AiPD: Autoinhibited Protein Database

Q9Y5X3

Gene name	SNX5
Protein name	Sorting nexin-5
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:27131
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-54 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-54 (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

12 structures for Q9Y5X3

Entry ID	Method	Resolution	Chain	Position	Source
1SYS	X-ray	240 A	C	257-265	PDB
5TGH	X-ray	280 A	A/C/E/G	22-170	PDB
5TGI	X-ray	198 A	A/B	22-170	PDB
5TGJ	X-ray	260 A	A/C	22-170	PDB
5WY2	X-ray	190 A	A/C	20-180	PDB
6N5X	X-ray	205 A	A	22-170	PDB
6N5Y	X-ray	226 A	A	22-170	PDB
6N5Z	X-ray	245 A	A/B	22-170	PDB
8A1G	X-ray	250 A	C/D	195-404	PDB
8ABQ	X-ray	281 A	C/D	195-404	PDB
8AFZ	EM	1000 A	B	1-404	PDB
AF-Q9Y5X3-F1	Predicted				AlphaFoldDB

329 variants for Q9Y5X3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs994077057 CA312311350	2	A>D		No	ClinGen Ensembl
rs536264072 CA312311341	3	A>G		No	ClinGen 1000Genomes
rs1223001375 CA408338206	3	A>T		No	ClinGen TOPMed
CA408338194 rs1429655738	5	P>A		No	ClinGen gnomAD
CA312311331 rs898048064	8	L>P		No	ClinGen Ensembl
TCGA novel	8	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408338170 rs1236181971	9	Q>*		No	ClinGen gnomAD
rs774358404 CA9774820	9	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA408338161 rs1261428214	10	Q>*		No	ClinGen TOPMed
rs1170529332 CA408338160	10	Q>P		No	ClinGen gnomAD
rs1270248894 CA408338150	11	Q>H		No	ClinGen TOPMed
rs146288789 CA9774819	11	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1196691857 CA408338135	13	E>V		No	ClinGen TOPMed
CA312311314 rs1045114799	15	R>H		No	ClinGen TOPMed
CA9774701 rs776654591	19	R>S		No	ClinGen ExAC gnomAD
CA408336155 rs1288689832	21	V>I		No	ClinGen TOPMed
rs1350964494 CA408336141	23	V>M		No	ClinGen gnomAD
rs771005650 CA408336133	24	D>G		No	ClinGen ExAC TOPMed gnomAD
CA9774700 rs771005650	24	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1600346707 CA408336127	25	L>R		No	ClinGen Ensembl
CA9774698 rs373912588	25	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA408336122 rs1283660391	26	N>S		No	ClinGen gnomAD
rs1026667819 CA312306029	27	V>A		No	ClinGen TOPMed gnomAD
rs1382781142 CA408336108	28	D>E		No	ClinGen gnomAD
rs114912822 CA9774696	28	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA408336113 rs1349743268	28	D>N		No	ClinGen gnomAD
CA9774695 rs780017698	30	S>L		No	ClinGen ExAC TOPMed gnomAD
CA408336091 rs1471065829	31	L>P		No	ClinGen gnomAD
rs995623696 CA312306017	32	Q>L		No	ClinGen Ensembl
CA9774692 rs780781748	34	D>E		No	ClinGen ExAC TOPMed gnomAD
CA408336063 rs1244276135	35	I>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA9774691 rs549069341	35	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA9774687 rs758771996	38	A>V		No	ClinGen ExAC TOPMed
CA408336042 rs1201444495	39	L>V		No	ClinGen gnomAD
CA9774686 rs376524578	41	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA408336021 rs1263564623	42	R>*		No	ClinGen gnomAD
rs1217738961 CA408336019	42	R>K		No	ClinGen gnomAD
rs61756173 CA9774683	43	D>E		No	ClinGen 1000Genomes ESP TOPMed gnomAD
CA9774685 rs765668419	43	D>Y		No	ClinGen ExAC gnomAD
rs1005095808 CA312305992	45	V>G		No	ClinGen Ensembl
rs906768804 CA312305989	46	K>R		No	ClinGen TOPMed gnomAD
rs906768804 CA408335992	46	K>T		No	ClinGen TOPMed gnomAD
TCGA novel	50	H>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9774682 rs759972900	50	H>Y		No	ClinGen ExAC gnomAD
rs754353468 CA9774681	51	T>R		No	ClinGen ExAC gnomAD
rs769618774 CA312305279	53	T>S		No	ClinGen Ensembl
rs1182192347 CA408335669	54	T>P		No	ClinGen gnomAD
CA9774652 rs774645859	55	L>R		No	ClinGen ExAC gnomAD
rs199902705 CA9774651 COSM241709	57	T>M	prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA312305267 rs201197486	58	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9774649 rs201197486	58	F>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1222326524 CA408335562	60	S>T		No	ClinGen gnomAD
CA9774647 rs747003104	61	P>R		No	ClinGen ExAC gnomAD
rs747066909 CA312305261	61	P>S		No	ClinGen Ensembl
CA9774645 rs771628005	64	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1157675881 CA408335355	70	E>Q		No	ClinGen gnomAD
rs1157685266 CA408335344	70	E>V		No	ClinGen gnomAD
rs1385171593 CA408335272	73	V>G		No	ClinGen TOPMed
rs1055378835 CA312305241	73	V>L		No	ClinGen TOPMed gnomAD
rs1398612701 CA408335250	74	W>*		No	ClinGen gnomAD
rs755301238 CA9774641	76	H>R		No	ClinGen ExAC TOPMed gnomAD
CA408335223 rs1158931744	76	H>Y		No	ClinGen gnomAD
rs1201572215 CA408335190	77	D>G		No	ClinGen TOPMed gnomAD
CA408335199 rs1266496870	77	D>H		No	ClinGen gnomAD
CA312305234 rs780016243	79	L>F		No	ClinGen Ensembl
rs577883790 CA312305228	80	I>F		No	ClinGen 1000Genomes
rs367713822 CA9774640	80	I>T		No	ClinGen ESP ExAC gnomAD
CA9774638 rs373578457	81	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1568593211 CA408335135	82	T>I		No	ClinGen Ensembl
CA9774637 rs756537371	83	T>I		No	ClinGen ExAC
rs141800072 CA9774635	85	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1004171492 CA312305206	87	G>A		No	ClinGen TOPMed
CA9774634 rs757425738	89	I>T		No	ClinGen ExAC gnomAD
CA312304740 rs913634871	90	I>V		No	ClinGen TOPMed gnomAD
rs1451501722 CA408334637	91	P>L		No	ClinGen gnomAD
CA312304736 rs6045116	92	P>L		No	ClinGen Ensembl
rs200913564 CA9774609	93	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9774610 rs778034613	93	A>S		No	ClinGen ExAC TOPMed gnomAD
rs200913564 CA9774608	93	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA312304725 rs6045115	94	P>L		No	ClinGen Ensembl
rs765972467 CA9774607	95	T>M		No	ClinGen ExAC TOPMed gnomAD
rs750292296 CA9774605	97	P>S		No	ClinGen ExAC gnomAD
CA9774603 rs761676504 COSM1024838	98	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1330102667 CA408334586	100	D>G		No	ClinGen TOPMed
CA9774602 rs773810235	101	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs541944674 CA9774601	102	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA312304702 rs751333774	103	R>*		No	ClinGen Ensembl
COSM1024837 CA9774600 rs762534744	103	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA9774599 rs775180856	104	E>G		No	ClinGen ExAC gnomAD
TCGA novel	105	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408334510 rs1249955302	112	G>S		No	ClinGen TOPMed gnomAD
CA9774597 rs143544203	114	G>R		No	ClinGen ESP ExAC
CA312304684 rs936831855	114	G>V		No	ClinGen TOPMed gnomAD
CA408334488 rs1308559056	115	S>C		No	ClinGen gnomAD
CA408334485 rs1295701590	116	M>V		No	ClinGen TOPMed gnomAD
rs1244533541 CA408334467	118	K>R		No	ClinGen gnomAD
rs1380134146 CA408334443	121	F>S		No	ClinGen gnomAD
rs771429766 CA9774595	122	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs747525681 CA9774594	124	M>T		No	ClinGen ExAC gnomAD
rs1259856845 CA408334402	127	E>Q		No	ClinGen TOPMed
TCGA novel	128	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758612407 CA9774592	128	L>V		No	ClinGen ExAC gnomAD
CA408334384 rs1318554267	129	E>D		No	ClinGen TOPMed
TCGA novel	129	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752967148 CA9774591	130	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1357902492 CA408334366	131	E>Q		No	ClinGen TOPMed
COSM1410560 rs1600341213 CA408334343	134	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
CA408334326 rs1453349729	136	F>L		No	ClinGen gnomAD
rs759144343 CA9774574	139	T>S		No	ClinGen ExAC TOPMed gnomAD
CA9774573 rs776990029	140	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1568591713 CA408334258	141	S>C		No	ClinGen Ensembl
rs149308583 CA9774571	142	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA408334227 rs1202750132	143	H>Q		No	ClinGen TOPMed
CA9774570 rs747509316	143	H>R		No	ClinGen ExAC gnomAD
CA408334184 rs1259439663	146	F>C		No	ClinGen TOPMed
rs138864959 CA9774568	147	L>V		No	ClinGen ESP ExAC gnomAD
rs911518496 CA9774566	148	Q>E		No	ClinGen TOPMed
rs755184448 CA9774563	149	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9774564 rs775618449	149	R>W		No	ClinGen ExAC TOPMed gnomAD
CA9774562 rs749474204	150	L>P		No	ClinGen ExAC gnomAD
CA9774561 rs780981111	151	S>T		No	ClinGen ExAC gnomAD
CA408334095 rs1306556533	153	H>Q		No	ClinGen TOPMed
CA312304020 rs766537375	155	V>F		No	ClinGen TOPMed
rs1381652637 CA408334025	158	K>T		No	ClinGen gnomAD
rs1377629220 CA408334016	159	D>H		No	ClinGen TOPMed
CA9774559 rs562671037	160	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA408333999 rs562671037	160	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs145056868 CA9774558	160	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752213767 CA9774555	163	H>L		No	ClinGen ExAC gnomAD
rs752213767 CA9774556	163	H>P		No	ClinGen ExAC gnomAD
CA408333890 rs1174664787	167	E>G		No	ClinGen TOPMed gnomAD
CA408333888 rs1174664787	167	E>V		No	ClinGen TOPMed gnomAD
rs141177501 CA9774554	168	Y>C		No	ClinGen ESP ExAC gnomAD
COSM182130 rs1430521006 CA408333836	170	Q>R	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1193090244 CA408333818	171	D>V		No	ClinGen gnomAD
CA408333023 rs1242072592	173	S>N		No	ClinGen gnomAD
CA9774536 rs764792798	173	S>R		No	ClinGen ExAC TOPMed gnomAD
rs373259467 CA9774533	176	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs753501671 CA9774534	176	R>W		No	ClinGen ExAC gnomAD
CA408332939 rs1568590918	178	N>T		No	ClinGen Ensembl
CA312303391 rs369531337	179	T>A		No	ClinGen ESP TOPMed
TCGA novel	181	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767996285 CA9774528	182	M>I		No	ClinGen ExAC gnomAD
rs773669633 CA9774529	182	M>V		No	ClinGen ExAC TOPMed
CA9774527 rs762321613	184	G>C		No	ClinGen ExAC gnomAD
rs1016189430 CA312303358	184	G>D		No	ClinGen TOPMed
rs1382114770 CA408332884	185	G>V		No	ClinGen gnomAD
CA9774526 rs774777225	188	K>Q		No	ClinGen ExAC gnomAD
TCGA novel	189	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408332853 rs1350116173	189	S>R		No	ClinGen TOPMed
TCGA novel	195	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408332797 rs1408735967	197	V>G		No	ClinGen gnomAD
CA9774522 rs749367679	199	F>L		No	ClinGen ExAC gnomAD
CA9774521 rs775569763	201	G>R		No	ClinGen ExAC TOPMed
CA408332772 rs1600339525	202	V>I		No	ClinGen Ensembl
rs1438067837 CA408332737	205	V>I		No	ClinGen gnomAD
rs1349939628 CA408332727	206	D>G		No	ClinGen TOPMed gnomAD
rs747946291 CA9774496	207	D>G		No	ClinGen ExAC TOPMed
rs536752229 CA312302695	207	D>H		No	ClinGen 1000Genomes
rs145652755 CA9774492	211	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs755741863 CA9774491	212	E>A		No	ClinGen ExAC gnomAD
CA408332681 rs1427034923	212	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs750094863 CA9774490	213	K>E		No	ClinGen ExAC gnomAD
CA9774489 rs781031324	217	I>M		No	ClinGen ExAC gnomAD
rs895276778 CA312302654	217	I>N		No	ClinGen gnomAD
CA408332649 rs1488882701	217	I>V		No	ClinGen gnomAD
CA9774488 rs757620155	219	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs369193496 CA9774487	220	Y>C		No	ClinGen ESP ExAC gnomAD
rs763312847 CA9774485	221	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1285811074 CA408332607	223	I>F		No	ClinGen gnomAD
CA9774484 rs753263158	223	I>N		No	ClinGen ExAC TOPMed gnomAD
rs753263158 CA408332605	223	I>T		No	ClinGen ExAC TOPMed gnomAD
CA312302644 rs1003613074	227	C>S		No	ClinGen TOPMed gnomAD
CA408332578 rs1003613074	227	C>Y		No	ClinGen TOPMed gnomAD
CA9774483 rs765299262	229	K>N		No	ClinGen ExAC gnomAD
CA9774481 rs776814309	233	M>V		No	ClinGen ExAC TOPMed gnomAD
rs760983459 CA9774479	234	T>I		No	ClinGen ExAC gnomAD
rs760983459 CA9774480	234	T>S		No	ClinGen ExAC gnomAD
CA408332523 rs1403617338	235	R>I		No	ClinGen gnomAD
rs768508088 CA9774477	236	S>Y		No	ClinGen ExAC gnomAD
rs1201341354 CA408332507	238	K>Q		No	ClinGen TOPMed
CA9774458 rs775544916	239	N>I		No	ClinGen ExAC TOPMed gnomAD
CA9774457 rs775544916	239	N>S		No	ClinGen ExAC TOPMed gnomAD
rs775946902 CA9774454	240	V>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9774455 rs775946902	240	V>I		No	ClinGen ExAC TOPMed gnomAD
CA9774451 rs777524319	242	D>G		No	ClinGen ExAC gnomAD
CA9774452 rs746639789 COSM1615366	242	D>N	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs919703922 CA312295811	243	D>E		No	ClinGen Ensembl
rs1274696039 CA408332461	243	D>G		No	ClinGen gnomAD
CA9774449 rs146672356	244	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA312295778 rs963553925	245	I>V		No	ClinGen Ensembl
rs1568590075 CA408332444	246	H>D		No	ClinGen Ensembl
CA408332431 rs756281625	248	A>P		No	ClinGen ExAC gnomAD
CA9774445 rs756281625	248	A>S		No	ClinGen ExAC gnomAD
rs756281625 CA9774444 COSM477868	248	A>T	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs750577873 CA9774443	250	C>S		No	ClinGen ExAC TOPMed gnomAD
rs750577873 CA408332418	250	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs767828190 CA408332404	252	H>P		No	ClinGen ExAC TOPMed gnomAD
COSM723537 rs767828190 CA9774442	252	H>R	lung Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1568589996 CA408332392	254	L>V		No	ClinGen Ensembl
CA9774441 rs762147468	255	A>S		No	ClinGen ExAC gnomAD
CA312295743 rs199879416	257	E>Q		No	ClinGen 1000Genomes
rs1024912169 CA312295740	259	P>A		No	ClinGen TOPMed gnomAD
CA312295733 rs933765716	260	T>I		No	ClinGen TOPMed
CA312295732 rs1012239568	261	V>A		No	ClinGen Ensembl
CA408332340 rs1251939558	262	I>M		No	ClinGen gnomAD
CA9774436 rs770319083	262	I>N		No	ClinGen ExAC gnomAD
CA9774435 rs760284212	263	K>E		No	ClinGen ExAC gnomAD
CA312295726 rs959376180	263	K>T		No	ClinGen Ensembl
CA312294883 rs201254238	264	K>N		No	ClinGen 1000Genomes
CA408332329 rs1383204344	264	K>R		No	ClinGen TOPMed
rs1174952563 CA408332316	265	Y>H		No	ClinGen gnomAD
CA312294858 rs925334521	267	L>M		No	ClinGen TOPMed
rs1256410289 CA408332287	269	V>F		No	ClinGen TOPMed
TCGA novel	274	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9774387 rs147786677	278	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA9774386 rs768497425	279	V>I		No	ClinGen ExAC TOPMed gnomAD
rs762545436 CA9774385	280	E>D		No	ClinGen ExAC
CA408332204 rs1449657202	280	E>K		No	ClinGen gnomAD
CA9774384 rs201856245	281	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA408332196 rs201856245	281	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs746381456 CA9774382	282	R>*		No	ClinGen ExAC TOPMed gnomAD
rs746381456 CA408332192	282	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9774381 rs777316494	282	R>Q		No	ClinGen ExAC gnomAD
rs1034021590 CA312294655	286	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1034021590 CA408332167	286	D>V		No	ClinGen gnomAD
rs11542902 CA9774379	291	L>V		No	ClinGen ESP ExAC gnomAD
CA9774378 rs200592783	295	L>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	295	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM32371 rs758576026 CA9774377	296	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA408332103 rs1190962856 COSM1410559	296	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs749326525 CA9774376	297	Y>N		No	ClinGen ExAC TOPMed gnomAD
rs1450715208 CA408332089	298	Y>C		No	ClinGen gnomAD
CA9774374 COSM1733644 rs370183961	299	M>I	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1010214897 CA312294630	299	M>T		No	ClinGen Ensembl
CA9774375 rs779888972	299	M>V		No	ClinGen ExAC gnomAD
rs892756287 CA312294604	300	L>H		No	ClinGen TOPMed
CA9774372 rs767494545	301	N>D		No	ClinGen ExAC TOPMed gnomAD
rs751031852 CA9774371	301	N>I		No	ClinGen ExAC gnomAD
rs751031852 CA9774370	301	N>S		No	ClinGen ExAC gnomAD
rs377697187 CA312294596	302	I>V		No	ClinGen TOPMed
CA408332042 rs1473690617	306	K>E		No	ClinGen gnomAD
TCGA novel	307	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1366343069 CA408331604	308	L>F		No	ClinGen gnomAD
rs1366343069 CA408331608	308	L>I		No	ClinGen gnomAD
rs1272535976 CA408331599	308	L>P		No	ClinGen gnomAD
rs1366343069 CA408331606	308	L>V		No	ClinGen gnomAD
rs943128366 CA312293807	309	L>F		No	ClinGen Ensembl
CA9774352 rs777331458	309	L>S		No	ClinGen ExAC TOPMed gnomAD
rs1331254032 CA408331577	310	Y>H		No	ClinGen gnomAD
CA9774351 rs757885596	311	R>G		No	ClinGen ExAC gnomAD
rs376255348 CA9774350	312	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA408331535 rs764745399	312	R>H		No	ClinGen ExAC gnomAD
CA9774349 rs764745399	312	R>L		No	ClinGen ExAC gnomAD
CA408331514 rs1238028570	313	T>I		No	ClinGen TOPMed
rs754185526 CA9774347	315	A>S		No	ClinGen ExAC gnomAD
CA312293790 rs931574098	316	L>F		No	ClinGen Ensembl
CA408331469 rs1415935246	316	L>H		No	ClinGen TOPMed
rs1600334226 CA408331443	317	I>M		No	ClinGen Ensembl
CA9774345 rs761246039	317	I>T		No	ClinGen ExAC TOPMed gnomAD
CA408331432 rs1568588503	318	D>V		No	ClinGen Ensembl
CA408331408 rs1568588496	319	Y>*		No	ClinGen Ensembl
CA408331413 rs773664052	319	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA9774344 rs773664052	319	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs772163613 CA9774343	320	E>D		No	ClinGen ExAC gnomAD
rs1466559123 CA408331361	322	S>*		No	ClinGen gnomAD
CA312293770 rs918799378	325	A>S		No	ClinGen Ensembl
CA408331311 rs1203604800	325	A>V		No	ClinGen gnomAD
CA312293764 rs369908673	326	L>V		No	ClinGen TOPMed
CA312293760 rs912034125	327	D>G		No	ClinGen TOPMed gnomAD
rs774514947 CA9774341	328	K>E		No	ClinGen ExAC TOPMed gnomAD
CA312293742 rs984136576	329	A>T		No	ClinGen TOPMed
rs950977818 CA312293738	330	R>Q		No	ClinGen TOPMed gnomAD
rs768722799 CA9774340	330	R>W		No	ClinGen ExAC TOPMed gnomAD
CA312293735 rs371601931	333	S>C		No	ClinGen ESP gnomAD
rs116425682 CA9774337	336	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs369543726 CA9774336	337	K>R		No	ClinGen ESP ExAC gnomAD
CA408331157 rs369543726	337	K>T		No	ClinGen ESP ExAC gnomAD
CA9774335 rs777619898	341	A>E		No	ClinGen ExAC gnomAD
CA408331095 rs777619898	341	A>V		No	ClinGen ExAC gnomAD
rs575775461 CA9774334	342	H>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1279236186 CA408331087	343	Q>K		No	ClinGen TOPMed
CA408331075 rs994789511	344	Q>L		No	ClinGen TOPMed gnomAD
CA312293717 rs994789511	344	Q>R		No	ClinGen TOPMed gnomAD
CA408331056 rs1207947801	347	C>S		No	ClinGen TOPMed
CA9774333 rs557200574	348	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
rs748179170 CA312293682	352	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs539118133 CA9774331	353	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs766842736 CA9774329	354	S>C		No	ClinGen ExAC gnomAD
rs766842736 CA9774330	354	S>F		No	ClinGen ExAC gnomAD
CA9774327 rs139196479 COSM3423518	355	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA9774326 rs767866368	356	S>A		No	ClinGen ExAC gnomAD
CA408330988 rs1014269336	357	A>S		No	ClinGen TOPMed gnomAD
rs1014269336 CA312293635	357	A>T		No	ClinGen TOPMed gnomAD
CA408330975 rs1389101703	359	E>K		No	ClinGen gnomAD
CA9774307 rs752166913	362	I>V		No	ClinGen ExAC gnomAD
CA312290207 rs899691950	363	N>D		No	ClinGen TOPMed gnomAD
CA408330937 rs899691950	363	N>H		No	ClinGen TOPMed gnomAD
rs376369085 CA9774305	366	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA9774306 rs150810533	366	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1456539681 CA408330905	367	K>N		No	ClinGen gnomAD
rs1352015839 CA408330901	368	R>K		No	ClinGen gnomAD
CA408330893 rs1213057977	369	V>A		No	ClinGen TOPMed gnomAD
CA312290205 rs926801905	369	V>M		No	ClinGen TOPMed gnomAD
rs759807895 CA9774302	371	A>G		No	ClinGen ExAC gnomAD
rs765401451 CA9774303	371	A>T		No	ClinGen ExAC gnomAD
rs963224770 CA312290199	373	R>*		No	ClinGen Ensembl
rs772822159 CA9774301	374	K>N		No	ClinGen ExAC gnomAD
CA9774300 rs771957175	377	I>T		No	ClinGen ExAC TOPMed gnomAD
CA408330846 rs1250585416	377	I>V		No	ClinGen gnomAD
rs1207692038 CA408330827	379	M>I		No	ClinGen TOPMed
rs368439202 CA9774298	383	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	387	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA312290128 rs919586287	388	R>K		No	ClinGen TOPMed
rs565150872 CA9774266	390	N>K		No	ClinGen 1000Genomes ExAC gnomAD
rs758844519 CA312289454	390	N>S		No	ClinGen ExAC gnomAD
rs758844519 CA9774267	390	N>T		No	ClinGen ExAC gnomAD
CA408330728 rs1255467063	392	S>C		No	ClinGen gnomAD
CA408330724 rs1198629369	393	L>F		No	ClinGen TOPMed gnomAD
rs1484305155 CA408330713	395	Q>*		No	ClinGen gnomAD
CA312289427 rs746546895	395	Q>H		No	ClinGen Ensembl
rs1281066272 CA408330699	396	S>R		No	ClinGen gnomAD
CA9774264 rs755121199	397	C>R		No	ClinGen ExAC gnomAD
rs1424987446 CA408330677	399	D>E		No	ClinGen TOPMed
CA408330683 rs1340221518	399	D>H		No	ClinGen gnomAD
rs1300279115 CA408330668	401	F>L		No	ClinGen gnomAD
rs753981963 CA9774263	401	F>L		No	ClinGen ExAC gnomAD
CA9774262 rs766577881	402	K>N		No	ClinGen ExAC gnomAD
rs760842315 CA9774261	403	N>Y		No	ClinGen ExAC gnomAD

No associated diseases with Q9Y5X3

4 regional properties for Q9Y5X3

Type	Name	Position	InterPro Accession
domain	Phox homology	25 - 172	IPR001683
domain	Sorting nexin/Vps5-like, C-terminal	180 - 391	IPR015404
domain	Sorting nexin-5, BAR domain	185 - 402	IPR028654
domain	SNX5, PX domain	29 - 169	IPR042135

Functions

		Description
EC Number
Subcellular Localization	Endosome Early endosome Early endosome membrane ; Peripheral membrane protein; Cytoplasmic side Cell membrane ; Peripheral membrane protein; Cytoplasmic side Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side Cytoplasm Cell projection, phagocytic cup Cell projection, ruffle	Recruited to the plasma membrane after EGF stimulation, which leads to increased levels of phosphatidylinositol 3,4-bisphosphate (PdtIns(3,4)P2) (PubMed:15561769) Detected on macropinosomes (PubMed:16968745, PubMed:21048941) Targeted to membrane ruffles in response to EGFR stimulation
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

13 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
early endosome membrane	The lipid bilayer surrounding an early endosome.
endosome	A vacuole to which materials ingested by endocytosis are delivered.
extrinsic component of cytoplasmic side of plasma membrane	The component of a plasma membrane consisting of gene products and protein complexes that are loosely bound to its cytoplasmic surface, but not integrated into the hydrophobic region.
extrinsic component of endosome membrane	The component of an endosome membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
macropinocytic cup	A cell projection that forms at the site of macropinocytosis, a form of endocytosis that results in the uptake of relatively large amounts of extracellular fluid. The macropinocytic cup membrane selectively excludes certain proteins, such as H36 or PM4C4 in Dictyostelium, and the underlying cytoskeleton is enriched in F-actin and coronin.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
phagocytic cup	An invagination of the cell membrane formed by an actin dependent process during phagocytosis. Following internalization it is converted into a phagosome.
retromer complex	A conserved hetero-pentameric membrane-associated complex involved in retrograde transport from endosomes to the Golgi apparatus. The budding yeast retromer comprises Vps35p, Vps29p, Vps26p, Vps5p, and Vps17p. The mammalian complex shows slight variation in composition compared to yeast, and comprises SNX1 or SNX2, SNX5 or SNX6, VPS26A or VPS26B, VPS29, and VPS35.
retromer, tubulation complex	The dimeric subcomplex of the retromer, believed to be peripherally associated with the membrane. This dimeric complex is responsible for remodelling endosomal membranes to form a tube-structure to which cargo molecules are selected for recycling. The budding yeast complex comprises Vps5p and Vps17p, and may contain multiple copies of a Vps5p/Vps17p dimer. The mammalian complex contains SNX1 or SNX2 dimerized with SNX5 or SNX6.
ruffle	Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork.
tubular endosome	A network of fine tubules in the vicinity of the Golgi complex and around the centriole.

3 GO annotations of molecular function

Name	Definition
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.
dynactin binding	Binding to a dynactin complex; a large protein complex that activates dynein-based motor activity.
phosphatidylinositol binding	Binding to an inositol-containing glycerophospholipid, i.e. phosphatidylinositol (PtdIns) and its phosphorylated derivatives.

6 GO annotations of biological process

Name	Definition
intracellular protein transport	The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell.
pinocytosis	An endocytosis process that results in the uptake of liquid material by cells from their external environment; literally 'cell drinking'. Liquid is enclosed in vesicles, called pinosomes, formed by invagination of the plasma membrane.
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 insulin receptor signaling pathway	Any process that increases the frequency, rate or extent of insulin receptor signaling.
regulation of macroautophagy	Any process that modulates the frequency, rate or extent of macroautophagy.
retrograde transport, endosome to Golgi	The directed movement of membrane-bounded vesicles from endosomes back to the trans-Golgi network where they are recycled for further rounds of transport.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3ZBM5	SNX5	Sorting nexin-5	Bos taurus (Bovine)	PR
O60749	SNX2	Sorting nexin-2	Homo sapiens (Human)	PR
Q13596	SNX1	Sorting nexin-1	Homo sapiens (Human)	PR
Q9CWK8	Snx2	Sorting nexin-2	Mus musculus (Mouse)	PR
Q99N27	Snx1	Sorting nexin-1	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MAAVPELLQQ	QEEDRSKLRS	VSVDLNVDPS	LQIDIPDALS	ERDKVKFTVH	TKTTLPTFQS
70	80	90	100	110	120
PEFSVTRQHE	DFVWLHDTLI	ETTDYAGLII	PPAPTKPDFD	GPREKMQKLG	EGEGSMTKEE
130	140	150	160	170	180
FAKMKQELEA	EYLAVFKKTV	SSHEVFLQRL	SSHPVLSKDR	NFHVFLEYDQ	DLSVRRKNTK
190	200	210	220	230	240
EMFGGFFKSV	VKSADEVLFT	GVKEVDDFFE	QEKNFLINYY	NRIKDSCVKA	DKMTRSHKNV
250	260	270	280	290	300
ADDYIHTAAC	LHSLALEEPT	VIKKYLLKVA	ELFEKLRKVE	GRVSSDEDLK	LTELLRYYML
310	320	330	340	350	360
NIEAAKDLLY	RRTKALIDYE	NSNKALDKAR	LKSKDVKLAE	AHQQECCQKF	EQLSESAKEE
370	380	390	400
LINFKRKRVA	AFRKNLIEMS	ELEIKHARNN	VSLLQSCIDL	FKNN