AiPD: Autoinhibited Protein Database

Q9UNF0

Gene name	PACSIN2
Protein name	Protein kinase C and casein kinase substrate in neurons protein 2
Names	Syndapin-2, Syndapin-II, SdpII
Species	Homo sapiens (Human)
KEGG Pathway	hsa:11252
EC number
Protein Class	PROLINE-SERINE-THREONINE PHOSPHATASE INTERACTING PROTEIN 1 (PTHR23065)

Descriptions

PACSINs plays a central role in synaptic vesicle recycling and receptor-mediated endocytosis, ultimately controlling the cell surface expression of transmembrane proteins. The C-terminal SH3 domain of PACSIN2 is an autoinhibitory domain that affects activation of the F-BAR domain. The competing binding of protein ligands to the SH3 or linker domain or posttranslational modifications of PACSIN2 permits activation of the F-BAR domain.

Autoinhibitory domains (AIDs)

Target domain	1-324 (F-BAR domain)
Relief mechanism	Ligand binding
Assay	Mutagenesis experiment, Structural analysis

AID

426-486 (SH3 domain)

Target domain

1-324 (F-BAR domain)

Relief mechanism

Ligand binding (Binding of protein ligands to the SH3 or linker domains of Pacsin)

Assay

Mutagenesis experiment, Structural analysis

Accessory elements

No accessory elements

References

Shimada A et al. (2010) "Mapping of the basic amino-acid residues responsible for tubulation and cellular protrusion by the EFC/F-BAR domain of pacsin2/Syndapin II", FEBS letters, 584, 1111-8

Wang Q et al. (2009) "Molecular mechanism of membrane constriction and tubulation mediated by the F-BAR protein Pacsin/Syndapin", Proceedings of the National Academy of Sciences of the United States of America, 106, 12700-5

Autoinhibited structure

Activated structure

5 structures for Q9UNF0

Entry ID	Method	Resolution	Chain	Position	Source
3ABH	X-ray	200 A	A/B	1-305	PDB
3ACO	X-ray	270 A	A/B	1-343	PDB
3HAJ	X-ray	278 A	A/B	1-486	PDB
3Q0K	X-ray	260 A	A/B/C/D	16-304	PDB
AF-Q9UNF0-F1	Predicted				AlphaFoldDB

353 variants for Q9UNF0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA411806797 rs1424751594	2	S>C		No	ClinGen TOPMed gnomAD
rs770685655 CA10271601	4	T>I		No	ClinGen ExAC gnomAD
rs778420151 CA10271602	4	T>S		No	ClinGen ExAC gnomAD
rs781724114 CA10271599	6	D>G		No	ClinGen ExAC TOPMed gnomAD
rs755416776 CA10271598	7	D>E		No	ClinGen ExAC gnomAD
CA411806756 rs759729412	9	V>F		No	ClinGen ExAC gnomAD
CA10271596 rs759729412	9	V>I		No	ClinGen ExAC gnomAD
CA10271595 rs758351401	12	E>D		No	ClinGen ExAC gnomAD
CA324761093 rs926159807	16	D>N		No	ClinGen Ensembl
rs1340676484 CA411806668	20	E>A		No	ClinGen gnomAD
CA411805175 rs1359667858	21	V>A		No	ClinGen gnomAD
rs1213871395 CA411805180	21	V>I		No	ClinGen gnomAD
rs75923934 CA10271561	22	G>E		No	ClinGen 1000Genomes ExAC gnomAD
CA10271562 rs776035127	22	G>R		No	ClinGen ExAC gnomAD
rs1322329319 CA411805160	24	Y>H		No	ClinGen TOPMed
CA411805144 rs749432192	26	R>P		No	ClinGen ExAC TOPMed gnomAD
rs749432192 CA10271557	26	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs757307330 CA10271558	26	R>W		No	ClinGen ExAC gnomAD
CA10271556 rs369519345	27	T>I		No	ClinGen ESP ExAC gnomAD
rs1427224178 CA411805140	27	T>S		No	ClinGen gnomAD
CA411805138 rs369519345	27	T>S		No	ClinGen ESP ExAC gnomAD
CA10271554 rs752468169	30	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10271555 rs756372354	30	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1283069908 CA411805112	32	D>N		No	ClinGen TOPMed
rs764327906 CA10271550	33	D>N		No	ClinGen ExAC TOPMed gnomAD
CA324749249 rs200823245	35	H>P		No	ClinGen Ensembl
rs762537972 CA10271549	36	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1297561474 CA411805071	36	R>H		No	ClinGen gnomAD
CA10271547 rs372271560	40	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA411804985 rs776443473	44	C>F		No	ClinGen ExAC TOPMed gnomAD
CA10271545 rs776443473	44	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs908340516 CA324749237	45	L>Q		No	ClinGen Ensembl
CA10271544 rs772437540	46	H>R		No	ClinGen ExAC gnomAD
rs1460972101 CA411804946	48	R>Q		No	ClinGen gnomAD
CA10271543 COSM3390268 rs759820703	48	R>W	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA411804939 rs1478422057	49	A>S		No	ClinGen TOPMed
CA411804936 rs1176724202	49	A>V		No	ClinGen TOPMed
CA10271541 rs771412703	50	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM188173 CA411804932 rs1480334213	50	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA10271540 rs749338433	51	I>V		No	ClinGen ExAC gnomAD
rs1263856007 CA411804917	52	E>K		No	ClinGen TOPMed gnomAD
rs1481196822 CA411804885	54	A>V		No	ClinGen TOPMed gnomAD
CA411804860 COSM1034833 rs1321548299	56	A>V	endometrium prostate [Cosmic]	No	ClinGen cosmic curated TOPMed
CA10271535 rs754743871	62	W>R		No	ClinGen ExAC gnomAD
CA10271534 rs751368353	63	A>V		No	ClinGen ExAC TOPMed gnomAD
CA411804778 COSM1535378 rs1322605656	64	R>Q	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1569232586 CA411804779	64	R>W		No	ClinGen Ensembl
COSM1034832 CA411804771 rs991913266	65	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs780034039 CA10271533	65	R>H		No	ClinGen ExAC TOPMed gnomAD
CA324749217 rs991913266	65	R>S		No	ClinGen gnomAD
rs576242590 CA10271532	67	R>G		No	ClinGen ExAC TOPMed gnomAD
CA411804748 rs1306492383	67	R>K		No	ClinGen gnomAD
CA411804744 rs1389753907	67	R>S		No	ClinGen gnomAD
rs761434727 CA10271529	70	V>A		No	ClinGen ExAC gnomAD
rs761434727 CA411804712	70	V>E		No	ClinGen ExAC gnomAD
CA10271530 rs529199422	70	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763776178 CA10271509	74	P>L		No	ClinGen ExAC gnomAD
CA411803935 rs1281119148	74	P>S		No	ClinGen Ensembl
CA411803920 rs1258400981	75	Q>R		No	ClinGen TOPMed
rs752420359 CA10271507	77	G>R		No	ClinGen ExAC TOPMed gnomAD
CA10271506 rs199901520	78	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10271504 rs117923688	79	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10271503 rs117923688	79	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10271502 rs761947967	80	E>G		No	ClinGen ExAC gnomAD
rs776614292 CA10271501	81	K>Q		No	ClinGen ExAC gnomAD
rs771924642 CA10271497	85	A>D		No	ClinGen ExAC TOPMed
rs201034705 CA10271498	85	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA411803775 rs1372355981	86	F>L		No	ClinGen gnomAD
rs1255829303 CA411803781	86	F>S		No	ClinGen gnomAD
rs1478648251 CA411803751	87	M>I		No	ClinGen gnomAD
CA411803767 rs745668624	87	M>L		No	ClinGen ExAC TOPMed gnomAD
CA10271496 rs745668624	87	M>V		No	ClinGen ExAC TOPMed gnomAD
CA10271495 rs532537143	88	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA10271494 rs757302705	89	E>K		No	ClinGen ExAC TOPMed gnomAD
CA411803628 rs1294001539	91	E>A		No	ClinGen gnomAD
CA411803601 rs1368090061	92	R>G		No	ClinGen TOPMed
CA10271493 rs748813771	93	V>L		No	ClinGen ExAC TOPMed gnomAD
CA411803542 rs1230073964	95	E>K		No	ClinGen TOPMed gnomAD
CA10271491 rs755681792	99	E>K		No	ClinGen ExAC gnomAD
rs1324950086 CA411803401	100	V>A		No	ClinGen gnomAD
rs183890188 CA10271489	100	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs183890188 CA10271490	100	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA10271487 rs750851888	105	M>K		No	ClinGen ExAC TOPMed gnomAD
rs758750630 CA10271488	105	M>V		No	ClinGen ExAC TOPMed gnomAD
COSM1535379 rs1199021489 CA411803267	107	D>N	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA411803216 rs1248584768	109	F>V		No	ClinGen gnomAD
rs1437242750 CA411803088	114	N>K		No	ClinGen TOPMed gnomAD
CA10271484 rs777216700	115	W>*		No	ClinGen ExAC gnomAD
rs764036156 CA10271483	118	E>V		No	ClinGen ExAC gnomAD
rs1343241910 CA411803020	120	F>L		No	ClinGen TOPMed gnomAD
rs991786704 CA324748280	120	F>L		No	ClinGen TOPMed gnomAD
rs1222595538 CA411803023	120	F>S		No	ClinGen gnomAD
rs1253202673 CA411803002	123	Q>E		No	ClinGen TOPMed
rs1276195346 CA411802980	125	M>I		No	ClinGen gnomAD
CA10271481 rs775794255	127	G>S		No	ClinGen ExAC TOPMed gnomAD
CA10271480 rs772477232	128	F>L		No	ClinGen ExAC gnomAD
rs1467090972 CA411802955	129	K>R		No	ClinGen gnomAD
rs373959797 CA10271477	137	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777771672 CA10271475	139	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10271476 rs559889047	139	R>W		No	ClinGen 1000Genomes ExAC gnomAD
rs1231229502 CA411802875	141	A>T		No	ClinGen gnomAD
rs1385937821 CA411802838	146	A>T		No	ClinGen gnomAD
CA10271474 rs769127807	147	K>R		No	ClinGen ExAC gnomAD
rs1242983114 CA411802824	148	K>E		No	ClinGen gnomAD
rs773011833 CA10271458	152	V>L		No	ClinGen ExAC gnomAD
rs780728247 CA10271455	153	E>G		No	ClinGen ExAC TOPMed gnomAD
CA411802506 rs1555909521	155	A>E		No	ClinGen Ensembl
rs746623331 CA10271453 COSM267098	155	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC
CA10271451 rs757502723	158	A>S		No	ClinGen ExAC gnomAD
CA411802389 rs1420420513	162	A>V		No	ClinGen gnomAD
CA10271449 rs778135933	165	E>D		No	ClinGen ExAC gnomAD
CA411802320 rs1602187769	165	E>G		No	ClinGen Ensembl
rs1186305171 CA411802256	169	A>T		No	ClinGen gnomAD
rs753281877 CA10271447	170	I>S		No	ClinGen ExAC gnomAD
rs1260627815 CA411802203	171	S>L		No	ClinGen gnomAD
CA10271446 rs767668871	172	R>Q		No	ClinGen ExAC gnomAD
rs751774240 CA10271444	173	E>K		No	ClinGen ExAC TOPMed gnomAD
rs751774240 CA10271445	173	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA411802177 rs766681987	174	A>P		No	ClinGen ExAC TOPMed gnomAD
CA10271443 rs766681987	174	A>T		No	ClinGen ExAC TOPMed gnomAD
rs35383004 CA10271442 VAR_053555	175	N>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1323423373 CA411802145	176	S>N		No	ClinGen gnomAD
CA411802050 rs1400802271	183	N>S		No	ClinGen gnomAD
CA10271439 rs761689851	184	P>R		No	ClinGen ExAC TOPMed gnomAD
rs953940569 CA324747328	186	Q>L		No	ClinGen TOPMed
rs1420613232 CA411802002	187	L>V		No	ClinGen TOPMed
rs1459456074 CA411801978 COSM283675	188	K>N	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1350975284 CA411801946	191	Q>E		No	ClinGen gnomAD
CA411801855 rs1240977694	197	C>Y		No	ClinGen gnomAD
CA411801811 rs1195453728	200	D>A		No	ClinGen gnomAD
CA411801794 rs1329726525	201	V>A		No	ClinGen TOPMed
CA411801776 rs1569224827	202	L>R		No	ClinGen Ensembl
CA411801525 rs1602181026	204	T>I		No	ClinGen Ensembl
rs755583774 CA10271411	207	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1445291459 CA411801474	208	Y>C		No	ClinGen gnomAD
rs747038769 CA10271410	210	K>Q		No	ClinGen ExAC gnomAD
rs182919779 CA324745828	212	L>M		No	ClinGen 1000Genomes
rs750591319 CA10271407	215	L>F		No	ClinGen ExAC gnomAD
rs757030006 CA10271405	216	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1602180920 CA411801362	217	Q>E		No	ClinGen Ensembl
CA411801355 rs1157747388	217	Q>L		No	ClinGen gnomAD
rs753696573 CA10271404	218	G>S		No	ClinGen ExAC gnomAD
CA10271403 rs763985490	219	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1179123967 CA411801325	220	P>S		No	ClinGen TOPMed gnomAD
CA10271402 rs370253190	221	Q>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs370253190 CA10271401	221	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA10271398 rs774039894	223	M>L		No	ClinGen ExAC gnomAD
CA324745773 rs202079767	224	E>G		No	ClinGen 1000Genomes
CA324745769 rs770147637	225	N>H		No	ClinGen Ensembl
CA10271397 rs770774273	226	M>T		No	ClinGen ExAC TOPMed gnomAD
CA411801211 rs1238063015	227	E>Q		No	ClinGen gnomAD
rs199639425 CA324745756	228	Q>H		No	ClinGen 1000Genomes
rs777187400 CA10271395	228	Q>K		No	ClinGen ExAC gnomAD
CA411801174 rs1245859335	229	V>G		No	ClinGen gnomAD
rs1385428017 CA411801181	229	V>L		No	ClinGen TOPMed
CA10271394 rs769162988	231	E>D		No	ClinGen ExAC TOPMed gnomAD
CA10271393 rs762280315	233	C>W		No	ClinGen ExAC TOPMed gnomAD
rs1297484386 CA411801118	233	C>Y		No	ClinGen TOPMed
rs1007407613 CA324745751	234	Q>L		No	ClinGen Ensembl
CA411801098 rs1396913398	235	Q>*		No	ClinGen gnomAD
rs1281268602 CA411801049	237	E>K		No	ClinGen TOPMed gnomAD
CA10271390 rs745988240	238	E>K		No	ClinGen ExAC TOPMed gnomAD
CA10271389 rs757507925	239	K>N		No	ClinGen ExAC gnomAD
CA10271387 rs369727314	240	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA324745706 rs376763673	240	R>H		No	ClinGen ESP TOPMed gnomAD
CA10271386 rs369727314	240	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767416337 CA10271384	241	L>F		No	ClinGen ExAC gnomAD
rs767416337 CA10271383	241	L>V		No	ClinGen ExAC gnomAD
rs373497696 CA10271382	242	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs751071897 CA10271381	242	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1489342287 CA411800902	245	R>Q		No	ClinGen TOPMed gnomAD
rs376903593 CA10271380	245	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA411800853 rs1286791558	248	L>M		No	ClinGen gnomAD
rs1267679503 CA411800839	249	L>P		No	ClinGen TOPMed gnomAD
rs1569218297 CA411800810	251	V>A		No	ClinGen Ensembl
CA10271377 rs369964899	251	V>I		No	ClinGen ESP ExAC gnomAD
CA10271376 rs760960785	254	H>Q		No	ClinGen ExAC gnomAD
CA10271375 rs776048389	255	L>V		No	ClinGen ExAC gnomAD
rs200427054 CA10271373	258	S>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10271371 rs371422883	259	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA10271372 rs371422883	259	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA324745645 rs1005495452	260	V>A		No	ClinGen TOPMed
CA10271369 rs371512988	261	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10271368 rs371512988	261	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781154889 CA10271366	262	G>D		No	ClinGen ExAC gnomAD
CA10271367 rs752501729	262	G>R		No	ClinGen ExAC
CA10271343 rs575305363	263	Y>F		No	ClinGen 1000Genomes ExAC gnomAD
CA10271342 rs746875375	264	K>T		No	ClinGen ExAC gnomAD
rs371865681 CA10271340	267	Y>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs369188422 CA10271337	275	R>G		No	ClinGen ESP ExAC gnomAD
CA411798758 rs1458464857	278	D>V		No	ClinGen gnomAD
rs767710408 CA10271335	279	A>V		No	ClinGen ExAC gnomAD
CA411798674 rs1602176286	282	D>A		No	ClinGen Ensembl
CA10271334 rs759909873	284	R>G		No	ClinGen ExAC gnomAD
rs774829389 CA10271333	285	W>C		No	ClinGen ExAC gnomAD
COSM1034827 CA324744648 rs1027154871	287	R>*	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
CA10271331 rs762989874	287	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10271330 rs773330027	288	A>T		No	ClinGen ExAC gnomAD
rs201372955 CA10271329	289	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748281146 CA10271328	290	H>Y		No	ClinGen ExAC gnomAD
rs768277095 CA10271326	291	G>R		No	ClinGen ExAC gnomAD
CA10271325 rs746857313	292	P>L		No	ClinGen ExAC gnomAD
VAR_013711 rs2746984 CA324744618	294	M>I		No	ClinGen UniProt Ensembl dbSNP
rs758445747 CA10271323	294	M>V		No	ClinGen ExAC gnomAD
CA411798352 rs1379038128	299	P>L		No	ClinGen TOPMed gnomAD
rs906250858 CA324744615	300	Q>R		No	ClinGen Ensembl
rs777260704 CA10271300	305	S>F		No	ClinGen ExAC gnomAD
CA10271299 rs554664272 COSM1260809	306	A>T	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA411811931 rs1477283272	307	D>H		No	ClinGen TOPMed gnomAD
rs780360286 CA10271297	309	N>D		No	ClinGen ExAC gnomAD
CA10271296 rs758769216	310	R>*		No	ClinGen ExAC TOPMed gnomAD
rs758769216 CA411811896	310	R>G		No	ClinGen ExAC TOPMed gnomAD
rs750834553 CA10271295	310	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs375617635 CA324789770	311	T>I		No	ClinGen ESP TOPMed gnomAD
rs375617635 CA411811882	311	T>N		No	ClinGen ESP TOPMed gnomAD
CA411811873 rs1236770846	312	L>R		No	ClinGen Ensembl
CA10271293 rs761791174	313	S>T		No	ClinGen ExAC TOPMed gnomAD
rs764389146 CA324789749	314	R>P		No	ClinGen ExAC gnomAD
rs764389146 CA10271291	314	R>Q		No	ClinGen ExAC gnomAD
rs370127212 CA10271292 COSM1190472	314	R>W	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA10271290 rs377024421	316	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA411811833 rs1602170403	316	E>G		No	ClinGen Ensembl
CA411811825 rs1183810001	317	K>E		No	ClinGen TOPMed gnomAD
rs775884231 CA10271289	317	K>N		No	ClinGen ExAC TOPMed gnomAD
CA411811816 rs775884231	317	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1366967701 CA411811822	317	K>T		No	ClinGen gnomAD
CA411811810 rs1439213015	318	K>R		No	ClinGen gnomAD
CA10271288 rs771924693	319	K>E		No	ClinGen ExAC TOPMed gnomAD
CA10271287 rs759434680	319	K>T		No	ClinGen ExAC TOPMed gnomAD
rs774152734 CA10271285	321	T>S		No	ClinGen ExAC gnomAD
CA10271282 rs369931296	323	G>D		No	ClinGen ESP ExAC gnomAD
CA10271283 rs201082153	323	G>S		No	ClinGen ExAC TOPMed gnomAD
rs780838692 CA10271279	324	V>A		No	ClinGen ExAC gnomAD
rs1062913 CA324789718 VAR_013712	324	V>F		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1062913 CA10271280	324	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1602170229 CA411811736	325	T>P		No	ClinGen Ensembl
rs965081114 CA324789696	327	T>K		No	ClinGen TOPMed gnomAD
rs965081114 CA411811706	327	T>M		No	ClinGen TOPMed gnomAD
CA324789689 rs868698037	328	G>D		No	ClinGen Ensembl
rs1434378543 CA411811705	328	G>S		No	ClinGen TOPMed
rs369699773 CA10271276	330	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1299266375 CA411811660 COSM445080	331	Q>H	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
rs924254137 CA324789672	332	T>I		No	ClinGen Ensembl
rs200898876 CA411811633	334	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200898876 CA10271274	334	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752956842 CA10271272	335	Q>*		No	ClinGen ExAC gnomAD
CA10271271 rs752956842	335	Q>E		No	ClinGen ExAC gnomAD
rs752956842 CA411811619	335	Q>K		No	ClinGen ExAC gnomAD
rs1402882232 CA411811616	335	Q>R		No	ClinGen gnomAD
rs767918786 CA10271270	338	P>L		No	ClinGen ExAC gnomAD
rs774251848 CA10271268	339	S>N		No	ClinGen ExAC gnomAD
CA411811544 rs1385510661	341	P>R		No	ClinGen TOPMed gnomAD
CA10271267 rs375874057	341	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs776164420 CA10271244	345	L>V		No	ClinGen ExAC gnomAD
CA411811365 rs1417246125	346	N>I		No	ClinGen gnomAD
rs898622264 CA324787739	348	P>L		No	ClinGen TOPMed gnomAD
CA411811340 rs1602166173	350	N>T		No	ClinGen Ensembl
CA10271240 rs771267957	352	A>T		No	ClinGen ExAC TOPMed gnomAD
CA10271238 rs778394647	353	Q>R		No	ClinGen ExAC gnomAD
CA324787693 rs112729941	355	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs112729941 CA10271237	355	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs546351529 CA10271236	355	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA411811301 rs1354764557	356	Q>H		No	ClinGen TOPMed gnomAD
CA10271233 rs751750388	359	S>P		No	ClinGen ExAC gnomAD
rs780201779 CA10271232	360	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1277133935 CA411811270	361	Y>C		No	ClinGen gnomAD
rs1335076232 CA411811274	361	Y>N		No	ClinGen gnomAD
CA411811266 rs1397615518	362	N>D		No	ClinGen gnomAD
CA10271230 rs750255821	362	N>K		No	ClinGen ExAC TOPMed gnomAD
rs765133604 CA10271229	363	P>S		No	ClinGen ExAC gnomAD
rs1353316171 CA411811246	365	E>K		No	ClinGen TOPMed
rs1388382431 CA411811238	366	D>N		No	ClinGen gnomAD
rs763592372 CA10271226	369	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1343060636 CA411811206	370	T>A		No	ClinGen Ensembl
CA10271225 rs760115512	370	T>M		No	ClinGen ExAC gnomAD
CA411811183 rs1476462266	373	T>I		No	ClinGen gnomAD
rs530798433 CA10271222	374	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA324787600 rs766734571	375	S>G		No	ClinGen Ensembl
rs1450405170 CA411811170	376	E>K		No	ClinGen gnomAD
rs1214739369 CA411811152	378	D>G		No	ClinGen gnomAD
rs773663758 CA10271221	378	D>Y		No	ClinGen ExAC gnomAD
rs748602959 CA10271219	379	D>N		No	ClinGen ExAC gnomAD
rs781568223 CA10271218	380	T>A		No	ClinGen ExAC TOPMed gnomAD
CA411811138 rs1270257945	380	T>N		No	ClinGen gnomAD
rs768769642 CA10271217	383	K>R		No	ClinGen ExAC gnomAD
rs777745162 CA10271188	385	V>A		No	ClinGen ExAC gnomAD
rs749103846 CA10271189	385	V>M		No	ClinGen ExAC TOPMed gnomAD
rs755958498 CA10271187	386	S>N		No	ClinGen ExAC gnomAD
rs752710905 CA10271186	387	S>G		No	ClinGen ExAC gnomAD
CA10271184 rs754553127	389	E>K		No	ClinGen ExAC TOPMed gnomAD
rs925126352 CA324787059	394	Y>C		No	ClinGen TOPMed
rs369451109 CA10271182	397	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA411811005 rs1210899834	398	W>R		No	ClinGen gnomAD
rs776906843 CA10271180	401	D>N		No	ClinGen ExAC TOPMed gnomAD
rs201678639 CA10271179	403	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1283862786 CA411810962	404	N>D		No	ClinGen gnomAD
rs1341724272 CA411810946	406	P>A		No	ClinGen TOPMed
rs1399411321 CA411810928	408	S>F		No	ClinGen gnomAD
rs1399411321 CA411810930	408	S>Y		No	ClinGen gnomAD
CA10271173 rs372279770	410	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs774549499 CA10271174	410	T>P		No	ClinGen ExAC
COSM216577 rs777391617 CA10271171	413	N>S	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs922564990 CA324787003	415	D>E		No	ClinGen TOPMed
rs747981089 CA10271170	416	S>L		No	ClinGen ExAC gnomAD
rs747981089 CA10271169	416	S>W		No	ClinGen ExAC gnomAD
CA10271166 rs531993562	420	D>N		No	ClinGen 1000Genomes ExAC TOPMed
rs564631278 CA10271164	421	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs564631278 CA411810819	421	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10271161 rs761114005	422	D>A		No	ClinGen ExAC gnomAD
rs764294309 CA10271162	422	D>N		No	ClinGen ExAC TOPMed gnomAD
rs768077406 CA324786974	423	A>S		No	ClinGen ExAC TOPMed gnomAD
rs768077406 CA10271159	423	A>T		No	ClinGen ExAC TOPMed gnomAD
rs759580382 CA10271158 COSM1196697	425	S>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs773497372 CA10271154	426	G>E		No	ClinGen ExAC gnomAD
CA10271155 rs763019917	426	G>R		No	ClinGen ExAC gnomAD
rs544964917 CA10271153	427	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10271151 rs781246635	428	E>A		No	ClinGen ExAC TOPMed gnomAD
rs768766374 CA10271150	429	V>A		No	ClinGen ExAC TOPMed gnomAD
rs768766374 CA411810729	429	V>G		No	ClinGen ExAC TOPMed gnomAD
CA411810724 rs1306538255	430	R>*		No	ClinGen TOPMed
rs1486302030 CA411810703	432	R>Q		No	ClinGen TOPMed gnomAD
rs746963305 CA10271149	432	R>W		No	ClinGen ExAC gnomAD
rs757926842 CA10271147	433	A>V		No	ClinGen ExAC TOPMed gnomAD
CA10271146 rs749982048	438	E>A		No	ClinGen ExAC gnomAD
rs1488495850 CA411810639	438	E>K		No	ClinGen TOPMed
CA10271145 rs756431066	441	E>D		No	ClinGen ExAC gnomAD
rs1052072488 CA324786881	444	E>*		No	ClinGen gnomAD
rs1274097775 CA411810509	447	F>L		No	ClinGen TOPMed gnomAD
rs752065462 CA10271140	448	K>N		No	ClinGen ExAC gnomAD
rs1000573520 CA324786846	448	K>Q		No	ClinGen Ensembl
rs759997670 CA10271141	448	K>R		No	ClinGen ExAC gnomAD
rs766312969 CA10271139	449	A>G		No	ClinGen ExAC gnomAD
CA411809906 rs1171748067	451	D>E		No	ClinGen gnomAD
CA411809901 rs1602154100	452	E>G		No	ClinGen Ensembl
rs1436495953 CA411809879	455	K>N		No	ClinGen gnomAD
CA411809875 rs1395534817	456	M>L		No	ClinGen gnomAD
CA10271110 rs773861181	457	E>D		No	ClinGen ExAC gnomAD
rs748881853 CA10271108	459	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1400256179 CA411809846	460	D>N		No	ClinGen TOPMed
COSM1416654 CA411809813 rs1483001644	464	W>*	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1006739025 CA324783193	465	C>G		No	ClinGen TOPMed
CA10271106 rs373620587	465	C>Y		No	ClinGen ESP ExAC gnomAD
CA10271105 rs747417566	466	K>T		No	ClinGen ExAC gnomAD
CA411809786 rs1349251348	468	R>C		No	ClinGen gnomAD
CA411809785 rs1285871017	468	R>H		No	ClinGen gnomAD
rs981997674 CA324783182	470	D>H		No	ClinGen TOPMed gnomAD
CA411809752 rs1602153939	473	Q>*		No	ClinGen Ensembl
rs1354343021 CA411809716	478	P>L		No	ClinGen gnomAD
CA411809690 rs1201859124	482	V>A		No	ClinGen TOPMed
CA411809693 rs1376031396	482	V>M		No	ClinGen gnomAD
rs368440149 CA10271097	484	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1244119854 CA411809670	485	I>T		No	ClinGen gnomAD
CA10271096 rs775404651	486	Q>*		No	ClinGen ExAC gnomAD

No associated diseases with Q9UNF0

5 regional properties for Q9UNF0

Type	Name	Position	InterPro Accession
domain	FCH domain	16 - 104	IPR001060
domain	SH3 domain	426 - 486	IPR001452
domain	F-BAR domain	11 - 282	IPR031160
domain	PACSIN1/PACSIN2, SH3 domain	429 - 484	IPR035743
domain	PACSIN2, F-BAR domain	18 - 275	IPR037453

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Cytoplasm, cytoskeleton Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side Early endosome Recycling endosome membrane Cell projection, ruffle membrane; Peripheral membrane protein; Cytoplasmic side Cell membrane; Peripheral membrane protein; Cytoplasmic side Cell projection Membrane, caveola	Detected at the neck of flask-shaped caveolae Localization to tubular recycling endosomes probably requires interaction with MICALL1 and EHD1
PANTHER Family	PTHR23065	PROLINE-SERINE-THREONINE PHOSPHATASE INTERACTING PROTEIN 1
PANTHER Subfamily	PTHR23065:SF14	PROTEIN KINASE C AND CASEIN KINASE SUBSTRATE IN NEURONS PROTEIN 2
PANTHER Protein Class	cytoskeletal protein actin or actin-binding cytoskeletal protein
PANTHER Pathway Category	No pathway information available

16 GO annotations of cellular component

Name	Definition
caveola	A membrane raft that forms small pit, depression, or invagination that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane. Examples include flask-shaped invaginations of the plasma membrane in adipocytes associated with caveolin proteins, and minute pits or incuppings of the cell membrane formed during pinocytosis. Caveolae may be pinched off to form free vesicles within the cytoplasm.
cell-cell junction	A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoskeleton	A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
early endosome	A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways.
endosome	A vacuole to which materials ingested by endocytosis are delivered.
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 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.
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
glutamatergic synapse	A synapse that uses glutamate as a neurotransmitter.
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.
nuclear speck	A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
recycling endosome membrane	The lipid bilayer surrounding a recycling endosome.
ruffle membrane	The portion of the plasma membrane surrounding a ruffle.

6 GO annotations of molecular function

Name	Definition
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.
cytoskeletal protein binding	Binding to a protein component of a cytoskeleton (actin, microtubule, or intermediate filament cytoskeleton).
identical protein binding	Binding to an identical protein or proteins.
phosphatidic acid binding	Binding to phosphatidic acid, any of a class of glycerol phosphate in which both the remaining hydroxyl groups of the glycerol moiety are esterified with fatty acids.
phospholipid binding	Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester.
transporter activity	Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells.

10 GO annotations of biological process

Name	Definition
actin cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
caveola assembly	The aggregation, arrangement and bonding together of a set of components to form a caveola. A caveola is a plasma membrane raft that forms a small pit, depression, or invagination that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane.
caveolin-mediated endocytosis	An endocytosis process that begins when material is taken up into plasma membrane caveolae, which then pinch off to form endocytic caveolar carriers.
cell projection morphogenesis	The process in which the anatomical structures of a cell projection are generated and organized.
cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures.
modulation of chemical synaptic transmission	Any process that modulates the frequency or amplitude of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. Amplitude, in this case, refers to the change in postsynaptic membrane potential due to a single instance of synaptic transmission.
negative regulation of endocytosis	Any process that stops, prevents, or reduces the frequency, rate or extent of endocytosis.
plasma membrane tubulation	A membrane tubulation process occurring in a plasma membrane.
protein localization to endosome	A process in which a protein is transported to, or maintained in, a location within an endosome.
regulation of endocytosis	Any process that modulates the frequency, rate or extent of endocytosis.

14 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P25623	SYP1	Suppressor of yeast profilin deletion	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
A7MBI0	PACSIN1	Protein kinase C and casein kinase substrate in neurons protein 1	Bos taurus (Bovine)	SS
O13154	PACSIN2	Protein kinase C and casein kinase substrate in neurons protein 2	Gallus gallus (Chicken)	SS
Q9UKS6	PACSIN3	Protein kinase C and casein kinase substrate in neurons protein 3	Homo sapiens (Human)	SS
Q9BY11	PACSIN1	Protein kinase C and casein kinase substrate in neurons protein 1	Homo sapiens (Human)	EV
O60861	GAS7	Growth arrest-specific protein 7	Homo sapiens (Human)	PR
Q9H939	PSTPIP2	Proline-serine-threonine phosphatase-interacting protein 2	Homo sapiens (Human)	PR
Q61644	Pacsin1	Protein kinase C and casein kinase substrate in neurons protein 1	Mus musculus (Mouse)	EV
Q99JB8	Pacsin3	Protein kinase C and casein kinase II substrate protein 3	Mus musculus (Mouse)	SS
Q9WVE8	Pacsin2	Protein kinase C and casein kinase substrate in neurons protein 2	Mus musculus (Mouse)	EV
Q99M15	Pstpip2	Proline-serine-threonine phosphatase-interacting protein 2	Mus musculus (Mouse)	PR
Q9Z0W5	Pacsin1	Protein kinase C and casein kinase substrate in neurons protein 1	Rattus norvegicus (Rat)	SS
Q9QY17	Pacsin2	Protein kinase C and casein kinase substrate in neurons 2 protein	Rattus norvegicus (Rat)	SS
Q4V920	pacsin1b	Protein kinase C and casein kinase substrate in neurons protein 1	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MSVTYDDSVG	VEVSSDSFWE	VGNYKRTVKR	IDDGHRLCSD	LMNCLHERAR	IEKAYAQQLT
70	80	90	100	110	120
EWARRWRQLV	EKGPQYGTVE	KAWMAFMSEA	ERVSELHLEV	KASLMNDDFE	KIKNWQKEAF
130	140	150	160	170	180
HKQMMGGFKE	TKEAEDGFRK	AQKPWAKKLK	EVEAAKKAHH	AACKEEKLAI	SREANSKADP
190	200	210	220	230	240
SLNPEQLKKL	QDKIEKCKQD	VLKTKEKYEK	SLKELDQGTP	QYMENMEQVF	EQCQQFEEKR
250	260	270	280	290	300
LRFFREVLLE	VQKHLDLSNV	AGYKAIYHDL	EQSIRAADAV	EDLRWFRANH	GPGMAMNWPQ
310	320	330	340	350	360
FEEWSADLNR	TLSRREKKKA	TDGVTLTGIN	QTGDQSLPSK	PSSTLNVPSN	PAQSAQSQSS
370	380	390	400	410	420
YNPFEDEDDT	GSTVSEKDDT	KAKNVSSYEK	TQSYPTDWSD	DESNNPFSST	DANGDSNPFD
430	440	450	460	470	480
DDATSGTEVR	VRALYDYEGQ	EHDELSFKAG	DELTKMEDED	EQGWCKGRLD	NGQVGLYPAN

YVEAIQ