AiPD: Autoinhibited Protein Database

P19484

Gene name	TFEB
Protein name	Transcription factor EB
Names	Class E basic helix-loop-helix protein 35, bHLHe35
Species	Homo sapiens (Human)
KEGG Pathway	hsa:7942
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-476 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-476 (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

5 structures for P19484

Entry ID	Method	Resolution	Chain	Position	Source
7UX2	EM	290 A	P	1-476	PDB
7UXC	EM	320 A	R	1-476	PDB
7UXH	EM	320 A	T/j	1-476	PDB
7Y62	X-ray	200 A	A/B	248-319	PDB
AF-P19484-F1	Predicted				AlphaFoldDB

360 variants for P19484

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA138093147 rs1009313546	2	A>V		No	ClinGen gnomAD
TCGA novel	3	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364109584 rs1323239139	4	R>C		No	ClinGen gnomAD
CA138093134 rs1053600522	4	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA364109521 rs1289665036	8	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs775220771 CA3801590	13	R>L		No	ClinGen ExAC gnomAD
COSM1444498 CA3801589 rs775220771	13	R>Q	NS large_intestine Variant assessed as Somatic; 5.429e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs768013768 CA3801591 COSM1672404	13	R>W	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA364109446 rs1414395646	16	A>T		No	ClinGen gnomAD
rs769780108 CA3801588	16	A>V		No	ClinGen ExAC TOPMed gnomAD
CA364109395 rs1175390402	18	Q>K		No	ClinGen gnomAD
rs1489364755 CA364109343	20	E>G		No	ClinGen gnomAD
rs1466869940 CA364109295	22	R>Q		No	ClinGen gnomAD
CA364109301 rs1212743510	22	R>W		No	ClinGen gnomAD
rs747182166 CA3801584	23	E>D		No	ClinGen ExAC gnomAD
CA3801583 rs758345276	24	R>C		No	ClinGen ExAC gnomAD
rs779275045 CA3801580	24	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs779275045 CA3801581	24	R>L		No	ClinGen ExAC TOPMed gnomAD
CA3801582 rs758345276	24	R>S		No	ClinGen ExAC gnomAD
rs912280262 CA138092972	25	M>I		No	ClinGen Ensembl
rs755546119 CA3801579	25	M>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA364109222 rs1368820263	26	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA364109205 rs1439083154	27	Q>K		No	ClinGen gnomAD
CA364109187 rs1391152798	28	Q>*		No	ClinGen TOPMed gnomAD
TCGA novel	29	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1321410510 CA364109171	29	A>S		No	ClinGen gnomAD
CA364109149 rs754169648	30	V>F		No	ClinGen ExAC TOPMed gnomAD
rs754169648 CA3801577	30	V>I		No	ClinGen ExAC TOPMed gnomAD
CA3801576 rs766777120	31	M>I		No	ClinGen ExAC gnomAD
CA364109129 rs1156920244	31	M>V		No	ClinGen gnomAD
rs756491079 CA364109102	32	H>D		No	ClinGen ExAC gnomAD
rs751129305 CA3801574	32	H>R		No	ClinGen ExAC TOPMed gnomAD
rs756491079 CA3801575	32	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs762308294 CA3801572	34	M>L		No	ClinGen ExAC gnomAD
CA364108998 rs1362836940	35	Q>E		No	ClinGen TOPMed
CA138092924 rs930729175	38	Q>K		No	ClinGen TOPMed
CA3801571 rs150746914	40	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1258425442 CA364108836	41	Q>R		No	ClinGen gnomAD
rs1396065578 CA364108803	42	Q>L		No	ClinGen gnomAD
CA138092911 rs920105606	45	L>I		No	ClinGen gnomAD
rs1232586578 CA364108686	46	G>E		No	ClinGen gnomAD
CA3801562 rs776735262	46	G>R		No	ClinGen ExAC TOPMed gnomAD
CA364108661 rs1367767356	47	G>E		No	ClinGen gnomAD
rs112978677 CA3801561	48	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	49	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773250890 CA3801559	50	T>A		No	ClinGen ExAC gnomAD
rs773250890 CA364108612	50	T>P		No	ClinGen ExAC gnomAD
rs199806477 CA3801558	51	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1020301102 CA138092877	52	A>T		No	ClinGen TOPMed gnomAD
CA364108517 rs1172878311	55	T>A		No	ClinGen gnomAD
CA138092876 rs989657892	55	T>N		No	ClinGen TOPMed
CA364108515 rs1172878311	55	T>P		No	ClinGen gnomAD
rs749744873 CA364108497	56	P>L		No	ClinGen ExAC gnomAD
rs749744873 CA3801554	56	P>R		No	ClinGen ExAC gnomAD
rs750809443 CA3801551	57	V>A		No	ClinGen ExAC TOPMed gnomAD
rs756401217 CA364108492	57	V>F		No	ClinGen ExAC TOPMed gnomAD
rs756401217 CA3801552	57	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs756401217 CA138092823	57	V>L		No	ClinGen ExAC TOPMed gnomAD
CA3801550 rs763636856	61	S>L		No	ClinGen ExAC TOPMed gnomAD
rs999187566 CA364108394	63	P>L		No	ClinGen TOPMed gnomAD
rs999187566 CA138092806	63	P>R		No	ClinGen TOPMed gnomAD
CA3801548 rs752129807	64	P>L		No	ClinGen ExAC gnomAD
CA138092798 rs752664763	64	P>S		No	ClinGen TOPMed
rs1581879621 CA364108303	69	V>E		No	ClinGen Ensembl
CA138092627 rs1048213228	76	L>R		No	ClinGen TOPMed
CA364108000 rs1169506393	82	Y>C		No	ClinGen TOPMed
CA364107985 rs1291494004	83	H>Y		No	ClinGen gnomAD
CA364107963 rs1561851683	84	L>V		No	ClinGen Ensembl
CA3801530 rs778715283	90	Q>H		No	ClinGen ExAC gnomAD
CA364107797 rs1428060360	91	K>R		No	ClinGen Ensembl
rs1394029477 CA364107781	92	V>L		No	ClinGen gnomAD
CA3801526 rs760706046	93	R>L		No	ClinGen ExAC TOPMed gnomAD
CA3801527 rs760706046	93	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3801528 rs374238733	93	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1581879141 CA364107700	95	Y>*		No	ClinGen Ensembl
rs781007634 CA138092554	97	S>A		No	ClinGen Ensembl
CA364107650 rs1473263334	98	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA364107654 rs1473263334	98	E>Q		No	ClinGen TOPMed gnomAD
CA364107596 rs1364901947	100	Y>C		No	ClinGen TOPMed gnomAD
rs768875430 CA3801521	102	N>K		No	ClinGen ExAC gnomAD
rs1346699769 CA364107547	102	N>S		No	ClinGen TOPMed
CA364107554 rs1277822981	102	N>Y		No	ClinGen TOPMed
CA364107494 rs890814726	104	F>C		No	ClinGen gnomAD
CA138092530 rs890814726	104	F>S		No	ClinGen gnomAD
rs1215893543 CA364107484	105	A>T		No	ClinGen TOPMed
CA3801520 rs370824879	106	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA364107450 rs1271467021	106	A>V		No	ClinGen gnomAD
rs940663147 CA138092478	110	P>S		No	ClinGen TOPMed gnomAD
rs746340602 CA3801517	111	A>D		No	ClinGen ExAC TOPMed gnomAD
CA3801518 rs770182531	111	A>T		No	ClinGen ExAC TOPMed gnomAD
rs564579264 CA3801516	112	Q>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1430440554 CA364107349	113	G>D		No	ClinGen gnomAD
CA3801515 rs771263853	114	S>C		No	ClinGen ExAC gnomAD
CA3801513 rs746642722	115	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3801514 rs544888820	115	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA364107273 rs1581878810	116	K>N		No	ClinGen Ensembl
rs753367483 CA3801511	117	P>L		No	ClinGen ExAC gnomAD
CA364107226 rs1417381607	119	P>S		No	ClinGen gnomAD
rs138679180 CA364107196	121	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs138679180 CA3801509	121	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs867320791 CA138092392	123	P>L		No	ClinGen Ensembl
CA364107136 rs1434277850	124	G>R		No	ClinGen TOPMed
rs750334320 CA3801508	125	V>A		No	ClinGen ExAC TOPMed
rs750334320 CA364107113	125	V>E		No	ClinGen ExAC TOPMed
CA3801507 rs746778219	126	R>Q		No	ClinGen ExAC gnomAD
rs751410442 CA3801505	127	A>D		No	ClinGen ExAC
CA3801506 rs761608824	127	A>T		No	ClinGen ExAC TOPMed gnomAD
rs764292602 CA3801504	129	H>R		No	ClinGen ExAC gnomAD
rs75455499 CA138092350	130	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs75455499 CA3801502	130	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769882166 CA3801501	131	L>R		No	ClinGen ExAC gnomAD
CA3801498 rs747374333	135	A>S		No	ClinGen ExAC TOPMed gnomAD
CA3801497 rs747374333	135	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1273804383 CA364106890	137	N>D		No	ClinGen TOPMed
rs1469708651 CA364106884	137	N>S		No	ClinGen TOPMed
CA3801493 rs768400942	141	N>S		No	ClinGen ExAC gnomAD
CA3801494 rs768400942	141	N>T		No	ClinGen ExAC gnomAD
rs140986611 CA3801492	148	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779602633 CA3801491	151	S>C		No	ClinGen ExAC TOPMed gnomAD
rs370256165 CA3801490	155	R>T		No	ClinGen ESP ExAC gnomAD
rs374091927 CA3801471	157	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1433434596 CA364104597	159	D>V		No	ClinGen TOPMed
rs780602753 CA3801470	162	D>V		No	ClinGen ExAC gnomAD
rs1188640179 CA364104524	163	N>D		No	ClinGen gnomAD
CA3801469 rs562329587	165	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA364104454 rs369743790	166	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3801468 rs369743790	166	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3801467 rs376705826	166	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA364104413 rs146588109	168	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	168	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364104407 rs1311125282 COSM188238	169	D>N	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA3801465 rs752495595	170	V>A		No	ClinGen ExAC gnomAD
TCGA novel	170	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364104349 rs1336389507	171	L>P		No	ClinGen gnomAD
rs765494413 CA3801464	172	G>D		No	ClinGen ExAC TOPMed gnomAD
CA364104238 rs1463483509	175	N>S		No	ClinGen TOPMed
rs1262423668 CA364104252	175	N>Y		No	ClinGen TOPMed
rs373670508 CA138091168	178	M>I		No	ClinGen Ensembl
CA364104114 rs1232083162	179	Q>H		No	ClinGen gnomAD
rs1354151368 CA364104083	180	M>I		No	ClinGen gnomAD
CA138091131 rs932375573	183	T>M		No	ClinGen TOPMed gnomAD
rs755195756 CA3801463	183	T>S		No	ClinGen ExAC gnomAD
CA3801437 rs764312703	185	P>A		No	ClinGen ExAC gnomAD
CA3801436 rs764312703	185	P>T		No	ClinGen ExAC gnomAD
TCGA novel	188	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3801435 rs763384049	189	S>G		No	ClinGen ExAC TOPMed gnomAD
rs890308456 CA138089780	193	V>M		No	ClinGen TOPMed
rs909431482 CA138089775	194	Y>C		No	ClinGen Ensembl
CA364102615 rs1177769583	195	S>G		No	ClinGen gnomAD
rs76998171 CA3801433	195	S>N		No	ClinGen 1000Genomes ExAC TOPMed
CA3801432 rs760177344	196	S>N		No	ClinGen ExAC gnomAD
rs747987166 CA3801429	197	D>A		No	ClinGen ExAC gnomAD
rs948054939 CA138089722	197	D>E		No	ClinGen TOPMed gnomAD
CA3801430 rs771976205	197	D>N		No	ClinGen ExAC TOPMed gnomAD
CA3801428 rs778939845	198	P>A		No	ClinGen ExAC gnomAD
rs367958829 CA3801427	198	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs778939845 CA364102522	198	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs916548197 CA138089696	199	Q>H		No	ClinGen gnomAD
rs1400378753 CA364102478	199	Q>P		No	ClinGen TOPMed
TCGA novel	199	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780408177 CA3801425	200	V>I		No	ClinGen ExAC gnomAD
CA364102425 rs1395450019	201	T>A		No	ClinGen gnomAD
CA364102396 rs1249153367	202	A>T		No	ClinGen gnomAD
TCGA novel	206	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3801423 rs374124410	207	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs757376682 CA138089655	210	S>N		No	ClinGen ExAC gnomAD
rs757376682 CA3801421	210	S>T		No	ClinGen ExAC gnomAD
CA3801419 rs370711905	214	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs370711905 CA3801420	214	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs868112818 CA138089597	215	D>N		No	ClinGen Ensembl
rs1231438633 CA364101810	217	T>N		No	ClinGen gnomAD
CA364101799 rs1309522121	218	Q>*		No	ClinGen gnomAD
CA364101766 rs1296508913	220	R>G		No	ClinGen gnomAD
CA3801416 rs765986780	220	R>L		No	ClinGen ExAC TOPMed gnomAD
rs765986780 CA3801417	220	R>P		No	ClinGen ExAC TOPMed gnomAD
rs202212685 CA3801388	226	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA3801387 rs201131499	227	S>N		No	ClinGen ExAC TOPMed gnomAD
CA364101411 rs1242504063	228	R>S		No	ClinGen gnomAD
rs1283565397 CA364101427	228	R>T		No	ClinGen gnomAD
CA364101379 rs1337401046	229	A>D		No	ClinGen gnomAD
rs1561849014 CA364101346	231	A>T		No	ClinGen Ensembl
rs745674792 CA364101287	233	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1285660720 CA364101295	233	E>G		No	ClinGen TOPMed
rs1445719642 CA364101307	233	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1327480600 CA364101262	234	R>W		No	ClinGen TOPMed gnomAD
CA364101227 rs1461547993	235	Q>R		No	ClinGen gnomAD
CA3801385 rs776983107	239	N>S		No	ClinGen ExAC gnomAD
CA138089049 rs267601030	244	E>K		No	ClinGen Ensembl
COSM188235 CA364100692 rs1323946945	247	R>*	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA3801353 rs757971193	249	F>Y		No	ClinGen ExAC gnomAD
TCGA novel	250	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1298190231 CA364100576	251	I>L		No	ClinGen gnomAD
COSM3411100 rs1561848484 CA364100438	254	R>C	Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs369055043 CA3801351	259	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1414215408 CA364100223	260	M>I		No	ClinGen gnomAD
rs1174695475 CA364100241	260	M>V		No	ClinGen gnomAD
rs111941202 CA138089033	262	I>V		No	ClinGen gnomAD
rs759599553 CA3801350	266	N>S		No	ClinGen ExAC TOPMed gnomAD
CA138089011 rs761666378	267	D>G		No	ClinGen Ensembl
CA364099962 rs1475823563	268	L>P		No	ClinGen gnomAD
rs1281647905 CA364098443	269	D>H		No	ClinGen gnomAD
rs762070252 CA3801324	270	V>M		No	ClinGen ExAC TOPMed gnomAD
CA364098342 rs1463113136	271	R>C		No	ClinGen gnomAD
rs1395304773 CA364098326	271	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1165467802 CA364098280	272	W>L		No	ClinGen gnomAD
CA364098129 rs1411484013	276	T>I		No	ClinGen gnomAD
CA138088214 rs778301600	288	M>I		No	ClinGen TOPMed gnomAD
rs764114762 CA364097820	290	K>N		No	ClinGen ExAC TOPMed gnomAD
CA364097804 rs1176395140	291	D>G		No	ClinGen gnomAD
CA364097777 rs1469468774	292	L>V		No	ClinGen gnomAD
rs762944057 CA3801321	293	Q>R		No	ClinGen ExAC TOPMed
rs1265530890 CA364097728	294	K>T		No	ClinGen TOPMed gnomAD
CA138088196 rs901217074	296	R>T		No	ClinGen Ensembl
CA3801320 rs776003877	302	S>A		No	ClinGen ExAC TOPMed gnomAD
CA138088184 rs779208482	303	R>C		No	ClinGen TOPMed gnomAD
CA3801319 rs770274294	303	R>H		No	ClinGen ExAC TOPMed gnomAD
rs144086780 CA3801317	304	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs771448522 CA3801316 COSM1292321	304	R>H	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs771448522 CA364097473	304	R>L		No	ClinGen ExAC gnomAD
rs1406716158 CA364097392 CA364097404	307	M>L		No	ClinGen TOPMed
CA138088157 rs901553385	310	K>M		No	ClinGen TOPMed
rs778713362 CA3801313	313	W>R		No	ClinGen ExAC gnomAD
CA3801311 rs748808677	315	R>C	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3801310 rs371625604	315	R>H		No	ClinGen ESP ExAC gnomAD
rs1237023857 CA364097070	317	Q>*		No	ClinGen TOPMed
CA364097033 rs1561847710	317	Q>R		No	ClinGen Ensembl
rs1345982768 CA364096530	320	E>D		No	ClinGen TOPMed
rs1431016061 CA364096409	324	R>*		No	ClinGen gnomAD
rs202215923 CA3801294	324	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1193680037 CA364096370	325	V>M		No	ClinGen gnomAD
rs768261155 CA3801292	327	G>S		No	ClinGen ExAC gnomAD
rs1303746066 CA364096282	327	G>V		No	ClinGen TOPMed
COSM3782067 rs748799545 CA3801291	329	P>S	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA364096182 rs1327037506	331	T>I		No	ClinGen gnomAD
rs1581866892 CA364096199	331	T>P		No	ClinGen Ensembl
TCGA novel	332	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1229048 CA3801290 rs779478102	333	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA364096088 rs1276196091	335	G>D		No	ClinGen gnomAD
rs781108610 CA3801287	335	G>S		No	ClinGen ExAC gnomAD
CA3801286 rs567571109	336	M>R		No	ClinGen ExAC TOPMed gnomAD
CA138087324 rs567571109	336	M>T		No	ClinGen ExAC TOPMed gnomAD
CA3801285 rs751412099	342	A>S		No	ClinGen ExAC TOPMed gnomAD
rs866984388 CA138087311	343	Q>H		No	ClinGen TOPMed gnomAD
CA364095724 rs1182009836	345	V>M		No	ClinGen TOPMed
rs868060082 CA138087271	346	V>L		No	ClinGen Ensembl
CA364095658 rs1477181026	348	Q>E		No	ClinGen TOPMed gnomAD
CA138087247 rs867074696	348	Q>H		No	ClinGen Ensembl
CA364095634 rs1171621513	349	E>Q		No	ClinGen gnomAD
CA138087243 rs758600931 CA364095514	352	S>R		No	ClinGen ExAC TOPMed gnomAD
rs369557141 CA3801282	353	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs369557141 CA3801281	353	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	354	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA138087211 rs547336694	356	P>Q		No	ClinGen Ensembl
CA138087194 rs936413114	357	G>E		No	ClinGen TOPMed gnomAD
CA3801280 rs759665669	357	G>W		No	ClinGen ExAC gnomAD
CA3801279 rs754340609	359	A>V		No	ClinGen ExAC gnomAD
rs1366588408 CA364095272	361	M>L		No	ClinGen TOPMed
TCGA novel	362	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364095202 rs1316107258	363	G>E		No	ClinGen TOPMed gnomAD
CA138087165 rs764174709	364	A>D		No	ClinGen Ensembl
rs761119145 CA3801277	364	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs944195458 CA138087152	366	V>A		No	ClinGen TOPMed gnomAD
rs773749768 CA3801276	366	V>I		No	ClinGen ExAC gnomAD
CA3801275 rs768331806	368	D>H		No	ClinGen ExAC TOPMed gnomAD
rs912791145 CA138087149	370	E>K		No	ClinGen Ensembl
CA364094949 rs1397486669	371	P>L		No	ClinGen gnomAD
rs762463547 CA3801274	372	L>M		No	ClinGen ExAC TOPMed gnomAD
CA364094938 rs1458873873	372	L>P		No	ClinGen gnomAD
CA3801273 rs775238854	374	A>P		No	ClinGen ExAC gnomAD
rs930265945 CA138087113	375	L>P		No	ClinGen Ensembl
rs745391817 CA3801271	376	P>L		No	ClinGen ExAC TOPMed gnomAD
rs769115164 CA3801272	376	P>S		No	ClinGen ExAC gnomAD
CA3801269 rs371923346	377	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA364094808 rs1357002894	378	Q>*		No	ClinGen gnomAD
CA364094795 rs1242401930	378	Q>H		No	ClinGen TOPMed gnomAD
rs1264743239 CA364094803	378	Q>R		No	ClinGen gnomAD
rs1355580154 CA364094778	379	A>V		No	ClinGen gnomAD
CA3801267 rs199923357	380	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA364094739 rs1374118771	381	L>P		No	ClinGen gnomAD
TCGA novel	382	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200813055 CA3801265	382	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1386801729 CA364094735	382	P>T		No	ClinGen gnomAD
rs958777837 CA138087049	383	L>M		No	ClinGen gnomAD
CA364094693 rs1381296377	384	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3801263 rs367953835	385	T>I		No	ClinGen ExAC gnomAD
rs1581866195 CA364094675	385	T>P		No	ClinGen Ensembl
CA3801261 rs766963551	388	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3801262 rs529500196	388	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	390	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364094514 rs1451086472	392	H>R		No	ClinGen TOPMed gnomAD
rs1207976107 CA364094488	393	H>P		No	ClinGen gnomAD
rs1024834290 CA138087010	393	H>Y		No	ClinGen TOPMed gnomAD
CA138086997 rs1009886529	394	L>P		No	ClinGen Ensembl
rs1239113356 CA364094369	398	H>Y		No	ClinGen gnomAD
CA364094313 rs1233394725	401	S>G		No	ClinGen gnomAD
CA3801258 rs61756225	401	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA364094241 rs1230529997	404	G>D		No	ClinGen TOPMed
CA3801257 rs762238012	404	G>S		No	ClinGen ExAC gnomAD
CA364094235 rs1294083758	405	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs774944667 CA3801256	407	D>G		No	ClinGen ExAC
rs1361655992 CA364094222	407	D>N		No	ClinGen gnomAD
CA3801254 rs148691652	408	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs200419657 CA364094144	410	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200419657 CA3801252	410	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA138086984 rs767286999	411	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3801250 rs767286999	411	P>R		No	ClinGen ExAC TOPMed gnomAD
CA3801251 rs200070041	411	P>S		No	ClinGen ExAC gnomAD
rs1169110709 CA364094061	412	G>D		No	ClinGen gnomAD
CA3801248 rs748034892	412	G>R		No	ClinGen ExAC gnomAD
rs1263752675 CA364093997	414	P>L		No	ClinGen gnomAD
rs749355801 CA3801245	415	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA364093941 rs1280376075	416	P>S		No	ClinGen gnomAD
CA3801243 rs756293100	417	L>V		No	ClinGen ExAC gnomAD
rs750828378 CA364093904	418	A>E		No	ClinGen ExAC TOPMed gnomAD
COSM1079233 CA3801242 rs750828378	418	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs757546185 COSM339204 CA3801240	419	P>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA364093824 rs764763608 CA3801238	420	G>R		No	ClinGen ExAC gnomAD
rs776300374 CA3801236	421	H>Y		No	ClinGen ExAC gnomAD
CA3801234 rs760195807	424	P>A		No	ClinGen ExAC gnomAD
TCGA novel	424	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201604256 CA3801233	425	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA364093681 rs1478178081	426	P>L		No	ClinGen gnomAD
rs772114655 CA3801232	427	S>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	429	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1238997128 CA364093646	430	K>E		No	ClinGen gnomAD
rs1441515853 CA364093589	432	D>E		No	ClinGen gnomAD
rs1052269027 CA138086869	432	D>Y		No	ClinGen TOPMed
CA364093543 rs1317959655	436	M>T		No	ClinGen gnomAD
rs1200035703 CA364093550	436	M>V		No	ClinGen gnomAD
rs1258054412 CA364093521	438	L>P		No	ClinGen gnomAD
CA364093505 rs149888805	439	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs981508062 CA138086846	440	D>N		No	ClinGen gnomAD
CA3801228 rs749480529	444	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1447698474 CA364093455	444	P>S		No	ClinGen gnomAD
TCGA novel	449	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3801227 rs780428161	450	L>F		No	ClinGen ExAC gnomAD
CA364093324 rs1581865394	452	S>P		No	ClinGen Ensembl
rs1168548008 CA364093293	453	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3801224 rs781543713	454	M>L		No	ClinGen ExAC gnomAD
rs781543713 CA3801225	454	M>V		No	ClinGen ExAC gnomAD
CA3801223 rs757820612	455	S>F		No	ClinGen ExAC gnomAD
rs1040783093 CA138086780	456	P>L		No	ClinGen TOPMed
rs200747432 CA3801220	457	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1240931901 CA364093188	458	A>D		No	ClinGen TOPMed gnomAD
rs753435246 CA3801219	462	S>I		No	ClinGen ExAC gnomAD
CA364093058 rs1236877222	463	S>R		No	ClinGen TOPMed
rs369809425 CA3801218	464	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA3801217 rs758123474	464	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	465	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772819310 CA3801216	465	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3801215 rs767336673	466	S>N		No	ClinGen ExAC TOPMed gnomAD
rs111268347 CA138086712	469	S>I		No	ClinGen Ensembl
CA138086711 rs112562920	470	M>V		No	ClinGen Ensembl
CA364092768 rs1376346178	472	E>K		No	ClinGen gnomAD
CA3801213 rs376769581	473	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1338998836 CA364092710	474	D>A		No	ClinGen TOPMed
rs749108653 CA364092722	474	D>N		No	ClinGen ExAC TOPMed
CA3801211 rs749108653	474	D>Y		No	ClinGen ExAC TOPMed
rs1165355047 CA364092690	475	V>E		No	ClinGen TOPMed gnomAD
rs1165355047 CA364092688	475	V>G		No	ClinGen TOPMed gnomAD

No associated diseases with P19484

4 regional properties for P19484

Type	Name	Position	InterPro Accession
domain	Myc-type, basic helix-loop-helix (bHLH) domain	235 - 294	IPR011598
domain	MiT/TFE transcription factors, C-terminal	321 - 473	IPR021802
domain	Transcription factor EB, bHLHzip domain	226 - 316	IPR024098
domain	MiT/TFE transcription factors, N-terminal	4 - 162	IPR031867

Functions

		Description
EC Number
Subcellular Localization	Nucleus Cytoplasm, cytosol Lysosome membrane	Mainly present in the cytoplasm (PubMed:23434374, PubMed:33691586, PubMed:35662396) When nutrients are present, recruited to the lysosomal membrane via association with GDP-bound RagC/RRAGC (or RagD/RRAGD): it is then phosphorylated by MTOR (PubMed:23401004, PubMed:32612235, PubMed:36697823) Phosphorylation by MTOR prevents nuclear translocation and activity by promoting interaction with 14-3-3 proteins, such as YWHAZ (PubMed:22343943, PubMed:22692423, PubMed:23401004, PubMed:25720963, PubMed:32612235, PubMed:32753672, PubMed:35662396, PubMed:36697823, PubMed:37079666) Under aberrant lysosomal storage conditions, it translocates from the cytoplasm to the nucleus (PubMed:21617040, PubMed:22576015, PubMed:23434374, PubMed:25720963, PubMed:32753672) The translocation to the nucleus is regulated by ATP13A2 (PubMed:23434374, PubMed:27278822) Conversely, inhibition of mTORC1, starvation and lysosomal disruption, promotes dephosphorylation and translocation to the nucleus (PubMed:22343943, PubMed:22692423, PubMed:37079666) Exported from the nucleus in response to nutrient availability (PubMed:30120233) In macrophages, translocates into the nucleus upon live S enterica infection (PubMed:27184844)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
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.
lysosomal membrane	The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

7 GO annotations of molecular function

Name	Definition
DNA-binding transcription factor activity	A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons.
DNA-binding transcription factor activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
enzyme binding	Binding to an enzyme, a protein with catalytic activity.
protein dimerization activity	The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits.
RNA polymerase II cis-regulatory region sequence-specific DNA binding	Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.
sequence-specific double-stranded DNA binding	Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding.
transcription cis-regulatory region binding	Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon.

15 GO annotations of biological process

Name	Definition
adaptive immune response	An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory).
antibacterial innate immune response	An defense response against a bacteria mediated through an innate immune response. An innate immune response is mediated by germline encoded components that directly recognize components of potential pathogens.
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.
cellular response to amino acid starvation	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 deprivation of amino acids.
cellular response to starvation	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 deprivation of nourishment.
embryonic placenta development	The embryonically driven process whose specific outcome is the progression of the placenta over time, from its formation to the mature structure. The placenta is an organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin.
humoral immune response	An immune response mediated through a body fluid.
lysosome localization	Any process in which a lysosome is transported to, and/or maintained in, a specific location.
lysosome organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a lysosome. A lysosome is a cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases.
positive regulation of autophagy	Any process that activates, maintains or increases the rate of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm.
positive regulation of DNA-templated transcription	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
regulation of DNA-templated transcription	Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.
regulation of gene expression	Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q15853	USF2	Upstream stimulatory factor 2	Homo sapiens (Human)	PR
Q08874	Mitf	Microphthalmia-associated transcription factor	Mus musculus (Mouse)	PR
Q9R210	Tfeb	Transcription factor EB	Mus musculus (Mouse)	PR
Q8S3F1	NAI1	Transcription factor NAI1	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MASRIGLRMQ	LMREQAQQEE	QRERMQQQAV	MHYMQQQQQQ	QQQQLGGPPT	PAINTPVHFQ
70	80	90	100	110	120
SPPPVPGEVL	KVQSYLENPT	SYHLQQSQHQ	KVREYLSETY	GNKFAAHISP	AQGSPKPPPA
130	140	150	160	170	180
ASPGVRAGHV	LSSSAGNSAP	NSPMAMLHIG	SNPERELDDV	IDNIMRLDDV	LGYINPEMQM
190	200	210	220	230	240
PNTLPLSSSH	LNVYSSDPQV	TASLVGVTSS	SCPADLTQKR	ELTDAESRAL	AKERQKKDNH
250	260	270	280	290	300
NLIERRRRFN	INDRIKELGM	LIPKANDLDV	RWNKGTILKA	SVDYIRRMQK	DLQKSRELEN
310	320	330	340	350	360
HSRRLEMTNK	QLWLRIQELE	MQARVHGLPT	TSPSGMNMAE	LAQQVVKQEL	PSEEGPGEAL
370	380	390	400	410	420
MLGAEVPDPE	PLPALPPQAP	LPLPTQPPSP	FHHLDFSHSL	SFGGREDEGP	PGYPEPLAPG
430	440	450	460	470
HGSPFPSLSK	KDLDLMLLDD	SLLPLASDPL	LSTMSPEASK	ASSRRSSFSM	EEGDVL