AiPD: Autoinhibited Protein Database

O75689

Gene name	ADAP1 (CENTA1)
Protein name	Arf-GAP with dual PH domain-containing protein 1
Names	Centaurin-alpha-1, Cnt-a1, Putative MAPK-activating protein PM25
Species	Homo sapiens (Human)
KEGG Pathway	hsa:11033
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

49-131 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

49-131 (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

5 structures for O75689

Entry ID	Method	Resolution	Chain	Position	Source
3FEH	X-ray	190 A	A	3-370	PDB
3FM8	X-ray	230 A	C/D	1-374	PDB
3LJU	X-ray	170 A	X	3-370	PDB
3MDB	X-ray	295 A	C/D	1-374	PDB
AF-O75689-F1	Predicted				AlphaFoldDB

338 variants for O75689

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1180223847 CA366551775	3	K>R		No	ClinGen gnomAD
rs1181709820 CA366551733	4	E>D		No	ClinGen TOPMed
rs1048321054 CA152399292	5	R>W		No	ClinGen TOPMed gnomAD
rs1485127342 CA366551713	6	R>C		No	ClinGen TOPMed gnomAD
CA366551714 rs1485127342	6	R>G		No	ClinGen TOPMed gnomAD
CA366551703 rs1255188472	6	R>L		No	ClinGen gnomAD
CA366551705 rs1255188472	6	R>P		No	ClinGen gnomAD
CA366551662 rs1483545250	9	V>I		No	ClinGen gnomAD
CA366551616 rs1260007840	10	L>P		No	ClinGen gnomAD
CA152399279 rs906942596	13	L>Q		No	ClinGen TOPMed
rs1460552470 CA366551526	15	R>Q		No	ClinGen TOPMed
CA366551530 rs1318762147	15	R>W		No	ClinGen gnomAD
CA366551515 rs1268410462	16	P>L		No	ClinGen gnomAD
CA366551512 rs1402119335	17	G>R		No	ClinGen TOPMed
rs1353796994 CA366551474	19	A>P		No	ClinGen TOPMed gnomAD
CA366551450 rs1295557027	20	R>L		No	ClinGen gnomAD
CA366551410 rs1450332587	22	A>V		No	ClinGen TOPMed
CA152399270 rs948350289	26	A>V		No	ClinGen TOPMed gnomAD
CA366551293 rs1346502856	27	P>L		No	ClinGen gnomAD
CA366551296 rs1451020692	27	P>S		No	ClinGen gnomAD
rs760227298 CA152382064	29	P>A		No	ClinGen ExAC TOPMed gnomAD
rs773021629 CA4114051	29	P>H		No	ClinGen ExAC TOPMed gnomAD
rs760227298 CA4114052	29	P>S		No	ClinGen ExAC TOPMed gnomAD
CA366546302 rs771734168 CA4114050	30	D>E		No	ClinGen ExAC gnomAD
rs1248501892 CA366546315	30	D>N		No	ClinGen gnomAD
CA152382041 rs1003113111	31	W>R		No	ClinGen TOPMed
rs868551287 CA152382039	32	A>T		No	ClinGen Ensembl
rs1306607592 CA366546275	32	A>V		No	ClinGen TOPMed
rs867987960 CA152382035	34	Y>*		No	ClinGen Ensembl
rs906083999 CA152382037	34	Y>C		No	ClinGen TOPMed
rs865869561 CA152382027	38	V>F		No	ClinGen gnomAD
CA366546159 rs865869561	38	V>I		No	ClinGen gnomAD
CA366546095 rs1250045804	40	I>M		No	ClinGen gnomAD
rs1229999654 CA366546033	43	S>G		No	ClinGen gnomAD
rs1324571416 CA366546007	44	C>R		No	ClinGen Ensembl
rs1368212963 CA366545928	46	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs774193153 CA4114048	46	G>R		No	ClinGen ExAC TOPMed gnomAD
CA152382021 COSM1684892 rs868791470	48	H>Y	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1324922336 CA366545886	49	R>Q		No	ClinGen gnomAD
CA366545837 rs1342475548	52	P>H		No	ClinGen TOPMed
CA366545840 rs1387064202	52	P>S		No	ClinGen gnomAD
rs768277152 CA4114047	53	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA366545749 rs1390739926	58	K>E		No	ClinGen gnomAD
rs1452474123 CA366545723	59	S>F		No	ClinGen gnomAD
CA366545720 rs141244581	60	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA4114044 rs141244581	60	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4114043 rs747065990	61	R>C		No	ClinGen ExAC gnomAD
CA4114042 rs567958546	61	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA366545671 rs1280040888	64	A>P		No	ClinGen gnomAD
rs1280040888 CA366545669	64	A>T		No	ClinGen gnomAD
rs866817793 CA152382006	66	E>*		No	ClinGen Ensembl
rs753057723 CA366545552 CA152381995	67	E>D		No	ClinGen ExAC TOPMed gnomAD
CA152381985 rs868666844	68	A>D		No	ClinGen Ensembl
rs866107596 CA152381990	68	A>S		No	ClinGen TOPMed
rs866107596 CA366545548	68	A>T		No	ClinGen TOPMed
rs1350681536 CA366545471	70	V>G		No	ClinGen gnomAD
TCGA novel	70	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366545462 rs1276170678	71	E>G		No	ClinGen gnomAD
TCGA novel	71	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1022391746 CA366541369	76	H>D		No	ClinGen TOPMed gnomAD
CA152372418 rs1022391746	76	H>N		No	ClinGen TOPMed gnomAD
rs539010339 CA366541307	79	D>A		No	ClinGen 1000Genomes TOPMed gnomAD
rs539010339 CA152372408	79	D>G		No	ClinGen 1000Genomes TOPMed gnomAD
rs770303688 CA4113981	79	D>N		No	ClinGen ExAC TOPMed gnomAD
rs770303688 CA366541309	79	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1047714903 CA152372400	80	A>D		No	ClinGen TOPMed gnomAD
rs1009188798 CA152372404	80	A>T		No	ClinGen TOPMed gnomAD
CA4113977 rs376277744	81	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1029124712 CA152372390	81	A>T		No	ClinGen TOPMed gnomAD
rs376277744 CA4113978	81	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1404494466 CA366541263	82	R>K		No	ClinGen TOPMed gnomAD
CA366541266 rs1404494466	82	R>T		No	ClinGen TOPMed gnomAD
rs1456926809 CA366541243	83	A>P		No	ClinGen TOPMed gnomAD
rs1456926809 CA366541249	83	A>T		No	ClinGen TOPMed gnomAD
CA366541239 rs1409945914	83	A>V		No	ClinGen gnomAD
rs549917492 CA4113975	84	R>T		No	ClinGen 1000Genomes ExAC gnomAD
rs531155380 CA4113974	91	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1583169730 CA366541012	94	Y>S		No	ClinGen Ensembl
rs148979654 CA366540992	95	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4113973 rs148979654	95	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs940331251 CA366540970	97	T>K		No	ClinGen TOPMed gnomAD
rs940331251 CA152372361	97	T>M		No	ClinGen TOPMed gnomAD
rs1583169722 CA366540976	97	T>P		No	ClinGen Ensembl
rs948371766 CA152372357	99	S>C		No	ClinGen TOPMed
CA152372356 rs948371766	99	S>F		No	ClinGen TOPMed
CA366540940 rs1583169710	100	D>A		No	ClinGen Ensembl
rs1230028396 CA366540917	101	C>Y		No	ClinGen gnomAD
rs748807680 CA4113915	102	Q>H		No	ClinGen ExAC gnomAD
rs769564217 CA4113913	105	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1583161285 CA366537865	106	E>D		No	ClinGen Ensembl
CA4113912 rs745715521	106	E>Q		No	ClinGen ExAC gnomAD
CA4113909 rs373846581	110	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM97933 COSM3412520 rs373846581 CA4113910	110	R>Q	upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. central_nervous_system [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs145788459 CA4113911	110	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4113906 rs753926063	114	E>K		No	ClinGen ExAC gnomAD
CA366537763 rs1267576870	115	R>*		No	ClinGen gnomAD
CA366537762 rs369529776	115	R>P		No	ClinGen ESP ExAC gnomAD
CA4113905 rs369529776	115	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs1296244191 CA366537745	116	Q>H		No	ClinGen gnomAD
CA4113904 rs760878449	116	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1327863466 CA366537684	119	I>M		No	ClinGen gnomAD
rs1295909325 CA366537671	120	Y>C		No	ClinGen gnomAD
CA4113902 rs139497517	121	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs139497517 CA366537649	121	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1365308852 CA366537655	121	P>S		No	ClinGen gnomAD
CA366537619 rs1309729713	123	K>E		No	ClinGen gnomAD
CA366537601 rs774744584	123	K>N		No	ClinGen ExAC gnomAD
CA4113899 rs147172089	124	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4113896 rs769371283	126	P>L		No	ClinGen ExAC gnomAD
rs775050808 CA4113897	126	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1431657025 CA366537559	127	Y>F		No	ClinGen gnomAD
rs745515488 CA4113895	128	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1483018594 CA366537537	129	A>T		No	ClinGen gnomAD
CA4113835 rs779632358	131	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA152429950 rs779632358	131	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA4113834 rs145005339	132	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs200025782 CA4113833	132	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA152429942 rs200025782	132	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	133	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs922004498 CA152429922	133	E>D		No	ClinGen TOPMed gnomAD
CA152429938 rs532598712	133	E>Q		No	ClinGen 1000Genomes
rs1562910791 CA366555727	134	G>C		No	ClinGen Ensembl
rs879520352 CA152429904	136	L>F		No	ClinGen gnomAD
rs879520352 CA366555714	136	L>V		No	ClinGen gnomAD
rs760068363 CA4113831	139	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs139491978 CA4113830	139	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs139491978 CA4113829	139	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1583125879 CA366555685	140	G>V		No	ClinGen Ensembl
rs762877822 CA366555684	141	R>G		No	ClinGen ExAC TOPMed gnomAD
CA366555683 rs1288845629	141	R>Q		No	ClinGen TOPMed gnomAD
rs762877822 CA4113825	141	R>W		No	ClinGen ExAC TOPMed gnomAD
CA366555673 rs1180806767	142	D>E		No	ClinGen TOPMed
rs1231242017 CA366555670	143	N>D		No	ClinGen TOPMed
CA4113822 rs771065610	143	N>S		No	ClinGen ExAC gnomAD
rs748582543 CA4113820 CA4113818	144	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA366555664 rs1583125811	144	G>V		No	ClinGen Ensembl
rs748582543 CA4113819	144	G>W		No	ClinGen ExAC TOPMed gnomAD
rs755327206 CA366555654	145	Q>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	147	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366555641 rs1330952058	147	L>F		No	ClinGen gnomAD
rs948668935 CA152429827	147	L>S		No	ClinGen Ensembl
rs1321974791 CA366555634	148	S>N		No	ClinGen gnomAD
CA366555636 rs1321974791	148	S>T		No	ClinGen gnomAD
CA4113814 rs561202230	149	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754432543 CA366555630	149	R>W		No	ClinGen ExAC TOPMed gnomAD
CA4113812 rs749871837	150	K>N		No	ClinGen ExAC
CA366555607 rs1428490122	152	V>G		No	ClinGen gnomAD
TCGA novel	154	T>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366555596 rs1562910698	154	T>I		No	ClinGen Ensembl
rs761464767 CA4113810	156	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA366555583 rs1196931648	157	E>Q		No	ClinGen TOPMed gnomAD
rs751142364 CA4113809	157	E>V		No	ClinGen ExAC gnomAD
rs1269450503 CA366555574	158	G>C		No	ClinGen TOPMed gnomAD
rs1269450503 CA366555575	158	G>R		No	ClinGen TOPMed gnomAD
rs775545837 CA4113807	159	A>G		No	ClinGen ExAC TOPMed gnomAD
CA4113808 rs763903641	159	A>T		No	ClinGen ExAC TOPMed gnomAD
rs775545837 CA4113806	159	A>V		No	ClinGen ExAC TOPMed gnomAD
CA4113805 rs765052479	160	L>V		No	ClinGen ExAC TOPMed gnomAD
CA366555557 CA4113804 rs78775288	161	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1583125639 CA366555552	162	Y>F		No	ClinGen Ensembl
CA4113802 rs772134658	163	F>L		No	ClinGen ExAC gnomAD
TCGA novel	164	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs558466458 CA4113801	164	N>S		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	165	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA152429763 rs993124158	165	R>K		No	ClinGen Ensembl
CA152429759 rs148274328	166	N>H		No	ClinGen ESP TOPMed gnomAD
rs769169125 CA4113799	166	N>K		No	ClinGen ExAC gnomAD
CA4113800 rs774675551	166	N>T		No	ClinGen ExAC gnomAD
CA366555520 rs148274328	166	N>Y		No	ClinGen ESP TOPMed gnomAD
CA366555323 rs1165569913	168	A>G		No	ClinGen gnomAD
CA4113730 rs749155711	169	K>T		No	ClinGen ExAC gnomAD
CA366555294 rs1262880327	172	K>M		No	ClinGen gnomAD
CA4113726 rs76984741	173	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs945204362 CA152428138	174	V>A		No	ClinGen TOPMed
CA4113724 rs149515070	174	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA366555276 rs1359587539	175	M>I		No	ClinGen gnomAD
CA4113721 rs145071792	177	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138852813 CA4113723	177	I>V		No	ClinGen ESP ExAC gnomAD
rs769811232 CA4113719	178	E>K		No	ClinGen ExAC gnomAD
CA366555246 CA366555247 rs1296061652	179	H>Q		No	ClinGen gnomAD
CA366555251 rs1268698570	179	H>Y		No	ClinGen gnomAD
rs61730955 CA4113717	181	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA366555232 rs1304918722	182	A>T		No	ClinGen TOPMed gnomAD
rs1312754147 CA366555230	182	A>V		No	ClinGen gnomAD
CA366555224 rs748976827	183	T>N		No	ClinGen ExAC TOPMed gnomAD
CA366555227 rs1583122812	183	T>P		No	ClinGen Ensembl
CA4113713 rs748976827	183	T>S		No	ClinGen ExAC TOPMed gnomAD
rs775231609 CA4113712	185	Q>L		No	ClinGen ExAC gnomAD
CA4113711 rs769756910	186	P>A		No	ClinGen ExAC gnomAD
rs971594412 CA152428038	186	P>L		No	ClinGen TOPMed gnomAD
CA366555200 rs1200866966	187	A>G		No	ClinGen gnomAD
CA152428030 rs138262967	187	A>T		No	ClinGen ESP TOPMed gnomAD
CA366555182 rs370538517	190	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	190	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4113708 rs370538517	190	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4113705 rs755011413	192	P>S		No	ClinGen ExAC gnomAD
rs756511581 CA366555165	193	H>N		No	ClinGen ExAC TOPMed gnomAD
rs1284945590	193	H>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs756511581 CA4113702	193	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs767970805 CA366555157	194	G>C		No	ClinGen ExAC TOPMed gnomAD
CA4113700 rs767970805	194	G>S		No	ClinGen ExAC TOPMed gnomAD
CA152427958 rs368329171	196	Q>H		No	ClinGen ESP TOPMed
CA4113699 rs762399070	197	V>L		No	ClinGen ExAC gnomAD
CA366555135 rs1393163978	198	T>A		No	ClinGen gnomAD
rs774656853 CA4113698	198	T>N		No	ClinGen ExAC gnomAD
TCGA novel	202	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1177532887 CA366555110	202	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA366555098 rs1362513013	203	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1184570458 CA366555093	204	S>G		No	ClinGen gnomAD
rs1211942322 CA366555091	204	S>N		No	ClinGen TOPMed
COSM1165429 CA4113694 rs370835412	206	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs377425159 CA4113693	206	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA366555068 rs1583122533	208	I>V		No	ClinGen Ensembl
CA4113691 rs770564311	210	I>V		No	ClinGen ExAC gnomAD
rs777524048 CA4113689	212	H>P		No	ClinGen ExAC gnomAD
TCGA novel	213	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366555023 rs1314453188	214	D>H		No	ClinGen TOPMed gnomAD
CA366555022 rs1314453188	214	D>N		No	ClinGen TOPMed gnomAD
CA366555016 rs780321785 CA4113686	215	G>R		No	ClinGen ExAC gnomAD
rs373464798 CA4113685	216	K>R		No	ClinGen ESP ExAC gnomAD
CA366553652 rs1487148737	218	I>M		No	ClinGen gnomAD
rs1190963305 CA366553663	218	I>V		No	ClinGen TOPMed
rs1264589724 CA366553650	219	V>M		No	ClinGen gnomAD
CA366553623 rs1490062704	220	D>E		No	ClinGen TOPMed gnomAD
CA366553632 rs1246544516	220	D>Y		No	ClinGen TOPMed
rs1395176220 CA366553586	223	N>D		No	ClinGen TOPMed
rs1246553321 CA366553582	223	N>I		No	ClinGen gnomAD
CA366553583 rs1246553321	223	N>S		No	ClinGen gnomAD
CA4113572 rs779437269	226	R>*		No	ClinGen ExAC gnomAD
rs548636254 CA152422297	226	R>Q		No	ClinGen 1000Genomes
rs1212540929 CA366553508	228	A>V		No	ClinGen gnomAD
CA366553501 rs1342120398	229	R>C		No	ClinGen gnomAD
CA4113571 rs755612339	229	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1033631045 CA152422293	230	F>Y		No	ClinGen TOPMed gnomAD
rs1363801683 CA366553470	231	H>Y		No	ClinGen gnomAD
CA152422283 rs1002119583	236	A>E		No	ClinGen Ensembl
CA366553390 rs1372669143	236	A>T		No	ClinGen gnomAD
rs1424779712 CA366553333	239	G>A		No	ClinGen gnomAD
rs970822535 CA152422253	240	A>T		No	ClinGen Ensembl
CA366553311 rs1304366976	241	G>D		No	ClinGen TOPMed
VAR_047470 CA4113565 rs10256887	241	G>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs760814253 CA4113562	242	D>G		No	ClinGen ExAC gnomAD
rs145174713 CA4113563	242	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA366553271 rs973273149	243	A>G		No	ClinGen TOPMed gnomAD
rs1319817873 CA366553277	243	A>S		No	ClinGen TOPMed gnomAD
CA366553280 rs1319817873	243	A>T		No	ClinGen TOPMed gnomAD
rs973273149 CA152422228	243	A>V		No	ClinGen TOPMed gnomAD
CA366553261 rs1464685311	244	D>Y		No	ClinGen TOPMed
rs373968831 CA4113517	246	V>L		No	ClinGen ESP ExAC gnomAD
rs765516295 CA4113516	247	P>R		No	ClinGen ExAC gnomAD
CA4113514 rs370584184	250	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA4113512 rs746495966	252	N>K		No	ClinGen ExAC gnomAD
CA366553024 rs1260989843	253	Y>D		No	ClinGen gnomAD
CA366552983 rs1291123681	256	E>A		No	ClinGen gnomAD
rs1285193836 CA366552931	259	M>V		No	ClinGen gnomAD
CA366552879 rs1227210916	261	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA152421476 rs893868928	262	T>M		No	ClinGen TOPMed gnomAD
CA366552838 rs1425214995	264	P>S		No	ClinGen TOPMed
rs780500760 CA366552034	267	T>M		No	ClinGen ExAC TOPMed gnomAD
rs780500760 CA4113456	267	T>R		No	ClinGen ExAC TOPMed gnomAD
CA4113454 rs750990628	268	E>A		No	ClinGen ExAC TOPMed gnomAD
CA152415844 rs565446060	271	R>Q		No	ClinGen 1000Genomes gnomAD
rs761457256 CA4113452	271	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1583111260 CA366551976	272	K>Q		No	ClinGen Ensembl
rs763626261 CA4113450	273	R>C		No	ClinGen ExAC gnomAD
CA4113449 rs762723014	273	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA366551902 rs1243204164	277	M>V		No	ClinGen TOPMed
rs1212492714 CA366551842	280	R>C		No	ClinGen gnomAD
rs776696929 CA4113445	280	R>H		No	ClinGen ExAC gnomAD
rs972013573 CA152415790	283	M>V		No	ClinGen TOPMed
CA366551652 rs1437084999	287	D>V		No	ClinGen TOPMed
rs746111308	290	D>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA366551443 rs1488569419	291	A>T		No	ClinGen TOPMed gnomAD
rs1164915669 CA366551398	293	A>T		No	ClinGen TOPMed
rs1196480859 CA366551391	293	A>V		No	ClinGen TOPMed gnomAD
rs747367972 CA4113396	294	R>*		No	ClinGen ExAC gnomAD
CA366551380 rs1232440867	294	R>Q	Variant assessed as Somatic; 4.665e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1329528728 CA366551289	299	I>T		No	ClinGen gnomAD
rs1449528935 CA366551261	301	S>G		No	ClinGen TOPMed gnomAD
rs1236185732 CA366551222	302	K>N		No	ClinGen gnomAD
rs1348363771 CA366551208	303	E>A		No	ClinGen gnomAD
rs758979296 CA4113393	303	E>D		No	ClinGen ExAC gnomAD
rs1562904269 CA366551175	305	G>C		No	ClinGen Ensembl
CA4113391 rs201399137	306	Y>*		No	ClinGen ExAC gnomAD
rs139606251 CA4113389	307	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs139606251 CA4113388	307	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs139606251 CA4113390	307	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA4113386 rs750211044	308	V>G		No	ClinGen ExAC
rs1238494491 CA366551090	310	H>N		No	ClinGen gnomAD
rs1199819633 CA366551081	310	H>P		No	ClinGen gnomAD
rs1320368261 CA366551078	310	H>Q		No	ClinGen gnomAD
rs1238494491 CA366551088	310	H>Y		No	ClinGen gnomAD
CA366551054 rs1342729000	312	F>L		No	ClinGen gnomAD
TCGA novel	312	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751478347 CA4113383	313	P>L		No	ClinGen ExAC gnomAD
CA152415384 rs1035483153	314	P>L		No	ClinGen TOPMed
rs777054566 CA4113380	316	T>A		No	ClinGen ExAC gnomAD
CA366550987 rs1242580571	317	Q>*		No	ClinGen TOPMed gnomAD
CA366550962 rs1378115888	318	G>D		No	ClinGen gnomAD
CA4113378 rs760914481	322	P>L		No	ClinGen ExAC TOPMed gnomAD
CA4113379 rs771276749	322	P>T		No	ClinGen ExAC gnomAD
rs773725292 CA4113377	323	H>R		No	ClinGen ExAC gnomAD
rs1021091535 CA152415304	325	I>L		No	ClinGen Ensembl
rs531784386 CA4113374	328	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA366550812 rs1364191401	329	T>M		No	ClinGen TOPMed gnomAD
CA366550794 rs1258238111	331	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1200953030 CA366550780	332	R>C		No	ClinGen gnomAD
rs750261057 CA152415245	332	R>H		No	ClinGen gnomAD
rs186866485 CA4113369	333	K>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1219090597 CA366550768	333	K>R		No	ClinGen gnomAD
rs1284002751 CA366550743	335	L>M		No	ClinGen gnomAD
rs1284002751 CA366550742	335	L>V		No	ClinGen gnomAD
TCGA novel	336	F>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366550700 rs139346036	338	C>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA366550709 rs1342609947	338	C>G		No	ClinGen gnomAD
CA4113366 rs751505076	339	E>K		No	ClinGen ExAC TOPMed gnomAD
CA4113367 rs751505076	339	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA4113365 rs764082075	340	T>M		No	ClinGen ExAC TOPMed gnomAD
rs753974204 CA4113363	341	E>A		No	ClinGen ExAC gnomAD
rs1162259618 CA366550651	343	D>N		No	ClinGen gnomAD
CA4113361 rs752950942	344	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs762215095 CA4113358	346	E>K		No	ClinGen ExAC gnomAD
rs774777035 CA4113357	348	V>L		No	ClinGen ExAC gnomAD
rs769198805 CA4113356	349	A>T		No	ClinGen ExAC gnomAD
CA4113355 rs369514942	349	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs745564713 CA4113352	352	Q>R		No	ClinGen ExAC gnomAD
rs77981143 CA4113351	354	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA4113350 rs762560173	354	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	355	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4113346 rs575465873	356	D>E		No	ClinGen 1000Genomes ExAC gnomAD
rs758370620 CA4113347	356	D>N		No	ClinGen ExAC gnomAD
rs1322557766 CA366550462	357	R>S		No	ClinGen TOPMed gnomAD
rs762149014 CA4113341	365	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1323321525 CA366550268	368	A>S		No	ClinGen TOPMed
CA4113293 rs377385277	368	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs760082788 CA4113291	369	H>R		No	ClinGen ExAC TOPMed gnomAD
CA366550258 rs1438002029	369	H>Y		No	ClinGen gnomAD
CA366550214 rs1238846963	372	H>R		No	ClinGen TOPMed

No associated diseases with O75689

5 regional properties for O75689

Type	Name	Position	InterPro Accession
domain	Arf GTPase activating protein	7 - 126	IPR001164
domain	Pleckstrin homology domain	129 - 232	IPR001849-1
domain	Pleckstrin homology domain	252 - 358	IPR001849-2
domain	ADAP, PH domain 1	130 - 238	IPR037849
domain	ADAP, PH domain 2	252 - 357	IPR037851

Functions

		Description
EC Number
Subcellular Localization	Nucleus Cytoplasm	Recruited to the plasma membrane upon epidermal growth factor-dependent activation of phosphatidylinositol 4,5-diphosphate (PtdInsP2) 3-kinase
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

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.
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.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

5 GO annotations of molecular function

Name	Definition
GTPase activator activity	Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.
inositol 1,3,4,5 tetrakisphosphate binding	Binding to inositol 1,3,4,5 tetrakisphosphate.
metal ion binding	Binding to a metal ion.
phosphatidylinositol bisphosphate binding	Binding to phosphatidylinositol bisphosphate.
phosphatidylinositol-3,4,5-trisphosphate binding	Binding to phosphatidylinositol-3,4,5-trisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 3', 4' and 5' positions.

3 GO annotations of biological process

Name	Definition
cell surface receptor signaling pathway	The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription.
positive regulation of GTPase activity	Any process that activates or increases the activity of a GTPase.
regulation of GTPase activity	Any process that modulates the rate of GTP hydrolysis by a GTPase.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MAKERRRAVL	ELLQRPGNAR	CADCGAPDPD	WASYTLGVFI	CLSCSGIHRN	IPQVSKVKSV
70	80	90	100	110	120
RLDAWEEAQV	EFMASHGNDA	ARARFESKVP	SFYYRPTPSD	CQLLREQWIR	AKYERQEFIY
130	140	150	160	170	180
PEKQEPYSAG	YREGFLWKRG	RDNGQFLSRK	FVLTEREGAL	KYFNRNDAKE	PKAVMKIEHL
190	200	210	220	230	240
NATFQPAKIG	HPHGLQVTYL	KDNSTRNIFI	YHEDGKEIVD	WFNALRAARF	HYLQVAFPGA
250	260	270	280	290	300
GDADLVPKLS	RNYLKEGYME	KTGPKQTEGF	RKRWFTMDDR	RLMYFKDPLD	AFARGEVFIG
310	320	330	340	350	360
SKESGYTVLH	GFPPSTQGHH	WPHGITIVTP	DRKFLFACET	ESDQREWVAA	FQKAVDRPML
370
PQEYAVEAHF	KHKP