AiPD: Autoinhibited Protein Database

Q9UJQ1

Gene name	LAMP5 (C20orf103)
Protein name	Lysosome-associated membrane glycoprotein 5
Names	Brain and dendritic cell-associated LAMP, Brain-associated LAMP-like protein, BAD-LAMP, Lysosome-associated membrane protein 5, LAMP-5
Species	Homo sapiens (Human)
KEGG Pathway	hsa:24141
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

149-219 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

149-219 (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 Q9UJQ1

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9UJQ1-F1	Predicted				AlphaFoldDB

283 variants for Q9UJQ1

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA9761789 rs745390525	2	D>G		No	ClinGen ExAC TOPMed gnomAD
rs780512894 CA9761788	2	D>N		No	ClinGen ExAC TOPMed gnomAD
CA9761791 rs780064366	7	G>R		No	ClinGen ExAC gnomAD
rs768566208 CA9761793	10	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1378773112 CA408217063	10	S>N		No	ClinGen TOPMed
CA9761794 rs774344559	10	S>R		No	ClinGen ExAC
rs2232259 CA9761796 VAR_014401	12	D>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs747169778 CA9761795	12	D>H		No	ClinGen ExAC gnomAD
TCGA novel	13	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA311300369 rs923917124	15	R>G		No	ClinGen TOPMed
CA9761798 rs142852865	15	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs765279015 CA9761799	16	V>I		No	ClinGen ExAC gnomAD
CA311300377 rs989365527	17	L>P		No	ClinGen TOPMed gnomAD
CA9761801 rs776030154	18	L>P		No	ClinGen ExAC gnomAD
rs1555890904 CA408217116	19	M>I		No	ClinGen Ensembl
rs1482630555 CA408217111	19	M>L		No	ClinGen TOPMed
CA9761804 rs146492415	20	L>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs375192273 CA9761803	20	L>V		No	ClinGen ESP ExAC gnomAD
CA408217185 rs1243940347	25	A>G		No	ClinGen TOPMed gnomAD
CA408217178 rs1338590371	25	A>S		No	ClinGen TOPMed gnomAD
rs1338590371 CA408217179 COSM1198525	25	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA408217186 rs1243940347	25	A>V		No	ClinGen TOPMed gnomAD
rs767821171 CA9761825	26	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA9761826 rs750059774	27	I>T		No	ClinGen ExAC gnomAD
CA9761827 rs760301818	28	M>I		No	ClinGen ExAC gnomAD
CA408217224 rs1256955820	29	A>T		No	ClinGen gnomAD
rs1163952317 CA408217263	32	E>A		No	ClinGen TOPMed
CA408217308 rs1473806566	36	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1184540341 CA408217329	38	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9761828 rs765856589	39	L>F		No	ClinGen ExAC TOPMed gnomAD
rs765856589 CA9761829	39	L>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	40	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9761832 rs752728026	43	P>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	43	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779013828 CA9761831	43	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA408217386 rs1219819939	44	E>Q		No	ClinGen TOPMed
rs188938901 CA9761833	45	K>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA408217416 rs1470156970	46	D>G		No	ClinGen gnomAD
CA9761834 rs777491312	46	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs769925728 CA9761836	47	I>T		No	ClinGen ExAC TOPMed gnomAD
rs746094624 CA9761835	47	I>V		No	ClinGen ExAC gnomAD
rs780045082 CA9761837	48	F>L		No	ClinGen ExAC gnomAD
rs915573750 CA408217436	48	F>S		No	ClinGen TOPMed gnomAD
rs915573750 CA311300628	48	F>Y		No	ClinGen TOPMed gnomAD
COSM382217 CA408217453 rs1327688705	50	V>L	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1327688705 CA408217456	50	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs749403731 CA9761839	51	R>L		No	ClinGen ExAC TOPMed gnomAD
CA9761838 rs749403731	51	R>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	51	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9761840 rs774819206	52	E>K		No	ClinGen ExAC TOPMed gnomAD
rs774819206 CA408217469	52	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA408217481 rs1323752592	53	N>H		No	ClinGen gnomAD
rs762267414 CA9761841	55	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9761842 rs772481702	56	T>A		No	ClinGen ExAC gnomAD
CA311300638 rs561706014	56	T>M		No	ClinGen 1000Genomes
CA311300641 rs948624392	58	L>F		No	ClinGen Ensembl
CA408217559 rs1478849518	60	A>T		No	ClinGen gnomAD
CA9761844 rs760308599	67	I>V		No	ClinGen ExAC gnomAD
CA9761845 rs766159136	68	V>I		No	ClinGen ExAC gnomAD
TCGA novel	69	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9761846 rs753348807	69	P>T		No	ClinGen ExAC gnomAD
CA311300654 rs1046082394	72	V>M		No	ClinGen TOPMed gnomAD
TCGA novel	74	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764877550 CA9761848	77	Y>*		No	ClinGen ExAC gnomAD
CA9761849 rs752672884	78	V>I		No	ClinGen ExAC gnomAD
rs752672884 CA9761850	78	V>L		No	ClinGen ExAC gnomAD
rs1297087079 CA408217745	79	D>E		No	ClinGen gnomAD
rs539934985 CA311300664	79	D>G		No	ClinGen gnomAD
CA408217740 rs1171815695	79	D>H		No	ClinGen TOPMed gnomAD
CA408217739 rs1171815695	79	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA408217741 rs1171815695	79	D>Y		No	ClinGen TOPMed gnomAD
VAR_014402 CA311300893 rs2232263	81	I>V		No	ClinGen UniProt Ensembl dbSNP
rs1380478007 CA408217784	84	Q>*		No	ClinGen gnomAD
CA408217794 rs1375667972	85	A>V		No	ClinGen TOPMed
CA408217805 rs1321183696	87	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9761899 rs111470150	88	A>G		No	ClinGen ExAC TOPMed gnomAD
CA408217812 rs141039910	88	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9761898 rs141039910	88	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA408217827 rs1207351466	90	T>I		No	ClinGen TOPMed
CA9761901 rs774126242	91	R>G		No	ClinGen ExAC gnomAD
CA9761902 rs761808367	91	R>L		No	ClinGen ExAC TOPMed gnomAD
rs761808367 CA408217830	91	R>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	91	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408217833 rs1172391510	92	G>R		No	ClinGen gnomAD
CA9761904 rs750223029	92	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1043799708 CA311300919	93	A>G		No	ClinGen Ensembl
CA9761906 rs765397994	93	A>T		No	ClinGen ExAC gnomAD
CA408217840 rs1450888902	94	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA311300926 rs943507191	95	V>A		No	ClinGen TOPMed
rs1282938172 CA408217869	98	R>C		No	ClinGen TOPMed gnomAD
rs1282938172 CA408217867	98	R>S		No	ClinGen TOPMed gnomAD
CA9761908 rs758376086	100	G>D		No	ClinGen ExAC gnomAD
CA408217891 rs1219263144	101	H>P		No	ClinGen gnomAD
rs1363744729 CA408217897	102	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs777973130 CA408217900	102	S>R		No	ClinGen ExAC gnomAD
VAR_014403 CA9761910 rs2232264	103	Q>E		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2232264 CA9761911	103	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9761912 rs781637924	103	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA9761913 rs781637924	103	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA311300946 rs866710466	104	S>L		No	ClinGen Ensembl
rs779553604 CA408217933	107	Q>H		No	ClinGen ExAC gnomAD
CA9761914 rs769524620	107	Q>K		No	ClinGen ExAC gnomAD
rs768048488 CA9761917	108	V>A		No	ClinGen ExAC gnomAD
rs749010297 CA9761916	108	V>L		No	ClinGen ExAC gnomAD
rs1475469447 TCGA novel CA408217948	109	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
rs773969469 CA9761918	110	W>*		No	ClinGen ExAC gnomAD
CA408217949 rs1195162189	110	W>G		No	ClinGen gnomAD
CA408217969 rs1603167523	111	V>G		No	ClinGen Ensembl
CA9761920 rs772027641	112	D>G		No	ClinGen ExAC gnomAD
CA9761919 rs200509210	112	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772027641 CA408217977	112	D>V		No	ClinGen ExAC gnomAD
CA9761921 rs772943023	113	R>P		No	ClinGen ExAC TOPMed gnomAD
rs766236127 CA9761923	114	A>S		No	ClinGen ExAC gnomAD
CA9761924 rs752855315	114	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1400719278 CA408218012	116	A>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA408218007 rs1448951801	116	A>T		No	ClinGen TOPMed
rs1400719278 CA408218015	116	A>V		No	ClinGen TOPMed gnomAD
rs1300157566 CA408218018	117	L>F		No	ClinGen TOPMed gnomAD
TCGA novel	118	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA311300979 rs748276398	119	M>I		No	ClinGen TOPMed
CA9761927 rs772339940	122	V>A		No	ClinGen ExAC TOPMed gnomAD
CA408218107 CA408218104 rs1350456295	123	K>N		No	ClinGen TOPMed
rs751690343 CA9761929	123	K>R		No	ClinGen ExAC gnomAD
CA9761928 rs751690343	123	K>T		No	ClinGen ExAC gnomAD
rs1197693394 CA408218143	124	E>*		No	ClinGen gnomAD
TCGA novel	124	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1246547158 CA408218159	125	S>N	Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs531685123 CA408218163	125	S>R		No	ClinGen 1000Genomes ExAC gnomAD
CA408218190 rs1334836634	127	N>I		No	ClinGen TOPMed gnomAD
rs376266110 CA9761960	127	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA408218204 rs1285427766	128	M>I		No	ClinGen TOPMed gnomAD
CA9761961 rs770904140	128	M>V		No	ClinGen ExAC gnomAD
TCGA novel	129	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1233133960 CA408218227	130	K>N		No	ClinGen TOPMed
rs146768664 CA9761963	131	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs776246013 COSM226403 CA9761962	131	G>R	NS [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1272062378 CA408218243	132	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1403872303 CA408218241	132	P>S		No	ClinGen gnomAD
rs968003473 CA311301096	135	T>A		No	ClinGen TOPMed
CA311301100 rs551482155	135	T>I		No	ClinGen 1000Genomes
rs1173544016 CA408218276	136	W>G		No	ClinGen Ensembl
rs1373700297 CA408218314	139	S>R		No	ClinGen TOPMed
CA9761967 rs767693086	141	V>L		No	ClinGen ExAC gnomAD
CA9761968 rs773439024	142	Q>K		No	ClinGen ExAC gnomAD
rs761022614 CA9761969	142	Q>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs766941686 CA408218387	146	D>E		No	ClinGen ExAC gnomAD
CA408218378 rs1266747130	146	D>H		No	ClinGen TOPMed gnomAD
rs1266747130 CA408218380	146	D>Y		No	ClinGen TOPMed gnomAD
rs1434660029 CA408218403	148	S>W		No	ClinGen TOPMed
TCGA novel	151	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755337994 CA9761972	151	T>S		No	ClinGen ExAC gnomAD
CA9761973 rs765655602	152	H>L		No	ClinGen ExAC TOPMed gnomAD
CA9761974 rs765655602	152	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1458514359 COSM1029385 CA408218461	154	K>E	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs758056122 CA9761975	157	V>I		No	ClinGen ExAC gnomAD
CA9761976 VAR_014404 rs2232266	158	S>G		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs746557308 CA9761977	159	A>T		No	ClinGen ExAC TOPMed gnomAD
CA9762006 rs779928986	160	G>A		No	ClinGen ExAC gnomAD
CA9762007 rs749128930	161	K>E		No	ClinGen ExAC gnomAD
rs370533918 CA9762008	162	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA408219017 rs1343541598	163	T>A		No	ClinGen TOPMed gnomAD
CA9762010 rs747261412	163	T>I		No	ClinGen ExAC gnomAD
CA9762013 rs369320779 COSM1495115	166	S>L	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA408219054 rs369320779	166	S>W		No	ClinGen ExAC TOPMed gnomAD
rs1057286144 CA311301740	167	H>L		No	ClinGen TOPMed gnomAD
CA408219063 rs1057286144	167	H>R		No	ClinGen TOPMed gnomAD
rs763284065 CA9762016	167	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1159178573 CA408219076	168	H>L		No	ClinGen gnomAD
rs373923121 CA408219069	168	H>N		No	ClinGen ESP TOPMed gnomAD
rs373923121 CA311301743	168	H>Y		No	ClinGen ESP TOPMed gnomAD
rs1361905727 CA408219086	169	L>H		No	ClinGen gnomAD
rs551662654 CA9762019 COSM1495114	170	S>F	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs766994885 CA9762020	171	A>V		No	ClinGen ExAC gnomAD
CA408219111 rs1037651469	172	L>M		No	ClinGen TOPMed gnomAD
CA408219112 rs1037651469	172	L>V		No	ClinGen TOPMed gnomAD
rs1388118205 CA408219134	174	T>A		No	ClinGen gnomAD
CA9762022 rs749906296	174	T>I		No	ClinGen ExAC gnomAD
CA9762021 rs749906296	174	T>N		No	ClinGen ExAC gnomAD
TCGA novel	174	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9762024 rs571568578	175	P>T		No	ClinGen 1000Genomes ExAC gnomAD
CA408219152 rs140401099	176	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
COSM279348 CA9762026 rs140401099	176	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs747195497 CA9762027	177	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	178	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771059272 CA9762028	178	K>E		No	ClinGen ExAC gnomAD
TCGA novel	179	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9762029 rs529073599	180	Y>C		No	ClinGen ExAC gnomAD
CA9762031 rs769907848	181	E>D		No	ClinGen ExAC gnomAD
rs745966700 CA9762030	181	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1453503417 CA408219219	182	C>R		No	ClinGen gnomAD
CA311301768 rs755370376	182	C>Y		No	ClinGen gnomAD
rs367768327 CA9762033	185	Q>L		No	ClinGen ESP ExAC gnomAD
rs367768327 CA9762032	185	Q>R		No	ClinGen ESP ExAC gnomAD
CA9762034 rs371250828	186	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs1157782852 CA408219282	187	T>S		No	ClinGen gnomAD
rs527594563 CA408219321	191	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs527594563 CA311301775	191	A>T		No	ClinGen Ensembl
CA408219342 rs1369241796	193	S>G		No	ClinGen gnomAD
CA408219353 rs772802166	193	S>I		No	ClinGen ExAC gnomAD
rs772802166 CA9762038	193	S>N		No	ClinGen ExAC gnomAD
CA408219359 rs1467903187	194	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs137866690 CA9762041	195	P>L		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs137866690 CA9762040	195	P>R		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA9762039 rs760241822	195	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs765012076 CA9762043	197	K>*		No	ClinGen ExAC TOPMed gnomAD
rs202101525 CA9762044 COSM287178	198	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA9762047 rs746132396	201	M>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	202	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9762048 rs756184676	202	I>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	203	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1384450508 CA408219425	204	S>P		No	ClinGen Ensembl
CA9762049 rs780169385	205	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1568943305 CA408219459	207	H>P		No	ClinGen Ensembl
rs192318071 CA311301803	208	I>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs192318071 CA9762052	208	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748485662 CA9762053	209	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs753204090 CA9762054	210	P>S		No	ClinGen ExAC TOPMed gnomAD
rs753204090 CA408219490	210	P>T		No	ClinGen ExAC TOPMed gnomAD
CA9762055 rs772992841	211	F>Y		No	ClinGen ExAC gnomAD
rs1467098335 CA408219528	213	I>V		No	ClinGen TOPMed
rs760460582 CA9762056	214	I>N		No	ClinGen ExAC
CA311301809 rs961885441	214	I>V		No	ClinGen TOPMed gnomAD
CA311301817 rs878909071	216	D>A		No	ClinGen Ensembl
CA311301820 rs878909071	216	D>G		No	ClinGen Ensembl
CA9762059 rs143065055	218	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9762061 rs752726869	220	S>N		No	ClinGen ExAC gnomAD
CA9762062 rs758094275	221	E>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	223	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763008784 CA9762079	223	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	224	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA311288928 rs111239272	226	P>L		No	ClinGen Ensembl
rs763822071 CA9762080	226	P>S		No	ClinGen ExAC gnomAD
TCGA novel	226	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9762081 rs766696500	229	E>A		No	ClinGen ExAC TOPMed gnomAD
CA311288935 rs368961716	230	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9762083 rs766611504	230	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9762082 rs368961716	230	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373205650 CA408218038	233	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs373205650 COSM3963840 CA9762084	233	L>V	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA408218053 COSM724632 rs1179915173	234	E>Q	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1482777783 CA408218080	235	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs377714830 CA9762085	236	T>I		No	ClinGen ExAC TOPMed gnomAD
CA9762086 rs377714830	236	T>N		No	ClinGen ExAC TOPMed gnomAD
rs377714830 CA408218114	236	T>S		No	ClinGen ExAC TOPMed gnomAD
CA9762089 rs758947661	237	L>F		No	ClinGen ExAC TOPMed
CA9762090 rs373796071	238	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1172305579 CA408218125	238	P>S		No	ClinGen gnomAD
rs1228157352 CA408218149	240	I>T		No	ClinGen TOPMed
TCGA novel	241	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	243	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs900617862 CA311289004	243	L>P		No	ClinGen Ensembl
CA408218197 rs900617862	243	L>R		No	ClinGen Ensembl
rs200039263 CA9762092	247	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1311139853 CA408218277	248	V>A		No	ClinGen TOPMed
CA9762094 COSM258545 rs755490520	248	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs769176682 CA9762095	249	I>F		No	ClinGen ExAC TOPMed gnomAD
rs1368314464 CA408218312	250	M>T		No	ClinGen TOPMed
rs1390196138 CA408218303	250	M>V		No	ClinGen gnomAD
rs202200983 CA9762097	251	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs202200983 CA408218336	251	V>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9762099 rs570664155	253	L>F		No	ClinGen ExAC TOPMed gnomAD
rs761575388 COSM97924 CA9762101	254	A>V	upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	258	V>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759816132 CA9762104 COSM3770896	258	V>I	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA408218498 rs1420415682	260	H>N		No	ClinGen gnomAD
TCGA novel	260	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408218506 rs1189791481	260	H>R		No	ClinGen TOPMed
rs1433213422 CA408218536	264	A>T		No	ClinGen Ensembl
rs758925669 CA9762107	267	V>A		No	ClinGen ExAC gnomAD
rs752851981 CA9762106	267	V>L		No	ClinGen ExAC gnomAD
TCGA novel	268	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408218572 rs1251279039	269	I>V		No	ClinGen TOPMed
CA408218584 rs1351422444	270	P>T		No	ClinGen gnomAD
CA9762109 rs372920766	271	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs371063794 CA9762108	271	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781664839 CA408218597	272	D>N		No	ClinGen ExAC gnomAD
CA9762111 rs781664839	272	D>Y		No	ClinGen ExAC gnomAD
CA408218605 rs1603176730	273	R>K		No	ClinGen Ensembl
CA9762113 rs375922757	278	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs575036265 CA9762114	279	M>L		No	ClinGen 1000Genomes ExAC gnomAD
CA408218672 rs575036265	279	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA9762115 rs748852728	280	G>R		No	ClinGen ExAC gnomAD
TCGA novel	281	G>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q9UJQ1

No regional properties for Q9UJQ1

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9UJQ1

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane ; Single-pass type I membrane protein Endoplasmic reticulum-Golgi intermediate compartment membrane ; Single-pass type I membrane protein Endosome membrane ; Single-pass type I membrane protein Cytoplasmic vesicle membrane ; Single-pass type I membrane protein Cell projection, dendrite Cell projection, growth cone membrane ; Single-pass type I membrane protein Early endosome membrane ; Single-pass type I membrane protein Recycling endosome	Recycles from the vesicles of the endocytic recycling compartment (ERC) to the plasma membrane (By similarity) Colocalizes with UNC93B1 in large endosomal intracellular vesicles (PubMed:21642595) Accumulates in the endoplasmic reticulum-Golgi intermediate compartment (ERGIC) before its disappearance upon activation by CpG dinucleotides (PubMed:21642595) Associates with cortical membranes (PubMed:21642595) Localizes mostly in cytoplasmic vesicles of neuronal cell body (By similarity) Localizes to synaptic vesicles in a subset of GABAergic neurons (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

13 GO annotations of cellular component

Name	Definition
anchoring junction	A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
cytoplasmic vesicle membrane	The lipid bilayer surrounding a cytoplasmic vesicle.
dendrite membrane	The portion of the plasma membrane surrounding a dendrite.
early endosome membrane	The lipid bilayer surrounding an early endosome.
endoplasmic reticulum-Golgi intermediate compartment membrane	The lipid bilayer surrounding any of the compartments of the endoplasmic reticulum (ER)-Golgi intermediate compartment system.
endosome membrane	The lipid bilayer surrounding an endosome.
growth cone membrane	The portion of the plasma membrane surrounding a growth cone.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
late endosome membrane	The lipid bilayer surrounding a late endosome.
lysosomal membrane	The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
recycling endosome membrane	The lipid bilayer surrounding a recycling endosome.
synaptic vesicle membrane	The lipid bilayer surrounding a synaptic vesicle.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name	Definition
establishment of protein localization to organelle	The directed movement of a protein to a specific location on or in an organelle. Encompasses establishment of localization in the membrane or lumen of a membrane-bounded organelle.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A4FV27	LAMP5	Lysosome-associated membrane glycoprotein 5	Bos taurus (Bovine)	PR

10	20	30	40	50	60
MDLQGRGVPS	IDRLRVLLML	FHTMAQIMAE	QEVENLSGLS	TNPEKDIFVV	RENGTTCLMA
70	80	90	100	110	120
EFAAKFIVPY	DVWASNYVDL	ITEQADIALT	RGAEVKGRCG	HSQSELQVFW	VDRAYALKML
130	140	150	160	170	180
FVKESHNMSK	GPEATWRLSK	VQFVYDSSEK	THFKDAVSAG	KHTANSHHLS	ALVTPAGKSY
190	200	210	220	230	240
ECQAQQTISL	ASSDPQKTVT	MILSAVHIQP	FDIISDFVFS	EEHKCPVDER	EQLEETLPLI
250	260	270
LGLILGLVIM	VTLAIYHVHH	KMTANQVQIP	RDRSQYKHMG