AiPD: Autoinhibited Protein Database

Q07960

Gene name	ARHGAP1 (CDC42GAP, RHOGAP1)
Protein name	Rho GTPase-activating protein 1
Names	CDC42 GTPase-activating protein, GTPase-activating protein rhoGAP, Rho-related small GTPase protein activator, Rho-type GTPase-activating protein 1, p50-RhoGAP
Species	Homo sapiens (Human)
KEGG Pathway	hsa:392
EC number
Protein Class	RHO GTPASE-ACTIVATING PROTEIN 68F (PTHR45808)

Descriptions

Rho GTPase-activating protein 1 (p50RhoGAP) comprises an N-terminal BCH domain and a C-terminal GAP domain separated by a proline-rich region. p50RhoGAP contains a non-canonical RhoA-binding motif in its BCH domain and is associated with GAP-mediated cell rounding. In the autoinhibited state, the GAP catalytic residue is being occluded and incapable of RhoA inactivation, and it only becomes accessible upon the release of autoinhibition of GAP from the BCH domain. The lipid binding to BCH domain may initiate the transition for the release of GAP domain from the inactive state to the active state of p50RhoGAP. This leads to the activation of the GAP domain of p50RhoGAP, resulting in the GAP-mediated GTPase inactivation of RhoA.

Autoinhibitory domains (AIDs)

Target domain	244-431 (RhoGAP domain)
Relief mechanism	Ligand binding
Assay	Mutagenesis experiment

AID

63-218 (Lipid binding domain, BCH domain)

Target domain

244-431 (RhoGAP domain)

Relief mechanism

Ligand binding (Lipid binding to BCH domain)

Assay

Mutagenesis experiment

Accessory elements

No accessory elements

References

Moskwa P et al. (2005) "Autoinhibition of p50 Rho GTPase-activating protein (GAP) is released by prenylated small GTPases", The Journal of biological chemistry, 280, 6716-20

Chichili VPR et al. (2021) "Structural basis for p50RhoGAP BCH domain-mediated regulation of Rho inactivation", Proceedings of the National Academy of Sciences of the United States of America, 118,

Autoinhibited structure

Activated structure

12 structures for Q07960

Entry ID	Method	Resolution	Chain	Position	Source
1AM4	X-ray	270 A	A/B/C	233-431	PDB
1GRN	X-ray	210 A	B	237-439	PDB
1OW3	X-ray	180 A	A	198-439	PDB
1RGP	X-ray	200 A	A	198-439	PDB
1TX4	X-ray	165 A	A	234-431	PDB
2NGR	X-ray	190 A	B	206-439	PDB
5M6X	X-ray	240 A	A/H	198-437	PDB
5M70	X-ray	220 A	A/F	198-437	PDB
6R3V	X-ray	175 A	A	1-439	PDB
7QSC	X-ray	191 A	A/C	198-439	PDB
7QTM	X-ray	225 A	A/H	198-439	PDB
AF-Q07960-F1	Predicted				AlphaFoldDB

294 variants for Q07960

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs747032432 CA5966147	3	P>L		No	ClinGen ExAC TOPMed gnomAD
rs747032432 CA380250810	3	P>R		No	ClinGen ExAC TOPMed gnomAD
CA5966148 rs773998207	3	P>S		No	ClinGen ExAC gnomAD
CA5966145 rs747849153	4	L>F		No	ClinGen ExAC TOPMed gnomAD
CA380250751 rs1435733057	9	D>N		No	ClinGen gnomAD
CA380250702 rs1327750500	14	D>H		No	ClinGen gnomAD
CA380250666 rs1592393294	17	S>N		No	ClinGen Ensembl
CA5966141 rs566681425	18	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5966140 rs747131554	19	A>P		No	ClinGen ExAC gnomAD
rs1463704476 CA380250642	19	A>V		No	ClinGen TOPMed
CA380250610 rs1189965240	23	L>M		No	ClinGen gnomAD
CA380250605 rs1169602059	23	L>P		No	ClinGen TOPMed
CA5966137 rs754549621	28	I>M		No	ClinGen ExAC TOPMed gnomAD
CA5966138 rs552928389	28	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs778939137 CA5966135	29	D>N		No	ClinGen ExAC gnomAD
CA221626093 rs368198060	32	N>S		No	ClinGen ESP TOPMed
rs778396123 CA221626087	35	S>L		No	ClinGen TOPMed gnomAD
CA5966133 rs752531676	36	D>N		No	ClinGen ExAC gnomAD
rs1405088589 CA380250399	41	F>L		No	ClinGen gnomAD
rs535881239 CA5966132	42	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA380250348 rs1171001083	45	D>H		No	ClinGen gnomAD
rs1043622571 CA221626019	47	S>C		No	ClinGen gnomAD
rs1043622571 CA380250280	47	S>F		No	ClinGen gnomAD
rs1259072019 CA380250269	48	K>R		No	ClinGen gnomAD
rs1214349338 CA380250265	49	S>G		No	ClinGen TOPMed gnomAD
CA380250253 rs1485463632	50	S>T		No	ClinGen gnomAD
CA5966107 rs189963672	52	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5966108 rs189963672	52	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA380250241 rs1319738327	52	P>S		No	ClinGen gnomAD
CA5966105 rs776212753	56	T>I		No	ClinGen ExAC gnomAD
rs1317700550 CA380250152	61	D>N		No	ClinGen TOPMed
rs1274019437 CA380250103	65	Y>D		No	ClinGen gnomAD
CA380250064 rs1056661324	68	A>S		No	ClinGen TOPMed gnomAD
rs1056661324 CA221625997	68	A>T		No	ClinGen TOPMed gnomAD
CA380250052 rs1419571885	69	R>Q		No	ClinGen TOPMed gnomAD
RCV000895606 CA5966103 rs760960194	69	R>W		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA5966102 rs530122373	71	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
CA5966101 rs555187498	73	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1487372046 CA380249993	75	V>M		No	ClinGen gnomAD
CA380249984 rs928722782	76	A>P		No	ClinGen TOPMed gnomAD
CA221625990 rs928722782	76	A>S		No	ClinGen TOPMed gnomAD
CA380248620 rs1592388542	79	D>E		No	ClinGen Ensembl
rs1379319700 CA380248628	79	D>G		No	ClinGen TOPMed
CA380248626 rs1379319700	79	D>V		No	ClinGen TOPMed
rs1395521611 CA380248630	79	D>Y		No	ClinGen TOPMed
rs763062328 CA5966077	80	K>E		No	ClinGen ExAC gnomAD
CA221623855 rs1050256807	80	K>T		No	ClinGen TOPMed
COSM1240854 CA5966074 rs138980294	83	R>Q	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA5966075 rs770134284	83	R>W		No	ClinGen ExAC TOPMed gnomAD
CA5966073 rs779690962	86	I>L		No	ClinGen ExAC TOPMed
CA380248521 rs771850834	89	S>G		No	ClinGen ExAC gnomAD
rs771850834 CA5966072	89	S>R		No	ClinGen ExAC gnomAD
rs745820689 CA5966071	90	A>G		No	ClinGen ExAC gnomAD
rs369424318 CA5966070	92	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1184658461 CA380248441	95	P>L		No	ClinGen gnomAD
rs756770565 CA5966069	96	S>G		No	ClinGen ExAC gnomAD
CA380248419 rs1256978318	97	H>Q		No	ClinGen gnomAD
rs1282786737 CA380248391	100	D>G		No	ClinGen gnomAD
rs537320455 CA5966067	100	D>N		No	ClinGen ExAC TOPMed gnomAD
rs537320455 CA221623835	100	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1395357417 CA380248375	101	H>Q		No	ClinGen TOPMed
CA380248382 rs1351891321	101	H>Y		No	ClinGen gnomAD
rs755736243 CA5966066	104	L>F		No	ClinGen ExAC TOPMed gnomAD
CA380247128 rs1270191836	110	H>Q		No	ClinGen gnomAD
rs1229427747 CA380247104	112	L>P		No	ClinGen gnomAD
CA380247099 rs1359302870	113	D>N		No	ClinGen gnomAD
CA5966049 rs755576810	114	Q>H		No	ClinGen ExAC gnomAD
CA380247064 rs1328870712	115	Y>H		No	ClinGen gnomAD
CA221620962 rs1008839833	116	V>M		No	ClinGen TOPMed
CA5966047 rs780834110	117	E>Q		No	ClinGen ExAC gnomAD
CA5966045 rs142129373	118	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA5966042 rs564406586	127	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA5966041 rs541312809	128	G>S		No	ClinGen 1000Genomes ExAC TOPMed
rs761884877 CA380246828	130	T>I		No	ClinGen ExAC TOPMed gnomAD
rs761884877 CA5966039	130	T>S		No	ClinGen ExAC TOPMed gnomAD
CA5966038 rs529565886	131	S>R		No	ClinGen ExAC gnomAD
rs1250456373 CA380246798	132	D>E		No	ClinGen TOPMed gnomAD
CA5966037 rs764362910	132	D>N		No	ClinGen ExAC TOPMed gnomAD
rs200896739 CA5966035	133	N>K		No	ClinGen 1000Genomes ExAC gnomAD
CA5966036 rs759314282	133	N>S		No	ClinGen ExAC TOPMed gnomAD
CA380246763 rs1253204952	135	P>L		No	ClinGen gnomAD
CA380246754 rs868106579	136	S>C		No	ClinGen gnomAD
rs868106579 CA221620947	136	S>F		No	ClinGen gnomAD
rs1271760628 CA380246745	137	L>P		No	ClinGen gnomAD
rs770905394 CA5966034	137	L>V		No	ClinGen ExAC gnomAD
rs749246639 CA5966033	140	L>F		No	ClinGen ExAC gnomAD
rs1341316225 CA380246696	141	R>C		No	ClinGen gnomAD
CA5966032 rs773098457	141	R>H		No	ClinGen ExAC gnomAD
rs1446589118 CA380246685	142	D>H		No	ClinGen gnomAD
rs769195308 CA5966031	144	Y>*		No	ClinGen ExAC gnomAD
rs1326804572 CA380246642	145	R>Q		No	ClinGen TOPMed gnomAD
rs747638718 CA5966030	145	R>W		No	ClinGen ExAC gnomAD
CA5966028 rs138044269	149	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5966027 rs138044269	149	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA5966026 rs150422490	149	R>H		No	ClinGen ESP ExAC gnomAD
rs758791980 CA5966025	150	K>R		No	ClinGen ExAC gnomAD
rs4268467 CA380246436	153	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs4268467 CA380246440	153	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA380246394 rs1406743979	156	K>R		No	ClinGen gnomAD
rs779781985 CA5966008	158	L>V		No	ClinGen ExAC gnomAD
rs1192343368 CA380246353	159	Y>C		No	ClinGen TOPMed
CA5966007 rs185685027	160	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778610011 CA5966006	161	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5966005 rs778610011	161	V>M		No	ClinGen ExAC TOPMed gnomAD
CA380246318 rs1209531028	162	H>Y		No	ClinGen gnomAD
rs1257708356 CA380246268	164	T>A		No	ClinGen TOPMed gnomAD
CA380246233 rs1592384516	165	M>I		No	ClinGen Ensembl
CA5966003 rs753916174	165	M>V		No	ClinGen ExAC gnomAD
CA380246137 rs1306532731	169	T>I		No	ClinGen TOPMed gnomAD
CA380246151 rs1592384514	169	T>P		No	ClinGen Ensembl
rs201813474 CA221620777	170	L>V		No	ClinGen Ensembl
rs376979825 CA221620774	175	K>N		No	ClinGen ESP
CA5966002 rs151245025	176	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA380245823 rs760327719	182	F>L		No	ClinGen ExAC TOPMed gnomAD
CA5965971 rs775108640	183	G>E		No	ClinGen ExAC gnomAD
CA380245791 rs1190217745	184	Q>*		No	ClinGen gnomAD
CA221620701 rs977733006	186	I>M		No	ClinGen Ensembl
CA221620700 rs966381557	187	F>Y		No	ClinGen TOPMed gnomAD
rs566268205 CA5965970 COSM119799	188	Y>C	ovary [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed
rs1178507009 CA380245688	188	Y>H		No	ClinGen TOPMed
rs773837769 CA5965968	193	S>N		No	ClinGen ExAC gnomAD
rs115951462 CA5965966	194	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773830440 CA5965965	195	L>R		No	ClinGen ExAC gnomAD
CA221620688 rs113273807	196	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143532550 CA5965963	197	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141220442 CA221620683	198	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5965961 rs568708140	199	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA380245290 rs1392085252	205	G>V		No	ClinGen gnomAD
rs1295890068 CA380245254	208	R>C		No	ClinGen TOPMed gnomAD
CA380245251 rs1273718730	208	R>H		No	ClinGen TOPMed
CA380245239 rs747255016	209	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA5965930 rs766098806	215	D>N		No	ClinGen ExAC gnomAD
rs762494329 CA5965929	219	S>Y		No	ClinGen ExAC gnomAD
rs772878297 CA5965928	221	Q>*		No	ClinGen ExAC gnomAD
rs1237956979 CA380244463	221	Q>H		No	ClinGen gnomAD
rs765588008 CA5965927	222	K>E		No	ClinGen ExAC TOPMed gnomAD
CA5965926 rs762103529	222	K>R		No	ClinGen ExAC gnomAD
rs1412401799 CA380244432	223	S>N		No	ClinGen gnomAD
CA380244424 rs777176464	223	S>R		No	ClinGen ExAC gnomAD
rs200224571 CA5965920	225	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs200224571 CA5965919	225	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA5965922 rs772140895	225	A>S		No	ClinGen ExAC TOPMed gnomAD
CA5965921 rs772140895	225	A>T		No	ClinGen ExAC TOPMed gnomAD
rs200224571 CA5965918	225	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5965916 rs781348427	227	A>D		No	ClinGen ExAC gnomAD
CA380244353 rs1412989329	227	A>T		No	ClinGen gnomAD
CA380244345 rs781348427	227	A>V		No	ClinGen ExAC gnomAD
rs1200154539 CA380244314	230	P>S		No	ClinGen TOPMed
CA380244306 rs1257398057	231	M>V		No	ClinGen gnomAD
CA380244264 rs1444476627	233	P>L		No	ClinGen TOPMed gnomAD
CA380244266 rs1444476627	233	P>R		No	ClinGen TOPMed gnomAD
rs1458932654 CA380244271	233	P>S		No	ClinGen TOPMed
CA380244257 rs1204926390	234	R>Q		No	ClinGen gnomAD
rs763362621 CA5965914	234	R>W		No	ClinGen ExAC TOPMed gnomAD
rs572555794 CA5965911	235	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs572555794 CA5965909	235	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs572555794 CA5965910	235	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757855285 CA5965912	235	P>S		No	ClinGen ExAC gnomAD
CA5965908 rs750706312	236	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1284690836 CA380244232	236	P>R		No	ClinGen gnomAD
CA5965904 rs772050568	237	L>M		No	ClinGen ExAC TOPMed gnomAD
rs772050568 CA380244218	237	L>V		No	ClinGen ExAC TOPMed gnomAD
CA380244196 rs1435570884	238	P>S		No	ClinGen gnomAD
CA5965901 rs759604331	239	N>S		No	ClinGen ExAC gnomAD
rs774771804 CA5965900	240	Q>K		No	ClinGen ExAC gnomAD
rs1303488052 CA380244066	242	F>L		No	ClinGen TOPMed
rs747999942 CA5965898	245	S>L		No	ClinGen ExAC TOPMed gnomAD
rs771274873 CA5965899	245	S>P		No	ClinGen ExAC gnomAD
CA221620546 rs768452427	248	H>L		No	ClinGen ExAC TOPMed gnomAD
rs768452427 CA5965896	248	H>P		No	ClinGen ExAC TOPMed gnomAD
rs775352237 CA5965877	250	Q>H		No	ClinGen ExAC
CA5965876 rs772012046	252	K>E		No	ClinGen ExAC TOPMed
rs762080711 CA5965875	252	K>R		No	ClinGen ExAC gnomAD
rs778417367 CA5965874	253	N>I		No	ClinGen ExAC TOPMed gnomAD
rs748943036 CA5965872	254	P>L		No	ClinGen ExAC gnomAD
CA5965873 rs139663325	254	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA221620505 rs899048936	257	E>K		No	ClinGen TOPMed
CA5965870 rs756496497	259	I>V		No	ClinGen ExAC TOPMed gnomAD
rs368063556 CA5965869	261	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1438671298 CA380243581	261	I>T		No	ClinGen gnomAD
rs368063556 CA380243591	261	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5965867 RCV000883130 rs144801476	263	L>F		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs752068017 CA5965866	264	R>T		No	ClinGen ExAC gnomAD
CA5965864 rs763066412	267	V>F		No	ClinGen ExAC TOPMed gnomAD
CA5965863 rs773361751	268	A>P		No	ClinGen ExAC gnomAD
rs1425392845 CA380243422	268	A>V		No	ClinGen gnomAD
rs1192618110 CA380243404	269	Y>F		No	ClinGen gnomAD
rs760424122 CA5965861	274	A>T		No	ClinGen ExAC TOPMed gnomAD
CA380243107 rs1458341266	278	E>A		No	ClinGen gnomAD
rs1320864779 CA380243130	278	E>K		No	ClinGen gnomAD
CA5965834 rs182312996	282	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747370135 CA5965832	284	S>L		No	ClinGen ExAC gnomAD
CA221620437 rs868227132	285	A>T		No	ClinGen gnomAD
CA380242826 rs1247616922	287	T>N		No	ClinGen gnomAD
rs201607201 CA5965828	288	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5965826 rs754102804 COSM927258	291	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs757217620 CA5965827	291	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1303493733 CA380242690	292	E>A		No	ClinGen TOPMed
rs759394372 CA5965824	297	Y>C		No	ClinGen ExAC gnomAD
CA380242461 rs1262070465	299	M>I		No	ClinGen gnomAD
rs751326537 CA5965823	299	M>V		No	ClinGen ExAC TOPMed gnomAD
CA5965805 rs778011164	300	G>A		No	ClinGen ExAC TOPMed gnomAD
rs1180121856 CA380242288	302	P>L		No	ClinGen gnomAD
rs752868732 CA5965803	303	V>A		No	ClinGen ExAC gnomAD
rs766196029 CA5965802	304	D>Y		No	ClinGen ExAC gnomAD
rs139115484 CA221620286	306	D>N		No	ClinGen ESP TOPMed gnomAD
rs750391894 CA5965800	307	Q>H		No	ClinGen ExAC gnomAD
rs761422655 CA5965798	309	N>D		No	ClinGen ExAC TOPMed gnomAD
CA221620282 rs761422655	309	N>H		No	ClinGen ExAC TOPMed gnomAD
CA5965797 rs371842019	309	N>S		No	ClinGen ExAC gnomAD
CA5965796 rs763646448	311	L>M		No	ClinGen ExAC TOPMed gnomAD
rs760433907 CA5965795	312	H>P		No	ClinGen ExAC gnomAD
rs1394048344 CA380241975	314	P>L		No	ClinGen gnomAD
CA380241880 rs1466689042	318	L>V		No	ClinGen gnomAD
rs749420115 CA5965789	323	R>Q		No	ClinGen ExAC gnomAD
rs544447260 CA5965790	323	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA380241731 rs1156396208	324	E>K		No	ClinGen Ensembl
CA380241698 rs1258037073	325	L>F		No	ClinGen TOPMed
rs1185045150 CA380241682	326	P>R		No	ClinGen gnomAD
CA221620260 rs113094912	327	E>D		No	ClinGen gnomAD
CA380241651 rs1201403616	328	P>A		No	ClinGen gnomAD
rs765265297 CA5965782	333	D>E		No	ClinGen ExAC gnomAD
rs750150951 CA5965783	333	D>N		No	ClinGen ExAC gnomAD
CA380241418 rs1242608788	336	P>H		No	ClinGen gnomAD
rs1592383029 CA380241393	337	H>L		No	ClinGen Ensembl
CA5965780 rs753784390	339	V>A		No	ClinGen ExAC gnomAD
rs909055867 CA221620249	339	V>L		No	ClinGen TOPMed
rs150718407 CA5965765	344	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA380241096 rs1342111968	345	D>G		No	ClinGen TOPMed
rs778600249 CA5965764	346	E>K		No	ClinGen ExAC gnomAD
rs1216528327 CA380241004	349	R>W		No	ClinGen TOPMed
rs757043724 CA5965763	351	P>A		No	ClinGen ExAC TOPMed gnomAD
rs777839644 CA5965761	352	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5965760 rs142672718	352	A>V		No	ClinGen ESP ExAC gnomAD
CA5965758 rs767250150	356	V>I		No	ClinGen ExAC gnomAD
CA5965757 rs759134220	359	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1592382847 CA380240761	360	L>R		No	ClinGen Ensembl
rs936701614 CA221620160	362	E>G		No	ClinGen gnomAD
rs770285908 CA5965752	362	E>K		No	ClinGen ExAC TOPMed gnomAD
rs761925290 CA221620156	363	E>D		No	ClinGen ExAC TOPMed
CA380240698 rs1487121221	363	E>K		No	ClinGen TOPMed
rs1273719270 CA599372224	365	Y>*		No	ClinGen gnomAD
rs367590178 CA221620154	365	Y>H		No	ClinGen ESP TOPMed
rs1339970645 CA380240612	366	Q>E		No	ClinGen gnomAD
CA380240598 rs1424834232	366	Q>R		No	ClinGen TOPMed
rs1228839515 CA380240549	368	L>P		No	ClinGen gnomAD
rs11822837 CA5965750 VAR_049137 RCV000895311	369	R>C		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs147210555 CA5965749	369	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA380240540 rs11822837	369	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA221620147 rs947849528	370	F>S		No	ClinGen TOPMed gnomAD
CA5965747 rs764099533	373	A>P		No	ClinGen ExAC TOPMed gnomAD
CA5965746 rs764099533	373	A>T		No	ClinGen ExAC TOPMed gnomAD
rs970350540 CA221620133	375	L>M		No	ClinGen TOPMed gnomAD
CA380240382 rs1168398919	375	L>R		No	ClinGen gnomAD
CA380240391 rs970350540	375	L>V		No	ClinGen TOPMed gnomAD
CA221620131 rs374411055	376	V>M		No	ClinGen ESP TOPMed
rs750759610 CA380240229	380	A>G		No	ClinGen ExAC TOPMed gnomAD
CA5965734 rs750759610	380	A>V		No	ClinGen ExAC TOPMed gnomAD
CA5965732 rs200846104	381	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs765532690 CA5965733	381	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs371098034 CA5965731	384	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA380240023 rs1469191882	388	T>S		No	ClinGen Ensembl
CA221620093 rs375462264	388	T>S		No	ClinGen gnomAD
rs1481494145 CA380240005	389	N>D		No	ClinGen gnomAD
rs775640402 CA5965728	394	V>L		No	ClinGen ExAC gnomAD
CA380239882 rs1263951695	395	V>I		No	ClinGen gnomAD
rs773061818 CA5965726	397	G>S		No	ClinGen ExAC gnomAD
CA380239781 rs1288278606	398	P>L		No	ClinGen gnomAD
rs773164486 CA5965724	400	L>V		No	ClinGen ExAC TOPMed gnomAD
CA5965722 rs748042272	406	A>T		No	ClinGen ExAC gnomAD
COSM1298073 rs781128615 CA5965721	406	A>V	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA380239462 COSM927255 rs1338239627	408	I>V	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA221620076 rs903854656	411	K>E		No	ClinGen Ensembl
rs779726260 CA5965718	412	A>V		No	ClinGen ExAC gnomAD
rs143757053 CA5965716	415	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs143757053 CA380239295	415	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5965715 rs765587887	420	T>I		No	ClinGen ExAC gnomAD
rs1472977724 CA380239137	421	K>R		No	ClinGen gnomAD
CA380239071 rs1289693500	423	L>F		No	ClinGen TOPMed gnomAD
rs531251302 CA5965713	428	G>E		No	ClinGen ExAC gnomAD
CA5965714 rs757581559	428	G>R		No	ClinGen ExAC gnomAD
rs760707506 CA5965711	431	F>L		No	ClinGen ExAC gnomAD
rs1216563287 CA380238827	432	P>Q		No	ClinGen gnomAD
CA380238813 rs1319295903	433	S>G		No	ClinGen gnomAD
CA221620061 rs868709642	433	S>I		No	ClinGen Ensembl
rs868709642 CA221620063	433	S>T		No	ClinGen Ensembl
rs775689729 CA5965710	434	P>L		No	ClinGen ExAC TOPMed gnomAD
CA380238747 rs1592382490	435	D>A		No	ClinGen Ensembl
rs1333346162 CA380238723	435	D>E		No	ClinGen TOPMed
CA5965708 rs528899760	436	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA380238710 rs528899760	436	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA380238668 rs1565684185	437	S>G		No	ClinGen Ensembl
CA5965706 rs774650795	437	S>N		No	ClinGen ExAC gnomAD
rs747965330 CA5965704	438	G>R		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q07960

2 regional properties for Q07960

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	Cytoplasm
PANTHER Family	PTHR45808	RHO GTPASE-ACTIVATING PROTEIN 68F
PANTHER Subfamily	PTHR45808:SF6	RHO GTPASE-ACTIVATING PROTEIN 1
PANTHER Protein Class	GTPase-activating protein
PANTHER Pathway Category	VEGF signaling pathway Rac Angiogenesis Rac Cytoskeletal regulation by Rho GTPase Rho GAPs PDGF signaling pathway Rho

5 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endosome membrane	The lipid bilayer surrounding an endosome.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.

4 GO annotations of molecular function

Name	Definition
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.
GTPase activator activity	Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.
SH3 domain binding	Binding to a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins.
small GTPase binding	Binding to a small monomeric GTPase.

6 GO annotations of biological process

Name	Definition
endosomal transport	The directed movement of substances mediated by an endosome, a membrane-bounded organelle that carries materials enclosed in the lumen or located in the endosomal membrane.
negative regulation of endocytic recycling	Any process that stops, prevents or reduces the frequency, rate or extent of endocytic recycling.
regulation of small GTPase mediated signal transduction	Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction.
Rho protein signal transduction	The series of molecular signals within the cell that are mediated by a member of the Rho family of proteins switching to a GTP-bound active state.
small GTPase mediated signal transduction	The series of molecular signals in which a small monomeric GTPase relays a signal.
transferrin transport	The directed movement of transferrin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9VTU3	RhoGAP68F	Rho GTPase-activating protein 68F	Drosophila melanogaster (Fruit fly)	PR
P85298	ARHGAP8	Rho GTPase-activating protein 8	Homo sapiens (Human)	SS
Q5FWK3	Arhgap1	Rho GTPase-activating protein 1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MDPLSELQDD	LTLDDTSEAL	NQLKLASIDE	KNWPSDEMPD	FPKSDDSKSS	SPELVTHLKW
70	80	90	100	110	120
DDPYYDIARH	QIVEVAGDDK	YGRKIIVFSA	CRMPPSHQLD	HSKLLGYLKH	TLDQYVESDY
130	140	150	160	170	180
TLLYLHHGLT	SDNKPSLSWL	RDAYREFDRK	YKKNIKALYI	VHPTMFIKTL	LILFKPLISF
190	200	210	220	230	240
KFGQKIFYVN	YLSELSEHVK	LEQLGIPRQV	LKYDDFLKST	QKSPATAPKP	MPPRPPLPNQ
250	260	270	280	290	300
QFGVSLQHLQ	EKNPEQEPIP	IVLRETVAYL	QAHALTTEGI	FRRSANTQVV	REVQQKYNMG
310	320	330	340	350	360
LPVDFDQYNE	LHLPAVILKT	FLRELPEPLL	TFDLYPHVVG	FLNIDESQRV	PATLQVLQTL
370	380	390	400	410	420
PEENYQVLRF	LTAFLVQISA	HSDQNKMTNT	NLAVVFGPNL	LWAKDAAITL	KAINPINTFT
430
KFLLDHQGEL	FPSPDPSGL