AiPD: Autoinhibited Protein Database

Q9NP61

Gene name	ARFGAP3 (ARFGAP1)
Protein name	ADP-ribosylation factor GTPase-activating protein 3
Names	ARF GAP 3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:26286
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

236-310 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

236-310 (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

2 structures for Q9NP61

Entry ID	Method	Resolution	Chain	Position	Source
2CRW	NMR	-	A	1-136	PDB
AF-Q9NP61-F1	Predicted				AlphaFoldDB

431 variants for Q9NP61

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1343877702 CA411808271	2	G>E		No	ClinGen gnomAD
rs1569182037 CA411808236	7	Q>*		No	ClinGen Ensembl
rs1194080131 CA411808234	7	Q>R		No	ClinGen TOPMed
rs750368458 CA10271039	9	I>M		No	ClinGen ExAC gnomAD
COSM1616524 rs1268156295 CA411808204	11	T>I	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
CA411808185 rs1473974794	14	K>R		No	ClinGen TOPMed gnomAD
CA411808180 rs1419390626	15	R>C		No	ClinGen gnomAD
rs1181868566 CA411808177	15	R>H		No	ClinGen TOPMed gnomAD
rs1325854025 CA411808166	17	R>C		No	ClinGen TOPMed gnomAD
rs1240236252 CA411808157	18	S>L		No	ClinGen gnomAD
CA10271037 rs761284105	19	V>M		No	ClinGen ExAC gnomAD
rs1047612221 CA324769005	21	T>A		No	ClinGen TOPMed
rs1159474910 CA411808135	22	N>I		No	ClinGen gnomAD
rs1272840658 CA411808131	23	K>E		No	ClinGen gnomAD
CA411808128 rs1602142015	23	K>R		No	ClinGen Ensembl
rs765223447 CA411807232	25	C>F		No	ClinGen ExAC gnomAD
CA10271020 rs765223447	25	C>Y		No	ClinGen ExAC gnomAD
rs1352246808 CA411807221	27	D>H		No	ClinGen gnomAD
rs756756853 CA10271019	29	G>D		No	ClinGen ExAC gnomAD
CA10271018 rs374278949	31	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA411807166 rs1486626571	34	S>R		No	ClinGen TOPMed
rs1602132959 CA411807169	34	S>T		No	ClinGen Ensembl
CA324754060 rs899641878	35	W>*		No	ClinGen TOPMed gnomAD
CA10271017 rs542653008	38	I>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA324754053 rs757314118	38	I>R		No	ClinGen gnomAD
rs757314118 CA411807111	38	I>T		No	ClinGen gnomAD
CA411807081 rs1176810336	40	Y>C		No	ClinGen gnomAD
rs1234680494 CA411807060	41	G>E		No	ClinGen gnomAD
rs760205391 CA10271016	42	V>M		No	ClinGen ExAC TOPMed gnomAD
CA10271015 rs775285235	43	F>I		No	ClinGen ExAC gnomAD
rs763477713 CA10271013	43	F>L		No	ClinGen ExAC gnomAD
rs766838600 CA10271014	43	F>S		No	ClinGen ExAC TOPMed gnomAD
rs773825354 CA10271012	45	C>W		No	ClinGen ExAC gnomAD
rs141462679 CA10271011	46	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA411806976 rs1433644181	46	I>T		No	ClinGen TOPMed
CA10271010 rs748713806	48	C>G		No	ClinGen ExAC gnomAD
CA411806933 rs1309328452	49	S>P		No	ClinGen gnomAD
CA411806885 rs1374805310	52	H>R		No	ClinGen gnomAD
CA10271008 rs768789771	53	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA411806880 rs1467433149	53	R>W		No	ClinGen TOPMed gnomAD
CA10271006 rs780309076	55	L>V		No	ClinGen ExAC TOPMed gnomAD
rs745699795 CA10271004	63	R>*		No	ClinGen ExAC gnomAD
rs757091169 CA10271003	63	R>P		No	ClinGen ExAC TOPMed gnomAD
rs757091169 CA10271002	63	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10270985 rs146115643	66	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1380363458 CA411805973	67	L>F		No	ClinGen TOPMed gnomAD
CA10270984 rs746109886	69	S>A		No	ClinGen ExAC gnomAD
rs994782170 CA324749221	69	S>Y		No	ClinGen TOPMed gnomAD
rs370470097 CA10270983	70	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1231930843 CA411805939	72	S>*		No	ClinGen TOPMed
CA411805909 rs1305008191	76	L>W		No	ClinGen TOPMed
CA10270982 rs749122444	77	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs777834822 COSM3729780 CA10270980	77	R>Q	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs377386819 CA324749212	78	C>R		No	ClinGen ESP TOPMed
CA10270979 rs755655994	79	M>T		No	ClinGen ExAC gnomAD
rs1458437793 CA411805895	79	M>V		No	ClinGen gnomAD
rs568608523 CA10270977	82	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1602125357 CA411805867	83	G>*		No	ClinGen Ensembl
rs1602125351 CA411805866	83	G>V		No	ClinGen Ensembl
CA10270975 rs751232779	85	A>T		No	ClinGen ExAC TOPMed gnomAD
rs752637786 CA10270973	86	S>G		No	ClinGen ExAC gnomAD
CA411805441 rs1411698513	93	Q>E		No	ClinGen TOPMed gnomAD
CA324747179 rs886453791	93	Q>L		No	ClinGen Ensembl
rs1312786110 CA411805431	94	H>L		No	ClinGen TOPMed gnomAD
rs1312786110 CA411805432	94	H>R		No	ClinGen TOPMed gnomAD
CA10270950 rs767527010	94	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA411805425 rs1433318028	95	G>E		No	ClinGen gnomAD
CA10270949 rs759718766	96	C>W		No	ClinGen ExAC gnomAD
rs1602119579 CA411805417	96	C>Y		No	ClinGen Ensembl
TCGA novel	97	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10270948 rs565262862	98	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs142981529 CA10270947	99	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775090558 CA324747161	101	T>S		No	ClinGen Ensembl
rs773022233 CA10270945	102	N>D		No	ClinGen ExAC gnomAD
CA411805380 rs1252510600	102	N>I		No	ClinGen gnomAD
CA411805366 rs1445491031	104	K>N		No	ClinGen TOPMed
CA10270944 rs769718299	104	K>Q		No	ClinGen ExAC gnomAD
rs1440549666 CA411805360	105	Y>S		No	ClinGen TOPMed gnomAD
COSM1034825 rs376025653 CA10270943	108	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA10270941 rs768282191	108	R>H		No	ClinGen ExAC TOPMed gnomAD
CA10270942 rs376025653	108	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10270939 rs779547371	109	A>G		No	ClinGen ExAC
rs746565455 CA10270940	109	A>T		No	ClinGen ExAC TOPMed gnomAD
CA411805314 rs1277976232	112	L>R		No	ClinGen TOPMed gnomAD
rs752927577 CA10270938	113	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs752927577 CA411805309	113	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA411805303 rs1212617488	114	R>K		No	ClinGen TOPMed
rs767504049 CA10270937	114	R>S		No	ClinGen ExAC TOPMed gnomAD
rs756482945 COSM1416652 CA10270935	119	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1400449336 CA411805262	120	L>F		No	ClinGen gnomAD
CA10270933 rs199746732	121	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1412548054 CA411805247	123	Q>E		No	ClinGen TOPMed
rs138460344 CA10270931	123	Q>L		No	ClinGen ESP ExAC TOPMed
rs759541782 CA10270928	126	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10270929 rs199879210	126	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA324747102 rs865793710	128	H>N		No	ClinGen Ensembl
rs1361430148 CA411805214	128	H>R		No	ClinGen TOPMed gnomAD
rs1332704893 CA411805198	131	D>H		No	ClinGen gnomAD
rs1388195028 CA411804619	133	W>*		No	ClinGen gnomAD
CA10270900 rs143825577	133	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA411804617 rs1275420574	134	L>I		No	ClinGen gnomAD
CA411804597 rs1449815365	135	D>V		No	ClinGen gnomAD
rs773961779 CA10270899	135	D>Y		No	ClinGen ExAC gnomAD
rs770521201 CA10270898	136	S>G		No	ClinGen ExAC TOPMed gnomAD
CA10270897 rs561244419	136	S>T		No	ClinGen 1000Genomes ExAC gnomAD
CA411804559 rs1602118462	138	V>L		No	ClinGen Ensembl
CA10270896 rs781467697	139	V>F		No	ClinGen ExAC TOPMed gnomAD
CA10270895 rs768913141	141	P>S		No	ClinGen ExAC gnomAD
rs780490023 CA10270893	143	S>F		No	ClinGen ExAC gnomAD
CA411804492 rs1300247948	144	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA324746704 rs149445272	144	P>S		No	ClinGen ESP
rs1369219388 CA411804451	150	D>G		No	ClinGen gnomAD
CA10270891 rs750575404	153	A>P		No	ClinGen ExAC TOPMed gnomAD
CA411804431 rs750575404	153	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1368676781 CA411804421	154	S>F		No	ClinGen gnomAD
CA10270888 rs563676032	156	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA324746694 rs1033601675	159	E>A		No	ClinGen Ensembl
CA324745419 rs930665095	160	V>L		No	ClinGen TOPMed gnomAD
rs772573132 CA10270851	162	D>E		No	ClinGen ExAC TOPMed gnomAD
CA10270850 rs746321689	163	T>A		No	ClinGen ExAC TOPMed gnomAD
CA411803651 rs775057840	164	A>P		No	ClinGen ExAC gnomAD
rs775057840 CA10270849	164	A>S		No	ClinGen ExAC gnomAD
rs771131743 CA10270848	164	A>V		No	ClinGen ExAC gnomAD
CA10270846 rs546051035	166	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA411803557 rs1244781534	168	A>E		No	ClinGen TOPMed
TCGA novel	171	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10270845 rs756249551	172	P>L		No	ClinGen ExAC gnomAD
CA324745403 rs920474954	172	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs147803293 CA10270844	173	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA10270843 rs754824003	174	S>F		No	ClinGen ExAC gnomAD
rs754824003 CA10270842	174	S>Y		No	ClinGen ExAC gnomAD
CA324745381 rs970080115	175	L>*		No	ClinGen gnomAD
rs749849231 CA10270838	178	R>S		No	ClinGen ExAC gnomAD
rs764837903 CA10270837	179	P>S		No	ClinGen ExAC gnomAD
TCGA novel	181	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1432585559 CA411803248	182	T>A		No	ClinGen gnomAD
rs1367676179 CA411803221	182	T>S		No	ClinGen gnomAD
rs368167965 CA10270835	183	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1424089215 CA411803208	183	T>I		No	ClinGen TOPMed
rs767983813 CA10270834	184	L>S		No	ClinGen ExAC TOPMed gnomAD
CA411803177 rs1388659408	185	E>A		No	ClinGen gnomAD
CA411803174 rs1388659408	185	E>G		No	ClinGen gnomAD
CA10270833 rs142176423	187	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs998982741 CA324745348	188	E>K		No	ClinGen TOPMed
CA10270832 rs774969757	189	G>S		No	ClinGen ExAC gnomAD
CA10270805 rs550214798	191	Q>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA324743251 rs550214798	191	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs550214798 CA411802513	191	Q>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10270803 rs779761090	194	G>A		No	ClinGen ExAC gnomAD
CA10270801 rs745782111	196	S>N		No	ClinGen ExAC
CA411802417 rs1359320038	198	E>K		No	ClinGen TOPMed
CA10270800 rs778978748	199	G>S		No	ClinGen ExAC TOPMed gnomAD
CA10270798 rs753449272	202	V>E		No	ClinGen ExAC gnomAD
CA411802349 rs1173959970	202	V>L		No	ClinGen gnomAD
CA10270797 rs777447367	204	T>I		No	ClinGen ExAC gnomAD
CA411802309 rs777447367	204	T>K		No	ClinGen ExAC gnomAD
rs755788954 CA10270796	206	A>T		No	ClinGen ExAC gnomAD
rs766836791 CA10270794	208	L>S		No	ClinGen ExAC TOPMed gnomAD
CA411802224 rs1186622304	209	E>K		No	ClinGen gnomAD
CA411801712 rs1246392142	210	V>I		No	ClinGen TOPMed gnomAD
rs1447645975 CA411801696	211	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	211	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA324741941 rs919575760	213	I>V		No	ClinGen gnomAD
rs750748125 CA10270771	216	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1328173134	216	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10270770 rs765547979	219	N>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	220	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411801594 rs1364052702	221	A>T		No	ClinGen gnomAD
rs1436718702	224	G>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA10270768 rs754359856	224	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1343107342 CA411801572	224	G>S		No	ClinGen TOPMed
rs73886145 CA10270747	226	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA324741436 rs988392558	227	A>S		No	ClinGen TOPMed gnomAD
CA324741435 rs988392558	227	A>T		No	ClinGen TOPMed gnomAD
rs1205603368 CA411801540	227	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10270745 rs752775916	229	K>R		No	ClinGen ExAC gnomAD
rs754931118	230	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs767524803 CA10270742	230	G>E		No	ClinGen ExAC TOPMed gnomAD
VAR_055523 CA10270741 rs9607957	231	S>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA411801495 rs9607957	231	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs377087366 CA10270740	232	L>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1602106793 CA411801461	233	G>E		No	ClinGen Ensembl
rs766272573 CA324741425	234	A>S		No	ClinGen ExAC gnomAD
CA10270739 rs766272573	234	A>T		No	ClinGen ExAC gnomAD
CA10270738 rs762879193	234	A>V		No	ClinGen ExAC gnomAD
CA411801440 rs1348506643	235	Q>*		No	ClinGen gnomAD
TCGA novel	235	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411801416 rs1299700972	236	K>N		No	ClinGen gnomAD
CA10270737 rs773260042	238	A>G		No	ClinGen ExAC gnomAD
rs754997063 CA324741420	238	A>S		No	ClinGen Ensembl
CA324741416 rs372295304	240	T>P		No	ClinGen ESP
rs748124631 CA10270735	241	C>G		No	ClinGen ExAC TOPMed gnomAD
rs748124631 CA10270736	241	C>R		No	ClinGen ExAC TOPMed gnomAD
CA10270734 rs776136367	245	I>T		No	ClinGen ExAC TOPMed gnomAD
CA411801262 rs1416309485	248	Q>H		No	ClinGen gnomAD
TCGA novel	248	Q>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10270733 rs375925711	249	A>V		No	ClinGen ESP ExAC gnomAD
rs746663640 CA10270732 COSM1034821	252	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs371485035 CA10270730	256	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1250271782 CA411801158	256	K>R		No	ClinGen gnomAD
CA411801123 rs1483122182	259	E>K		No	ClinGen gnomAD
rs149778961 CA10270729	262	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	264	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA324741397 rs1009178498	265	V>L		No	ClinGen TOPMed
rs940175873 CA324741395	267	K>E		No	ClinGen TOPMed
rs140062980 CA324741393	269	E>*		No	ClinGen ESP TOPMed gnomAD
CA10270726 rs200650865	271	I>T		No	ClinGen ExAC TOPMed gnomAD
rs756575075 CA10270727	271	I>V		No	ClinGen ExAC TOPMed gnomAD
rs771667633 CA10270710	272	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1262487957 CA411799850	272	V>I		No	ClinGen gnomAD
rs745552661 CA10270709	274	S>P		No	ClinGen ExAC gnomAD
rs778047600 CA10270708	276	R>*		No	ClinGen ExAC gnomAD
rs144361548 CA10270707	276	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA324740360 rs144361548	276	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1320128288 CA411799809	279	Y>C		No	ClinGen TOPMed gnomAD
CA10270706 rs748683056	279	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs1433076608 CA411799795	281	D>Y		No	ClinGen gnomAD
TCGA novel	282	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10270705 rs781588701	283	E>G		No	ClinGen ExAC gnomAD
CA10270703 rs537612856	285	Q>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs780309591 CA10270702	286	M>T		No	ClinGen ExAC gnomAD
rs750685499 CA411799707	288	K>N		No	ClinGen ExAC TOPMed gnomAD
CA10270701 rs758622602	288	K>R		No	ClinGen ExAC gnomAD
rs1431879434 CA411799704	289	D>N		No	ClinGen Ensembl
TCGA novel	289	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
VAR_036177	290	E>G	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
rs139702766 CA10270699	290	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs865906392 CA324740345	292	M>V		No	ClinGen Ensembl
rs1041909124 CA324740344	293	N>T		No	ClinGen TOPMed gnomAD
CA324740342 rs570331646	294	I>V		No	ClinGen 1000Genomes
rs1229470164 CA411799533	296	G>D		No	ClinGen TOPMed
CA10270698 rs761582830	296	G>S		No	ClinGen ExAC gnomAD
TCGA novel	298	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763991121 CA10270696	299	N>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	299	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1569146078 CA411799465	299	N>K		No	ClinGen Ensembl
rs774441374	299	N>M	Variant assessed as Somatic; 4.749e-05 impact. [NCI-TCGA]	No	NCI-TCGA
CA10270695 rs552164906	299	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA411799461 rs1207751939	300	V>F		No	ClinGen TOPMed
rs564205489 CA324740329	303	D>G		No	ClinGen TOPMed gnomAD
rs771575727 CA10270692	305	L>F		No	ClinGen ExAC gnomAD
rs1482022943 CA411799335	306	G>D		No	ClinGen gnomAD
rs781602195 CA324740323	306	G>S		No	ClinGen TOPMed gnomAD
rs1328375023 CA411799313	307	M>I		No	ClinGen gnomAD
rs895080982 CA324740319	307	M>K		No	ClinGen TOPMed gnomAD
CA411799325 rs1226482878	307	M>V		No	ClinGen gnomAD
rs141571533 CA10270689	313	R>G		No	ClinGen ESP ExAC gnomAD
CA10270669 rs75405504	316	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10270668 rs769074063	316	I>M		No	ClinGen ExAC gnomAD
rs1276304377 CA411799020	316	I>T		No	ClinGen TOPMed
rs147432132 CA10270667	317	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA324740220 rs376679510	318	H>R		No	ClinGen TOPMed
CA10270665 rs772250057 CA10270666	320	V>L		No	ClinGen ExAC TOPMed gnomAD
CA324740213 rs931039997	323	D>G		No	ClinGen TOPMed
CA324740215 rs1046779537	323	D>N		No	ClinGen TOPMed gnomAD
TCGA novel CA411798840 rs1265101470	324	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed gnomAD NCI-TCGA
CA411798818 rs1224155973	325	Q>P		No	ClinGen gnomAD
rs377010312 CA10270663	327	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA411798759 rs1569145372	327	I>R		No	ClinGen Ensembl
rs1312387774 CA411798708	330	E>*		No	ClinGen gnomAD
rs1333858926 CA639520642	331	S>*		No	ClinGen gnomAD
rs141235894 CA10270658	332	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs141235894 CA10270657	332	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs372472921 CA10270659	332	P>S		No	ClinGen ESP ExAC TOPMed
rs199675575 CA10270656	333	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199675575 CA324740199	333	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1338184120 CA411798614	334	M>T		No	ClinGen gnomAD
rs754929461 CA10270655	338	R>G		No	ClinGen ExAC gnomAD
TCGA novel	338	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10270653 rs765918298	339	K>T		No	ClinGen ExAC gnomAD
rs762451487 CA10270652	340	K>R		No	ClinGen ExAC gnomAD
CA10270651 rs772971378	341	Y>C		No	ClinGen ExAC gnomAD
rs144427016 CA10270650	342	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1460174203 CA411798410	343	D>N		No	ClinGen gnomAD
TCGA novel	344	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761158243 CA10270649	345	S>G		No	ClinGen ExAC gnomAD
CA10270648 rs776121260	346	D>G		No	ClinGen ExAC TOPMed gnomAD
rs191045561 CA10270647	347	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10270644 rs771057600	352	S>A		No	ClinGen ExAC gnomAD
rs369271172 CA324740176	353	S>I		No	ClinGen ESP TOPMed
rs1463654196 CA411797216	354	S>P		No	ClinGen TOPMed
CA411800625 CA10270628 VAR_013447 rs1018448	355	S>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA10270642 rs138700312	355	S>T		No	ClinGen ESP ExAC gnomAD
CA10270627 rs770913856	357	F>L		No	ClinGen ExAC
TCGA novel	357	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs78242300 CA10270624	358	D>E		No	ClinGen ExAC TOPMed gnomAD
rs763135033 CA10270626	358	D>G		No	ClinGen ExAC
CA324787692 rs908449549	359	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA324787691 rs983218639	361	V>L		No	ClinGen Ensembl
CA10270623 rs369512808	363	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs746912031 CA10270620 CA411800499	365	S>R		No	ClinGen ExAC TOPMed gnomAD
CA10270618 rs780077788	367	S>C		No	ClinGen ExAC TOPMed gnomAD
VAR_055524 rs16986123 CA324787671	370	S>G		No	ClinGen UniProt Ensembl dbSNP
CA10270616 rs757822120	371	W>*		No	ClinGen ExAC TOPMed gnomAD
CA411800420 rs1392071910	372	D>N		No	ClinGen TOPMed
rs1028288129 CA324787655	373	D>Y		No	ClinGen TOPMed gnomAD
rs952726458 CA324787634	374	S>I		No	ClinGen Ensembl
CA411800376 rs1490966208	375	S>P		No	ClinGen gnomAD
rs879209324 CA324787633	377	S>F		No	ClinGen Ensembl
rs61730560 CA10270612	378	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs61730560 CA324787617	378	Y>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10270613 rs567974527	378	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1215872279 CA411800295	381	K>T		No	ClinGen gnomAD
TCGA novel	382	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10270611 rs767980110	384	S>G		No	ClinGen ExAC TOPMed gnomAD
CA411800244 rs1273970956	385	K>E		No	ClinGen TOPMed
rs1403051653 CA411800234	386	D>N		No	ClinGen gnomAD
rs1408971558 CA411800207	389	T>I		No	ClinGen gnomAD
CA411800211 rs1303581051	389	T>S		No	ClinGen gnomAD
CA10270608 rs766960096	390	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1424561779 CA411800181	394	T>A		No	ClinGen gnomAD
CA411800165 rs1569140325	396	Y>F		No	ClinGen Ensembl
rs1231135696 CA411800146	399	R>K		No	ClinGen TOPMed
rs766656677 CA10270589	399	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1204592531 CA411800110	403	R>C		No	ClinGen TOPMed
rs138028492 CA10270588	403	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138028492 CA10270587	403	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138028492 CA10270586	403	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150358440 CA10270584	404	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150358440 CA10270583	404	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10270582 rs140377812	404	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411800108 rs140377812	404	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10270585 rs150358440	404	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411800107 rs1201290267	405	K>Q		No	ClinGen gnomAD
rs770027888 CA324786426	406	P>L		No	ClinGen Ensembl
rs1268966387 CA411800099	406	P>T		No	ClinGen gnomAD
rs760631260 CA324786422	407	D>N		No	ClinGen Ensembl
CA10270581 rs775292157	408	Y>*		No	ClinGen ExAC gnomAD
rs905529143 CA324786418	408	Y>D		No	ClinGen TOPMed gnomAD
rs376794836 CA324786386	411	V>A		No	ClinGen TOPMed gnomAD
rs1308924550 CA411800050	413	N>S		No	ClinGen gnomAD
rs748858151 CA10270576	415	D>N		No	ClinGen ExAC TOPMed
rs1313175622 CA411800025	417	A>T		No	ClinGen TOPMed gnomAD
CA324786375 rs748331718	418	Q>R		No	ClinGen Ensembl
rs146332652 CA10270574	420	K>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10270572 rs747767949	421	F>L		No	ClinGen ExAC TOPMed gnomAD
CA411799993 rs1569138496	421	F>S		No	ClinGen Ensembl
rs780453701 CA10270571	422	G>V		No	ClinGen ExAC TOPMed gnomAD
rs758752279 CA10270570	423	N>K		No	ClinGen ExAC gnomAD
CA411799981 rs1277244176	423	N>S		No	ClinGen TOPMed
CA10270567 rs757780559	425	K>E		No	ClinGen ExAC TOPMed gnomAD
CA10270568 rs757780559	425	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA411799965 rs1181372057	426	A>D		No	ClinGen gnomAD
CA324786325 rs781254265	426	A>S		No	ClinGen ExAC gnomAD
CA10270566 rs781254265	426	A>T		No	ClinGen ExAC gnomAD
CA411799956 rs1446017804	427	I>M		No	ClinGen gnomAD
rs1243238373 CA411799944	429	S>L		No	ClinGen gnomAD
CA324786291 rs200175418	431	M>I		No	ClinGen 1000Genomes
rs73176813 CA411799933	431	M>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs73176813 CA10270563	431	M>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs73176813 CA10270562	431	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs560137754 CA10270564	431	M>V		No	ClinGen ExAC gnomAD
rs1358461809 CA411799912	434	G>*		No	ClinGen gnomAD
CA411799911 rs1289243297	434	G>E		No	ClinGen gnomAD
CA411799143 rs1296312736	442	E>K		No	ClinGen gnomAD
CA324785200 rs532124385	445	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1344125621 CA411799084	445	A>S		No	ClinGen TOPMed gnomAD
rs1344125621 CA411799088	445	A>T		No	ClinGen TOPMed gnomAD
rs532124385 CA10270547	445	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10270546 rs141230224	446	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs202174033 CA10270545	446	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1602093798 CA411799043	448	E>K		No	ClinGen Ensembl
CA411798992 rs1166961919	449	R>S		No	ClinGen gnomAD
rs79987907 CA324785173	451	S>A		No	ClinGen Ensembl
CA10270544 rs759861624	451	S>L		No	ClinGen ExAC TOPMed gnomAD
rs766288882 CA10270542	452	A>E		No	ClinGen ExAC gnomAD
rs762969196 CA10270541	453	S>G		No	ClinGen ExAC TOPMed gnomAD
CA411798900 rs1174921257	453	S>N		No	ClinGen TOPMed
rs1036301287 CA324785130	454	S>A		No	ClinGen Ensembl
rs769312864 CA10270539	455	S>F		No	ClinGen ExAC gnomAD
rs761274232 CA10270538	456	I>M		No	ClinGen ExAC gnomAD
rs568147254 CA324785101	456	I>V		No	ClinGen Ensembl
rs200635303 CA324785088	457	S>N		No	ClinGen TOPMed gnomAD
CA10270537 rs776224296	458	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1222953658 CA411798802	460	D>H		No	ClinGen gnomAD
CA411798771 COSM1535382 rs1322101463	462	F>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA411798731 rs1335552620	463	E>D		No	ClinGen gnomAD
rs1224583354 CA411798753	463	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10270535 rs746672024	465	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1344983670 CA411798675	466	R>K		No	ClinGen TOPMed
rs1602093680 CA411798667	467	K>E		No	ClinGen Ensembl
VAR_055525 CA10270533 rs35498349	468	Q>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA10270532 rs542949897	469	P>L		No	ClinGen 1000Genomes ExAC
CA324778397 rs199973508	472	N>D		No	ClinGen 1000Genomes gnomAD
rs1602085500 CA411797064	473	Y>S		No	ClinGen Ensembl
CA10270507 rs755171884	474	S>G		No	ClinGen ExAC gnomAD
rs148544839 CA10270506	474	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs758716350 CA10270504	478	V>A		No	ClinGen ExAC TOPMed gnomAD
rs983471578 CA324778375	478	V>L		No	ClinGen gnomAD
rs983471578 CA411797008	478	V>M		No	ClinGen gnomAD
CA10270500 rs757086926	480	P>L		No	ClinGen ExAC gnomAD
CA10270501 rs765083530	480	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA10270499 rs529436807	481	N>H		No	ClinGen 1000Genomes ExAC gnomAD
rs763590938 CA10270498	481	N>S		No	ClinGen ExAC gnomAD
VAR_055526 CA10270495 rs36003980	482	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs920282829 CA324778228	483	P>H		No	ClinGen gnomAD
rs920282829 CA411796938	483	P>L		No	ClinGen gnomAD
CA10270492 rs368934398	484	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs374519982 CA10270491	485	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs748596047 CA10270490	486	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs777314412 CA10270489	487	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1475123090 CA411796890	487	Q>R		No	ClinGen gnomAD
rs79850497 CA10270487	488	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10270486 rs370464836	490	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA10270485 rs11551619 VAR_055527	490	Q>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA10270484 rs746113604	491	G>R		No	ClinGen ExAC TOPMed gnomAD
CA324778159 rs778369048	492	V>A		No	ClinGen Ensembl
rs1423703473 CA411796806	493	R>K		No	ClinGen TOPMed
rs1009922614 CA324778113	495	V>L		No	ClinGen Ensembl
rs757143730 CA10270482	496	A>D		No	ClinGen ExAC gnomAD
rs774170743 CA324778101	496	A>S		No	ClinGen Ensembl
CA10270481 rs753688623	498	K>T		No	ClinGen ExAC gnomAD
CA411796694 rs1267843210	499	L>F		No	ClinGen gnomAD
rs777737751 CA10270480	500	S>P		No	ClinGen ExAC TOPMed gnomAD
CA10270478 rs752165729	501	V>I		No	ClinGen ExAC TOPMed gnomAD
rs374696317 CA10270475	504	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA10270474 CA411796582 rs765484662	505	G>R		No	ClinGen ExAC gnomAD
rs1274116082 CA411796554	506	V>A		No	ClinGen TOPMed
rs370657982 CA10270472	507	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	509	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769244778 CA10270471	510	I>L		No	ClinGen ExAC gnomAD
rs1039255408 CA324778025	511	Q>E		No	ClinGen TOPMed
CA411796484 CA10270470 rs147909015	511	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411796196 rs1201715045	513	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs774318170 CA10270448	513	R>H		No	ClinGen ExAC TOPMed gnomAD
rs774318170 CA324776404	513	R>P		No	ClinGen ExAC TOPMed gnomAD
CA411796189 rs1371521741	514	Y>C		No	ClinGen gnomAD
rs969548226 CA324776392	514	Y>H		No	ClinGen TOPMed gnomAD
CA10270445 rs777488838	515	G>S		No	ClinGen ExAC TOPMed gnomAD
rs377540024 CA10270443	516	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1307357989 CA411796175	517	S>K		No	ClinGen TOPMed

No associated diseases with Q9NP61

1 regional properties for Q9NP61

Type	Name	Position	InterPro Accession
domain	Arf GTPase activating protein	10 - 126	IPR001164

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Golgi apparatus membrane ; Peripheral membrane protein ; Cytoplasmic side	Also found on peripheral punctate structures likely to be endoplasmic reticulum-Golgi intermediate compartment
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 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.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

2 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.
metal ion binding	Binding to a metal ion.

4 GO annotations of biological process

Name	Definition
COPI coating of Golgi vesicle	The addition of COPI proteins and adaptor proteins to Golgi membranes during the formation of transport vesicles, forming a vesicle coat.
intracellular protein transport	The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell.
protein secretion	The controlled release of proteins from a cell.
vesicle-mediated transport	A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O82171	AGD10	ADP-ribosylation factor GTPase-activating protein AGD10	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MGDPSKQDIL	TIFKRLRSVP	TNKVCFDCGA	KNPSWASITY	GVFLCIDCSG	SHRSLGVHLS
70	80	90	100	110	120
FIRSTELDSN	WSWFQLRCMQ	VGGNASASSF	FHQHGCSTND	TNAKYNSRAA	QLYREKIKSL
130	140	150	160	170	180
ASQATRKHGT	DLWLDSCVVP	PLSPPPKEED	FFASHVSPEV	SDTAWASAIA	EPSSLTSRPV
190	200	210	220	230	240
ETTLENNEGG	QEQGPSVEGL	NVPTKATLEV	SSIIKKKPNQ	AKKGLGAKKG	SLGAQKLANT
250	260	270	280	290	300
CFNEIEKQAQ	AADKMKEQED	LAKVVSKEES	IVSSLRLAYK	DLEIQMKKDE	KMNISGKKNV
310	320	330	340	350	360
DSDRLGMGFG	NCRSVISHSV	TSDMQTIEQE	SPIMAKPRKK	YNDDSDDSYF	TSSSSYFDEP
370	380	390	400	410	420
VELRSSSFSS	WDDSSDSYWK	KETSKDTETV	LKTTGYSDRP	TARRKPDYEP	VENTDEAQKK
430	440	450	460	470	480
FGNVKAISSD	MYFGRQSQAD	YETRARLERL	SASSSISSAD	LFEEPRKQPA	GNYSLSSVLP
490	500	510
NAPDMAQFKQ	GVRSVAGKLS	VFANGVVTSI	QDRYGS