AiPD: Autoinhibited Protein Database

Q5T0N5

Gene name	FNBP1L (C1orf39, TOCA1)
Protein name	Formin-binding protein 1-like
Names	Transducer of Cdc42-dependent actin assembly protein 1, Toca-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:54874
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

257-339 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

257-339 (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

1 structures for Q5T0N5

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q5T0N5-F1	Predicted				AlphaFoldDB

363 variants for Q5T0N5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA341253938 rs1355441903	12	D>N		No	ClinGen gnomAD
rs765298095 CA954893	13	S>N		No	ClinGen ExAC gnomAD
rs375795029 CA954894	15	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs778035793 CA954896	16	K>E		No	ClinGen ExAC gnomAD
rs757565874 CA954898	18	T>A		No	ClinGen ExAC gnomAD
CA26823510 rs983054561	22	I>T		No	ClinGen TOPMed gnomAD
CA341254140 rs769246282	24	F>I		No	ClinGen ExAC gnomAD
rs769246282 CA954901	24	F>V		No	ClinGen ExAC gnomAD
CA341254191 rs1230810674	27	R>G		No	ClinGen gnomAD
rs1199524519 CA341254271	30	K>R		No	ClinGen gnomAD
CA341254334 rs1479762180	33	K>R		No	ClinGen gnomAD
rs1172477338 CA341254405	36	I>L		No	ClinGen gnomAD
TCGA novel	37	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341254478 rs1397725232	38	I>T		No	ClinGen gnomAD
CA341254517 rs1411987917	39	E>*		No	ClinGen gnomAD
rs1327182564 CA341254591	40	Q>H		No	ClinGen gnomAD
TCGA novel	41	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1370191597 CA341254610	41	N>S		No	ClinGen gnomAD
rs768331923 CA954904	43	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1231040440 CA341254758	46	L>F		No	ClinGen gnomAD
rs1316119855 CA341254756	46	L>S		No	ClinGen TOPMed
rs1274166776 CA341254776	47	R>*		No	ClinGen gnomAD
TCGA novel	49	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA954925 rs778711202	49	L>V		No	ClinGen ExAC gnomAD
CA341246884 rs1191621884	52	K>R		No	ClinGen gnomAD
CA341246901 rs1445601541	53	Y>F		No	ClinGen gnomAD
CA26788940 rs868644549	54	C>F		No	ClinGen Ensembl
CA341246908 rs1371735653	54	C>R		No	ClinGen TOPMed
rs991512677 CA26788941	55	P>A		No	ClinGen TOPMed
CA341246928 rs1457542614	55	P>R		No	ClinGen gnomAD
rs747741885 CA954926	57	R>C		No	ClinGen ExAC gnomAD
CA954927 rs772047336	57	R>H		No	ClinGen ExAC gnomAD
CA341246952 rs772047336	57	R>L		No	ClinGen ExAC gnomAD
rs763100584 CA954932	61	D>G		No	ClinGen ExAC gnomAD
CA341247013 rs1430120241	64	P>L		No	ClinGen TOPMed
CA341247016 rs1243553426	65	R>Q		No	ClinGen gnomAD
CA954934 rs774614978 COSM465104 COSM1134954	65	R>W	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA341247192 rs1337081112	70	V>A		No	ClinGen gnomAD
CA26789214 rs1032018099	70	V>I		No	ClinGen TOPMed gnomAD
CA341247188 rs1032018099	70	V>L		No	ClinGen TOPMed gnomAD
rs748660862	73	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs766939416 CA954942	73	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1343621333 CA341247473	74	N>S		No	ClinGen TOPMed
CA954943 rs754229821	75	I>N		No	ClinGen ExAC gnomAD
rs754229821 CA341247481	75	I>T		No	ClinGen ExAC gnomAD
CA341247489 rs1324908412	76	L>P		No	ClinGen gnomAD
rs1206078628 CA341247494	77	N>S		No	ClinGen gnomAD
TCGA novel	78	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA954944 rs754527285	80	N>S		No	ClinGen ExAC gnomAD
CA341247536 rs1196662230	83	A>T		No	ClinGen gnomAD
CA341247558 rs1557808921	86	R>Q		No	ClinGen Ensembl
TCGA novel	87	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1181574559 CA341247574	88	V>A		No	ClinGen gnomAD
rs1480743130 CA341247603	93	M>V		No	ClinGen gnomAD
rs779110197 CA341247615	94	A>G		No	ClinGen ExAC TOPMed gnomAD
CA954946 rs199630728	94	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs779110197 CA954947	94	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1337592241 CA341247620	95	H>R		No	ClinGen gnomAD
rs1298463587 CA341247617	95	H>Y		No	ClinGen gnomAD
rs746855705 CA954949	97	V>M		No	ClinGen ExAC gnomAD
rs1306904302 CA341247641	98	Y>C		No	ClinGen gnomAD
CA341247691 rs1225943238	103	R>I		No	ClinGen gnomAD
CA26789234 rs577720157	104	Y>C		No	ClinGen Ensembl
rs1299806096 CA341247705	104	Y>H		No	ClinGen gnomAD
CA341247720 rs1228621273	105	A>T		No	ClinGen gnomAD
rs1253391067 CA341247734	106	H>Y		No	ClinGen gnomAD
CA341247749 rs1482211969	107	D>Y		No	ClinGen gnomAD
CA954953 rs377240504	108	L>M		No	ClinGen ExAC TOPMed gnomAD
CA954955 rs762072129	112	R>T		No	ClinGen ExAC gnomAD
CA954967 rs150379851	115	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs969420380 CA26789425	115	H>Y		No	ClinGen TOPMed gnomAD
TCGA novel	118	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA26789431 rs973762227	120	R>*		No	ClinGen TOPMed
CA341248842 rs1385479227	120	R>Q		No	ClinGen gnomAD
rs1162120747 CA341248889	123	Q>R		No	ClinGen gnomAD
rs556072918 CA954969	125	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
CA341248983 rs1434830750	127	D>E		No	ClinGen TOPMed gnomAD
CA954972 rs780845896	128	M>I		No	ClinGen ExAC gnomAD
rs745858363	135	N>=	Variant assessed as Somatic; 0.00183 impact. [NCI-TCGA]	No	NCI-TCGA
rs967792664 CA26791847	138	K>R		No	ClinGen TOPMed
rs1447883337 CA341250868	144	C>Y		No	ClinGen TOPMed
rs865787649 CA26791855	146	E>*		No	ClinGen Ensembl
CA26791860 rs868250839	147	A>S		No	ClinGen Ensembl
CA954983 rs765880326	152	Q>*		No	ClinGen ExAC gnomAD
TCGA novel	152	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA954984 rs753192130	153	S>N		No	ClinGen ExAC TOPMed gnomAD
CA341251042 rs753192130	153	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1286470579 CA341251062	155	E>K		No	ClinGen gnomAD
CA341251094 rs1227672961	158	D>G		No	ClinGen gnomAD
rs763501140 CA954986	158	D>N		No	ClinGen ExAC gnomAD
rs1570851937 CA341251100	159	N>D		No	ClinGen Ensembl
rs977875228 CA26791897	161	T>I		No	ClinGen TOPMed gnomAD
rs977875228 CA341251118	161	T>S		No	ClinGen TOPMed gnomAD
rs1001627887 CA26791909	166	A>T		No	ClinGen TOPMed gnomAD
rs1348783756 CA341251164	168	V>A		No	ClinGen gnomAD
rs1236535821 CA341251160	168	V>I		No	ClinGen gnomAD
rs1480720351 CA341251167	169	E>Q		No	ClinGen gnomAD
CA341251271 rs1482433450	171	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1200860934 CA341251338	176	N>S		No	ClinGen gnomAD
CA954999 rs771032500	178	R>C		No	ClinGen ExAC gnomAD
rs1420620030 CA341251363	178	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs369400637 CA955000	179	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1405628703 CA341251399	181	M>T		No	ClinGen TOPMed gnomAD
CA341251394 rs1370095572	181	M>V		No	ClinGen gnomAD
rs763551179 CA955004	183	D>N		No	ClinGen ExAC gnomAD
rs1230234551 CA341251567	192	Q>R		No	ClinGen gnomAD
CA341251632 rs1268346283	195	N>H		No	ClinGen TOPMed
CA341251738 rs1481842629	198	G>R		No	ClinGen gnomAD
CA341251759 rs1224226522	199	E>K		No	ClinGen gnomAD
CA26792609 rs546429949	206	V>I		No	ClinGen TOPMed gnomAD
rs1243107659 CA341252053	208	I>V		No	ClinGen gnomAD
rs1228413588 CA341252112	209	P>A		No	ClinGen TOPMed
rs1283015959 CA341252167	210	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA341252122 rs1186986790	210	Q>K		No	ClinGen TOPMed gnomAD
CA955009 rs750010250	211	I>L		No	ClinGen ExAC gnomAD
rs935093765 CA26792636	212	Y>C		No	ClinGen Ensembl
CA26793902 rs938038511	217	E>D		No	ClinGen TOPMed
rs756193665 CA955027	220	E>K		No	ClinGen ExAC gnomAD
CA341253440 rs756193665	220	E>Q		No	ClinGen ExAC gnomAD
CA26793916 rs185227108	221	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA gnomAD
rs760314460 CA955028	221	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA26793923 rs143226457	223	T>A		No	ClinGen 1000Genomes
CA955029 rs766200009	223	T>S		No	ClinGen ExAC gnomAD
CA955031 rs374671121	224	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1327492218 CA341253530	224	I>N		No	ClinGen TOPMed gnomAD
CA955030 rs374671121	224	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA955033 rs531482489	227	S>R		No	ClinGen 1000Genomes ExAC gnomAD
rs777591453 CA26793937	229	C>Y		No	ClinGen Ensembl
CA341253635 rs550084998	232	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs550084998 CA955034	232	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1202466074 CA341253641	233	F>S		No	ClinGen TOPMed gnomAD
TCGA novel	234	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370837605 CA955037	238	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA955038 rs756385190 COSM1503879 COSM1503880	238	R>H	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA955039 rs780375202	239	K>R		No	ClinGen ExAC TOPMed gnomAD
CA955041 rs768998180	242	P>A		No	ClinGen ExAC gnomAD
rs1199521972 CA341253738	248	L>V		No	ClinGen TOPMed
rs771547672 CA955044	253	L>I		No	ClinGen ExAC gnomAD
CA955045 rs772674673	256	K>E		No	ClinGen ExAC TOPMed gnomAD
CA955046 rs760367327	259	D>A		No	ClinGen ExAC gnomAD
rs1288262639 CA341253821	260	E>G		No	ClinGen gnomAD
COSM350138 rs200518030 CA955047	260	E>K	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1265073214 CA341254508	264	S>C		No	ClinGen gnomAD
rs866960496 CA26795139	266	M>I		No	ClinGen Ensembl
CA341254652 rs1453567796	268	V>I		No	ClinGen gnomAD
rs929148913 CA26795143	270	S>F		No	ClinGen TOPMed
rs748641273 CA955064	277	P>R		No	ClinGen ExAC gnomAD
CA341254850 rs1188890368	277	P>T		No	ClinGen gnomAD
rs867504673 CA26795153	278	P>T		No	ClinGen Ensembl
rs1199269929 CA341254868	279	G>R		No	ClinGen TOPMed
rs576466272 CA955065	281	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs373661130 CA955070	289	H>L		No	ClinGen ESP ExAC gnomAD
CA955069 rs770373855	289	H>N		No	ClinGen ExAC gnomAD
CA341255027 rs373661130	289	H>R		No	ClinGen ESP ExAC gnomAD
CA955068 rs770373855	289	H>Y		No	ClinGen ExAC gnomAD
CA955071 rs769520098	290	I>V		No	ClinGen ExAC gnomAD
CA341255082 rs1242512195	291	Y>C		No	ClinGen TOPMed
rs1300204698 CA341255161	294	I>T		No	ClinGen gnomAD
rs1363319897 CA341255181	295	S>C		No	ClinGen TOPMed gnomAD
rs1363319897 CA341255179	295	S>Y		No	ClinGen TOPMed gnomAD
CA955072 rs367764338	296	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1313587926 CA341255204	296	D>V		No	ClinGen gnomAD
rs1263611996 CA341255241	299	I>F		No	ClinGen TOPMed gnomAD
CA341255237 rs1263611996	299	I>V		No	ClinGen TOPMed gnomAD
CA341255288 rs1342365322	301	A>T		No	ClinGen TOPMed
CA955074 rs372656799	303	K>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs372656799 CA26795173	303	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs201882774 CA955075	304	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA341255354 rs1249621050	305	E>K		No	ClinGen gnomAD
CA341255352 rs1249621050	305	E>Q		No	ClinGen gnomAD
CA955077 rs766553618	306	S>C		No	ClinGen ExAC gnomAD
CA955078 rs754072630	306	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1162014137 CA341255464	310	D>G		No	ClinGen gnomAD
CA341255465 rs1162014137	310	D>V		No	ClinGen gnomAD
rs1417796229 CA341255470	311	A>T		No	ClinGen gnomAD
rs1458186983 CA341255495	312	K>R		No	ClinGen gnomAD
rs1021219358 CA26795194	314	T>A		No	ClinGen gnomAD
rs1386877812 CA341255546	315	V>I		No	ClinGen gnomAD
rs1434713951 CA341255593	317	K>E		No	ClinGen gnomAD
rs779191301 CA955080	318	A>V		No	ClinGen ExAC gnomAD
rs371983971 CA26795201	319	K>E		No	ClinGen ESP TOPMed gnomAD
CA26795204 rs753125613	319	K>N		No	ClinGen ExAC TOPMed gnomAD
CA341255704 rs1557815493	321	K>T		No	ClinGen Ensembl
CA26795220 rs968174504	330	K>R		No	ClinGen Ensembl
rs878946626 CA26796213	333	S>C		No	ClinGen Ensembl
CA26796217 rs866258180	334	P>L		No	ClinGen Ensembl
CA955096 rs766604803	335	P>S		No	ClinGen ExAC gnomAD
rs534976924 CA26796229	337	T>I		No	ClinGen 1000Genomes TOPMed gnomAD
rs534976924 CA341256533	337	T>N		No	ClinGen 1000Genomes TOPMed gnomAD
CA341256540 rs1305487709	338	P>S		No	ClinGen TOPMed
rs992790743 CA26796241	339	T>A		No	ClinGen TOPMed gnomAD
CA955097 rs776748363	343	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1207553123 CA341256630	343	T>R		No	ClinGen gnomAD
CA26796248 rs868048774	344	S>F		No	ClinGen gnomAD
rs1483092817 CA341256638	345	S>G		No	ClinGen gnomAD
CA341256670 rs1183625571	349	G>V		No	ClinGen gnomAD
rs759482116 CA955098	350	S>F		No	ClinGen ExAC gnomAD
rs1349689788 CA341256691	352	F>L		No	ClinGen TOPMed
CA341256722 rs1192168194	357	I>T		No	ClinGen gnomAD
rs1470028227 CA341256719	357	I>V		No	ClinGen gnomAD
CA26796268 rs948721458	360	V>L		No	ClinGen TOPMed gnomAD
COSM913401 rs948721458 CA341256739	360	V>M	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA341256749 rs1371318425	361	H>L		No	ClinGen gnomAD
CA955100 rs752791887	363	C>Y		No	ClinGen ExAC gnomAD
rs1557816382 CA341256771	364	M>T		No	ClinGen Ensembl
rs1306199913 CA341256768	364	M>V		No	ClinGen gnomAD
rs926540461 CA26796287	371	K>N		No	ClinGen TOPMed gnomAD
rs980239867 CA26796292	379	S>N		No	ClinGen TOPMed
CA341256890 rs1275268768	381	K>R		No	ClinGen gnomAD
CA955102 rs764441805	385	S>L		No	ClinGen ExAC gnomAD
CA341258607 rs1391034005	388	M>T		No	ClinGen gnomAD
CA341258855 rs1372369611	389	G>V		No	ClinGen gnomAD
rs1473085468 CA341258861	390	P>S		No	ClinGen gnomAD
rs1459981546 CA341258973	397	H>Q		No	ClinGen gnomAD
rs759663414 CA955115	399	P>S		No	ClinGen ExAC gnomAD
rs765169085 CA955116	402	Q>R		No	ClinGen ExAC gnomAD
CA955117 rs775850567	404	R>C		No	ClinGen ExAC gnomAD
rs763133491 CA955118	404	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1246147121 CA341259182	406	K>N		No	ClinGen gnomAD
rs1331988056 CA341259269	410	R>C		No	ClinGen gnomAD
CA341259267 rs1331988056	410	R>G		No	ClinGen gnomAD
CA341259276 rs1232181306	410	R>H	Variant assessed as Somatic; 4.646e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA341259272 rs1232181306	410	R>L		No	ClinGen gnomAD
CA955119 rs559479254	411	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA341259343 rs1227493612	412	D>A		No	ClinGen gnomAD
rs1330782939 CA341259348	412	D>E		No	ClinGen gnomAD
rs751946475 CA955120	413	E>*		No	ClinGen ExAC gnomAD
CA341259391 rs1260764231	414	L>F		No	ClinGen gnomAD
rs1442841721 CA341259573	421	E>K		No	ClinGen TOPMed gnomAD
CA955142 rs751004927	426	D>H		No	ClinGen ExAC
rs967283504 CA26802800	428	L>V		No	ClinGen TOPMed
TCGA novel	430	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1174689432 CA341260436	431	M>I		No	ClinGen TOPMed gnomAD
CA955146 rs376302703	432	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA955148 rs370356527	437	K>R		No	ClinGen ESP ExAC gnomAD
rs1389212240 CA341260608	438	N>H		No	ClinGen gnomAD
rs1431927531 CA341260635	439	P>S		No	ClinGen TOPMed gnomAD
CA341260859 rs1331342104	450	K>E		No	ClinGen gnomAD
rs772153278 CA341260893	452	A>S		No	ClinGen TOPMed gnomAD
rs772153278 CA26802819	452	A>T		No	ClinGen TOPMed gnomAD
CA955150 rs559782162	454	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA341260945 rs1184882628	455	M>I		No	ClinGen TOPMed
CA341260934 rs1175933987	455	M>V		No	ClinGen gnomAD
CA341260981 rs1300976000	459	D>G		No	ClinGen gnomAD
CA955151 rs200713243	460	R>H		No	ClinGen ExAC TOPMed gnomAD
rs777402212 CA341260996	462	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA341260998 rs530453809	462	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA955153 rs530453809	462	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1309330256 CA341261001	463	M>L		No	ClinGen gnomAD
CA955155 rs199677189	466	H>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA955154 rs199677189	466	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs956356456 CA26802854	467	K>R		No	ClinGen gnomAD
CA341261044 rs1250009787	469	E>K		No	ClinGen gnomAD
rs759126466 CA955168	470	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	471	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1035656544 CA26803035	472	L>F		No	ClinGen gnomAD
CA341261085 rs1368517675	473	S>T		No	ClinGen gnomAD
CA26803055 rs868775105	474	E>*		No	ClinGen gnomAD
CA341261090 rs868775105	474	E>Q		No	ClinGen gnomAD
CA955170 rs752462169	476	E>K		No	ClinGen ExAC gnomAD
CA341261113 rs1435466393	477	G>A		No	ClinGen gnomAD
rs374491712 CA955171	480	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1254365630 CA341261131	480	G>S		No	ClinGen TOPMed
CA341261134 rs1359021223	481	G>R		No	ClinGen TOPMed
TCGA novel	482	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368645937 CA955172	482	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA26803103 rs866540530	486	R>I		No	ClinGen Ensembl
CA341261176 rs1381563858	487	H>R		No	ClinGen gnomAD
CA341261201 rs1310461699	490	D>G		No	ClinGen TOPMed
CA26803114 rs968843815	491	I>V		No	ClinGen Ensembl
rs1191037183 CA341261211	492	N>H		No	ClinGen gnomAD
rs974915901 CA341261223	493	H>P		No	ClinGen TOPMed gnomAD
rs974915901 CA26803122	493	H>R		No	ClinGen TOPMed gnomAD
rs1209672714 CA341261229	494	L>P		No	ClinGen gnomAD
CA955174 rs757010427	494	L>V		No	ClinGen ExAC TOPMed gnomAD
CA26803169 rs372877567	496	T>A		No	ClinGen ESP TOPMed gnomAD
rs1186411280 CA341261253	498	G>E		No	ClinGen gnomAD
rs1405376992 CA341261470	503	E>*		No	ClinGen gnomAD
CA341261476 rs1399840821	503	E>V		No	ClinGen gnomAD
CA955185 rs747335196	508	D>G		No	ClinGen ExAC gnomAD
rs369629520 CA26804106	510	A>T		No	ClinGen ESP TOPMed gnomAD
CA955186 rs371958035	515	R>C	Variant assessed as Somatic; 0.0003717 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA955187 rs200753215 COSM1207348 COSM1207349	515	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA341261670 rs1374895705	517	P>S		No	ClinGen TOPMed gnomAD
CA341261665 rs1374895705	517	P>T		No	ClinGen TOPMed gnomAD
rs1306366896 CA341261691	518	P>H		No	ClinGen TOPMed
CA341261714 rs1281440325	520	Q>*		No	ClinGen gnomAD
rs967564834 CA26804121	520	Q>H		No	ClinGen TOPMed
rs1371470267 CA341261730	520	Q>R		No	ClinGen gnomAD
CA341261751 rs1302403510	521	H>R		No	ClinGen gnomAD
rs1223508587 CA341261744	521	H>Y		No	ClinGen gnomAD
CA955190 rs376844887	524	H>R		No	ClinGen ESP ExAC gnomAD
rs201967018 CA955192	525	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1206026779 CA341261924	528	D>G		No	ClinGen TOPMed gnomAD
CA955193 rs751167351	530	E>D		No	ClinGen ExAC
TCGA novel	530	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA955194 rs757101872	532	E>Q		No	ClinGen ExAC gnomAD
CA955195 rs767298037	533	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1405046565 CA341262056	534	D>E		No	ClinGen TOPMed
rs1191471451 CA341262054	534	D>G		No	ClinGen gnomAD
CA955196 rs568792482	535	D>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1557823610 CA341262107	536	P>L		No	ClinGen Ensembl
rs905367493 CA26804160	538	P>L		No	ClinGen gnomAD
rs770553723 CA955197	539	A>V		No	ClinGen ExAC TOPMed gnomAD
CA341262158 rs1390734786	540	I>L		No	ClinGen gnomAD
CA955198 rs779916304	540	I>T		No	ClinGen ExAC gnomAD
CA955199 rs748207824	542	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	544	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs878868572 CA26804180	544	K>R		No	ClinGen Ensembl
rs758436443 CA955200	546	I>V		No	ClinGen ExAC TOPMed gnomAD
CA341262306 rs1361768052	547	Y>F		No	ClinGen TOPMed
rs777867423 CA955201	548	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1303246033 CA341262392	551	G>R		No	ClinGen gnomAD
rs766231347 CA955217	552	H>N		No	ClinGen ExAC gnomAD
rs1448565930 CA341262634	552	H>R		No	ClinGen TOPMed gnomAD
rs777901485 CA955220	557	L>V		No	ClinGen ExAC gnomAD
rs369820145 CA26805210 CA955221	559	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1415430013 CA341262745	559	M>T		No	ClinGen TOPMed gnomAD
rs560964657 CA26805205	559	M>V		No	ClinGen 1000Genomes
CA341262762 rs1484087862	560	K>T		No	ClinGen TOPMed
rs757578445 CA955222	561	E>G		No	ClinGen ExAC TOPMed gnomAD
CA955223 rs781527954	562	G>A		No	ClinGen ExAC TOPMed gnomAD
CA341262797 rs781527954	562	G>D		No	ClinGen ExAC TOPMed gnomAD
rs770230227 CA955225	566	Y>C		No	ClinGen ExAC gnomAD
rs749797756 CA26805263	567	I>M		No	ClinGen ExAC gnomAD
rs766731574 CA955226	567	I>V		No	ClinGen ExAC TOPMed gnomAD
CA955228 rs768093193	568	I>T		No	ClinGen ExAC gnomAD
rs773891724 CA955229	570	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA26805275 rs867626416	571	D>Y		No	ClinGen Ensembl
rs1232274108 CA341262965	572	K>R		No	ClinGen gnomAD
rs1352357246 CA341262979	573	G>S		No	ClinGen TOPMed
CA955230 rs373496701	573	G>V		No	ClinGen ESP ExAC gnomAD
CA341262998 rs772784653	574	D>E		No	ClinGen ExAC TOPMed gnomAD
CA955231 rs771741434	574	D>N		No	ClinGen ExAC gnomAD
TCGA novel	575	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1283392989 CA341263009	575	G>R		No	ClinGen gnomAD
rs760475987 CA955233	579	A>T		No	ClinGen ExAC gnomAD
CA955235 rs753782332	580	R>L		No	ClinGen ExAC TOPMed gnomAD
CA341263088 rs753782332	580	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs766179132 CA955234	580	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs376163977 CA955236	581	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1362765070 CA341263124	582	Q>H		No	ClinGen TOPMed
CA955237 rs764126446	582	Q>L		No	ClinGen ExAC gnomAD
rs764126446 CA341263120	582	Q>R		No	ClinGen ExAC gnomAD
rs370762697 CA955238	583	N>S		No	ClinGen ESP ExAC gnomAD
CA341263148 rs1384780548	584	G>S		No	ClinGen gnomAD
rs958217019 CA26805344	587	G>A		No	ClinGen TOPMed
rs750661119 CA26805350	589	V>I		No	ClinGen ExAC gnomAD
rs750661119 CA955241	589	V>L		No	ClinGen ExAC gnomAD
CA955242 rs756502988	591	T>M		No	ClinGen ExAC gnomAD
CA955244 rs749811116	592	S>T		No	ClinGen ExAC gnomAD
CA341263302 rs1280619556	594	I>V		No	ClinGen Ensembl
COSM3806135 rs769227073 CA955245 COSM3806134	595	D>N	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA955246 rs779246551	596	V>A		No	ClinGen ExAC gnomAD
rs747661424 CA955247	597	T>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	599	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341263427 rs549853392	601	N>K		No	ClinGen 1000Genomes TOPMed
rs571383468 CA26805465	602	S>C		No	ClinGen 1000Genomes
CA341263436 rs571383468	602	S>G		No	ClinGen 1000Genomes
CA955252 rs770668831	603	K>E		No	ClinGen ExAC gnomAD
CA341263470 rs1251430070	604	G>S		No	ClinGen gnomAD
rs745692547 CA955273	605	S>P		No	ClinGen ExAC gnomAD
TCGA novel	606	S>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q5T0N5

6 regional properties for Q5T0N5

Type	Name	Position	InterPro Accession
domain	FCH domain	1 - 93	IPR001060
domain	SH3 domain	538 - 599	IPR001452
domain	HR1 rho-binding domain	397 - 474	IPR011072
domain	F-BAR domain	1 - 263	IPR031160
domain	FNBP1L, SH3 domain	541 - 597	IPR035493
domain	FNBP1L, F-BAR domain	5 - 256	IPR035494

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Cytoplasm, cytoskeleton Cytoplasm, cell cortex Cytoplasmic vesicle Cell membrane ; Peripheral membrane protein ; Cytoplasmic side
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
cell cortex	The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins.
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.
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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

3 GO annotations of molecular function

Name	Definition
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.
GTPase binding	Binding to a GTPase, any enzyme that catalyzes the hydrolysis of GTP.
lipid binding	Binding to a lipid.

10 GO annotations of biological process

Name	Definition
autophagy	The cellular catabolic process in which cells digest parts of their own cytoplasm; allows for both recycling of macromolecular constituents under conditions of cellular stress and remodeling the intracellular structure for cell differentiation.
cilium assembly	The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole.
clathrin-dependent endocytosis	An endocytosis process that begins when material is taken up into clathrin-coated pits, which then pinch off to form clathrin-coated endocytic vesicles.
membrane invagination	The infolding of a membrane.
plasma membrane tubulation	A membrane tubulation process occurring in a plasma membrane.
positive regulation of filopodium assembly	Any process that activates or increases the frequency, rate or extent of the assembly of a filopodium, a thin, stiff protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal growth cone.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
vesicle budding from membrane	The evagination of a membrane, resulting in formation of a vesicle.
vesicle organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a vesicle.
vesicle transport along actin filament	Movement of a vesicle along an actin filament, mediated by motor proteins.

16 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q7Z6B7	SRGAP1	SLIT-ROBO Rho GTPase-activating protein 1	Homo sapiens (Human)	PR
O75044	SRGAP2	SLIT-ROBO Rho GTPase-activating protein 2	Homo sapiens (Human)	PR
Q96RU3	FNBP1	Formin-binding protein 1	Homo sapiens (Human)	PR
O94868	FCHSD2	F-BAR and double SH3 domains protein 2	Homo sapiens (Human)	PR
Q8CJ53	Trip10	Cdc42-interacting protein 4	Mus musculus (Mouse)	PR
Q91Z69	Srgap1	SLIT-ROBO Rho GTPase-activating protein 1	Mus musculus (Mouse)	PR
Q3USJ8	Fchsd2	F-BAR and double SH3 domains protein 2	Mus musculus (Mouse)	PR
Q6PFY1	Fchsd1	F-BAR and double SH3 domains protein 1	Mus musculus (Mouse)	PR
Q812A2	Srgap3	SLIT-ROBO Rho GTPase-activating protein 3	Mus musculus (Mouse)	PR
Q91Z67	Srgap2	SLIT-ROBO Rho GTPase-activating protein 2	Mus musculus (Mouse)	PR
Q80TY0	Fnbp1	Formin-binding protein 1	Mus musculus (Mouse)	PR
Q8K012	Fnbp1l	Formin-binding protein 1-like	Mus musculus (Mouse)	PR
D4A208	Srgap2	SLIT-ROBO Rho GTPase-activating protein 2	Rattus norvegicus (Rat)	PR
Q8R511	Fnbp1	Formin-binding protein 1	Rattus norvegicus (Rat)	PR
Q2HWF0	Fnbp1l	Formin-binding protein 1-like	Rattus norvegicus (Rat)	PR
Q6GUF4	fnbp1l	Formin-binding protein 1-like	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR

10	20	30	40	50	60
MSWGTELWDQ	FDSLDKHTQW	GIDFLERYAK	FVKERIEIEQ	NYAKQLRNLV	KKYCPKRSSK
70	80	90	100	110	120
DEEPRFTSCV	AFFNILNELN	DYAGQREVVA	EEMAHRVYGE	LMRYAHDLKT	ERKMHLQEGR
130	140	150	160	170	180
KAQQYLDMCW	KQMDNSKKKF	ERECREAEKA	QQSYERLDND	TNATKADVEK	AKQQLNLRTH
190	200	210	220	230	240
MADENKNEYA	AQLQNFNGEQ	HKHFYVVIPQ	IYKQLQEMDE	RRTIKLSECY	RGFADSERKV
250	260	270	280	290	300
IPIISKCLEG	MILAAKSVDE	RRDSQMVVDS	FKSGFEPPGD	FPFEDYSQHI	YRTISDGTIS
310	320	330	340	350	360
ASKQESGKMD	AKTTVGKAKG	KLWLFGKKPK	PQSPPLTPTS	LFTSSTPNGS	QFLTFSIEPV
370	380	390	400	410	420
HYCMNEIKTG	KPRIPSFRSL	KRGWSVKMGP	ALEDFSHLPP	EQRRKKLQQR	IDELNRELQK
430	440	450	460	470	480
ESDQKDALNK	MKDVYEKNPQ	MGDPGSLQPK	LAETMNNIDR	LRMEIHKNEA	WLSEVEGKTG
490	500	510	520	530	540
GRGDRRHSSD	INHLVTQGRE	SPEGSYTDDA	NQEVRGPPQQ	HGHHNEFDDE	FEDDDPLPAI
550	560	570	580	590	600
GHCKAIYPFD	GHNEGTLAMK	EGEVLYIIEE	DKGDGWTRAR	RQNGEEGYVP	TSYIDVTLEK

NSKGS