AiPD: Autoinhibited Protein Database

Q9Y5X1

Gene name	SNX9 (SH3PX1, SH3PXD3A)
Protein name	Sorting nexin-9
Names	SH3 and PX domain-containing protein 1, Protein SDP1, SH3 and PX domain-containing protein 3A
Species	Homo sapiens (Human)
KEGG Pathway	hsa:51429
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

35-271 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

35-271 (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

8 structures for Q9Y5X1

Entry ID	Method	Resolution	Chain	Position	Source
2RAI	X-ray	320 A	A/B	204-595	PDB
2RAJ	X-ray	245 A	A	204-595	PDB
2RAK	X-ray	300 A	A	204-595	PDB
3DYT	X-ray	208 A	A	230-595	PDB
3DYU	X-ray	410 A	A/B/C	230-595	PDB
3LGE	X-ray	220 A	E/F/G/H	152-182	PDB
7OJ9	NMR	-	A	1-64	PDB
AF-Q9Y5X1-F1	Predicted				AlphaFoldDB

382 variants for Q9Y5X1

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA366425565 rs1228757397	2	A>T		No	ClinGen TOPMed
CA366425569 rs1355623831	2	A>V		No	ClinGen TOPMed
CA150890555 rs947359518	3	T>S		No	ClinGen TOPMed gnomAD
rs1267083721 CA366230845	6	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4068736 rs151265155	6	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA366230863 rs1583207550	7	V>G		No	ClinGen Ensembl
rs771427109 CA4068738	8	M>I		No	ClinGen ExAC TOPMed gnomAD
rs747860327 CA4068737	8	M>T		No	ClinGen ExAC gnomAD
rs1191149923 CA366230867	8	M>V		No	ClinGen gnomAD
CA366230926 TCGA novel rs1209543987	11	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed NCI-TCGA
CA4068739 rs772853467	12	A>P		No	ClinGen ExAC gnomAD
CA366230938 rs1165197348	12	A>V		No	ClinGen gnomAD
CA366230968 rs1241705090	14	E>K		No	ClinGen TOPMed gnomAD
CA366230962 rs1241705090	14	E>Q		No	ClinGen TOPMed gnomAD
rs771054109 CA4068741	14	E>V		No	ClinGen ExAC gnomAD
rs1475867742 CA366230985	15	P>A		No	ClinGen gnomAD
rs1292775577 CA366230990	15	P>L		No	ClinGen gnomAD
CA4068743 rs140516788	21	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA4068742 rs776548092	21	T>S		No	ClinGen ExAC TOPMed gnomAD
CA366231075 rs1379874565	22	V>I		No	ClinGen TOPMed
TCGA novel	24	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1321940333 CA366231103	24	E>K		No	ClinGen TOPMed
rs75587153 CA4068745	28	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA150400408 rs751650378	30	I>V		No	ClinGen Ensembl
rs145589455	33	P>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA4068747 rs752074718	33	P>L		No	ClinGen TOPMed
CA366231684 rs1583210921	34	D>G		No	ClinGen Ensembl
rs1359629633 CA366231702	35	V>L		No	ClinGen gnomAD
rs750874108 CA4068785	36	G>C		No	ClinGen ExAC gnomAD
rs750874108 CA366231716	36	G>S		No	ClinGen ExAC gnomAD
CA366231849 rs1314630440	46	K>E		No	ClinGen gnomAD
rs148879451 CA4068787	49	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA366231883 rs754286836	49	R>L		No	ClinGen ExAC TOPMed gnomAD
CA4068788 rs754286836	49	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA150404932 rs369135924	52	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA4068791 rs369135924	52	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA4068793 rs780851314	54	T>S		No	ClinGen ExAC gnomAD
rs557822765 CA4068794	57	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA366232008 rs557822765	57	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4068812 rs780832931	59	I>M		No	ClinGen ExAC gnomAD
TCGA novel	62	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4068814 rs749995079	63	D>H		No	ClinGen ExAC gnomAD
CA4068813 rs749995079	63	D>N		No	ClinGen ExAC gnomAD
CA366232536 rs1207090413	64	G>A		No	ClinGen TOPMed
CA366232553 rs1325998430	66	D>H		No	ClinGen gnomAD
rs749203434 CA4068816	67	Q>E		No	ClinGen ExAC gnomAD
rs1436472138 CA366232584	67	Q>L		No	ClinGen TOPMed gnomAD
rs1436472138 CA366232583	67	Q>R		No	ClinGen TOPMed gnomAD
CA366232610 rs1212666086	69	S>P		No	ClinGen TOPMed
TCGA novel	69	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748366807 CA4068819	73	S>A		No	ClinGen ExAC gnomAD
CA366232687 rs1335131096	74	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs772340065 CA4068820	75	A>T		No	ClinGen ExAC gnomAD
rs1274871589 CA366232704	76	D>Y		No	ClinGen TOPMed
rs376191609 CA150406321	77	Q>E		No	ClinGen ESP TOPMed
CA366232754 rs1193818511	80	L>F		No	ClinGen gnomAD
rs1309446686 CA366232769	81	D>E		No	ClinGen TOPMed
rs1018349422 CA150406325	81	D>G		No	ClinGen TOPMed gnomAD
rs778212801 CA150406328	82	S>P		No	ClinGen gnomAD
rs773144429 CA4068821	83	L>P		No	ClinGen ExAC gnomAD
rs1327445873 CA366232803	85	A>D		No	ClinGen TOPMed
CA4068822 rs138147365	85	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA366232814 rs1416602162	86	S>I		No	ClinGen TOPMed
CA4068823 rs770951001	86	S>R		No	ClinGen ExAC TOPMed gnomAD
CA4068824 rs777149323	87	T>A		No	ClinGen ExAC gnomAD
CA150406348 rs17849900	89	Q>H		No	ClinGen Ensembl
rs760135782 CA4068825	89	Q>R		No	ClinGen ExAC gnomAD
CA366232867 rs1405065560	91	S>C		No	ClinGen gnomAD
CA366232865 rs1405065560	91	S>G		No	ClinGen gnomAD
CA366232871 rs1175843648	91	S>N		No	ClinGen TOPMed
rs140767756 CA4068827	92	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140767756 CA366232886	92	S>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4068829 rs374744867	93	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4068831 rs755599906	95	A>V		No	ClinGen ExAC gnomAD
CA366232919 rs1583211922	96	S>R		No	ClinGen Ensembl
rs200349768 CA4068832	97	N>S		No	ClinGen ExAC gnomAD
CA366232957 TCGA novel rs1583211929	98	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
rs753744736 CA4068833	99	H>R		No	ClinGen ExAC gnomAD
CA366224600 rs1284029665	101	V>I		No	ClinGen Ensembl
CA4068857 rs144624939	102	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	103	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366224621 rs1363209877	103	S>R		No	ClinGen gnomAD
CA366224624 rs765199294	104	G>C		No	ClinGen ExAC gnomAD
CA4068858 rs765199294	104	G>S		No	ClinGen ExAC gnomAD
CA4068859 rs562470020	105	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs529778152 CA4068861	106	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA150387493 rs902999960	108	W>*		No	ClinGen TOPMed
rs747191157 CA4068862	108	W>L		No	ClinGen ExAC gnomAD
rs757476123 CA4068863	110	A>P		No	ClinGen ExAC gnomAD
CA366224698 rs1332891647	110	A>V		No	ClinGen gnomAD
rs960668533 CA150387504	112	S>I		No	ClinGen Ensembl
CA4068864 rs781305781	113	A>G		No	ClinGen ExAC gnomAD
CA150387513 rs781305781	113	A>V		No	ClinGen ExAC gnomAD
rs61736723 CA4068865	118	N>H		No	ClinGen ExAC TOPMed gnomAD
CA366224793 rs1313926905	118	N>K		No	ClinGen gnomAD
CA4068866 rs770024757	120	E>G		No	ClinGen ExAC TOPMed gnomAD
CA366224843 rs1254407048	122	S>P		No	ClinGen gnomAD
rs749825009 CA4068868	125	W>*		No	ClinGen ExAC gnomAD
CA4068867 rs370786059	125	W>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs768996507 CA366224907	126	G>R		No	ClinGen ExAC TOPMed gnomAD
rs768996507 CA4068869	126	G>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	127	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366224916 rs1456734061	127	A>T		No	ClinGen gnomAD
CA366224927 rs1178466406	127	A>V		No	ClinGen gnomAD
CA366224937 rs1583223767	128	Q>P		No	ClinGen Ensembl
rs774646534 CA4068870	129	P>A		No	ClinGen ExAC gnomAD
CA366224966 rs1435492463	129	P>L		No	ClinGen gnomAD
rs760364065 CA4068871	130	E>A		No	ClinGen ExAC gnomAD
rs770539783 CA4068874 CA4068873	130	E>D		No	ClinGen ExAC TOPMed gnomAD
rs764753788 CA4068875	131	G>E		No	ClinGen ExAC gnomAD
TCGA novel	137	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762805702 CA4068877	138	T>I		No	ClinGen ExAC gnomAD
rs763932830 CA4068878	142	N>K		No	ClinGen ExAC TOPMed gnomAD
rs751357882 CA4068879	143	N>K		No	ClinGen ExAC gnomAD
rs757900618 CA4068881	144	W>C		No	ClinGen ExAC gnomAD
rs757466461 CA4068880	144	W>G		No	ClinGen ExAC gnomAD
rs202195603 CA4068883	145	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA366225272 rs1316337909	146	T>A		No	ClinGen gnomAD
rs995759900 CA150387639	146	T>I		No	ClinGen Ensembl
CA4068886 rs367765060	149	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA366225399 rs1562609275	150	H>L		No	ClinGen Ensembl
CA366225383 rs1267228439	150	H>Y		No	ClinGen gnomAD
rs772518708 CA4068889	151	P>A		No	ClinGen ExAC gnomAD
rs772518708 CA4068890	151	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA366225456 rs1328713034	153	A>T		No	ClinGen gnomAD
rs769229031 CA4068892	155	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA150387718 rs769229031	155	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs575249431 CA150387735	157	P>L		No	ClinGen Ensembl
CA366226220 rs1483346401	159	T>I		No	ClinGen TOPMed gnomAD
rs774097555 CA4068921	160	G>R		No	ClinGen ExAC gnomAD
rs1398107779 CA366226236	161	D>V		No	ClinGen TOPMed
CA4068922 rs377290096	162	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA366226250 rs1583226681	163	D>Y		No	ClinGen Ensembl
rs767413446 CA4068923	166	D>V		No	ClinGen ExAC gnomAD
TCGA novel	168	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4068925 rs760959192	170	D>N		No	ClinGen ExAC gnomAD
TCGA novel	173	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366226365 rs766749967	174	S>C		No	ClinGen ExAC gnomAD
rs766749967 CA4068926	174	S>F		No	ClinGen ExAC gnomAD
CA4068928 rs186212763	179	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000973092 CA4068929 rs61748681	180	D>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs753081993 CA4068930	182	E>Q		No	ClinGen ExAC gnomAD
CA366226453 rs1180910946	184	A>T		No	ClinGen gnomAD
CA4068931 rs758975444	185	D>V		No	ClinGen ExAC gnomAD
rs778100862 CA4068932	187	G>V		No	ClinGen ExAC gnomAD
CA4068933 rs372541232	188	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA366226482 rs200128498	189	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4068935 rs200128498	189	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA366226486 rs1443888375	189	A>V		No	ClinGen TOPMed
CA366226491 rs1258185725	190	Q>R		No	ClinGen TOPMed
rs748983226 CA4068936	191	R>*		No	ClinGen ExAC gnomAD
CA4068937 rs767982992	191	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4068938 rs201265199	192	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748021775 CA4068939	194	S>G		No	ClinGen ExAC gnomAD
CA4068940 rs138687825	195	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA366226521 rs138687825	195	R>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1167701148 CA366226526	196	A>D		No	ClinGen gnomAD
rs924149245 CA150392228	197	S>G		No	ClinGen TOPMed gnomAD
CA4068941 rs150874936	197	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs886177275 CA150392235	198	S>Y		No	ClinGen Ensembl
rs1280201991 CA366226554	201	M>K		No	ClinGen gnomAD
CA150392236 rs1004561485	201	M>V		No	ClinGen TOPMed gnomAD
CA366226586 rs1309876341	205	L>R		No	ClinGen gnomAD
rs1277371289 CA366226599	207	K>R		No	ClinGen TOPMed
CA150396060 rs759352816	212	A>G		No	ClinGen TOPMed gnomAD
CA366227485 rs1562612985	212	A>S		No	ClinGen Ensembl
rs759352816 CA150396064	212	A>V		No	ClinGen TOPMed gnomAD
rs946597361 CA150396079	213	K>N		No	ClinGen Ensembl
CA366227560 rs1278155358	215	G>V		No	ClinGen TOPMed gnomAD
CA4068960 rs374842203	216	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA366227682 rs1168805799	221	L>W		No	ClinGen TOPMed
CA150396117 rs868156648	224	Q>E		No	ClinGen Ensembl
rs1244868371 CA366227748	225	L>P		No	ClinGen gnomAD
rs759668076 CA4068962	230	E>G		No	ClinGen ExAC gnomAD
rs770107167 CA4068964	233	P>A		No	ClinGen ExAC gnomAD
CA4068965 rs775603272	234	I>V		No	ClinGen ExAC TOPMed gnomAD
CA4068981 rs745633109	236	V>A		No	ClinGen ExAC gnomAD
rs186701810 CA150399431	237	G>R		No	ClinGen 1000Genomes
CA366228901 rs1317225770	240	G>D		No	ClinGen gnomAD
CA4068982 rs370720997	242	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs775629099 CA4068983	245	Y>F		No	ClinGen ExAC gnomAD
CA366228978 rs1358390484	248	S>C		No	ClinGen gnomAD
rs1381852065 CA366229028	254	V>I		No	ClinGen gnomAD
rs1355978734 CA366229109	262	K>T		No	ClinGen gnomAD
rs377346954 CA4068990	270	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs370427895 CA4068991	271	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1157525224 CA366229242	275	T>S		No	ClinGen gnomAD
rs758195548 CA4068993	276	P>A		No	ClinGen ExAC gnomAD
CA366229249 rs758195548	276	P>S		No	ClinGen ExAC gnomAD
rs1260458744 CA366229287	279	T>S		No	ClinGen gnomAD
CA366229294 rs1562614634	280	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs144603280 CA4069017	281	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA4069018 rs144693196	282	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	286	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4069019 rs760773451	291	D>V		No	ClinGen ExAC gnomAD
CA366229472 rs1427985519	296	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4069020 rs754797629	296	R>H		No	ClinGen ExAC gnomAD
CA366229512 rs1172306025	300	K>R		No	ClinGen TOPMed gnomAD
CA366229571 rs1468185311	305	I>V		No	ClinGen TOPMed
CA4069021 rs779059340	306	P>L		No	ClinGen ExAC TOPMed gnomAD
rs888746074 CA150399732	307	I>L		No	ClinGen TOPMed
rs148533165 CA150399747	316	T>A		No	ClinGen ESP TOPMed
CA4069024 rs773234322	316	T>I		No	ClinGen ExAC gnomAD
CA4069044 rs747102123	318	R>H		No	ClinGen ExAC gnomAD
CA366231610 rs1258026941	320	E>G		No	ClinGen gnomAD
rs1182071452 CA366231606	320	E>K		No	ClinGen gnomAD
CA366231620 rs763197001	321	E>D		No	ClinGen TOPMed gnomAD
CA150893479 rs965498052	321	E>K		No	ClinGen Ensembl
CA4069045 rs771170543	324	I>V		No	ClinGen ExAC gnomAD
rs781739514 CA4069046	325	K>R		No	ClinGen ExAC gnomAD
CA366231657 rs1421411783	326	M>T		No	ClinGen gnomAD
rs746378824 CA4069047	327	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4069048 rs770275405	327	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA366231678 rs1205768444	328	M>I		No	ClinGen TOPMed
TCGA novel	332	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1303579106 CA366231726	332	Q>R		No	ClinGen gnomAD
CA150893507 rs914910907	338	M>I		No	ClinGen Ensembl
CA366231809 rs1252752533	338	M>L		No	ClinGen TOPMed gnomAD
rs775773253 CA4069049	340	R>C		No	ClinGen ExAC TOPMed gnomAD
rs151064442 CA4069050	340	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA4069053 rs771661954	343	V>A		No	ClinGen ExAC TOPMed gnomAD
CA366231912 rs1222573557	345	S>P		No	ClinGen Ensembl
rs1281594338 CA366231946	347	S>R		No	ClinGen TOPMed gnomAD
rs772948669 CA4069054	348	E>K		No	ClinGen ExAC gnomAD
rs1003811021 CA150893555	349	V>L		No	ClinGen TOPMed
rs376227112 CA4069056	350	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA366232019 rs1459683242	353	F>C		No	ClinGen gnomAD
rs765887047 CA4069057	357	R>*		No	ClinGen ExAC gnomAD
rs760092132 CA150893585	357	R>Q		No	ClinGen gnomAD
CA366233224 rs140326668	361	E>D		No	ClinGen ESP TOPMed gnomAD
CA366233242 rs1191890858	362	W>*		No	ClinGen gnomAD
rs1431540916 CA366233267	364	T>S		No	ClinGen gnomAD
CA366233285 rs1388304205	365	G>A		No	ClinGen TOPMed
rs373994572 CA4069073	370	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA4069075 rs770425010	372	D>E		No	ClinGen ExAC gnomAD
rs760326433 CA4069074	372	D>G		No	ClinGen ExAC TOPMed gnomAD
rs376673240 CA4069077	375	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA366233464 rs1583242378	377	V>G		No	ClinGen Ensembl
rs1222527263 CA366233459	377	V>I		No	ClinGen gnomAD
CA4069079 rs775531698	379	I>M		No	ClinGen ExAC gnomAD
rs1278386278 CA366233484	379	I>V		No	ClinGen TOPMed gnomAD
rs369895280 CA4069080	383	M>L		No	ClinGen ESP ExAC gnomAD
rs369895280 CA4069081	383	M>V		No	ClinGen ESP ExAC gnomAD
rs757607330 CA366233565	384	E>D		No	ClinGen ExAC TOPMed gnomAD
rs751823191 CA4069082	384	E>K		No	ClinGen ExAC gnomAD
rs767680839 CA4069084	388	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1196751538 CA366233598	389	D>V		No	ClinGen TOPMed
rs1489861306 CA366233615 CA366233616	391	D>E		No	ClinGen TOPMed gnomAD
rs1232419707 CA366233625	393	V>L		No	ClinGen TOPMed
TCGA novel	393	V>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1329282191 CA366233632	394	E>K		No	ClinGen TOPMed
TCGA novel	398	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA150900041 rs980415058	400	E>K		No	ClinGen gnomAD
CA366233695 rs980415058	400	E>Q		No	ClinGen gnomAD
rs1317118845 CA366233723	404	K>R		No	ClinGen gnomAD
CA366233735 rs1340879699	406	T>P		No	ClinGen gnomAD
CA366233746 rs1286781640	407	K>M		No	ClinGen Ensembl
rs1414823131 CA366233758	409	M>K		No	ClinGen gnomAD
CA4069108 rs533381984	412	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1222345392 CA366233789	413	V>A		No	ClinGen TOPMed
CA366233785 rs1352842553	413	V>M		No	ClinGen TOPMed gnomAD
rs755567794 CA4069109	415	E>D		No	ClinGen ExAC gnomAD
CA366233800 rs1203641129	415	E>Q		No	ClinGen gnomAD
rs151179291 CA4069110	418	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA366233830 rs1179750911	420	G>E		No	ClinGen TOPMed gnomAD
rs1583243352 CA366233845	422	E>G		No	ClinGen Ensembl
rs769178676 CA4069115	423	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA366233864 rs1402531712	424	W>C		No	ClinGen gnomAD
TCGA novel	426	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366233876 rs1470749346	426	R>H		No	ClinGen gnomAD
CA366233881 rs1458596214	427	C>R		No	ClinGen TOPMed
CA366233882 rs1334510021	427	C>Y		No	ClinGen TOPMed gnomAD
rs775120084 CA4069116	428	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1458098893 CA366234534	430	P>L		No	ClinGen TOPMed
CA366233899 rs1309005488	430	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA150902379 rs377402525	432	P>H		No	ClinGen ESP
CA4069140 rs146513520	435	Y>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA366234794 rs1256110267	438	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA150902384 rs747645817	438	I>V		No	ClinGen Ensembl
rs141146899 CA4069141	440	K>R		No	ClinGen ESP ExAC gnomAD
TCGA novel	446	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4069144 rs759618341	447	T>A		No	ClinGen ExAC gnomAD
CA4069145 rs537979505	447	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA366235058 rs1227381270	448	V>A		No	ClinGen gnomAD
CA366235059 rs1227381270	448	V>G		No	ClinGen gnomAD
rs753140572 CA4069146	450	S>G		No	ClinGen ExAC TOPMed gnomAD
rs753140572 CA366235083	450	S>R		No	ClinGen ExAC TOPMed gnomAD
CA4069147 rs763522184	450	S>T		No	ClinGen ExAC gnomAD
rs1290387572 CA366235109	451	S>T		No	ClinGen gnomAD
rs1034575812 CA150902433	452	S>R		No	ClinGen TOPMed
CA4069149 rs150087476	452	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1428920870 CA366235160	453	G>V		No	ClinGen gnomAD
rs757587297 CA4069150	454	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA366235951 rs1248909278	457	E>K		No	ClinGen TOPMed
rs1244741793 CA366235968	458	T>A		No	ClinGen TOPMed gnomAD
CA4069169 rs200966585	461	N>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4069171 rs753516176	461	N>K		No	ClinGen ExAC gnomAD
CA4069170 rs187768612	461	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1419698126 CA366236037	464	I>V		No	ClinGen gnomAD
rs754745331 CA4069172	467	A>V		No	ClinGen ExAC gnomAD
rs764808310 CA4069173	468	G>E		No	ClinGen ExAC gnomAD
rs1297160235 CA366236104	471	Y>H		No	ClinGen TOPMed
rs758003397 CA4069175	472	E>K		No	ClinGen ExAC gnomAD
rs199568656 CA4069176	473	E>A		No	ClinGen ExAC TOPMed gnomAD
CA4069178 rs746922093	478	V>M		No	ClinGen ExAC gnomAD
CA366236191 rs1268168994	479	A>T		No	ClinGen Ensembl
rs1309242733 CA366236797	483	K>R		No	ClinGen gnomAD
rs958538066 CA150905745	486	L>H		No	ClinGen TOPMed gnomAD
TCGA novel	486	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757911915 CA4069196	487	H>L		No	ClinGen ExAC gnomAD
rs1482748571 CA366236849	487	H>Y		No	ClinGen TOPMed gnomAD
rs747192131 CA4069197	490	M>I	Variant assessed as Somatic; 9.242e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1562625257 CA366236885	490	M>L		No	ClinGen Ensembl
rs1247700312 CA366236907	491	E>A		No	ClinGen gnomAD
CA366236914 rs1479561797	492	C>R		No	ClinGen gnomAD
rs1412145319 CA366236958	495	E>K		No	ClinGen gnomAD
TCGA novel	500	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749527723 CA150905753	501	G>D		No	ClinGen TOPMed
rs749527723 CA366237040	501	G>V		No	ClinGen TOPMed
CA366237108 rs1452483673	505	D>G		No	ClinGen gnomAD
CA4069200 rs367901061	506	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA4069201 rs745617840	507	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1221246859 CA366237217	511	K>R		No	ClinGen TOPMed
TCGA novel	512	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148825841 CA366237427	513	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4069223 rs148825841	513	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	514	I>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779027697 CA4069225	514	I>M		No	ClinGen ExAC gnomAD
CA4069224 rs755195875	514	I>T		No	ClinGen ExAC TOPMed gnomAD
rs748127955 CA4069226	516	K>E		No	ClinGen ExAC gnomAD
CA4069227 rs772222795	519	E>Q		No	ClinGen ExAC gnomAD
CA150906548 rs1045746517	521	D>E		No	ClinGen TOPMed gnomAD
CA366237570 rs1583249811	522	K>R		No	ClinGen Ensembl
rs746580173 CA4069229	524	V>L		No	ClinGen ExAC gnomAD
CA366237693 rs1267700153	530	T>I		No	ClinGen gnomAD
rs762632165 CA4069232	531	L>P		No	ClinGen ExAC gnomAD
rs777198032 CA4069231	531	L>V		No	ClinGen ExAC gnomAD
rs924688301 CA150906598	532	Q>E		No	ClinGen TOPMed
rs768148493 CA4069233	532	Q>R		No	ClinGen ExAC gnomAD
CA150906622 rs934767952	534	K>E		No	ClinGen TOPMed gnomAD
rs761163759 CA4069235	537	M>V		No	ClinGen ExAC gnomAD
rs1249655330 CA366237818	538	V>L		No	ClinGen gnomAD
CA150906627 rs866093986	539	K>N		No	ClinGen Ensembl
CA366238001 rs1454518837	547	A>T		No	ClinGen gnomAD
rs143472781 CA4069237	547	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1429100239 CA366238039	549	Q>R		No	ClinGen TOPMed
CA4069262 rs776661780	553	N>D		No	ClinGen ExAC gnomAD
CA4069263 rs759185090	553	N>T		No	ClinGen ExAC gnomAD
CA150908484 rs940968913	554	H>D		No	ClinGen TOPMed gnomAD
rs765093538 CA4069264	556	H>R		No	ClinGen ExAC gnomAD
CA4069265 rs752847043	557	S>N		No	ClinGen ExAC TOPMed gnomAD
rs758757406 CA366238960	559	R>G		No	ClinGen ExAC gnomAD
CA366238963 rs1439997039	559	R>Q		No	ClinGen TOPMed
rs758757406 CA4069266	559	R>W		No	ClinGen ExAC gnomAD
rs1440029263 CA366238990	561	Y>C		No	ClinGen TOPMed gnomAD
CA4069268 rs377341402	561	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs757447215 CA4069270	568	R>C		No	ClinGen ExAC TOPMed gnomAD
rs781738814 CA4069271	568	R>H		No	ClinGen ExAC TOPMed gnomAD
CA4069273 rs756424949	570	Y>F		No	ClinGen ExAC gnomAD
rs746402053 CA4069272	570	Y>N		No	ClinGen ExAC gnomAD
rs780535779 CA4069274	572	E>K		No	ClinGen ExAC TOPMed gnomAD
rs747726891 CA4069275	573	Q>R		No	ClinGen ExAC
CA366239114 rs1453063431	577	F>L		No	ClinGen TOPMed
rs772874745 CA4069277	579	E>K		No	ClinGen ExAC TOPMed gnomAD
rs199569684 CA4069278	580	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	581	I>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4069302 rs745759515	581	I>F		No	ClinGen ExAC gnomAD
CA150909866 rs778279743	581	I>T		No	ClinGen TOPMed gnomAD
CA150909868 rs867614326	586	R>K		No	ClinGen Ensembl
CA366239311 rs1162745738	588	A>T		No	ClinGen gnomAD
CA4069304 rs775309036	588	A>V		No	ClinGen ExAC gnomAD
CA366239319 rs762774196	589	L>F		No	ClinGen ExAC gnomAD
CA4069305 rs762774196	589	L>V		No	ClinGen ExAC gnomAD
CA4069306 rs768590310	590	S>I		No	ClinGen ExAC gnomAD
CA366239344 rs1386823216	590	S>R		No	ClinGen gnomAD
rs148012710 CA4069307	591	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs148012710 CA4069308	591	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs139632031 CA4069309	591	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1021611517 CA150909930	593	P>S		No	ClinGen TOPMed gnomAD
rs760693330 CA4069311	595	M>I		No	ClinGen ExAC TOPMed gnomAD
rs144262025 CA4069310	595	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA150909948 rs1033380715	596	M>W		No	ClinGen Ensembl

No associated diseases with Q9Y5X1

6 regional properties for Q9Y5X1

Type	Name	Position	InterPro Accession
domain	SH3 domain	1 - 62	IPR001452
domain	Phox homology	247 - 361	IPR001683
domain	Sorting nexin protein, WASP-binding domain	358 - 592	IPR019497
domain	SNX9, SH3 domain	4 - 60	IPR035558
domain	Sorting nexin-9, BAR domain	386 - 595	IPR037425
domain	Sorting nexin-9, PX domain	250 - 375	IPR037426

Functions

		Description
EC Number
Subcellular Localization	Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side Cell membrane; Peripheral membrane protein; Cytoplasmic side Cytoplasmic vesicle, clathrin-coated vesicle Golgi apparatus, trans-Golgi network Cell projection, ruffle Cytoplasm	Localized at sites of endocytosis at the cell membrane Detected on newly formed macropinosomes Transiently recruited to clathrin-coated pits at a late stage of clathrin-coated vesicle formation Colocalizes with the actin cytoskeleton at the cell membrane
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

11 GO annotations of cellular component

Name	Definition
clathrin-coated vesicle	A vesicle with a coat formed of clathrin connected to the membrane via one of the clathrin adaptor complexes.
cuticular plate	A dense network of actin filaments found beneath the apical cell surface of hair cells, and into which stereocilia are inserted.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoplasmic vesicle	A vesicle found in the cytoplasm of a cell.
cytoplasmic vesicle membrane	The lipid bilayer surrounding a cytoplasmic vesicle.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
ruffle	Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork.
trans-Golgi network	The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination.

7 GO annotations of molecular function

Name	Definition
1-phosphatidylinositol binding	Binding to a phosphatidylinositol, a glycophospholipid with its sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol.
Arp2/3 complex binding	Binding to an Arp2/3 complex, a protein complex that contains two actin-related proteins, Arp2 and Arp3, and five novel proteins (ARPC1-5).
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.
identical protein binding	Binding to an identical protein or proteins.
phosphatidylinositol binding	Binding to an inositol-containing glycerophospholipid, i.e. phosphatidylinositol (PtdIns) and its phosphorylated derivatives.
protein homodimerization activity	Binding to an identical protein to form a homodimer.
ubiquitin protein ligase binding	Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins.

13 GO annotations of biological process

Name	Definition
cleavage furrow formation	Generation of the cleavage furrow, a shallow groove in the cell surface near the old metaphase plate that marks the site of cytokinesis. This process includes the recruitment and localized activation of signals such as RhoA at the site of the future furrow to ensure that furrowing initiates at the correct site in the cell.
endocytosis	A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle.
endosomal transport	The directed movement of substances mediated by an endosome, a membrane-bounded organelle that carries materials enclosed in the lumen or located in the endosomal membrane.
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.
lipid tube assembly	The aggregation, arrangement and bonding together of a set of macromolecules to form a macromolecular complex that contains a tube of lipid surrounded by a protein coat involved in membrane shaping of vesicle membranes as they fuse or undergo fission.
mitotic cytokinesis	A cell cycle process that results in the division of the cytoplasm of a cell after mitosis, resulting in the separation of the original cell into two daughter cells.
plasma membrane tubulation	A membrane tubulation process occurring in a plasma membrane.
positive regulation of actin filament polymerization	Any process that activates or increases the frequency, rate or extent of actin polymerization.
positive regulation of GTPase activity	Any process that activates or increases the activity of a GTPase.
positive regulation of membrane protein ectodomain proteolysis	Any process that activates or increases the frequency, rate or extent of membrane protein ectodomain peptidolysis.
positive regulation of protein kinase activity	Any process that activates or increases the frequency, rate or extent of protein kinase activity.
protein-containing complex assembly	The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex.
receptor-mediated endocytosis	An endocytosis process in which cell surface receptors ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8WV41	SNX33	Sorting nexin-33	Homo sapiens (Human)	PR
Q96RF0	SNX18	Sorting nexin-18	Homo sapiens (Human)	PR
Q91ZR2	Snx18	Sorting nexin-18	Mus musculus (Mouse)	PR
Q91VH2	Snx9	Sorting nexin-9	Mus musculus (Mouse)	PR
Q28GP7	snx33	Sorting nexin-33	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR

10	20	30	40	50	60
MATKARVMYD	FAAEPGNNEL	TVNEGEIITI	TNPDVGGGWL	EGRNIKGERG	LVPTDYVEIL
70	80	90	100	110	120
PSDGKDQFSC	GNSVADQAFL	DSLSASTAQA	SSSAASNNHQ	VGSGNDPWSA	WSASKSGNWE
130	140	150	160	170	180
SSEGWGAQPE	GAGAQRNTNT	PNNWDTAFGH	PQAYQGPATG	DDDDWDEDWD	GPKSSSYFKD
190	200	210	220	230	240
SESADAGGAQ	RGNSRASSSS	MKIPLNKFPG	FAKPGTEQYL	LAKQLAKPKE	KIPIIVGDYG
250	260	270	280	290	300
PMWVYPTSTF	DCVVADPRKG	SKMYGLKSYI	EYQLTPTNTN	RSVNHRYKHF	DWLYERLLVK
310	320	330	340	350	360
FGSAIPIPSL	PDKQVTGRFE	EEFIKMRMER	LQAWMTRMCR	HPVISESEVF	QQFLNFRDEK
370	380	390	400	410	420
EWKTGKRKAE	RDELAGVMIF	STMEPEAPDL	DLVEIEQKCE	AVGKFTKAMD	DGVKELLTVG
430	440	450	460	470	480
QEHWKRCTGP	LPKEYQKIGK	ALQSLATVFS	SSGYQGETDL	NDAITEAGKT	YEEIASLVAE
490	500	510	520	530	540
QPKKDLHFLM	ECNHEYKGFL	GCFPDIIGTH	KGAIEKVKES	DKLVATSKIT	LQDKQNMVKR
550	560	570	580	590
VSIMSYALQA	EMNHFHSNRI	YDYNSVIRLY	LEQQVQFYET	IAEKLRQALS	RFPVM