD
rs1184954587 CA394282700	27	W>*		No	ClinGen gnomAD
rs1421936645 CA394282730	30	H>P		No	ClinGen TOPMed gnomAD
rs1421936645 CA394282732	30	H>R		No	ClinGen TOPMed gnomAD
CA7836712 rs371717510	31	S>R		No	ClinGen ESP ExAC
CA7836713 rs748566010	32	G>S		No	ClinGen ExAC gnomAD
CA394282785 rs1427362756	35	T>P		No	ClinGen gnomAD
CA394282807 rs1387581812	37	T>A		No	ClinGen gnomAD
rs1337922892 CA394282814	37	T>R		No	ClinGen Ensembl
CA394282825 rs1596711300	38	V>A		No	ClinGen Ensembl
CA7836718 rs776705854	39	Q>*		No	ClinGen ExAC gnomAD
rs778294100 CA7836751	44	Q>E		No	ClinGen ExAC gnomAD
CA276768695 rs1057489709	47	A>T		No	ClinGen Ensembl
CA7836754 rs781449247	50	V>A		No	ClinGen ExAC gnomAD
rs757618528 CA7836753	50	V>I		No	ClinGen ExAC gnomAD
CA7836756 rs374766503	52	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs774317424 CA7836760	54	R>C		No	ClinGen ExAC TOPMed gnomAD
CA394283182 rs1386926752	54	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs771982124 CA7836763	58	A>T		No	ClinGen ExAC gnomAD
CA276768705 rs944045614	58	A>V		No	ClinGen TOPMed gnomAD
CA7836764 rs773068618	59	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1269961383 CA394283301	60	A>T		No	ClinGen TOPMed
CA7836785 rs776324404	62	Y>F		No	ClinGen ExAC gnomAD
CA7836784 rs770739432	62	Y>H		No	ClinGen ExAC gnomAD
rs759025786 CA394283520	63	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs759025786 CA7836787	63	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs759025786 CA7836786	63	Q>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	66	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373967086 CA276768764	66	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7836790 rs373967086	66	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA7836792 rs756435978	67	M>L		No	ClinGen ExAC gnomAD
CA276768771 rs1023032475	71	N>K		No	ClinGen TOPMed
rs1167456568 CA394283705	73	N>S		No	ClinGen TOPMed gnomAD
rs754082217 CA7836794	74	N>S		No	ClinGen ExAC gnomAD
rs1267752831 CA394283723 COSM226772	75	P>S	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
CA394283749 rs1174833405	76	N>I		No	ClinGen gnomAD
CA7836797 rs748183550	77	P>L		No	ClinGen ExAC gnomAD
CA394283756 rs1467064071	77	P>S		No	ClinGen gnomAD
CA394283766 rs758433200	78	I>F		No	ClinGen ExAC gnomAD
CA7836798 rs758433200	78	I>V		No	ClinGen ExAC gnomAD
rs1205056881 CA394283803	79	I>T		No	ClinGen Ensembl
CA276768787 rs951414215	80	S>T		No	ClinGen Ensembl
CA394283886 rs1218863199	83	G>D		No	ClinGen TOPMed
rs745537346 CA7836803	84	V>L		No	ClinGen ExAC TOPMed gnomAD
CA394283946 rs1194722404	87	N>H		No	ClinGen TOPMed
rs202049268 CA7836806	89	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA394283995 rs1285037604 COSM1678771 COSM1678769	89	A>T	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
CA7836805 rs202049268	89	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA394284064 rs1258713906	91	V>A		No	ClinGen TOPMed gnomAD
rs1258713906 CA394284065	91	V>G		No	ClinGen TOPMed gnomAD
rs965195625 CA276768802	92	G>V		No	ClinGen Ensembl
CA7836808 rs768049038	93	F>L		No	ClinGen ExAC gnomAD
CA394284125 rs1444683621	95	E>D		No	ClinGen TOPMed
CA394284148 rs1489600551	97	G>S		No	ClinGen gnomAD
rs1200954370 CA394284160	98	R>C		No	ClinGen gnomAD
CA276768812 rs975191408	102	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA394284316 rs1434237815	104	G>C		No	ClinGen TOPMed gnomAD
CA394284319 rs1469631619	104	G>D		No	ClinGen TOPMed
CA394284318 rs1434237815	104	G>S		No	ClinGen TOPMed gnomAD
CA394284321 rs1469631619	104	G>V		No	ClinGen TOPMed
rs1362386387 CA394284324	105	E>K		No	ClinGen gnomAD
TCGA novel	106	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754088684 CA7836812	107	C>Y		No	ClinGen ExAC gnomAD
CA276768815 rs921022883	110	R>T		No	ClinGen TOPMed
rs752857010 CA7836815	113	D>G		No	ClinGen ExAC gnomAD
TCGA novel	113	D>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376063799 CA276768819	114	L>F		No	ClinGen ESP TOPMed gnomAD
rs376063799 CA394284572	114	L>V		No	ClinGen ESP TOPMed gnomAD
COSM702274 COSM702276 rs1206083673 CA394285561	116	S>F	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs766259271 CA7836877	117	R>Q	Variant assessed as Somatic; 0.0001858 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7836876 rs760546991	117	R>W		No	ClinGen ExAC gnomAD
rs753665679 CA7836878	119	L>M		No	ClinGen ExAC gnomAD
CA394285599 rs1262965614	120	Q>R		No	ClinGen TOPMed
rs764920142 CA7836880	123	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs978979894 CA276769067	123	R>W		No	ClinGen Ensembl
CA394285725 rs1462285737	126	Q>H		No	ClinGen gnomAD
rs374173728 CA7836881	127	V>M		No	ClinGen ESP ExAC gnomAD
rs1232250534 CA394285760	129	A>S		No	ClinGen TOPMed gnomAD
CA276769098 CA7836883 rs775982928	132	N>K		No	ClinGen ExAC TOPMed gnomAD
rs992540291 CA276769100	133	C>F		No	ClinGen gnomAD
rs992540291 CA394285845	133	C>Y		No	ClinGen gnomAD
CA394285859 rs1328649515	134	V>M		No	ClinGen TOPMed
CA7836885 rs756720316	135	C>Y		No	ClinGen ExAC gnomAD
rs1406710250 CA394285911	137	H>Y		No	ClinGen TOPMed
rs1333363077 CA394286047	141	A>S		No	ClinGen TOPMed
CA7836915 rs778026039	141	A>V		No	ClinGen ExAC gnomAD
rs1258644827 CA394286089	143	L>F		No	ClinGen gnomAD
TCGA novel	145	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1201528887 CA394286110	145	V>M		No	ClinGen gnomAD
CA394286125 rs1386821832	146	G>A		No	ClinGen TOPMed
rs1378687860 CA394286161	150	G>R		No	ClinGen TOPMed
CA276769204 rs377624870	152	I>V		No	ClinGen ESP TOPMed gnomAD
CA394286218 rs1469800868	155	W>*		No	ClinGen gnomAD
CA394286240 rs1174713939	157	L>W		No	ClinGen gnomAD
CA394286302 rs185180342	162	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7836921 rs775178076	163	E>K		No	ClinGen ExAC gnomAD
CA394286325 rs955853260	165	L>M		No	ClinGen gnomAD
rs1278986291 CA394286360	169	P>L		No	ClinGen gnomAD
rs762058056 CA7836925	170	E>A		No	ClinGen ExAC TOPMed gnomAD
CA394286366 rs767137398	170	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1345495981 CA394286368	171	V>I		No	ClinGen gnomAD
CA394286377 rs1281721124	172	S>Y		No	ClinGen gnomAD
CA7836929 rs201789867	174	T>M		No	ClinGen 1000Genomes ExAC gnomAD
rs200523182 CA7836934	176	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7836935 rs771076959	177	H>Q		No	ClinGen ExAC gnomAD
rs1478567672 CA394286425	179	D>H		No	ClinGen TOPMed gnomAD
rs775472115 COSM3711976 COSM3711975 CA7836939	181	D>N	upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1298857265 CA394286457	182	A>T		No	ClinGen TOPMed gnomAD
CA394286487 rs1303353498	185	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	186	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1567276856 CA394286508	187	A>T		No	ClinGen Ensembl
rs767233270 CA7836944	189	N>S		No	ClinGen ExAC TOPMed gnomAD
rs760683833 CA7836945	191	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1347149205 CA394287369	192	G>E		No	ClinGen TOPMed gnomAD
CA394287398 rs1567278866	194	C>G		No	ClinGen Ensembl
rs1262975820 CA394287431	195	Y>C		No	ClinGen TOPMed gnomAD
rs746679894 CA7836981	195	Y>H		No	ClinGen ExAC gnomAD
CA276770641 rs1033680002	196	V>I		No	ClinGen Ensembl
rs770435531 CA7836982	199	L>P		No	ClinGen ExAC gnomAD
CA7836985 rs751342348	200	T>M		No	ClinGen TOPMed gnomAD
CA7836988 rs764633818	201	G>R		No	ClinGen ExAC gnomAD
CA276770655 rs958898211	202	G>D		No	ClinGen TOPMed gnomAD
rs958898211 CA394287570	202	G>V		No	ClinGen TOPMed gnomAD
CA7836990 rs368540170	203	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7836993 rs760972001	204	G>D		No	ClinGen ExAC gnomAD
rs750693200 CA7836992	204	G>S		No	ClinGen ExAC gnomAD
CA7836996 rs755090036	206	E>D		No	ClinGen ExAC TOPMed gnomAD
rs753994134 CA394287633	206	E>K	Variant assessed as Somatic; 4.641e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs753994134 CA7836995	206	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1262644290 CA394287674	208	T>I		No	ClinGen TOPMed
rs758345094 CA7836999	209	Q>R		No	ClinGen ExAC gnomAD
CA394287765 rs1310844225	216	I>V		No	ClinGen gnomAD
rs770655101 CA7837002	217	P>L		No	ClinGen ExAC gnomAD
CA7837003 rs761521532	220	T>M		No	ClinGen ExAC TOPMed gnomAD
CA7837004 rs761521532	220	T>R		No	ClinGen ExAC TOPMed gnomAD
rs774913271 CA7837006	221	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs774913271 CA7837007	221	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7837008 rs772517170	221	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA276770745 COSM1215242 rs773318959 COSM1215244	223	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs766673856 CA7837011	223	A>V		No	ClinGen ExAC TOPMed gnomAD
rs534962837 CA7837012	225	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs375231338 CA7837013	227	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs375231338 CA394287913	227	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs750104118 CA276770763	227	R>H		No	ClinGen TOPMed gnomAD
CA394287963 rs1221289126	230	P>S		No	ClinGen gnomAD
CA276770772 rs763326806	231	D>E		No	ClinGen gnomAD
rs1353229545 CA394287970	231	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	233	T>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394287987 rs1467513600	233	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA276770773 rs1054062070	233	T>S		No	ClinGen TOPMed gnomAD
CA394288030 rs1333870591	234	L>F		No	ClinGen gnomAD
CA394288048 rs1447641122	235	L>F		No	ClinGen gnomAD
CA394288052 rs1282473715	235	L>P		No	ClinGen gnomAD
CA394288058 rs1313576548	236	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA394288071 rs1228767459	237	T>A		No	ClinGen gnomAD
rs754434276 CA7837043	237	T>S		No	ClinGen ExAC gnomAD
rs1003521928 CA276770888	238	C>Y		No	ClinGen TOPMed gnomAD
CA276770890 rs753373842	239	S>L		No	ClinGen gnomAD
CA394288106 rs753373842	239	S>W		No	ClinGen gnomAD
CA7837046 rs771415321	241	D>E		No	ClinGen ExAC gnomAD
CA394288140 rs1311308844	242	Q>E		No	ClinGen TOPMed
CA7837047 rs755425949	243	T>M	Variant assessed as Somatic; 4.641e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7837050 rs377379362	245	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA394288247 rs774431592	249	T>K		No	ClinGen ExAC gnomAD
CA7837053 rs774431592	249	T>M		No	ClinGen ExAC gnomAD
rs936353742 CA276770950	251	N>T		No	ClinGen TOPMed gnomAD
CA394288285 rs1382733677	252	F>L		No	ClinGen TOPMed
CA7837055 rs767448333	253	S>F		No	ClinGen ExAC TOPMed gnomAD
CA394288324 rs1439598143	255	M>T		No	ClinGen TOPMed
rs755883886 CA7837057	256	T>M		No	ClinGen ExAC TOPMed gnomAD
rs753486259 CA7837059	257	E>Q		No	ClinGen ExAC gnomAD
CA7837060 rs754592791	257	E>V		No	ClinGen ExAC gnomAD
CA394288440 rs1484032853	261	K>N		No	ClinGen TOPMed
CA7837062 rs747648829	261	K>R		No	ClinGen ExAC gnomAD
rs757738583 CA7837063	262	S>I		No	ClinGen ExAC
CA394288471 rs1477112386	263	G>D		No	ClinGen gnomAD
CA7837065 rs567308797	263	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA394288482 rs1196512995	264	N>D		No	ClinGen gnomAD
rs775926957 CA7837067	266	G>R		No	ClinGen ExAC gnomAD
CA7837068 rs749482046	268	S>C		No	ClinGen ExAC gnomAD
rs1170972235 CA394288539	268	S>P		No	ClinGen gnomAD
CA276770965 rs977546789	270	R>C		No	ClinGen TOPMed gnomAD
rs774324416 CA7837070	270	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs924595496 CA276770968	271	G>A		No	ClinGen TOPMed
rs1447669253 CA394288694	274	W>*		No	ClinGen TOPMed gnomAD
CA394288691 rs1298743222	274	W>*		No	ClinGen gnomAD
rs201091044 CA7837072	275	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7837073 rs368651599	276	C>Y		No	ClinGen ESP ExAC gnomAD
CA7837075 rs766166968	277	A>T		No	ClinGen ExAC gnomAD
rs910505050 CA276770978	277	A>V		No	ClinGen TOPMed gnomAD
rs753576676 CA7837077	279	S>L		No	ClinGen ExAC gnomAD
rs1388290371 CA394288804	280	G>E		No	ClinGen gnomAD
CA394288808 rs1451606255	281	D>N		No	ClinGen gnomAD
CA7837083 rs757910498	285	I>L		No	ClinGen ExAC TOPMed gnomAD
CA394288943 rs200094349	285	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs757910498 CA7837082	285	I>V		No	ClinGen ExAC TOPMed gnomAD
CA7837086 rs374883203	286	V>I		No	ClinGen ExAC TOPMed gnomAD
rs779171881 CA7837089	288	A>T		No	ClinGen ExAC gnomAD
CA7837146 rs757361634	289	S>C		No	ClinGen ExAC gnomAD
rs781350612 CA7837147	290	S>L		No	ClinGen ExAC TOPMed gnomAD
CA394289648 rs756116009	292	N>S		No	ClinGen ExAC TOPMed gnomAD
rs756116009 CA7837149	292	N>T		No	ClinGen ExAC TOPMed gnomAD
CA7837151 rs749151528	294	A>T		No	ClinGen ExAC gnomAD
CA7837154 rs747819184	295	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs778785134 CA7837153	295	R>W		No	ClinGen ExAC TOPMed gnomAD
CA394289701 rs1347285506	297	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs760076755 CA7837157	298	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA394289721 rs1353340265	299	V>L		No	ClinGen gnomAD
rs1353340265 CA394289719	299	V>M		No	ClinGen gnomAD
CA7837158 rs201873488	300	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA276771144 rs764888927	300	E>Q		No	ClinGen Ensembl
CA276771152 rs771311622	301	T>A		No	ClinGen TOPMed gnomAD
CA7837161 rs764452200	302	G>A		No	ClinGen ExAC TOPMed gnomAD
rs764452200 CA394289752	302	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1220782085 CA394289748	302	G>R		No	ClinGen TOPMed gnomAD
CA394289754 rs764452200	302	G>V		No	ClinGen ExAC TOPMed gnomAD
CA7837162 rs370260573	303	E>K		No	ClinGen ESP ExAC gnomAD
CA7837163 rs370260573	303	E>Q		No	ClinGen ESP ExAC gnomAD
CA394289766 rs1410929657	304	I>L		No	ClinGen gnomAD
rs1421443220 CA394289786	306	R>T		No	ClinGen TOPMed
rs756134806 CA7837166	307	E>D		No	ClinGen ExAC
rs1408614629 CA394289805	309	G>S		No	ClinGen TOPMed
CA394289810 rs1237182624	309	G>V		No	ClinGen gnomAD
rs754907016 CA7837169	310	G>D		No	ClinGen ExAC gnomAD
rs753830623 CA7837168	310	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1401758016 CA394289823	311	H>Q		No	ClinGen gnomAD
rs957837582 CA276771158	313	K>T		No	ClinGen Ensembl
TCGA novel	314	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375508690 CA394289852	316	V>I		No	ClinGen Ensembl
rs375508690 CA276771160	316	V>L		No	ClinGen Ensembl
CA394289870 rs1468384133	317	C>S		No	ClinGen TOPMed
CA394289883 rs1238949761	318	L>V		No	ClinGen TOPMed
CA394289921 rs1327058290	321	N>D		No	ClinGen gnomAD
rs776803028 CA276771162	321	N>S		No	ClinGen Ensembl
rs966386530 CA276771164	323	S>G		No	ClinGen Ensembl
rs771801420 CA7837172	324	V>M		No	ClinGen ExAC TOPMed gnomAD
CA394289976 rs1281313283	325	L>M		No	ClinGen gnomAD

No associated diseases with Q9BVC4

8 regional properties for Q9BVC4

Type	Name	Position	InterPro Accession
repeat	WD40 repeat	31 - 69	IPR001680-1
repeat	WD40 repeat	74 - 156	IPR001680-2
repeat	WD40 repeat	159 - 198	IPR001680-3
repeat	WD40 repeat	209 - 307	IPR001680-4
conserved_site	WD40 repeat, conserved site	100 - 114	IPR019775
repeat	G-protein beta WD-40 repeat	100 - 114	IPR020472-1
repeat	G-protein beta WD-40 repeat	235 - 249	IPR020472-2
repeat	G-protein beta WD-40 repeat	285 - 299	IPR020472-3

Functions

		Description
EC Number
Subcellular Localization	Lysosome membrane Cytoplasm	Targeting to lysosomal membrane depends on amino acid availability: mTORC1 is recruited to lysosome membranes via interaction with GTP-bound form of RagA/RRAGA (or RagB/RRAGB) in complex with the GDP-bound form of RagC/RRAGC (or RagD/RRAGD), promoting its mTORC1 recruitment to the lysosomes
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
TORC1 complex	A protein complex that contains at least TOR (target of rapamycin) and Raptor (regulatory-associated protein of TOR), or orthologs of, in complex with other signaling components. Mediates the phosphorylation and activation of S6K. In Saccharomyces, the complex contains Kog1p, Lst8p, Tco89p, and either Tor1p or Tor2p.
TORC2 complex	A protein complex that contains at least TOR (target of rapamycin) and Rictor (rapamycin-insensitive companion of TOR), or orthologs of, in complex with other signaling components. Mediates the phosphorylation and activation of PKB (also called AKT). In Saccharomyces, the complex contains Avo1p, Avo2p, Tsc11p, Lst8p, Bit61p, Slm1p, Slm2p, and Tor2p.

1 GO annotations of molecular function

Name	Definition
protein serine/threonine kinase activator activity	Binds to and increases the activity of a protein serine/threonine kinase.

19 GO annotations of biological process

Name	Definition
cellular response to DNA damage stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism.
cellular response to hypoxia	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level.
cellular response to nutrient levels	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of nutrients.
cellular response to osmotic stress	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating an increase or decrease in the concentration of solutes outside the organism or cell.
cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures.
negative regulation of apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
negative regulation of autophagy	Any process that stops, prevents, or reduces the frequency, rate or extent of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm.
phosphorylation	The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide.
positive regulation of actin filament polymerization	Any process that activates or increases the frequency, rate or extent of actin polymerization.
positive regulation of cell growth	Any process that activates or increases the frequency, rate, extent or direction of cell growth.
positive regulation of glycolytic process	Any process that activates or increases the frequency, rate or extent of glycolysis.
positive regulation of lipid biosynthetic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of lipids.
positive regulation of pentose-phosphate shunt	Any process that activates or increases the frequency, rate or extent of pentose-phosphate shunt.
positive regulation of peptidyl-tyrosine phosphorylation	Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-tyrosine.
positive regulation of TOR signaling	Any process that activates or increases the frequency, rate or extent of TOR signaling.
regulation of actin cytoskeleton organization	Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
regulation of GTPase activity	Any process that modulates the rate of GTP hydrolysis by a GTPase.
TOR signaling	The series of molecular signals mediated by TOR (Target of rapamycin) proteins, members of the phosphoinositide (PI) 3-kinase related kinase (PIKK) family that act as serine/threonine kinases in response to nutrient availability or growth factors.
TORC1 signaling	A series of intracellular molecular signals mediated by TORC1; TOR (target of rapamycin) in complex with at least Raptor (regulatory-associated protein of TOR), or orthologs of, and other signaling components.

No homologous proteins in AiPD

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

10	20	30	40	50	60
MNTSPGTVGS	DPVILATAGY	DHTVRFWQAH	SGICTRTVQH	QDSQVNALEV	TPDRSMIAAA
70	80	90	100	110	120
GYQHIRMYDL	NSNNPNPIIS	YDGVNKNIAS	VGFHEDGRWM	YTGGEDCTAR	IWDLRSRNLQ
130	140	150	160	170	180
CQRIFQVNAP	INCVCLHPNQ	AELIVGDQSG	AIHIWDLKTD	HNEQLIPEPE	VSITSAHIDP
190	200	210	220	230	240
DASYMAAVNS	TGNCYVWNLT	GGIGDEVTQL	IPKTKIPAHT	RYALQCRFSP	DSTLLATCSA
250	260	270	280	290	300
DQTCKIWRTS	NFSLMTELSI	KSGNPGESSR	GWMWGCAFSG	DSQYIVTASS	DNLARLWCVE
310	320
TGEIKREYGG	HQKAVVCLAF	NDSVLG