AiPD: Autoinhibited Protein Database

Q8WV41

Gene name	SNX33 (SH3PX3, SH3PXD3C, SNX30)
Protein name	Sorting nexin-33
Names	SH3 and PX domain-containing protein 3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:257364
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

36-182 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

36-182 (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

2 structures for Q8WV41

Entry ID	Method	Resolution	Chain	Position	Source
4AKV	X-ray	265 A	A/B	212-574	PDB
AF-Q8WV41-F1	Predicted				AlphaFoldDB

412 variants for Q8WV41

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
TCGA novel	2	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759689830 CA7668998	4	K>R		No	ClinGen ExAC gnomAD
rs765611816 CA7668999	6	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs866932557 CA272941492	6	R>Q		No	ClinGen TOPMed gnomAD
rs776040564 CA7669000	7	A>G		No	ClinGen ExAC gnomAD
CA7669001 rs763595271	9	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA393471772 rs1227405250	9	Y>N		No	ClinGen TOPMed
CA393471782 rs1191958442	10	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs751986272 CA7669003	12	H>Y		No	ClinGen ExAC gnomAD
CA7669004 rs755762188	15	N>T		No	ClinGen ExAC gnomAD
rs1383358839 CA393471840	18	E>K		No	ClinGen TOPMed gnomAD
CA393471850 rs1339803148	19	I>V		No	ClinGen TOPMed
rs766163162 CA7669005	20	S>G		No	ClinGen ExAC
CA7669006 rs144747980	24	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA7669007 rs754491251	24	D>V		No	ClinGen ExAC gnomAD
rs144747980 CA393471886	24	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1377409096 CA393471961	32	E>D		No	ClinGen gnomAD
CA393471950 rs1302205408	32	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA393471964 rs1595997985	33	T>P		No	ClinGen Ensembl
rs746807268 CA7669012	41	G>V		No	ClinGen ExAC gnomAD
TCGA novel	42	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393472151 rs771099361	42	Q>L		No	ClinGen ExAC gnomAD
CA393472147 rs771099361	42	Q>P		No	ClinGen ExAC gnomAD
CA7669013 rs771099361	42	Q>R		No	ClinGen ExAC gnomAD
CA7669014 rs200030831	43	N>T		No	ClinGen ExAC gnomAD
CA7669015 rs746123425	45	R>C		No	ClinGen ExAC gnomAD
CA7669016 rs751188113	45	R>H		No	ClinGen ExAC TOPMed gnomAD
rs377212143 CA393472262	47	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1595998002 CA393472252	47	E>G		No	ClinGen Ensembl
CA393472341 rs1471888140	53	A>T		No	ClinGen TOPMed
CA7669019 rs769291515	53	A>V		No	ClinGen ExAC TOPMed gnomAD
CA393472361 rs1362415798	54	S>C		No	ClinGen gnomAD
rs1194529529 CA393472367	55	Y>H		No	ClinGen TOPMed
TCGA novel	56	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	57	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs541061274 CA272941624	58	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753499893 CA7669023	59	V>A		No	ClinGen ExAC TOPMed gnomAD
rs367776246 COSM701837 CA7669022	59	V>I	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs371622892 CA7669024	60	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs371622892 CA393472429	60	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs190829588 CA7669025	60	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA272941675 rs752158302	61	S>C		No	ClinGen ExAC TOPMed gnomAD
CA7669026 rs752158302	61	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs758262508 CA7669027	67	H>N		No	ClinGen ExAC TOPMed gnomAD
CA7669029 rs751304006	67	H>Q		No	ClinGen ExAC gnomAD
CA7669028 rs777717282	67	H>R		No	ClinGen ExAC TOPMed gnomAD
CA272941700 rs758262508	67	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA7669030 rs757022070	68	A>S		No	ClinGen ExAC TOPMed gnomAD
rs201133101 CA7669031	69	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs376935129 CA7669033	70	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA7669032 rs376935129	70	Y>N		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	71	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7669034 rs780114828	73	S>G		No	ClinGen ExAC TOPMed gnomAD
rs769238510 CA7669036	76	G>A		No	ClinGen ExAC TOPMed gnomAD
rs769238510 CA393472673	76	G>D		No	ClinGen ExAC TOPMed gnomAD
rs762452142 CA7669038	77	S>F		No	ClinGen ExAC TOPMed gnomAD
rs774979843 CA7669037	77	S>T		No	ClinGen ExAC TOPMed gnomAD
CA7669039 rs766961204	79	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA393472720 rs1473947682	80	A>P		No	ClinGen gnomAD
CA272941744 rs541973865	81	Q>E		No	ClinGen 1000Genomes
rs1469237300 CA393472750	81	Q>H		No	ClinGen TOPMed
CA7669040 rs773510877	82	V>M		No	ClinGen ExAC TOPMed gnomAD
rs759174387 CA7669041	85	Y>H		No	ClinGen ExAC gnomAD
rs148674276 CA7669042	86	N>S		No	ClinGen ESP ExAC gnomAD
rs752159207 CA7669043	87	S>R		No	ClinGen ExAC gnomAD
CA7669046 rs751465424	89	S>G		No	ClinGen ExAC gnomAD
CA7669047 rs757207380	89	S>I		No	ClinGen ExAC TOPMed gnomAD
rs1292806517 CA393472922	90	V>G		No	ClinGen gnomAD
rs767329867 CA7669048	90	V>L		No	ClinGen ExAC gnomAD
rs756320313 CA7669050	92	S>C		No	ClinGen ExAC gnomAD
CA393472945 rs1249799854	92	S>N		No	ClinGen gnomAD
rs369471317 CA7669051	93	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA393472994 rs1490204220	97	G>C		No	ClinGen TOPMed
rs1369478680 CA393473020	99	G>A		No	ClinGen TOPMed
CA7669052 rs749572563	99	G>S		No	ClinGen ExAC TOPMed gnomAD
rs376544301 CA7669053	100	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA7669054 rs779203982	100	S>N		No	ClinGen ExAC gnomAD
CA272941853 rs924301562	103	L>V		No	ClinGen TOPMed gnomAD
rs1349324362 CA393473094	104	S>L		No	ClinGen TOPMed
CA393473106 rs1429731578	106	Q>K		No	ClinGen gnomAD
CA393473120 rs1167906480	107	G>C		No	ClinGen gnomAD
rs921019626 CA272941860	107	G>V		No	ClinGen TOPMed
TCGA novel	110	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA272941864 rs953788186	111	E>K		No	ClinGen Ensembl
CA7669058 CA7669057 rs371112191	112	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA7669059 rs373531151	114	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA272941883 rs376433115	115	D>G		No	ClinGen ESP TOPMed gnomAD
rs775099131 CA7669060	118	D>N		No	ClinGen ExAC TOPMed gnomAD
CA7669061 rs762631861	120	W>*		No	ClinGen ExAC gnomAD
CA393473410 rs773908381	122	D>H		No	ClinGen ExAC gnomAD
CA7669063 rs773908381	122	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs200632506 CA7669066	123	G>*		No	ClinGen ExAC TOPMed gnomAD
CA7669065 rs200632506	123	G>R		No	ClinGen ExAC TOPMed gnomAD
rs766319506 CA7669068	126	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1282987818 CA393473517	126	V>L		No	ClinGen gnomAD
rs755312607 CA7669070	128	E>G		No	ClinGen ExAC gnomAD
CA7669069 rs151223588	128	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA393473570 rs1350775123	129	E>K		No	ClinGen gnomAD
rs202135342 CA7669072	131	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7669071 rs779081434	131	R>W		No	ClinGen ExAC gnomAD
CA7669073 rs758895108	133	G>D		No	ClinGen ExAC gnomAD
rs201961630 CA7669076	134	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs372555211 CA7669074	134	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs201961630 CA7669075	134	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1595998155 CA393473703	135	L>P		No	ClinGen Ensembl
rs748924668 CA7669078	137	T>I		No	ClinGen ExAC gnomAD
rs748924668 CA393473730	137	T>S		No	ClinGen ExAC gnomAD
CA393473748 rs1455419181	138	N>S		No	ClinGen gnomAD
CA7669079 rs768310408	139	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs140066935 CA393473789	140	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA7669080 rs140066935	140	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1305863313 CA393473787	140	H>Y		No	ClinGen gnomAD
CA393473807 rs1308344402	141	P>T		No	ClinGen gnomAD
rs1319318603 CA393473841	142	P>A		No	ClinGen TOPMed gnomAD
rs1319318603 CA393473836	142	P>T		No	ClinGen TOPMed gnomAD
CA272941978 rs199711200	143	L>V		No	ClinGen Ensembl
rs767105040 CA7669082	144	N>H		No	ClinGen ExAC gnomAD
rs1016829514 CA272941985	144	N>S		No	ClinGen TOPMed
rs760734892 CA7669084	145	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1215213127 CA393473928	146	S>F		No	ClinGen gnomAD
CA7669085 rs766266501	147	Y>*		No	ClinGen ExAC gnomAD
rs1471284538 CA393473943	148	P>A		No	ClinGen TOPMed
rs1471284538 CA393473946	148	P>S		No	ClinGen TOPMed
rs996682669 CA272942021	149	G>A		No	ClinGen TOPMed gnomAD
rs753703376 CA7669087	150	A>S		No	ClinGen ExAC gnomAD
CA7669086 rs753703376	150	A>T		No	ClinGen ExAC gnomAD
rs902526510 CA272942054	150	A>V		No	ClinGen Ensembl
CA272942061 rs923023608	151	Y>S		No	ClinGen Ensembl
CA7669088 rs79030022	152	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758382809 CA7669090	153	S>I		No	ClinGen ExAC TOPMed gnomAD
rs752769880 CA7669089	153	S>R		No	ClinGen ExAC gnomAD
CA393474124 rs1461984516	155	H>Y		No	ClinGen gnomAD
rs752003123 CA7669092	156	M>I		No	ClinGen ExAC gnomAD
rs750809910 CA7669091	156	M>L		No	ClinGen ExAC gnomAD
CA272942081 rs750809910	156	M>V		No	ClinGen ExAC gnomAD
rs138868218 CA272942103	157	A>P		No	ClinGen ESP TOPMed gnomAD
rs138868218 CA272942100	157	A>T		No	ClinGen ESP TOPMed gnomAD
CA393474197 rs1595998205	158	F>S		No	ClinGen Ensembl
CA7669094 rs781477737	159	R>Q		No	ClinGen ExAC gnomAD
CA7669093 rs757817318	159	R>W		No	ClinGen ExAC gnomAD
rs201668627 CA7669096	160	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7669098 rs747875360	164	L>P		No	ClinGen ExAC gnomAD
rs1348659234 CA393474315	165	E>Q		No	ClinGen TOPMed
rs149404528 CA7669100	166	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs771480251 CA7669099	166	R>W		No	ClinGen ExAC TOPMed gnomAD
CA272942165 rs989777038	167	Q>R		No	ClinGen TOPMed gnomAD
CA393474376 rs1595998225	168	D>G		No	ClinGen Ensembl
rs770992901 CA7669102	169	S>G		No	ClinGen ExAC gnomAD
CA393474406 rs1595998230	170	L>P		No	ClinGen Ensembl
rs776523272 CA7669103	171	A>S		No	ClinGen ExAC gnomAD
CA7669104 rs759431642	171	A>V		No	ClinGen ExAC gnomAD
rs1167267877 CA393474434	174	K>R		No	ClinGen gnomAD
CA7669105 rs765176187	175	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs200605367 CA272942183	177	S>N		No	ClinGen 1000Genomes
CA7669107 rs535545886	177	S>R		No	ClinGen 1000Genomes ExAC
rs751674874 CA7669109	178	V>M		No	ClinGen ExAC gnomAD
rs781687758 CA7669111	179	V>M		No	ClinGen ExAC gnomAD
CA7669112 rs750977657	180	G>S		No	ClinGen ExAC TOPMed gnomAD
CA7669114 rs780533477	181	R>C		No	ClinGen ExAC gnomAD
rs747741043 COSM1227080 CA7669115	181	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA7669116 rs373875066	185	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1164827288 CA393474572	185	R>H		No	ClinGen TOPMed
rs1280771990 CA393474654	190	V>L		No	ClinGen TOPMed gnomAD
rs561996646 CA272942264	191	R>C		No	ClinGen TOPMed gnomAD
rs1255543350 CA393474747	195	E>D		No	ClinGen gnomAD
rs1185683285 CA393474738	195	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7669118 rs746544703	196	A>S		No	ClinGen ExAC TOPMed gnomAD
CA393474835 rs1206643857	201	D>V		No	ClinGen TOPMed
TCGA novel	203	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs143802641 CA7669123	204	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368502863 CA7669122	204	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs368502863 CA7669121	204	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1395988070 CA393474914	207	K>E		No	ClinGen TOPMed
CA7669124 rs372586273	208	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA7669126 rs774255201	209	A>G		No	ClinGen ExAC gnomAD
CA393474950 rs941303391	209	A>S		No	ClinGen TOPMed gnomAD
CA272942318 rs941303391	209	A>T		No	ClinGen TOPMed gnomAD
rs774255201 CA272942324	209	A>V		No	ClinGen ExAC gnomAD
TCGA novel	210	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	211	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1271571285 CA393475014	212	Y>C		No	ClinGen gnomAD
rs527425529 CA7669127	212	Y>H		No	ClinGen ExAC gnomAD
rs1055006956 CA272942331	213	S>F		No	ClinGen Ensembl
rs767623354 CA393475062	214	I>F		No	ClinGen ExAC gnomAD
rs767623354 CA7669128	214	I>V		No	ClinGen ExAC gnomAD
rs1280836931 CA393475118	216	M>T		No	ClinGen gnomAD
CA393475149 rs1458940805	218	P>T		No	ClinGen TOPMed
CA7669130 rs747196361	219	R>C		No	ClinGen ExAC TOPMed gnomAD
CA272942353 rs747196361	219	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1447888847 CA393475190	219	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	220	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768880962 CA7669131	224	K>E		No	ClinGen ExAC TOPMed gnomAD
CA393475345 rs1216507310	225	A>S		No	ClinGen gnomAD
rs1243916215 CA393475356	226	N>S		No	ClinGen TOPMed gnomAD
CA7669134 rs777499852	231	A>S		No	ClinGen ExAC TOPMed gnomAD
CA272942403 rs775834713	231	A>V		No	ClinGen TOPMed
CA393475485 rs1172342494	233	S>P		No	ClinGen gnomAD
CA7669136 rs756800184	241	T>S		No	ClinGen ExAC TOPMed gnomAD
CA393476873 rs1300531408	250	I>V		No	ClinGen TOPMed
rs775081813 CA7669140	253	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1303636417 CA393477010	255	T>I		No	ClinGen gnomAD
CA7669141 rs749139889	256	P>A		No	ClinGen ExAC gnomAD
CA393477034 rs1595998363	257	T>P		No	ClinGen Ensembl
rs148170720 CA7669142	259	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7669143 COSM471078 rs774524839	263	V>I	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs767570028 CA7669145	265	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA393477211 rs1463579828	265	R>W		No	ClinGen TOPMed gnomAD
rs1253814510 CA393477225	266	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA272942469 rs998705036 COSM265918	266	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA272942471 rs998705036	266	R>L		No	ClinGen TOPMed gnomAD
rs1448582845 CA393477248	268	K>E		No	ClinGen TOPMed
TCGA novel	270	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs894088683 CA272942494	276	R>C		No	ClinGen Ensembl
rs1435102212 CA393477439	276	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs573133731 CA7669149	279	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA7669148 rs766937527	279	H>Y		No	ClinGen ExAC gnomAD
rs1396138438 CA393477601	283	V>I		No	ClinGen gnomAD
CA272942526 rs147239054	285	S>L		No	ClinGen ESP TOPMed gnomAD
rs1241151033 CA393477740	290	P>S		No	ClinGen gnomAD
rs1327196935 CA393477842	294	A>T		No	ClinGen gnomAD
CA7669152 rs139083526	295	T>A		No	ClinGen ExAC TOPMed gnomAD
CA7669153 rs757031159	295	T>I		No	ClinGen ExAC gnomAD
CA393477937 rs1187696758	297	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
COSM965038 rs980964644 CA272942556	299	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA7669156 rs745376955	303	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1595998465 CA393478122	304	E>K		No	ClinGen Ensembl
CA7669157 rs780062680 COSM304649	306	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
CA393478237 rs1471980020	308	R>Q		No	ClinGen gnomAD
rs749223606 CA7669158	308	R>W		No	ClinGen ExAC gnomAD
rs372227567 CA7669160	311	I>F		No	ClinGen ESP ExAC gnomAD
rs1456112598 CA393478318	311	I>S		No	ClinGen gnomAD
rs772283125 CA7669162	315	D>G		No	ClinGen ExAC gnomAD
TCGA novel	315	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393478514 rs1326790094	317	M>V		No	ClinGen gnomAD
CA393478547 rs1595998484	318	T>P		No	ClinGen Ensembl
rs1390568302 CA393478594	319	S>N		No	ClinGen gnomAD
rs1349728323 CA393478643	321	P>T		No	ClinGen gnomAD
CA393478694 rs1463151475	323	L>R		No	ClinGen gnomAD
CA7669164 rs375208796	325	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA393478749 rs1402879811	326	Y>H		No	ClinGen TOPMed
rs1242918081 CA393478774	327	E>K		No	ClinGen TOPMed gnomAD
rs1242918081 CA393478778	327	E>Q		No	ClinGen TOPMed gnomAD
rs777169497 CA7669166	333	L>V		No	ClinGen ExAC gnomAD
CA393478964 rs1272930333	334	S>G		No	ClinGen gnomAD
rs765623933 CA7669168	336	L>V		No	ClinGen ExAC TOPMed gnomAD
CA393479072 rs369680927 CA7669171	338	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA7669170 rs761493110	338	D>N		No	ClinGen ExAC gnomAD
rs773192088 CA272942621	338	D>V		No	ClinGen Ensembl
CA393479129 rs373107501	339	K>N		No	ClinGen ESP ExAC gnomAD
rs1408936209 CA393479146	340	Q>R		No	ClinGen TOPMed gnomAD
TCGA novel	342	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393479300 rs1186433657	346	R>C		No	ClinGen TOPMed gnomAD
rs534696993 CA7669173	347	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762692244 CA272942628	347	R>W		No	ClinGen TOPMed
rs779496466 CA7669174	348	A>V		No	ClinGen ExAC TOPMed gnomAD
CA272942640 rs868111329	356	A>V		No	ClinGen Ensembl
CA7669180 rs777946764	367	E>K		No	ClinGen ExAC TOPMed gnomAD
rs990745856 CA272942676	368	H>Q		No	ClinGen Ensembl
rs1312282888 CA393479991	374	V>M		No	ClinGen TOPMed gnomAD
rs1038368899 CA272942678	375	E>D		No	ClinGen TOPMed gnomAD
CA393480015 rs1327314751	375	E>K		No	ClinGen gnomAD
CA7669182 rs574554026	376	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393480044 rs574554026	376	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	377	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393480084 rs1341858283	377	R>G		No	ClinGen gnomAD
rs776636744 CA7669183	377	R>H		No	ClinGen ExAC gnomAD
CA393480113 rs150854461 CA7669186	378	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs150854461 CA7669185	378	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1429978805 CA393480222	383	A>S		No	ClinGen gnomAD
CA393480235 rs1186243664	383	A>V		No	ClinGen gnomAD
CA7669187 rs763434424	387	K>N		No	ClinGen ExAC gnomAD
rs1175453098 CA393480356	388	M>V		No	ClinGen gnomAD
CA7669189 rs750085248	390	D>N		No	ClinGen ExAC gnomAD
rs1302396137 CA393480475	391	S>G		No	ClinGen gnomAD
rs1441013363 CA393480488	391	S>I		No	ClinGen TOPMed
CA393480518 rs1595998587	392	V>A		No	ClinGen Ensembl
CA7669191 rs765854890	392	V>I		No	ClinGen ExAC TOPMed gnomAD
CA393480635 rs1463440797	399	A>T		No	ClinGen gnomAD
CA7669192 rs753290847	399	A>V		No	ClinGen ExAC gnomAD
rs935427015 CA272942752	404	R>C		No	ClinGen gnomAD
CA7669194 rs375078411	404	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA7669195 rs375078411	404	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs777615395 CA7669197	406	H>R		No	ClinGen ExAC gnomAD
CA7669198 rs747246404	407	V>M		No	ClinGen ExAC gnomAD
rs1382007793	409	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs564613054 CA7669200	409	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs745967075 CA7669201	411	R>C		No	ClinGen ExAC TOPMed gnomAD
CA7669202 rs377018502	411	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs202134640 CA7669204	413	E>D		No	ClinGen ExAC gnomAD
CA393481023 rs1432573726	415	Q>*		No	ClinGen gnomAD
rs1376701769 CA393481025	415	Q>L		No	ClinGen gnomAD
CA7669205 rs570314174	417	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1318804330 CA393481085	418	G>S		No	ClinGen TOPMed
CA7669206 rs774591442	419	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1414669519 CA393481121	420	A>G		No	ClinGen TOPMed
CA393481153 rs1165460339	421	F>L		No	ClinGen TOPMed
CA7669208 rs765977253	422	Q>*		No	ClinGen ExAC gnomAD
CA272942840 rs1022688025	423	A>V		No	ClinGen TOPMed
rs1441913589 CA393481241	426	H>Y		No	ClinGen gnomAD
rs1295717616 CA393481334	430	M>V		No	ClinGen gnomAD
TCGA novel	431	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776154782 CA393481406	432	P>H		No	ClinGen ExAC TOPMed gnomAD
CA7669211 rs776154782	432	P>L		No	ClinGen ExAC TOPMed gnomAD
rs776154782 CA393481411	432	P>R		No	ClinGen ExAC TOPMed gnomAD
rs149725521 CA7669213	433	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144583212 CA393481432	433	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs144583212 CA7669215	433	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs144583212 CA7669214	433	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs149725521 CA393481414	433	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7669212 rs149725521	433	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747082791	435	C>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1244805454 CA393481576	439	L>F		No	ClinGen gnomAD
TCGA novel	439	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393481600 rs1214636471	440	N>K		No	ClinGen TOPMed
rs751319113 CA7669217	440	N>S		No	ClinGen ExAC gnomAD
rs1451636892 CA393481616	441	S>N		No	ClinGen TOPMed
CA393481654 rs1177735584	443	I>V		No	ClinGen gnomAD
rs757462528 CA7669218	446	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7669220 rs746150677	448	R>C		No	ClinGen ExAC TOPMed gnomAD
rs139396216 CA7669221	448	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs780338453 CA7669222	449	T>N		No	ClinGen ExAC gnomAD
CA7669223 rs749753791	450	Y>C		No	ClinGen ExAC gnomAD
rs1362778122 CA393481797	451	E>A		No	ClinGen TOPMed
rs769289489 CA7669224	454	G>R		No	ClinGen ExAC gnomAD
rs774735984 CA393481900	455	E>D		No	ClinGen ExAC gnomAD
rs1015086590 CA272942935	456	M>I		No	ClinGen TOPMed gnomAD
CA7669226 rs748481488	456	M>V		No	ClinGen ExAC gnomAD
rs1287212568 CA393482025	461	P>L		No	ClinGen gnomAD
CA393482024 rs1285211850	461	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA272942955 rs200809372	462	K>E		No	ClinGen TOPMed gnomAD
CA393482147 rs1229710365	468	M>I		No	ClinGen gnomAD
rs772534733 CA7669227	468	M>L		No	ClinGen ExAC
rs1482068543 CA393482297	479	L>F		No	ClinGen gnomAD
CA7669231 rs764717244	480	S>F		No	ClinGen ExAC gnomAD
CA393482384 rs1475545470	483	P>L		No	ClinGen TOPMed gnomAD
rs1475545470 CA393482383	483	P>R		No	ClinGen TOPMed gnomAD
rs774999004 CA7669232	486	I>T		No	ClinGen ExAC gnomAD
rs763972719 CA7669234	487	H>L		No	ClinGen ExAC gnomAD
CA7669235 rs763972719	487	H>R		No	ClinGen ExAC gnomAD
CA393482462 rs1423456817	487	H>Y		No	ClinGen gnomAD
rs1566967951 CA393483059	491	G>A		No	ClinGen Ensembl
rs767385255 CA7669237	491	G>R		No	ClinGen ExAC gnomAD
COSM303266 rs760937042 CA7669258	492	A>T	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA393483082 rs1166781223	493	F>V		No	ClinGen TOPMed
rs144164710 CA7669260	494	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1187093316 CA393483127	495	K>R		No	ClinGen TOPMed
CA7669262 rs779111603	501	R>C		No	ClinGen ExAC gnomAD
CA7669263 rs146422729	501	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs140843780 CA7669264	503	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1464803235 CA393483298	505	E>K		No	ClinGen TOPMed
rs1400722136 CA393483326	507	R>C		No	ClinGen TOPMed gnomAD
CA7669266 rs375687634	507	R>H	Variant assessed as Somatic; 4.628e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA272946650 rs375687634	507	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs142089609 CA7669267	508	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs779660626 CA7669268	509	V>M		No	ClinGen ExAC TOPMed gnomAD
CA272946661 rs896825447	510	Q>R		No	ClinGen Ensembl
CA7669270 rs768048157	512	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1274128346 CA393483433	513	A>T		No	ClinGen gnomAD
CA7669273 rs772077671	515	G>S		No	ClinGen ExAC TOPMed gnomAD
CA393483505 rs1394638182	517	R>C		No	ClinGen TOPMed
rs1270089517 CA393483519	518	R>G		No	ClinGen TOPMed gnomAD
TCGA novel	519	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM965043 rs1327418745 CA393483550	519	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA7669274 COSM363735 rs773090905	521	R>C	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA393483585 rs1268551268	521	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7669276 rs140532329	522	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7669275 rs140532329	522	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1375025433 CA393483625	524	G>D		No	ClinGen TOPMed
rs759856909 CA7669278	526	A>T		No	ClinGen ExAC TOPMed gnomAD
CA393483660 rs1596000279	526	A>V		No	ClinGen Ensembl
CA393483664 rs1348914858	527	L>V		No	ClinGen gnomAD
CA393483693 rs1409099176	529	A>S		No	ClinGen gnomAD
CA7669279 rs765168999	529	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7669281 rs758795346	530	E>D		No	ClinGen ExAC gnomAD
CA393483761 rs1409269448	533	H>Y		No	ClinGen TOPMed gnomAD
CA7669282 rs140542401	536	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA272946766 rs151284301	536	Q>R		No	ClinGen 1000Genomes
rs138286330 CA7669283	537	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs757588322 CA7669284	537	R>H		No	ClinGen ExAC TOPMed gnomAD
CA393483851 rs1411576506	538	R>C		No	ClinGen TOPMed gnomAD
rs371398105 CA272946789	538	R>H		No	ClinGen ESP TOPMed
CA393483910 rs1228052026	541	D>E		No	ClinGen gnomAD
CA7669286 rs748880200	541	D>N		No	ClinGen ExAC gnomAD
CA7669287 rs146914502	542	F>Y		No	ClinGen ExAC TOPMed gnomAD
rs1208494436 CA393483962	544	H>Q		No	ClinGen gnomAD
rs1358908146 CA393483952	544	H>Y		No	ClinGen gnomAD
rs1305081234 CA393483978	545	M>I		No	ClinGen TOPMed
rs368062911 CA7669288	545	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs747715743 CA7669289	547	Q>E		No	ClinGen ExAC gnomAD
CA7669290 rs771531183	548	N>H		No	ClinGen ExAC gnomAD
rs1566968037 CA393484025	548	N>I		No	ClinGen Ensembl
CA7669292 rs747006284	551	R>C		No	ClinGen ExAC TOPMed gnomAD
rs747006284 CA7669293	551	R>G		No	ClinGen ExAC TOPMed gnomAD
CA393484055 COSM258963 rs1023883471	551	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA272946823 rs1023883471	551	R>L		No	ClinGen gnomAD
CA393484099 rs756806594	554	I>M		No	ClinGen ExAC gnomAD
rs765530961 CA7669296	555	L>V		No	ClinGen ExAC TOPMed gnomAD
rs775387087 CA7669297	556	F>L		No	ClinGen ExAC gnomAD
rs763070151 CA7669298	557	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs200998546 COSM1374631 CA7669301	559	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA7669299 rs764200361	559	R>W		No	ClinGen ExAC gnomAD
CA393484175 rs1313521978	561	G>D		No	ClinGen gnomAD
CA393484220 rs1195582869	565	E>G		No	ClinGen TOPMed
CA393484215 rs1356825476	565	E>K		No	ClinGen gnomAD
CA393484239 rs1477299966	567	T>P		No	ClinGen TOPMed
rs750829627 CA7669303	569	R>C		No	ClinGen ExAC TOPMed gnomAD
rs754536439 CA7669304	569	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs750829627 CA272946865	569	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1203996056 CA393484268	570	M>V		No	ClinGen TOPMed
CA7669305 rs375706718	572	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA272946878 rs1031022019	574	L>H		No	ClinGen TOPMed
rs1031022019 CA393484329	574	L>R		No	ClinGen TOPMed

No associated diseases with Q8WV41

4 regional properties for Q8WV41

Type	Name	Position	InterPro Accession
domain	SH3 domain	1 - 61	IPR001452
domain	Phox homology	227 - 340	IPR001683
domain	Sorting nexin protein, WASP-binding domain	337 - 572	IPR019497
domain	Sorting nexin-33, BAR domain	365 - 571	IPR037427

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytosol Membrane; Peripheral membrane protein; Cytoplasmic side Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side	Primarily cytosolic, but a minor proportion is membrane-bound (PubMed:18353773) Not associated with membranes (PubMed:21048941)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
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.
extrinsic component of membrane	The component of a membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

2 GO annotations of molecular function

Name	Definition
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.

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.
endosome organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of endosomes.
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.
macropinocytosis	An endocytosis process that results in the uptake of liquid material by cells from their external environment by the 'ruffling' of the cell membrane to form heterogeneously sized intracellular vesicles called macropinosomes, which can be up to 5 micrometers in size.
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.
negative regulation of endocytosis	Any process that stops, prevents, or reduces the frequency, rate or extent of endocytosis.
negative regulation of protein localization to cell surface	Any process that stops, prevents, or reduces the frequency, rate or extent of protein localization to the cell surface.
plasma membrane tubulation	A membrane tubulation process occurring in a plasma membrane.
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 localization to cell surface	Any process that activates or increases the frequency, rate or extent of protein localization to the cell surface.
protein import	The targeting and directed movement of proteins into a cell or organelle. Not all import involves an initial targeting event.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9Y5X1	SNX9	Sorting nexin-9	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
MALKGRALYD	FHSENKEEIS	IQQDEDLVIF	SETSLDGWLQ	GQNSRGETGL	FPASYVEIVR
70	80	90	100	110	120
SGISTNHADY	SSSPAGSPGA	QVSLYNSPSV	ASPARSGGGS	GFLSNQGSFE	EDDDDDWDDW
130	140	150	160	170	180
DDGCTVVEEP	RAGGLGTNGH	PPLNLSYPGA	YPSQHMAFRP	KPPLERQDSL	ASAKRGSVVG
190	200	210	220	230	240
RNLNRFSCFV	RSGVEAFILG	DVPMMAKIAE	TYSIEMGPRG	PQWKANPHPF	ACSVEDPTKQ
250	260	270	280	290	300
TKFKGIKSYI	SYKLTPTHAA	SPVYRRYKHF	DWLYNRLLHK	FTVISVPHLP	EKQATGRFEE
310	320	330	340	350	360
DFIEKRKRRL	ILWMDHMTSH	PVLSQYEGFQ	HFLSCLDDKQ	WKMGKRRAEK	DEMVGASFLL
370	380	390	400	410	420
TFQIPTEHQD	LQDVEDRVDT	FKAFSKKMDD	SVLQLSTVAS	ELVRKHVGGF	RKEFQKLGSA
430	440	450	460	470	480
FQAISHSFQM	DPPFCSEALN	SAISHTGRTY	EAIGEMFAEQ	PKNDLFQMLD	TLSLYQGLLS
490	500	510	520	530	540
NFPDIIHLQK	GAFAKVKESQ	RMSDEGRMVQ	DEADGIRRRC	RVVGFALQAE	MNHFHQRREL
550	560	570
DFKHMMQNYL	RQQILFYQRV	GQQLEKTLRM	YDNL