AiPD: Autoinhibited Protein Database

O60879

Gene name	DIAPH2 (DIA)
Protein name	Protein diaphanous homolog 2
Names	Diaphanous-related formin-2, DRF2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1730
EC number
Protein Class

Descriptions

Formins are conserved actin nucleators responsible for the assembly of diverse actin structures. The autoinhibition mechanism involves the intramolecular interaction between N-terminal DID domain and C-terminal DAD domain. Autoinhibition is relieved by GTP-bound Rho proteins, which bind to the DID and an adjacent GTPase binding (G) element, and consequently displace the DAD. The DAD domain was identified by sequence similarity with mDia1 (O08808).

Autoinhibitory domains (AIDs)

1019-1073 (DAD domain) SS

Target domain	158-402 (DID domain)
Relief mechanism	Partner binding
Assay

AID

1019-1073 (DAD domain)

Target domain

158-402 (DID domain)

Relief mechanism

Partner binding (Rho GTPase binding to the GTPase-binding domain)

Assay

Accessory elements

No accessory elements

References

Lammers M et al. (2005) "The regulation of mDia1 by autoinhibition and its release by Rho*GTP", The EMBO journal, 24, 4176-87

Otomo T et al. (2010) "Crystal structure of the Formin mDia1 in autoinhibited conformation", PloS one, 5,

Otomo T et al. (2005) "Structural basis of Rho GTPase-mediated activation of the formin mDia1", Molecular cell, 18, 273-81

Kitzing TM et al. (2007) "Positive feedback between Dia1, LARG, and RhoA regulates cell morphology and invasion", Genes & development, 21, 1478-83

Mizuno H et al. (2018) "Helical rotation of the diaphanous-related formin mDia1 generates actin filaments resistant to cofilin", Proceedings of the National Academy of Sciences of the United States of America, 115, E5000-E5007

Seth A et al. (2006) "Autoinhibition regulates cellular localization and actin assembly activity of the diaphanous-related formins FRLalpha and mDia1", The Journal of cell biology, 174, 701-13

Lash LL et al. (2013) "Small-molecule intramimics of formin autoinhibition: a new strategy to target the cytoskeletal remodeling machinery in cancer cells", Cancer research, 73, 6793-803

Deacon SW et al. (2008) "Chemical inhibition through conformational stabilization of Rho GTPase effectors", Handbook of experimental pharmacology, , 431-60

Orshanskiy IA et al. (2015) "[Molecular Dynamics of N- and C-terminal Interactions during Autoinhibition and Activation of Formin mDial]", Biofizika, 60, 451-6

Lammers M et al. (2008) "Specificity of interactions between mDia isoforms and Rho proteins", The Journal of biological chemistry, 283, 35236-46

Copeland SJ et al. (2007) "The diaphanous inhibitory domain/diaphanous autoregulatory domain interaction is able to mediate heterodimerization between mDia1 and mDia2", The Journal of biological chemistry, 282, 30120-30

Alberts AS (2001) "Identification of a carboxyl-terminal diaphanous-related formin homology protein autoregulatory domain", The Journal of biological chemistry, 276, 2824-30

Maiti S et al. (2012) "Structure and activity of full-length formin mDia1", Cytoskeleton (Hoboken, N.J.), 69, 393-405

Gould CJ et al. (2011) "The formin DAD domain plays dual roles in autoinhibition and actin nucleation", Current biology : CB, 21, 384-90

Goode BL et al. (2007) "Mechanism and function of formins in the control of actin assembly", Annual review of biochemistry, 76, 593-627

Higgs HN (2005) "Formin proteins: a domain-based approach", Trends in biochemical sciences, 30, 342-53

Nezami A et al. (2010) "Crystal structure of a complex between amino and carboxy terminal fragments of mDia1: insights into autoinhibition of diaphanous-related formins", PloS one, 5,

Kovar DR (2006) "Molecular details of formin-mediated actin assembly", Current opinion in cell biology, 18, 11-7

Li F et al. (2005) "Dissecting requirements for auto-inhibition of actin nucleation by the formin, mDia1", The Journal of biological chemistry, 280, 6986-92

Copeland JW et al. (2004) "Homo-oligomerization is essential for F-actin assembly by the formin family FH2 domain", The Journal of biological chemistry, 279, 50250-6

Bai CX et al. (2008) "Activation of TRPP2 through mDia1-dependent voltage gating", The EMBO journal, 27, 1345-56

Li F et al. (2003) "The mouse Formin mDia1 is a potent actin nucleation factor regulated by autoinhibition", Current biology : CB, 13, 1335-40

Ramabhadran V et al. (2013) "Actin monomers activate inverted formin 2 by competing with its autoinhibitory interaction", The Journal of biological chemistry, 288, 26847-55

Autoinhibited structure

Activated structure

1 structures for O60879

Entry ID	Method	Resolution	Chain	Position	Source
AF-O60879-F1	Predicted				AlphaFoldDB

476 variants for O60879

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000973169 RCV001262467 rs20374 CA10467837	83	A>T	Premature ovarian failure 2A [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1448729146 CA413989400	4	P>S		No	ClinGen TOPMed
rs1224409085 CA413989428	8	A>V		No	ClinGen TOPMed gnomAD
rs1215560548 CA413989433	9	S>L		No	ClinGen TOPMed
rs1263476297 CA413989443	11	A>S		No	ClinGen gnomAD
CA413989450 rs1288942212	12	G>E		No	ClinGen TOPMed
CA10467792 rs767570677	15	S>N		No	ClinGen ExAC gnomAD
rs937479275 CA333501434	15	S>R		No	ClinGen Ensembl
CA413989471 rs1182136646	16	E>K		No	ClinGen gnomAD
rs753426206 CA10467793	18	P>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1341774980 CA413989489	18	P>S		No	ClinGen TOPMed
rs1480951561 CA413989492	19	G>S		No	ClinGen gnomAD
rs1602424115 CA413989498	20	G>R		No	ClinGen Ensembl
rs866219137 CA333501437	22	R>Q		No	ClinGen Ensembl
rs893219590 CA413989525	24	N>S		No	ClinGen TOPMed
rs893219590 CA333501439	24	N>T		No	ClinGen TOPMed
rs1306252279 CA413989534	25	K>N		No	ClinGen TOPMed
CA10467794 rs760679244	25	K>Q		No	ClinGen ExAC gnomAD
CA413989532 rs1479892035	25	K>R		No	ClinGen gnomAD
rs1020294222 CA333501441	27	S>G		No	ClinGen TOPMed gnomAD
CA333501442 rs945147789	28	A>V		No	ClinGen Ensembl
CA10467798 rs778953819	30	N>K		No	ClinGen ExAC TOPMed gnomAD
CA10467797 rs755260315	30	N>S		No	ClinGen ExAC gnomAD
CA10467799 rs369972937	31	R>W		No	ClinGen ESP ExAC gnomAD
rs1291837205 CA413989580	33	A>V		No	ClinGen gnomAD
rs1008166381 CA333501443	35	E>*		No	ClinGen Ensembl
CA413989615 rs1390464992	38	T>K		No	ClinGen gnomAD
CA10467800 rs758539283	39	K>E		No	ClinGen ExAC gnomAD
CA413989620 rs1372032545	39	K>R		No	ClinGen TOPMed
CA333505050 rs766059990	45	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10467832 rs780457894	56	R>H		No	ClinGen ExAC TOPMed gnomAD
rs956029682 CA333505232	57	D>E		No	ClinGen TOPMed gnomAD
COSM198841 CA10467833 rs747854335	58	R>Q	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1432624369 CA413989790	60	T>I		No	ClinGen gnomAD
rs1488194710 CA413989835	66	T>I		No	ClinGen TOPMed
rs1261975969 CA413989840	67	V>A		No	ClinGen TOPMed
COSM1126446 CA333505233 rs988587779	72	P>L	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
rs762762792 CA10467835	73	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1246686709 COSM458190 CA413989883	73	L>R	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1183520099 CA413989912	77	P>L		No	ClinGen gnomAD
rs20374 CA333505238	83	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs20374 CA333505239	83	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10467838 rs776367303	83	A>V		No	ClinGen ExAC TOPMed gnomAD
CA10467840 rs764990849	84	M>T		No	ClinGen ExAC gnomAD
CA10467841 rs150226287	88	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1569379564 CA413990010	92	P>Q		No	ClinGen Ensembl
rs376622962 CA10467842	93	L>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs926552169 CA333505240	94	Y>C		No	ClinGen TOPMed
CA10467843 rs764249440	97	R>P		No	ClinGen ExAC gnomAD
rs751649835 CA10467844	98	S>F		No	ClinGen ExAC gnomAD
CA413990054 rs1305571963	99	L>F		No	ClinGen gnomAD
CA333505241 rs757257069	99	L>S		No	ClinGen ExAC TOPMed gnomAD
CA10467845 rs757257069	99	L>W		No	ClinGen ExAC TOPMed gnomAD
rs1469693792 CA413990105	106	V>A		No	ClinGen gnomAD
rs1410436786 CA413990168	114	M>I		No	ClinGen gnomAD
rs750487048 CA10467864	121	E>G		No	ClinGen ExAC gnomAD
rs761120702 CA10467865	122	E>K		No	ClinGen ExAC gnomAD
CA413990261 rs1324641744	125	A>T		No	ClinGen TOPMed gnomAD
CA10467866 rs766861897	125	A>V		No	ClinGen ExAC TOPMed gnomAD
rs754269506 CA10467867	128	R>*		No	ClinGen ExAC gnomAD
CA10467868 rs755327169	128	R>Q		No	ClinGen ExAC
CA10467869 rs201217520	129	N>D		No	ClinGen ExAC TOPMed gnomAD
CA413990294 rs1602484014	130	K>T		No	ClinGen Ensembl
CA10467871 rs756902044	131	D>E		No	ClinGen ExAC gnomAD
rs780596473 CA10467872	133	T>A		No	ClinGen ExAC gnomAD
CA413990315 rs1198901838	133	T>I		No	ClinGen gnomAD
rs769628938 CA10467874	134	T>S		No	ClinGen ExAC gnomAD
rs779897805 CA10467875	136	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1371175715 CA413990334	136	R>L		No	ClinGen gnomAD
rs1461373923 CA413990351	138	M>I		No	ClinGen gnomAD
CA413990350 rs1461373923	138	M>I		No	ClinGen gnomAD
CA413990359 rs1397923762	140	V>I		No	ClinGen gnomAD
rs751038280 CA10467876	141	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1164253155 CA413991909	151	G>R		No	ClinGen Ensembl
CA333535289 rs751368009	152	L>P		No	ClinGen Ensembl
CA413991963 rs1321156583	155	S>T		No	ClinGen gnomAD
CA10467908 rs754483675	156	K>N		No	ClinGen 1000Genomes ExAC gnomAD
CA10467909 rs776010574	157	H>R		No	ClinGen ExAC gnomAD
rs764357534 CA333535295	159	C>*		No	ClinGen ExAC gnomAD
rs1419247666 CA413992115	166	Y>H		No	ClinGen gnomAD
CA10467913 rs755696712	167	V>A		No	ClinGen ExAC gnomAD
COSM1126451 CA333535300 rs866012607	168	H>N	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1427552902 CA413992187	171	R>G		No	ClinGen gnomAD
rs765917442 CA10467914	171	R>P		No	ClinGen ExAC TOPMed gnomAD
COSM198857 rs765917442 CA10467915	171	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs778550013 CA10467916	172	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1408934511 CA413992208	173	G>C		No	ClinGen gnomAD
CA413992218 rs1440716580	174	I>V		No	ClinGen gnomAD
rs1569419036 CA413992239	175	S>L		No	ClinGen Ensembl
rs778767362 CA10467917	178	K>N		No	ClinGen ExAC gnomAD
rs1035378053 CA333535307	179	L>H		No	ClinGen Ensembl
rs1297724119 CA413996403	200	N>D		No	ClinGen gnomAD
CA10468056 rs775234189	200	N>S		No	ClinGen ExAC gnomAD
CA413996548 rs1226285327	220	K>N		No	ClinGen TOPMed
rs1569425774 CA413996553	221	Q>R		No	ClinGen Ensembl
CA413996589 rs1427311394	224	N>S		No	ClinGen gnomAD
rs370250040 CA10468064	226	D>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA413996610 rs1420384394	227	K>R		No	ClinGen TOPMed
CA10468065 rs754215989	233	L>F		No	ClinGen ExAC gnomAD
CA413996661 rs1431793025	234	I>V		No	ClinGen gnomAD
CA333538198 rs1003782572	239	A>E		No	ClinGen Ensembl
rs112507151 CA333538199	242	N>D		No	ClinGen Ensembl
rs1298873938 CA413996753	245	F>L		No	ClinGen TOPMed
CA413996762 rs1161826662	246	G>*		No	ClinGen TOPMed gnomAD
CA413996765 rs1413301312	246	G>V		No	ClinGen gnomAD
CA413996772 rs1406218294	247	L>F		No	ClinGen gnomAD
rs935630992 CA413996773	248	Q>E		No	ClinGen TOPMed gnomAD
rs935630992 CA333538492	248	Q>K		No	ClinGen TOPMed gnomAD
rs1319821359 CA413996802	252	G>E		No	ClinGen gnomAD
rs767022028 COSM1126462 CA10468093	257	L>I	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA10468094 rs761295202	259	L>R		No	ClinGen ExAC
CA413996865 rs1436638995	262	R>G		No	ClinGen TOPMed gnomAD
rs766945001 CA10468095	262	R>T		No	ClinGen ExAC
CA413996873 rs1312342605	263	A>G		No	ClinGen gnomAD
CA10468096 rs777150684	263	A>T		No	ClinGen ExAC
CA10468097 rs372651778	264	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1228565174 CA413996886	265	D>G		No	ClinGen gnomAD
rs1602626843 CA413996890	266	P>T		No	ClinGen Ensembl
CA333538493 rs20382	283	C>*		No	ClinGen Ensembl
CA413997015 rs1193748766	283	C>S		No	ClinGen TOPMed
rs756827526 CA413997052	288	E>D		No	ClinGen ExAC TOPMed gnomAD
CA413997057 rs1236995444	289	N>S		No	ClinGen TOPMed gnomAD
rs1415619289 CA413997064	290	I>T		No	ClinGen gnomAD
rs749883179 CA10468102	290	I>V		No	ClinGen ExAC gnomAD
CA413997088 rs1454466996	292	D>G		No	ClinGen TOPMed
rs1252689412 CA413997128	298	I>V		No	ClinGen TOPMed
CA333538617 rs1055780032	301	A>V		No	ClinGen TOPMed
rs962945898 CA333538618	304	R>G		No	ClinGen TOPMed gnomAD
CA10468122 rs760242953	304	R>K		No	ClinGen ExAC TOPMed gnomAD
CA10468123 rs765862861	307	R>G		No	ClinGen ExAC gnomAD
CA10468124 rs753823210	312	P>A		No	ClinGen ExAC gnomAD
CA10468125 rs753823210	312	P>S		No	ClinGen ExAC gnomAD
CA10468126 rs778800723	318	E>Q		No	ClinGen ExAC gnomAD
rs1006232827 CA333538619	319	N>T		No	ClinGen TOPMed gnomAD
rs1569426995 CA413997272	320	Q>E		No	ClinGen Ensembl
rs1461583732 CA413997290	322	A>G		No	ClinGen gnomAD
CA413997288 rs1482828872	322	A>T		No	ClinGen gnomAD
CA10468130 rs747233087	326	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs763957631 CA10468149	328	A>V		No	ClinGen ExAC gnomAD
rs751867625 CA10468150	331	Q>P		No	ClinGen ExAC
CA413990558 rs1448332434	335	A>D		No	ClinGen gnomAD
COSM1126467 CA413990582 rs1168751438	339	S>Y	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1353805774 CA413990589	340	P>L		No	ClinGen TOPMed
CA413990596 rs1391596982	341	Y>F		No	ClinGen gnomAD
CA10468153 rs745878071	346	R>*		No	ClinGen ExAC gnomAD
rs1388973900 CA413990764	347	I>T		No	ClinGen TOPMed gnomAD
CA413990816 rs1414460027	351	N>S		No	ClinGen TOPMed gnomAD
rs1602638413 CA413990850	353	F>C		No	ClinGen Ensembl
rs1365193840 CA413990865	354	L>F		No	ClinGen gnomAD
rs145175688 CA10468154	355	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA10468155 rs780492074	355	R>H		No	ClinGen ExAC gnomAD
CA413990898 rs1338878948	356	S>*		No	ClinGen gnomAD
rs749787265 CA10468156	357	G>A		No	ClinGen ExAC gnomAD
rs1264565212 CA413990956	360	T>R		No	ClinGen gnomAD
CA413990963 rs1431033617	361	M>V		No	ClinGen TOPMed
rs1398005767 CA413991249	365	L>P		No	ClinGen TOPMed
rs964342058 CA333540054	366	K>R		No	ClinGen TOPMed
rs764802803 CA413991294	371	D>G		No	ClinGen ExAC TOPMed gnomAD
rs764802803 CA10468163	371	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1400160192 CA413991373	382	E>*		No	ClinGen gnomAD
rs1395608172 CA413991383	383	N>S		No	ClinGen gnomAD
rs1313687775 CA413991389	384	K>*		No	ClinGen gnomAD
CA10468167 rs751346588	393	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA10468168 rs757562335	394	R>H		No	ClinGen ExAC TOPMed gnomAD
CA10468169 rs767569337	396	N>D		No	ClinGen ExAC gnomAD
rs1209311891 CA413991472 COSM1469910	396	N>S	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1178404489 COSM1743165 CA413991492	399	R>*	biliary_tract [Cosmic]	No	ClinGen cosmic curated TOPMed
COSM274784 rs41300144 CA10468170	399	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1256387036 CA413991497	400	A>E		No	ClinGen TOPMed gnomAD
CA10468171 rs780674901	400	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA413991499 rs1256387036	400	A>V		No	ClinGen TOPMed gnomAD
CA413991549 rs1256095397	405	M>R		No	ClinGen gnomAD
rs975858342 CA333540395	405	M>V		No	ClinGen Ensembl
rs761765327 CA10468185	408	V>G		No	ClinGen ExAC gnomAD
rs371580916 CA333540398	411	L>F		No	ClinGen ESP TOPMed
rs866018113 CA333540400	412	L>R		No	ClinGen Ensembl
rs1202587746 CA413991596	412	L>V		No	ClinGen TOPMed gnomAD
rs1179391454 CA413991623	415	M>I		No	ClinGen gnomAD
CA10468189 rs149147234	420	A>D		No	ClinGen ESP ExAC gnomAD
rs767329700 CA10468188	420	A>P		No	ClinGen ExAC TOPMed gnomAD
CA333540407 rs1028399043	421	A>G		No	ClinGen Ensembl
CA413991665 rs1427990679	422	E>G		No	ClinGen TOPMed gnomAD
rs20361 CA10468192	425	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_049095 VAR_049096 rs20361 CA10468191	425	F>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs375039543 CA10468194	432	F>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs986969349 CA333540414	432	F>V		No	ClinGen Ensembl
rs151286521 CA10468197	438	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1349431816 CA413991795	440	Y>*		No	ClinGen gnomAD
rs1301271347 CA413991792	440	Y>C		No	ClinGen TOPMed gnomAD
CA413991799 rs1250249192	441	I>N		No	ClinGen TOPMed
rs145751945 CA10468212	445	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA413991844 rs1296298694	446	Y>H		No	ClinGen gnomAD
CA413991860 rs1365414359	448	I>V		No	ClinGen gnomAD
CA413992015 rs1288166969	460	C>F		No	ClinGen TOPMed
rs1288085688 CA413992006	460	C>S		No	ClinGen TOPMed gnomAD
rs1321511083 CA413992049	463	M>V		No	ClinGen gnomAD
CA10468214 rs759682766	474	D>Y		No	ClinGen ExAC gnomAD
CA413992225 rs1463972710	475	I>V		No	ClinGen TOPMed gnomAD
CA10468216 rs753254827	477	L>F		No	ClinGen ExAC gnomAD
CA333540954 rs928067608	478	T>S		No	ClinGen TOPMed gnomAD
CA10468217 rs758909878	479	H>L		No	ClinGen ExAC gnomAD
CA10468228 rs760452040	482	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1462730780 CA413993000	484	C>R		No	ClinGen TOPMed
CA413993059 rs1263947677	488	A>V		No	ClinGen TOPMed
rs776900507 CA10468230	490	V>A		No	ClinGen ExAC gnomAD
CA333541529 rs868372129	491	E>G		No	ClinGen Ensembl
rs138426768 CA333541531	493	S>G		No	ClinGen ESP gnomAD
rs759735706 CA10468231	493	S>T		No	ClinGen ExAC TOPMed gnomAD
rs765344185 CA10468232	494	E>D		No	ClinGen ExAC
rs1419802528 CA413993172	496	K>R		No	ClinGen gnomAD
rs867310665 CA333542026	504	F>L		No	ClinGen Ensembl
CA10468254 rs150280563	505	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10468255 rs150280563	505	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA333542032 rs753688053	506	E>D		No	ClinGen gnomAD
CA10468256 rs201017046	511	R>L		No	ClinGen 1000Genomes ExAC gnomAD
COSM198861 CA10468257 rs201017046	511	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA333542037 rs377454416	516	A>V		No	ClinGen ESP TOPMed gnomAD
rs113896202 CA333542039	520	K>R		No	ClinGen Ensembl
CA413994089 rs1300633225	522	D>E		No	ClinGen TOPMed
CA413994081 rs1339187370	522	D>G		No	ClinGen TOPMed
CA413994166 rs1345826251	528	L>V		No	ClinGen gnomAD
rs199871197 CA10468258	529	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA413994225 rs1360044797	532	I>M		No	ClinGen TOPMed
CA10468259 rs375631693	534	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA413994271 rs1407231307	536	R>*		No	ClinGen TOPMed
CA10468260 rs200944548	536	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769568940 CA10468269	539	A>S		No	ClinGen ExAC gnomAD
rs775836067 CA10468270	540	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA333543651 rs1027444053	540	Q>L		No	ClinGen TOPMed gnomAD
rs1027444053 CA413995434	540	Q>R		No	ClinGen TOPMed gnomAD
CA10468271 rs367682685	541	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA413995442 rs1602663189	542	L>V		No	ClinGen Ensembl
CA10468272 rs768820598	549	P>T		No	ClinGen ExAC gnomAD
rs1248846230 CA413995494	550	G>C		No	ClinGen TOPMed
rs1360739173 CA413995514	553	A>G		No	ClinGen TOPMed
CA413995515 rs1360739173	553	A>V		No	ClinGen TOPMed
CA333543659 rs951895050	554	A>E		No	ClinGen TOPMed gnomAD
CA413995526 rs1468900668	555	P>L		No	ClinGen gnomAD
CA10468274 rs762403448	556	P>L		No	ClinGen ExAC TOPMed gnomAD
rs774253144 CA10468273	556	P>S		No	ClinGen ExAC TOPMed gnomAD
CA10468275 rs772650980	557	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1399596552 CA413995531	557	L>M		No	ClinGen TOPMed
rs1004856154 CA333543664	560	V>A		No	ClinGen TOPMed
CA413995557 rs1426485424	561	G>E		No	ClinGen TOPMed
rs200278082 CA10468276	562	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA333543670 rs866261249	563	P>T		No	ClinGen Ensembl
CA413995574 rs1472012351	564	P>L		No	ClinGen gnomAD
rs752447041 CA413995580	565	P>L		No	ClinGen ExAC gnomAD
rs752447041 CA10468279	565	P>Q		No	ClinGen ExAC gnomAD
CA413995586 rs1395793851	566	P>L		No	ClinGen TOPMed gnomAD
rs1421003667 CA413995591	567	P>R		No	ClinGen TOPMed
rs149470789 CA10468281	568	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
COSM216869 rs143875974 COSM3786788 CA10468282	568	A>V	pancreas stomach [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs781170438 CA10468284	569	P>L		No	ClinGen ExAC
rs1490657759 CA413995612	571	L>R		No	ClinGen TOPMed
CA333543678 rs20390	572	P>T		No	ClinGen Ensembl
CA413995620 rs779682701	573	G>A		No	ClinGen ExAC TOPMed gnomAD
CA10468287 rs779682701	573	G>E		No	ClinGen ExAC TOPMed gnomAD
COSM1126472 CA10468286 rs765131524 COSM1559158	573	G>R	lung endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA413995630 rs1296336192	575	A>T		No	ClinGen TOPMed
rs183362016 CA10468289	577	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779064561 CA10468290	577	L>P		No	ClinGen ExAC gnomAD
rs953613074 CA333543687	579	P>S		No	ClinGen TOPMed
CA10468291 rs748173681	580	P>S		No	ClinGen ExAC gnomAD
CA413995660 rs1263371333	581	P>T		No	ClinGen gnomAD
rs914690421 CA333543690	587	M>I		No	ClinGen Ensembl
CA413995734 rs1187232324	592	P>S		No	ClinGen gnomAD
CA10468294 rs761245768	593	P>L		No	ClinGen ExAC gnomAD
CA413995741 rs1170719623	593	P>S		No	ClinGen TOPMed
rs771372184 CA10468295	595	P>S		No	ClinGen ExAC TOPMed gnomAD
rs771372184 CA10468296	595	P>T		No	ClinGen ExAC TOPMed gnomAD
CA10468298 rs763583845	597	P>S		No	ClinGen ExAC gnomAD
CA10468299 rs372343336	598	L>V		No	ClinGen ESP ExAC gnomAD
CA333543702 rs187696875	599	L>F		No	ClinGen 1000Genomes
CA10468301 rs766987711	600	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1234972424 CA413995789	602	G>R		No	ClinGen gnomAD
rs1286376594 CA413995812	605	P>L		No	ClinGen gnomAD
CA10468303 rs756004789	606	P>T		No	ClinGen ExAC
COSM4157053 CA413995825 rs140358965 COSM4157052	608	P>S	thyroid [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA10468304 rs140358965	608	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA333543709 rs912731125	609	L>V		No	ClinGen TOPMed gnomAD
CA10468305 rs142760445	612	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755233576 CA10468306	615	P>S		No	ClinGen ExAC gnomAD
CA10468307 rs147397687	616	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs748369743 CA10468308	618	I>V		No	ClinGen ExAC gnomAD
CA333543719 rs866545325	623	P>L		No	ClinGen Ensembl
rs1251694924 CA413995935	626	M>I		No	ClinGen gnomAD
CA413995932 rs1180515933	626	M>K		No	ClinGen gnomAD
CA413995946 rs1161332865	628	Q>K		No	ClinGen gnomAD
rs1385364358 CA413995978	631	M>I		No	ClinGen gnomAD
CA333543724 rs201991693	633	K>E		No	ClinGen Ensembl
rs1465684097 CA413995989	633	K>T		No	ClinGen gnomAD
rs1428498806 CA413995994	634	P>T		No	ClinGen TOPMed gnomAD
CA10468310 rs777972403	636	V>A		No	ClinGen ExAC gnomAD
rs746280516 CA10468314	642	N>S		No	ClinGen ExAC gnomAD
CA10468316 rs369881000	643	W>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA10468328 rs778026515	648	P>L		No	ClinGen ExAC gnomAD
CA10468327 rs758656989	648	P>S		No	ClinGen ExAC gnomAD
CA413996107 rs758656989	648	P>T		No	ClinGen ExAC gnomAD
rs1166407891 CA413996118	650	E>Q		No	ClinGen gnomAD
rs1353718669 CA413996126	651	L>V		No	ClinGen TOPMed gnomAD
CA10468329 rs747031167	652	S>T		No	ClinGen ExAC gnomAD
rs1317387035 CA413996151	654	N>K		No	ClinGen gnomAD
CA10468330 rs757350667	659	R>I		No	ClinGen ExAC gnomAD
CA10468331 rs781603260	662	E>G		No	ClinGen ExAC gnomAD
CA10468332 rs746361186	669	D>H		No	ClinGen ExAC gnomAD
CA10468334 rs775790656	672	A>T		No	ClinGen ExAC gnomAD
CA413996292 rs1197718196	674	L>M		No	ClinGen TOPMed
rs1383658989 CA413996301	675	A>P		No	ClinGen TOPMed gnomAD
CA413996328 rs1251745641	679	A>T		No	ClinGen TOPMed
CA413996346 rs1338395559	681	Q>H		No	ClinGen TOPMed
rs915617152 CA333545129	681	Q>R		No	ClinGen TOPMed gnomAD
rs765125455 CA333545134	682	I>M		No	ClinGen 1000Genomes
rs376844457 CA10468337	682	I>R		No	ClinGen ESP TOPMed
CA10468351 rs746390543	685	Q>R		No	ClinGen ExAC gnomAD
rs780409628 CA10468353	688	A>T		No	ClinGen ExAC gnomAD
rs749587316 CA10468354	690	A>V		No	ClinGen ExAC TOPMed gnomAD
CA333560646 rs781410147	691	L>F		No	ClinGen 1000Genomes
rs909445352 CA333560647	693	E>K		No	ClinGen TOPMed
CA10468357 rs777460118	695	K>E		No	ClinGen ExAC gnomAD
rs1307964676 CA413990718	697	G>V		No	ClinGen TOPMed
COSM116125 rs1242890165 CA413990714	697	G>W	ovary [Cosmic]	No	ClinGen cosmic curated gnomAD
CA10468359 rs770388853	703	V>G		No	ClinGen ExAC gnomAD
rs776169316 CA10468360	706	L>M		No	ClinGen ExAC gnomAD
rs868765984 CA333560648	710	D>V		No	ClinGen Ensembl
CA10468361 rs759416591	712	K>R		No	ClinGen ExAC gnomAD
CA413990909 rs1602321701	713	T>S		No	ClinGen Ensembl
rs746298247 CA10468362	715	Q>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1334461463 CA413991050 COSM198880	725	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1280150650 CA413991069	728	Y>H		No	ClinGen gnomAD
CA413991110 rs1171901209	733	N>S		No	ClinGen gnomAD
rs769428501 CA10468383	734	V>F		No	ClinGen ExAC TOPMed gnomAD
rs769428501 CA10468382	734	V>I		No	ClinGen ExAC TOPMed gnomAD
CA10468384 rs373431250	735	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs939283164 CA413991125	736	L>V		No	ClinGen gnomAD
rs1211272793 CA413991136	737	E>D		No	ClinGen TOPMed gnomAD
rs1282240645 CA413991173	742	M>I		No	ClinGen gnomAD
CA413991184 rs1435940540	744	S>N		No	ClinGen gnomAD
CA413991212 rs1208514786	748	I>V		No	ClinGen TOPMed
CA333562678 rs867947946	757	E>K		No	ClinGen Ensembl
rs1274740823 CA413992521	760	I>M		No	ClinGen gnomAD
CA10468395 rs765545930	760	I>T		No	ClinGen ExAC TOPMed gnomAD
CA10468397 rs180990324	762	N>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA413992541 rs180990324	762	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1236283976 CA413992585	766	E>K		No	ClinGen TOPMed
rs779669297 CA10468401	767	L>R		No	ClinGen ExAC gnomAD
rs1602341778 CA413992668	772	D>E		No	ClinGen Ensembl
rs1602341795 CA413992753	779	Q>E		No	ClinGen Ensembl
CA10468405 rs748041269	780	F>Y		No	ClinGen ExAC gnomAD
CA413992793 rs1262322794	782	V>A		No	ClinGen TOPMed
rs771750176 CA10468406	783	V>L		No	ClinGen ExAC gnomAD
CA413994448 rs1158464692	789	M>L		No	ClinGen TOPMed
CA10468414 rs758859930	793	R>C		No	ClinGen ExAC gnomAD
rs1474480416 CA413994490	793	R>H		No	ClinGen TOPMed gnomAD
CA333563853 rs1040849331	794	L>V		No	ClinGen TOPMed
rs764330745 CA413994526	797	I>F		No	ClinGen ExAC TOPMed gnomAD
rs764330745 CA10468415	797	I>V		No	ClinGen ExAC TOPMed gnomAD
CA333563854 rs901126815	800	K>Q		No	ClinGen TOPMed
rs750127659 CA10468416	802	T>I		No	ClinGen ExAC TOPMed gnomAD
CA413994646 rs1156917689	807	I>M		No	ClinGen gnomAD
CA10468417 rs755776483	813	S>G		No	ClinGen ExAC gnomAD
rs1354472580 CA413994706	813	S>N		No	ClinGen TOPMed
rs779720854 CA10468418	815	I>T		No	ClinGen ExAC gnomAD
CA413994732 rs1318654600	816	A>T		No	ClinGen gnomAD
rs748737895 CA10468419	817	V>A		No	ClinGen ExAC gnomAD
CA333563855 rs149759473	827	S>R		No	ClinGen ESP gnomAD
rs754440459 CA10468420	829	S>R		No	ClinGen ExAC gnomAD
CA413994899 rs1464210520	831	N>K		No	ClinGen TOPMed gnomAD
CA413995148 rs1258472327	854	L>S		No	ClinGen gnomAD
rs367784674 CA10468439	865	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1176978187 CA413997670	867	T>I		No	ClinGen TOPMed gnomAD
rs1403466892 CA413997699	870	A>T		No	ClinGen TOPMed
rs371649759 CA10468440	870	A>V		No	ClinGen ESP ExAC gnomAD
CA10468442 rs758220890	873	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1156287690 CA413997855	881	A>V		No	ClinGen TOPMed
rs1172709586 CA413997857	882	D>N		No	ClinGen TOPMed gnomAD
CA10468445 rs770711211	888	Y>C		No	ClinGen ExAC gnomAD
rs781455274 CA10468446	889	R>G		No	ClinGen ExAC
rs145712757 CA10468447	889	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1482449909 CA413997963	896	E>A		No	ClinGen TOPMed
CA10468450 rs374934746	901	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA413998003 rs1310851442	902	E>Q		No	ClinGen gnomAD
CA10468452 rs774992390	906	K>N		No	ClinGen ExAC
rs1308527601 CA413998666	913	K>E		No	ClinGen gnomAD
CA413998685 rs1194399722	915	N>S		No	ClinGen TOPMed
CA413998691 rs1488230183	916	L>F		No	ClinGen TOPMed
CA10468471 rs762378364	917	A>S		No	ClinGen ExAC gnomAD
rs1261734288 CA413998700	918	S>A		No	ClinGen TOPMed
CA10468472 rs772595907	919	M>V		No	ClinGen ExAC gnomAD
rs377173349 CA333574341	925	H>R		No	ClinGen ESP TOPMed gnomAD
rs1214444419 CA413998763	927	E>K		No	ClinGen gnomAD
CA10468473 rs773663794	928	R>C		No	ClinGen ExAC TOPMed gnomAD
CA10468474 rs759242219	928	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1018937857 CA333574343	929	D>E		No	ClinGen TOPMed
rs186280696 CA10468475	933	F>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775206145 CA10468476	934	P>S		No	ClinGen ExAC TOPMed gnomAD
CA10468477 rs200369524	936	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10468478 rs763576938	937	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1460444831 CA413998845	939	Q>K		No	ClinGen TOPMed gnomAD
CA333574344 rs893026713	939	Q>R		No	ClinGen Ensembl
CA413998864 rs1351220944	941	D>G		No	ClinGen gnomAD
rs1421962129 CA413998915	947	M>I		No	ClinGen TOPMed
CA643418998 rs1428222064	947	M>I*		No	ClinGen gnomAD
CA10468494 rs775057363	949	S>T		No	ClinGen ExAC TOPMed gnomAD
rs763611614 CA10468496	951	T>I		No	ClinGen ExAC gnomAD
rs761740921 CA10468498	954	A>T		No	ClinGen ExAC gnomAD
rs372843672 CA10468499	956	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1602525843 CA413997456	966	N>S		No	ClinGen Ensembl
rs1342982771 CA413997464	967	N>S		No	ClinGen TOPMed
rs1218470616 CA413997478	969	M>V		No	ClinGen gnomAD
rs1485271628 CA413997564	980	I>T		No	ClinGen gnomAD
rs1365701108 CA413997569	981	F>V		No	ClinGen gnomAD
CA10468504 rs754029666	987	S>N		No	ClinGen ExAC gnomAD
CA10468503 rs766175106	987	S>R		No	ClinGen ExAC gnomAD
CA413997634 rs1373451899	988	I>M		No	ClinGen TOPMed
rs1176175886 CA413997625	988	I>V		No	ClinGen gnomAD
rs755210677 CA10468505	990	E>G		No	ClinGen ExAC gnomAD
rs1327051923 CA413997734	995	L>V		No	ClinGen TOPMed
CA333582469 rs867239922	996	N>D		No	ClinGen gnomAD
CA413997788 rs1415466205	998	F>L		No	ClinGen gnomAD
CA413997797 rs1569369481	999	R>Q		No	ClinGen Ensembl
CA413997803 rs1602525915	1000	T>A		No	ClinGen Ensembl
CA413997823 rs1336685004	1001	L>F		No	ClinGen TOPMed gnomAD
CA10468506 rs779138415	1003	L>S		No	ClinGen ExAC TOPMed gnomAD
CA333585354 rs891880856	1005	A>T		No	ClinGen TOPMed gnomAD
rs760613198 CA10468521	1007	R>K		No	ClinGen ExAC gnomAD
CA10468522 rs766118823	1009	N>S		No	ClinGen ExAC gnomAD
CA413998109 rs1438887875	1010	N>K		No	ClinGen gnomAD
CA413998127 rs1325441271	1013	R>G		No	ClinGen gnomAD
CA10468523 rs753601122	1016	E>G		No	ClinGen ExAC gnomAD
rs1456669469 CA413998188	1021	R>K		No	ClinGen TOPMed
CA10468524 rs759851205	1023	K>N		No	ClinGen ExAC gnomAD
rs1265558990 CA413998214	1025	A>T		No	ClinGen TOPMed
rs746342010 CA10468526	1032	E>*		No	ClinGen 1000Genomes ExAC
rs978875229 CA333585356	1033	K>N		No	ClinGen Ensembl
rs758587831 CA10468527	1035	E>K		No	ClinGen ExAC gnomAD
CA10468528 rs777883968	1036	R>C		No	ClinGen ExAC TOPMed gnomAD
CA10468530 rs770225424	1036	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10468529 rs770225424	1036	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777883968 CA413998294	1036	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1211331261 CA413998313	1039	K>E		No	ClinGen gnomAD
CA413998318 rs1223173765	1039	K>I		No	ClinGen gnomAD
rs911121076 CA333585357	1043	L>F		No	ClinGen gnomAD
rs1014316210 CA413998354	1044	I>S		No	ClinGen TOPMed gnomAD
rs1014316210 CA333585358	1044	I>T		No	ClinGen TOPMed gnomAD
CA10468531 rs781427360	1045	D>G		No	ClinGen ExAC TOPMed gnomAD
CA413998382 rs1308344025	1048	K>R		No	ClinGen TOPMed
CA413998414 rs1602584054	1050	G>D		No	ClinGen Ensembl
CA413998437 rs1191258796	1053	T>S		No	ClinGen TOPMed
rs1210711907 CA413998498	1062	A>D		No	ClinGen TOPMed
rs140577213 CA10468553	1072	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1263768787 CA413998563 COSM1491332	1072	R>H	breast [Cosmic]	No	ClinGen cosmic curated TOPMed
CA333588826 rs963211561 COSM1126515	1073	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA10468554 rs751603524	1074	K>T		No	ClinGen ExAC gnomAD
rs771338255 CA10468556 COSM2149607	1075	R>Q	central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA10468555 rs757274818 COSM122574	1075	R>W	upper_aerodigestive_tract haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1319243713 COSM758087 CA413998609	1080	P>A	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs773210944 CA10468593	1084	R>*		No	ClinGen ExAC
CA413999077 rs761184951	1084	R>L		No	ClinGen ExAC TOPMed gnomAD
CA10468594 rs761184951	1084	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10468596 rs754295467	1085	V>A		No	ClinGen ExAC gnomAD
rs766930140 CA10468595	1085	V>I		No	ClinGen ExAC gnomAD
rs1267812045 CA413999084	1086	P>S		No	ClinGen gnomAD
rs751243233 CA10468599	1088	E>G		No	ClinGen ExAC gnomAD
rs756926815 CA10468600	1090	S>A		No	ClinGen ExAC gnomAD
rs368350070 CA10468601	1091	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA10468602 rs748889750	1091	R>H		No	ClinGen ExAC gnomAD
rs1395135708 CA413999126	1093	R>C		No	ClinGen gnomAD
rs372696817 CA10468605	1093	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs372696817 CA333600835	1093	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1312411650 CA413999137	1095	N>D		No	ClinGen TOPMed gnomAD
CA333600837 rs1040485800	1095	N>S		No	ClinGen Ensembl
CA10468606 rs768520046	1097	A>T		No	ClinGen ExAC gnomAD
CA333600838 rs914811466	1098	I>S		No	ClinGen TOPMed gnomAD
rs1341706867 CA413999173	1101	K>E		No	ClinGen gnomAD
rs1220504741 CA413999182	1102	K>R		No	ClinGen gnomAD

No associated diseases with O60879

2 regional properties for O60879

Type	Name	Position	InterPro Accession
domain	Rho GTPase-activating protein domain	244 - 431	IPR000198
domain	CRAL-TRIO lipid binding domain	63 - 218	IPR001251

Functions

		Description
EC Number
Subcellular Localization	[Isoform 3]: Cytoplasm, cytosol Early endosome	Isoform 3 is cytosolic but when coexpressed with RHOD, the 2 proteins colocalize to early endosomes
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
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.
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
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.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.

3 GO annotations of molecular function

Name	Definition
actin binding	Binding to monomeric or multimeric forms of actin, including actin filaments.
signaling receptor binding	Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.
small GTPase binding	Binding to a small monomeric GTPase.

3 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.
female gamete generation	Generation of the female gamete; specialised haploid cells produced by meiosis and along with a male gamete takes part in sexual reproduction.
oogenesis	The complete process of formation and maturation of an ovum or female gamete from a primordial female germ cell. Examples of this process are found in Mus musculus and Drosophila melanogaster.

9 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P48608	dia	Protein diaphanous	Drosophila melanogaster (Fruit fly)	EV
Q27J81	INF2	Inverted formin-2	Homo sapiens (Human)	EV
O60610	DIAPH1	Protein diaphanous homolog 1	Homo sapiens (Human)	SS
Q9NSV4	DIAPH3	Protein diaphanous homolog 3	Homo sapiens (Human)	SS
Q9Z207	Diaph3	Protein diaphanous homolog 3	Mus musculus (Mouse)	SS
O08808	Diaph1	Protein diaphanous homolog 1	Mus musculus (Mouse)	EV
O70566	Diaph2	Protein diaphanous homolog 2	Mus musculus (Mouse)	SS
F1LVW7	Diaph3	Protein diaphanous homolog 3	Rattus norvegicus (Rat)	SS
F1M775	Diaph1	Protein diaphanous homolog 1	Rattus norvegicus (Rat)	SS

10	20	30	40	50	60
MEQPGAAASG	AGGGSEEPGG	GRSNKRSAGN	RAANEEETKN	KPKLNIQIKT	LADDVRDRIT
70	80	90	100	110	120
SFRKSTVKKE	KPLIQHPIDS	QVAMSEFPAA	QPLYDERSLN	LSEKEVLDLF	EKMMEDMNLN
130	140	150	160	170	180
EEKKAPLRNK	DFTTKREMVV	QYISATAKSG	GLKNSKHECT	LSSQEYVHEL	RSGISDEKLL
190	200	210	220	230	240
NCLESLRVSL	TSNPVSWVNN	FGHEGLGLLL	DELEKLLDKK	QQENIDKKNQ	YKLIQCLKAF
250	260	270	280	290	300
MNNKFGLQRI	LGDERSLLLL	ARAIDPKQPN	MMTEIVKILS	AICIVGEENI	LDKLLGAITT
310	320	330	340	350	360
AAERNNRERF	SPIVEGLENQ	EALQLQVACM	QFINALVTSP	YELDFRIHLR	NEFLRSGLKT
370	380	390	400	410	420
MLPDLKEKEN	DELDIQLKVF	DENKEDDLTE	LSHRLNDIRA	EMDDMNEVYH	LLYNMLKDTA
430	440	450	460	470	480
AENYFLSILQ	HFLLIRNDYY	IRPQYYKIIE	ECVSQIVLHC	SGMDPDFKYR	QRLDIDLTHL
490	500	510	520	530	540
IDSCVNKAKV	EESEQKAAEF	SKKFDEEFTA	RQEAQAELQK	RDEKIKELEA	EIQQLRTQAQ
550	560	570	580	590	600
VLSSSSGIPG	PPAAPPLPGV	GPPPPPPAPP	LPGGAPLPPP	PPPLPGMMGI	PPPPPPPLLF
610	620	630	640	650	660
GGPPPPPPLG	GVPPPPGISL	NLPYGMKQKK	MYKPEVSMKR	INWSKIEPTE	LSENCFWLRV
670	680	690	700	710	720
KEDKFENPDL	FAKLALNFAT	QIKVQKNAEA	LEEKKTGPTK	KKVKELRILD	PKTAQNLSIF
730	740	750	760	770	780
LGSYRMPYED	IRNVILEVNE	DMLSEALIQN	LVKHLPEQKI	LNELAELKNE	YDDLCEPEQF
790	800	810	820	830	840
GVVMSSVKML	QPRLSSILFK	LTFEEHINNI	KPSIIAVTLA	CEELKKSESF	NRLLELVLLV
850	860	870	880	890	900
GNYMNSGSRN	AQSLGFKINF	LCKIRDTKSA	DQKTTLLHFI	ADICEEKYRD	ILKFPEELEH
910	920	930	940	950	960
VESASKVSAQ	ILKSNLASME	QQIVHLERDI	KKFPQAENQH	DKFVEKMTSF	TKTAREQYEK
970	980	990	1000	1010	1020
LSTMHNNMMK	LYENLGEYFI	FDSKTVSIEE	FFGDLNNFRT	LFLEAVRENN	KRREMEEKTR
1030	1040	1050	1060	1070	1080
RAKLAKEKAE	QEKLERQKKK	KQLIDINKEG	DETGVMDNLL	EALQSGAAFR	DRRKRIPRNP
1090	1100
DNRRVPLERS	RSRHNGAISS	K