AiPD: Autoinhibited Protein Database

Q9BY11

Gene name	PACSIN1 (KIAA1379)
Protein name	Protein kinase C and casein kinase substrate in neurons protein 1
Names	Syndapin-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:29993
EC number
Protein Class	PROLINE-SERINE-THREONINE PHOSPHATASE INTERACTING PROTEIN 1 (PTHR23065)

Descriptions

The F-BAR domain-containing protein PACSIN contributes to vesicle formation at the plasma membrane and induces a spectrum of membrane morphologies including tubules and tubular constriction. Full-length PACSIN1 has reduced activity compared to the isolated F-BAR domain. Autoinhibition is mediated by the SH3 domain interacting with the F-BAR domain in PACSIN1. The SH3 domain is able to bind the proline-rich domain (PRD) of proteins in endocytosis. The autoinhibitory, intramolecular interactions can be released upon binding to the proline-rich domain (PRD) of dynamin-1, resulting in potent membrane deformation activity.

Autoinhibitory domains (AIDs)

Target domain	19-276 (The F-BAR, FES-CIP4 Homology and Bin/Amphiphysin/Rvs, domain of Protein kinase C and Casein kinase Substrate in Neurons 1, PACSIN1)
Relief mechanism	Partner binding
Assay	Mutagenesis experiment, Structural analysis

AID

385-444 (SH3 domain)

Target domain

19-276 (The F-BAR, FES-CIP4 Homology and Bin/Amphiphysin/Rvs, domain of Protein kinase C and Casein kinase Substrate in Neurons 1, PACSIN1)

Relief mechanism

Partner binding (Interaction between the SH2 domain of PACSIN1 and the PRD domain of dynamin-1)

Assay

Mutagenesis experiment, Structural analysis

Accessory elements

No accessory elements

References

Goh SL et al. (2012) "Versatile membrane deformation potential of activated pacsin", PloS one, 7, e51628

Autoinhibited structure

Activated structure

5 structures for Q9BY11

Entry ID	Method	Resolution	Chain	Position	Source
3HAH	X-ray	277 A	A/B	1-325	PDB
3HAI	X-ray	288 A	A/B/C/D	1-308	PDB
3Q84	X-ray	280 A	A/B/G/H/M/N	14-308	PDB
3QNI	X-ray	280 A	A/B	1-307	PDB
AF-Q9BY11-F1	Predicted				AlphaFoldDB

257 variants for Q9BY11

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1369885661 CA363721451	3	S>N		No	ClinGen gnomAD
CA363721468 rs530053645	5	Y>*		No	ClinGen 1000Genomes ExAC gnomAD
rs765413972 CA3765173	6	D>N		No	ClinGen ExAC TOPMed gnomAD
CA363721480 rs1447630060	7	E>A		No	ClinGen gnomAD
rs753195520 CA3765174	8	A>T		No	ClinGen ExAC gnomAD
CA3765176 rs764380445	11	A>V		No	ClinGen ExAC TOPMed gnomAD
CA363721520 rs1458772275	14	E>K		No	ClinGen TOPMed
CA3765179 rs371420755	15	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA363721534 rs1278699323	16	T>S		No	ClinGen gnomAD
rs1325745392 CA363721594	22	V>M		No	ClinGen TOPMed
rs1276457148 CA363721607	24	N>I		No	ClinGen TOPMed
rs201901865 CA3765205	30	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1399864842 CA363721652	31	R>S		No	ClinGen TOPMed
CA363721662 rs1323902097	32	I>T		No	ClinGen gnomAD
CA3765206 rs777626361	35	G>R		No	ClinGen ExAC gnomAD
rs777626361 CA363721682	35	G>S		No	ClinGen ExAC gnomAD
CA3765207 rs746016454	36	H>Q		No	ClinGen ExAC gnomAD
CA363721707 rs1226269626	39	C>Y		No	ClinGen TOPMed gnomAD
CA363721751 rs1477753249	45	C>R		No	ClinGen TOPMed
rs1210063456 CA363721772	48	E>K		No	ClinGen gnomAD
CA363721825 rs1199462583	55	A>E		No	ClinGen gnomAD
rs749334598 CA3765210	55	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1158779425 CA363721869	61	T>S		No	ClinGen gnomAD
rs1412988101 CA363721881	63	W>*		No	ClinGen gnomAD
rs1161563472 CA363721891	64	A>D		No	ClinGen gnomAD
rs1458954185 CA363721890	64	A>S		No	ClinGen gnomAD
CA3765212 rs201041422	65	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1387903543 CA363721901	66	R>S		No	ClinGen gnomAD
rs866822764 CA137199000	70	L>I		No	ClinGen gnomAD
CA363721941 rs767708496	71	I>M		No	ClinGen ExAC TOPMed gnomAD
CA363721997 rs1266395169	77	Y>C		No	ClinGen gnomAD
CA363722014 rs1170184985	79	S>R		No	ClinGen TOPMed
CA363722024 rs1581987173	81	E>G		No	ClinGen Ensembl
CA3765240 rs758224914	82	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3765239 rs752269353	82	R>W		No	ClinGen ExAC TOPMed gnomAD
CA3765241 rs764059743	85	G>V		No	ClinGen ExAC gnomAD
CA3765242 rs769147831	86	A>T		No	ClinGen ExAC gnomAD
rs1396207577 CA363722057	87	I>V		No	ClinGen gnomAD
rs1316558110 CA363722069	88	M>I		No	ClinGen gnomAD
CA3765243 rs374966564	92	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs990630775 CA137200258	93	K>M		No	ClinGen gnomAD
CA363722109 rs1581987215	94	V>G		No	ClinGen Ensembl
rs1181206975 CA363722126	96	E>D		No	ClinGen TOPMed
CA3765245 rs753993893	97	L>M		No	ClinGen ExAC TOPMed gnomAD
CA363722729 rs1273604238	100	E>A		No	ClinGen TOPMed
rs1273604238 CA363722731	100	E>G		No	ClinGen TOPMed
CA363722742 rs1483714597	101	V>L		No	ClinGen gnomAD
rs1483714597 CA363722739	101	V>M		No	ClinGen gnomAD
rs748294686 CA3765248	103	N>Y		No	ClinGen ExAC gnomAD
rs1290770185 CA363722796	104	N>K		No	ClinGen TOPMed
CA3765249 rs192786048	104	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1464495055 CA363722799	105	L>V		No	ClinGen gnomAD
rs1361184462 CA363722818	107	N>H		No	ClinGen TOPMed
CA3765251 rs747580681	107	N>K		No	ClinGen ExAC TOPMed
CA363722855 rs771352515	109	D>A		No	ClinGen ExAC gnomAD
CA3765252 rs771352515	109	D>G		No	ClinGen ExAC gnomAD
rs1581987291 CA363722916	113	V>G		No	ClinGen Ensembl
rs868750256 CA137200356	118	K>R		No	ClinGen Ensembl
CA363723020 rs1175831321 COSM1443933	120	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs759211308 CA3765254	123	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1466273867 CA363723116	126	M>I		No	ClinGen gnomAD
CA363723156 rs1338254615	130	K>R		No	ClinGen gnomAD
CA363723171 rs769598563	132	T>K		No	ClinGen ExAC TOPMed gnomAD
rs769598563 CA3765255	132	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1054456847 CA137200395	133	K>R		No	ClinGen Ensembl
rs146300537 CA3765257	135	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs763568480 CA3765258	140	R>C		No	ClinGen ExAC gnomAD
rs1300390824 CA363723225	140	R>H		No	ClinGen TOPMed gnomAD
rs1300390824 CA363723227	140	R>L		No	ClinGen TOPMed gnomAD
rs751508946 CA3765259	142	A>T		No	ClinGen ExAC gnomAD
CA137200413 rs932143177	145	P>T		No	ClinGen Ensembl
rs761745160 CA3765260	147	A>G		No	ClinGen ExAC gnomAD
CA363723313 rs1581987381	152	E>G		No	ClinGen Ensembl
rs1249932959 CA363723309	152	E>K		No	ClinGen gnomAD
CA3765291 rs756494305	155	A>T		No	ClinGen ExAC TOPMed
CA3765292 rs780285573	155	A>V		No	ClinGen ExAC gnomAD
CA363723369 rs768217879	159	A>S		No	ClinGen ExAC gnomAD
CA3765294 rs768217879	159	A>T		No	ClinGen ExAC gnomAD
rs773810544 CA3765296	162	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1362253490 CA363723397	163	A>S		No	ClinGen gnomAD
rs541390866 CA137200841	166	E>A		No	ClinGen Ensembl
CA363723452 rs1483584375	171	M>V		No	ClinGen TOPMed gnomAD
rs199650443 CA3765298	173	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs760599834 CA3765299	174	E>K		No	ClinGen ExAC gnomAD
CA363723481 rs1180805683	175	M>T		No	ClinGen TOPMed gnomAD
CA363723511 rs1426615383	179	T>A		No	ClinGen gnomAD
CA3765302 rs138349270	179	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs138349270 CA3765303	179	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3765305 COSM1697026 rs367789718	180	E>K	skin [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs767772848 CA3765306	182	S>L		No	ClinGen ExAC TOPMed gnomAD
CA3765309 rs780419099	190	K>R		No	ClinGen ExAC TOPMed gnomAD
rs755411298 CA3765311	195	V>A		No	ClinGen ExAC TOPMed gnomAD
rs755411298 CA363723623	195	V>G		No	ClinGen ExAC TOPMed gnomAD
CA3765310 COSM1546510 rs749648335	195	V>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3765312 rs778517947	198	C>Y		No	ClinGen ExAC gnomAD
CA363723663 rs1331401029	201	D>N		No	ClinGen TOPMed
CA3765313 rs747859438	202	V>M		No	ClinGen ExAC gnomAD
rs1325171556 CA363723718	207	E>K		No	ClinGen gnomAD
rs1335523089 CA363723731	208	K>R		No	ClinGen TOPMed
CA363723742 rs1206319668	210	E>K		No	ClinGen gnomAD
CA363723759 rs1246826340	212	V>M		No	ClinGen gnomAD
rs1447567274 CA363723783	215	D>E		No	ClinGen gnomAD
rs144349186 CA137201099	216	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3765330 rs144349186	216	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1477567497 CA363723791	217	G>S		No	ClinGen gnomAD
rs758064273 CA3765331	220	T>I		No	ClinGen ExAC gnomAD
CA3765333 rs777221321	221	P>S		No	ClinGen ExAC gnomAD
rs777221321 CA3765332	221	P>T		No	ClinGen ExAC gnomAD
CA3765334 rs770520322	222	Q>L		No	ClinGen ExAC gnomAD
CA3765335 rs780974773	224	M>V		No	ClinGen ExAC gnomAD
CA3765336 rs777392982	226	N>I		No	ClinGen ExAC TOPMed gnomAD
CA137201105 rs765859064	229	Q>K		No	ClinGen Ensembl
CA363723880 rs1402991074	230	V>M		No	ClinGen TOPMed gnomAD
CA363723915 rs1391244976	234	C>Y		No	ClinGen TOPMed
rs1170650074 CA363723938	237	F>C		No	ClinGen TOPMed
CA137201110 rs555527565	239	E>G		No	ClinGen 1000Genomes
rs1330940846 CA363723957	240	K>Q		No	ClinGen gnomAD
rs762077663 CA3765339	241	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs775438498 CA3765338	241	R>W		No	ClinGen ExAC TOPMed gnomAD
CA363723977 rs1581988155	243	V>G		No	ClinGen Ensembl
rs1444235099 CA363723981	244	F>V		No	ClinGen TOPMed
rs148761372 CA3765342	245	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA363723989 rs1266988562	245	L>H		No	ClinGen gnomAD
CA3765343 rs766539104	246	K>R		No	ClinGen ExAC gnomAD
CA363724010 rs1581988175	248	V>G		No	ClinGen Ensembl
CA3765344 rs754299367	248	V>M		No	ClinGen ExAC TOPMed gnomAD
CA3765348 rs758799535	254	R>Q		No	ClinGen ExAC gnomAD
CA3765347 rs753089145	254	R>W		No	ClinGen ExAC TOPMed gnomAD
rs912122420 CA137201164	256	L>F		No	ClinGen Ensembl
rs574267986 CA3765350	257	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3765352 rs544514565	259	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA363724127 rs1417213033	264	Y>F		No	ClinGen TOPMed
rs1171590394 CA363724139	266	H>P		No	ClinGen gnomAD
CA3765367 rs751104600	266	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA363724156 rs756946649	268	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA3765369 rs571430239	269	R>C		No	ClinGen 1000Genomes ExAC gnomAD
rs571430239 CA3765370	269	R>G		No	ClinGen 1000Genomes ExAC gnomAD
CA363724159 rs1170437648	269	R>H		No	ClinGen TOPMed gnomAD
rs1452745537 CA363724184	273	Q>E		No	ClinGen gnomAD
CA137201580 rs957968830	273	Q>R		No	ClinGen TOPMed
CA363724194 rs1238543051	274	A>V		No	ClinGen TOPMed
rs200604835 CA3765372	275	I>M		No	ClinGen 1000Genomes ExAC gnomAD
rs930795813 CA137201610	276	R>P		No	ClinGen TOPMed gnomAD
rs930795813 CA363724205	276	R>Q		No	ClinGen TOPMed gnomAD
rs1381527663 CA363724203	276	R>W		No	ClinGen TOPMed gnomAD
rs754817179 CA3765375	278	A>T		No	ClinGen ExAC TOPMed gnomAD
rs13200925 CA137201641	283	D>N		No	ClinGen Ensembl
CA363724279 rs1324461326	287	F>I		No	ClinGen gnomAD
rs778776415 CA3765376	288	R>H		No	ClinGen ExAC TOPMed gnomAD
CA363724308 rs1187578918	291	S>N		No	ClinGen TOPMed gnomAD
rs1264376168 CA363724318	293	P>T		No	ClinGen TOPMed gnomAD
rs769917884 CA3765381	294	G>D		No	ClinGen ExAC gnomAD
CA3765380 rs757626187	294	G>S		No	ClinGen ExAC TOPMed gnomAD
rs775968458 CA3765382	295	M>T		No	ClinGen ExAC TOPMed gnomAD
CA137201722 rs765346490	295	M>V		No	ClinGen Ensembl
CA3765383 rs140400194	297	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA363724354 rs1045726672	298	N>K		No	ClinGen gnomAD
rs372494026 CA3765384	298	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA363724357 rs1289363247	299	W>R		No	ClinGen gnomAD
CA137201772 rs903175484	300	P>S		No	ClinGen Ensembl
CA137202013 rs778528359	304	E>D		No	ClinGen ExAC TOPMed gnomAD
CA3765399 rs778528359	304	E>D		No	ClinGen ExAC TOPMed gnomAD
CA363724426 rs1372248546	306	N>S		No	ClinGen TOPMed
CA363724437 rs1346929840	308	D>Y		No	ClinGen gnomAD
CA3765400 rs748010524	310	P>L		No	ClinGen ExAC gnomAD
rs758173677 CA3765401	312	T>N		No	ClinGen ExAC gnomAD
CA363724474 rs1407063041	314	T>A		No	ClinGen gnomAD
rs186337030 CA3765402	314	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1224408869 CA363724499	317	E>V		No	ClinGen gnomAD
CA363724516 rs1457104507	319	Q>H		No	ClinGen TOPMed
rs886492215 CA137202080	325	G>E		No	ClinGen TOPMed
CA137202074 rs267600990	325	G>R		No	ClinGen Ensembl
rs746153140 CA3765403	326	V>M		No	ClinGen ExAC gnomAD
rs144246857 CA3765404	327	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA3765405 rs144246857	327	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1203384752 CA363724569	328	L>Q		No	ClinGen gnomAD
rs1480086662 CA363724583	330	N>S		No	ClinGen TOPMed gnomAD
CA363724601 rs1409506902	333	G>E		No	ClinGen gnomAD
rs41312309 CA3765407 VAR_053554	334	A>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3765409 rs376478993	337	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA363724633 rs1426328376	338	T>I		No	ClinGen gnomAD
rs1190771696 CA363724635	339	S>T		No	ClinGen TOPMed
rs1354196685 CA363724649	341	A>P		No	ClinGen gnomAD
CA3765411 rs772996910	343	D>N		No	ClinGen ExAC gnomAD
rs879193247 CA137202138	344	R>C		No	ClinGen TOPMed gnomAD
CA137202141 rs199727996	344	R>H		No	ClinGen 1000Genomes TOPMed gnomAD
CA363724670 rs199727996	344	R>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs765933304 CA3765413	345	G>S		No	ClinGen ExAC TOPMed gnomAD
rs573956464 CA3765414	346	S>C		No	ClinGen 1000Genomes ExAC gnomAD
CA3765434 rs367698111	348	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA137203056 rs965970217	348	S>T		No	ClinGen Ensembl
CA3765435 rs149949488	350	Y>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs990273980 CA137203097	352	R>K		No	ClinGen TOPMed gnomAD
rs1204422620 CA363724737	353	G>S		No	ClinGen TOPMed gnomAD
rs751385667 CA3765437	355	P>L		No	ClinGen ExAC gnomAD
rs1273398356 CA363724753	355	P>S		No	ClinGen gnomAD
rs984961488 CA137203120	359	E>D		No	ClinGen Ensembl
rs1283413633 CA363724778	359	E>K		No	ClinGen TOPMed gnomAD
rs1283413633 CA363724777	359	E>Q		No	ClinGen TOPMed gnomAD
rs868122304 CA137203128	364	E>K		No	ClinGen gnomAD
rs778863941 CA3765443	367	N>I		No	ClinGen ExAC TOPMed gnomAD
rs1160329218 CA363724847	368	P>L		No	ClinGen TOPMed
CA363724876 rs1480258129	373	E>K		No	ClinGen gnomAD
CA363724886 rs1431619310	374	T>N		No	ClinGen gnomAD
rs377324813 CA137203140	374	T>S		No	ClinGen gnomAD
rs149094256 CA3765445	375	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA363724902 rs778245556	377	G>R		No	ClinGen ExAC gnomAD
CA3765446 rs778245556	377	G>S		No	ClinGen ExAC gnomAD
CA363724909 rs1386348550	378	A>T		No	ClinGen gnomAD
CA3765447 rs747349928	378	A>V		No	ClinGen ExAC gnomAD
CA3765448 rs144753141	379	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144753141 CA3765449	379	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA137203156 rs907420222	379	N>S		No	ClinGen TOPMed
CA137203169 rs1053350284	380	P>T		No	ClinGen Ensembl
rs769288368 CA3765451	382	E>D		No	ClinGen ExAC TOPMed gnomAD
rs774883430 CA3765452	383	D>E		No	ClinGen ExAC TOPMed gnomAD
CA3765453 rs373593502	384	D>N		No	ClinGen ESP ExAC gnomAD
rs763987402 CA3765454	385	S>C		No	ClinGen ExAC
rs1236295715 CA363724960	386	K>R		No	ClinGen gnomAD
rs774321014 CA3765455	388	V>A		No	ClinGen ExAC TOPMed gnomAD
CA363724970 rs1278395545	388	V>L		No	ClinGen gnomAD
rs767367808 CA363724978 COSM451332	389	R>H	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs767367808 CA3765457	389	R>L		No	ClinGen ExAC gnomAD
CA3765459 rs755171219	390	V>L		No	ClinGen ExAC gnomAD
rs1436249676 CA363724990	392	A>T		No	ClinGen gnomAD
CA363725006 rs1327365728	394	Y>C		No	ClinGen TOPMed
rs1385065567 CA363725035	398	G>R		No	ClinGen gnomAD
rs1385065567 CA363725034	398	G>S		No	ClinGen gnomAD
CA3765463 rs778406832	401	Q>P		No	ClinGen ExAC gnomAD
rs1376288018 CA363725069	402	D>E		No	ClinGen TOPMed
rs1392458504 CA363725064	402	D>H		No	ClinGen TOPMed gnomAD
CA363725076 rs1175558127	403	E>V		No	ClinGen TOPMed
rs1454889217 CA363725113	408	A>D		No	ClinGen TOPMed
CA3765465 rs747581004	408	A>T		No	ClinGen ExAC gnomAD
CA363725114 COSM375340 rs1396927444	409	G>R	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs865775155 CA137203887	409	G>V		No	ClinGen Ensembl
CA137203893 rs1035752345	410	D>E		No	ClinGen TOPMed gnomAD
COSM1078232 CA137203912 rs868413864	411	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
CA137203936 rs868089125	417	E>*		No	ClinGen Ensembl
rs942844823 CA137203946	417	E>V		No	ClinGen Ensembl
CA137203948 rs868399968	418	E>D		No	ClinGen Ensembl
CA363725239 rs867115034	425	R>H		No	ClinGen gnomAD
CA137203978 rs867115034	425	R>L		No	ClinGen gnomAD
rs1478568071 CA363725244	426	G>E		No	ClinGen gnomAD
CA137203993 rs867710390	427	R>L		No	ClinGen Ensembl
rs1470300611 CA363725263	429	D>E		No	ClinGen gnomAD
rs1404677374 CA363725257	429	D>N		No	ClinGen gnomAD
rs753017087 CA3765482	430	S>N		No	ClinGen ExAC TOPMed gnomAD
rs758543656 CA137204010	430	S>R		No	ClinGen ExAC gnomAD
rs867574439 CA137204057	431	G>R		No	ClinGen Ensembl
rs1381444696 CA363725274	431	G>V		No	ClinGen gnomAD
CA363725279 rs1295967887	432	Q>R		No	ClinGen gnomAD
CA363725288 rs1342668677	434	G>S		No	ClinGen gnomAD
rs1581990368 CA363725303	436	Y>S		No	ClinGen Ensembl
rs866265966 CA137204074	437	P>H		No	ClinGen Ensembl
rs1178000218 CA363725349	443	A>T		No	ClinGen TOPMed
rs1324361586 CA363725361	444	I>M		No	ClinGen gnomAD

No associated diseases with Q9BY11

5 regional properties for Q9BY11

Type	Name	Position	InterPro Accession
domain	FCH domain	17 - 105	IPR001060
domain	SH3 domain	385 - 444	IPR001452
domain	F-BAR domain	13 - 283	IPR031160
domain	PACSIN1/PACSIN2, SH3 domain	388 - 443	IPR035743
domain	PACSIN1, F-BAR	19 - 276	IPR037454

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Cell projection Synapse, synaptosome Cell projection, ruffle membrane Membrane; Peripheral membrane protein Cytoplasmic vesicle membrane ; Peripheral membrane protein Synapse Cytoplasm, cytosol Cell membrane ; Peripheral membrane protein ; Cytoplasmic side	Colocalizes with MAPT in axons In primary neuronal cultures, present at a high level in presynaptic nerve terminals and in the cell body Colocalizes with DNM1 at vesicular structures in the cell body and neurites (By similarity) Associates with membranes via its F-BAR domain
PANTHER Family	PTHR23065	PROLINE-SERINE-THREONINE PHOSPHATASE INTERACTING PROTEIN 1
PANTHER Subfamily	PTHR23065:SF16	PROTEIN KINASE C AND CASEIN KINASE SUBSTRATE IN NEURONS PROTEIN 1
PANTHER Protein Class	cytoskeletal protein actin or actin-binding cytoskeletal protein
PANTHER Pathway Category	Huntington disease PACSIN-1

12 GO annotations of cellular component

Name	Definition
axon terminus	Terminal inflated portion of the axon, containing the specialized apparatus necessary to release neurotransmitters. The axon terminus is considered to be the whole region of thickening and the terminal button is a specialized region of it.
COPI-coated vesicle	A vesicle with a coat formed of the COPI coat complex proteins. COPI-coated vesicles are found associated with Golgi membranes at steady state, are involved in Golgi to endoplasmic reticulum (retrograde) vesicle transport, and possibly also in intra-Golgi transport.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.
endosome	A vacuole to which materials ingested by endocytosis are delivered.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
photoreceptor ribbon synapse	A ribbon synapse between a retinal photoreceptor cell (rod or cone) and a retinal bipolar cell. These contain a plate-like synaptic ribbon.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
presynaptic endocytic zone	A specialized region of the plasma membrane and underlying cytoplasm which surround the the active zone, into which synaptic vesicle membranes are recycled following exocytosis. It is especially enriched in endocytic proteins following intense activity.
ruffle membrane	The portion of the plasma membrane surrounding a ruffle.
synapse	The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane.

3 GO annotations of molecular function

Name	Definition
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.
phospholipid binding	Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester.

10 GO annotations of biological process

Name	Definition
actin filament 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. Includes processes that control the spatial distribution of actin filaments, such as organizing filaments into meshworks, bundles, or other structures, as by cross-linking.
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.
negative regulation of endocytosis	Any process that stops, prevents, or reduces the frequency, rate or extent of endocytosis.
neuron projection morphogenesis	The process in which the anatomical structures of a neuron projection are generated and organized. A neuron projection is any process extending from a neural cell, such as axons or dendrites.
plasma membrane tubulation	A membrane tubulation process occurring in a plasma membrane.
positive regulation of dendrite development	Any process that activates or increases the frequency, rate or extent of dendrite development.
protein localization to membrane	A process in which a protein is transported to, or maintained in, a specific location in a membrane.
protein localization to plasma membrane	A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane.
regulation of endocytosis	Any process that modulates the frequency, rate or extent of endocytosis.
synaptic vesicle endocytosis	A vesicle-mediated transport process, in which the synaptic vesicle membrane constituents are retrieved from the presynaptic membrane on the axon terminal after neurotransmitter secretion by exocytosis. Synaptic vesicle endocytosis can occur via clathrin-dependent and clathrin-independent mechanisms.

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
Q9UNF0	PACSIN2	Protein kinase C and casein kinase substrate in neurons protein 2	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
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
Q61644	Pacsin1	Protein kinase C and casein kinase substrate in neurons protein 1	Mus musculus (Mouse)	EV
Q99M15	Pstpip2	Proline-serine-threonine phosphatase-interacting protein 2	Mus musculus (Mouse)	PR
Q9QY17	Pacsin2	Protein kinase C and casein kinase substrate in neurons 2 protein	Rattus norvegicus (Rat)	SS
Q9Z0W5	Pacsin1	Protein kinase C and casein kinase substrate in neurons protein 1	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
MSSSYDEASL	APEETTDSFW	EVGNYKRTVK	RIDDGHRLCN	DLMNCVQERA	KIEKAYGQQL
70	80	90	100	110	120
TDWAKRWRQL	IEKGPQYGSL	ERAWGAIMTE	ADKVSELHQE	VKNNLLNEDL	EKVKNWQKDA
130	140	150	160	170	180
YHKQIMGGFK	ETKEAEDGFR	KAQKPWAKKM	KELEAAKKAY	HLACKEEKLA	MTREMNSKTE
190	200	210	220	230	240
QSVTPEQQKK	LQDKVDKCKQ	DVQKTQEKYE	KVLEDVGKTT	PQYMENMEQV	FEQCQQFEEK
250	260	270	280	290	300
RLVFLKEVLL	DIKRHLNLAE	NSSYIHVYRE	LEQAIRGADA	QEDLRWFRST	SGPGMPMNWP
310	320	330	340	350	360
QFEEWNPDLP	HTTTKKEKQP	KKAEGVALTN	ATGAVESTSQ	AGDRGSVSSY	DRGQPYATEW
370	380	390	400	410	420
SDDESGNPFG	GSETNGGANP	FEDDSKGVRV	RALYDYDGQE	QDELSFKAGD	ELTKLGEEDE
430	440
QGWCRGRLDS	GQLGLYPANY	VEAI