AiPD: Autoinhibited Protein Database

Q59EK9

Gene name	RUNDC3A (RAP2IP, RPIP8)
Protein name	RUN domain-containing protein 3A
Names	Rap2-interacting protein 8, RPIP-8
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10900
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-53 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-53 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q59EK9

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q59EK9-F1	Predicted				AlphaFoldDB

292 variants for Q59EK9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA399765620 rs1340804662	3	A>P		No	ClinGen gnomAD
CA399765640 rs1217644133	3	A>V		No	ClinGen gnomAD
CA399765653 rs1598319964	4	S>G		No	ClinGen Ensembl
CA8600805 rs770968570	4	S>N		No	ClinGen ExAC TOPMed gnomAD
rs776961327 CA8600806	4	S>R		No	ClinGen ExAC gnomAD
CA399765708 rs1482966526	6	V>L		No	ClinGen gnomAD
rs1010495720 CA399765764	8	T>N		No	ClinGen TOPMed gnomAD
CA290926948 rs1010495720	8	T>S		No	ClinGen TOPMed gnomAD
rs1285107311 CA399765783	9	T>S		No	ClinGen TOPMed
rs1193257704 CA399765841	11	A>S		No	ClinGen gnomAD
CA399765955 rs1405541496	16	S>C		No	ClinGen TOPMed
rs1405541496 CA399765952	16	S>Y		No	ClinGen TOPMed
rs762826390 CA8600810	17	K>R		No	ClinGen ExAC TOPMed gnomAD
rs762826390 CA399765973	17	K>T		No	ClinGen ExAC TOPMed gnomAD
CA399766019 rs1358570819	19	A>G		No	ClinGen gnomAD
CA399766022 rs1358570819	19	A>V		No	ClinGen gnomAD
CA8600811 rs370330209	20	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs751508008 CA8600812	22	R>H		No	ClinGen ExAC gnomAD
CA399766104 rs1398960297	23	N>T		No	ClinGen gnomAD
CA8600814 rs377585188	24	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs374719414 CA8600813	24	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8600815 rs370748654	25	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA399766188 rs1302572765	27	E>Q		No	ClinGen gnomAD
CA290926990 rs368382884	28	R>C		No	ClinGen ESP TOPMed gnomAD
CA399766806 rs1374304543	37	F>L		No	ClinGen TOPMed
CA399766796 rs1378367809	37	F>L		No	ClinGen gnomAD
rs989827585 CA290929511	39	V>M		No	ClinGen TOPMed
rs1480099674 CA399766856	41	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA399766935 rs1272834792	47	T>I		No	ClinGen gnomAD
rs374790810 CA8600839	48	A>T		No	ClinGen ESP ExAC gnomAD
rs367599802 CA8600840	48	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1179614392 CA399766950	49	E>K		No	ClinGen gnomAD
rs935841094 CA290929547	50	P>T		No	ClinGen Ensembl
CA399766992 rs1180889583	52	D>N		No	ClinGen gnomAD
CA399767001 rs1379260577	52	D>V		No	ClinGen gnomAD
CA8600846 rs768598870	55	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA290929549 rs866660091	56	E>*		No	ClinGen gnomAD
TCGA novel	56	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399767046 rs866660091	56	E>K		No	ClinGen gnomAD
TCGA novel	58	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1292894292 CA399767202	67	Q>K		No	ClinGen gnomAD
CA399767231 rs1478814805	69	L>F		No	ClinGen TOPMed
rs371736071 CA8600848	72	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs375984707 CA8600849	72	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA8600850 rs773200088	74	K>R		No	ClinGen ExAC TOPMed gnomAD
CA399767887 rs1191414973	75	A>V		No	ClinGen gnomAD
rs373613588 CA8600865	80	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs866738146 CA290929851	80	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA8600864 rs373613588	80	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA399767963 rs1478620364	81	P>L		No	ClinGen gnomAD
rs1393325834 CA399768045	87	S>T		No	ClinGen gnomAD
rs773444404 CA399768071 CA8600868	88	D>E		No	ClinGen ExAC TOPMed gnomAD
CA399768076 rs1159468963	89	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1159468963 CA399768082	89	G>W		No	ClinGen gnomAD
rs538779729 CA290929874	91	R>Q		No	ClinGen TOPMed gnomAD
rs773074935 CA8600869	91	R>W		No	ClinGen ExAC gnomAD
rs765838799 CA8600871	97	I>V		No	ClinGen ExAC TOPMed gnomAD
CA399768249 rs1261751920	98	R>Q		No	ClinGen TOPMed
CA399768375 rs1196590217	106	N>H		No	ClinGen gnomAD
rs759032986 CA8600873	106	N>K		No	ClinGen ExAC gnomAD
CA399768434 rs1555603590	108	C>F		No	ClinGen Ensembl
rs764934377 CA8600874	109	V>L		No	ClinGen ExAC gnomAD
CA399768486 rs752314597	111	S>C		No	ClinGen ExAC gnomAD
CA8600875 rs752314597	111	S>G		No	ClinGen ExAC gnomAD
CA8600876 rs757607873	111	S>N		No	ClinGen ExAC gnomAD
rs1469230241 CA399768520	113	E>K		No	ClinGen gnomAD
TCGA novel	116	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8600878 rs750920300	119	S>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	120	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399768712 rs1441605195	121	A>V		No	ClinGen gnomAD
CA399768725 rs756573890	122	R>P		No	ClinGen ExAC TOPMed gnomAD
rs756573890 CA8600879	122	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA399768718 rs1179270790	122	R>W		No	ClinGen TOPMed gnomAD
CA8600880 rs780297731	124	K>T		No	ClinGen ExAC gnomAD
rs377167401 CA8600890	126	R>Q		No	ClinGen ESP ExAC gnomAD
CA8600889 COSM979932 COSM1588915 rs770957746	126	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs563233289 CA399768894	130	R>P		No	ClinGen 1000Genomes ExAC gnomAD
COSM1479631 CA8600891 rs563233289 COSM1479630	130	R>Q	Variant assessed as Somatic; 4.646e-05 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA290930092 rs202157280	137	R>C		No	ClinGen Ensembl
rs1417453697 CA399769022	137	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs867866349 CA290930106	140	E>K		No	ClinGen Ensembl
rs1422833485 CA399769129	142	I>V		No	ClinGen gnomAD
rs1001344914 CA290930107	144	T>A		No	ClinGen TOPMed
CA8600893 rs775142286	144	T>M		No	ClinGen ExAC gnomAD
rs1162451389 CA399769199 COSM120062	147	R>C	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1001578650 CA290930139	150	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1439985223 CA399769269	151	T>I		No	ClinGen TOPMed
rs1297590029	152	T>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA399769273 rs1251690281	152	T>A		No	ClinGen TOPMed
rs1598328325 CA399769539	156	Y>*		No	ClinGen Ensembl
rs760082395 CA8600921	158	S>T		No	ClinGen ExAC TOPMed gnomAD
CA8600922 rs765412588	160	A>S		No	ClinGen ExAC gnomAD
rs374457409 CA8600923	162	M>V		No	ClinGen ESP ExAC gnomAD
CA399769752 rs1159064345	168	T>N		No	ClinGen TOPMed
CA399769871 rs1433997814	173	M>I		No	ClinGen TOPMed
rs367718078 CA8600925	175	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	176	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8600928 rs780922444	180	I>V		No	ClinGen ExAC TOPMed gnomAD
CA399770061 rs1191001601	183	S>I		No	ClinGen TOPMed
rs1327153885 CA399770309	192	D>G		No	ClinGen gnomAD
rs1194842098 CA399770301	192	D>H		No	ClinGen TOPMed
CA290931573 rs1010626883	195	T>A		No	ClinGen TOPMed gnomAD
CA8600949 rs540533779	195	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8600948 rs540533779	195	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs868638040 CA290931575	196	P>L		No	ClinGen Ensembl
rs749161329 CA8600951	197	V>A		No	ClinGen ExAC gnomAD
TCGA novel	200	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM300495 rs754541765 CA8600952	200	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1272330909 CA399771307	201	Y>F		No	ClinGen gnomAD
CA399771430 rs1278995775	210	S>I		No	ClinGen TOPMed
rs1270569905 CA399771504	212	D>N		No	ClinGen gnomAD
CA290931868 rs865998553	215	T>M		No	ClinGen TOPMed gnomAD
CA290931879 rs373854207	216	D>E		No	ClinGen TOPMed gnomAD
rs1281785700 CA399771557	216	D>H		No	ClinGen gnomAD
CA290931882 rs774831581	217	E>*		No	ClinGen ExAC TOPMed gnomAD
CA8600980 rs774831581	217	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs868065055 CA290931883	219	E>K		No	ClinGen Ensembl
CA399771623 rs1598329076	220	R>L		No	ClinGen Ensembl
CA399771615 rs761924848	220	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1598329090 CA399771652	222	S>I		No	ClinGen Ensembl
CA399771659 rs377627146	223	A>S		No	ClinGen gnomAD
rs377627146 CA290931938	223	A>T		No	ClinGen gnomAD
CA399771674 rs1237644225	224	E>D		No	ClinGen TOPMed gnomAD
rs1475350029 CA399771668	224	E>G		No	ClinGen gnomAD
CA290931955 rs1031689162	224	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1166713956 CA399771684	225	S>N		No	ClinGen gnomAD
CA399771711 rs1396935964	227	T>A		No	ClinGen gnomAD
CA399771792 rs1435490802	233	P>A		No	ClinGen gnomAD
CA399771793 rs1435490802	233	P>S		No	ClinGen gnomAD
CA399771824 rs1258904683	235	H>R		No	ClinGen gnomAD
CA8600982 rs772119514	242	T>P		No	ClinGen ExAC
rs708386 CA399771899 CA399771900	243	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	244	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399771913 rs1325666070	245	D>G		No	ClinGen TOPMed gnomAD
COSM4138145 rs766201594 COSM4138146 CA399771909	245	D>N	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
CA8600985 rs766201594	245	D>Y		No	ClinGen ExAC TOPMed
CA399771942 rs1209191800	249	S>G		No	ClinGen gnomAD
CA399771986 rs1242283562	254	M>T		No	ClinGen TOPMed gnomAD
CA399772001 rs1352640831	256	Q>*		No	ClinGen TOPMed
CA399772011 rs1305585208	257	K>R		No	ClinGen TOPMed gnomAD
CA8600986 rs753519531	259	R>L		No	ClinGen ExAC gnomAD
rs759363165 CA8600987	260	I>N		No	ClinGen ExAC gnomAD
rs1460186617 CA399772035	261	V>F		No	ClinGen TOPMed gnomAD
CA399772034 COSM1383645 rs1460186617 COSM1383646	261	V>I	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs765333491 CA8600988	262	Y>C		No	ClinGen ExAC gnomAD
rs1598329306 CA399772065	265	K>R		No	ClinGen Ensembl
rs1363494576 CA399772084	266	G>D		No	ClinGen gnomAD
rs1598329662 CA399772117	271	L>V		No	ClinGen Ensembl
rs1166742298 CA399772130	273	R>H		No	ClinGen gnomAD
rs1166742298 CA399772132	273	R>L		No	ClinGen gnomAD
rs1166742298 CA399772131	273	R>P		No	ClinGen gnomAD
CA399772144 rs1279628098	276	E>K		No	ClinGen TOPMed
CA290932186 rs1043217040	282	L>M		No	ClinGen TOPMed gnomAD
CA8600997 rs779447825	284	A>E		No	ClinGen ExAC gnomAD
CA399772222 rs191512252	287	R>P		No	ClinGen 1000Genomes gnomAD
CA290932202 rs191512252	287	R>Q		No	ClinGen 1000Genomes gnomAD
rs1446430708 CA399772248	292	Q>K		No	ClinGen TOPMed
rs1295451841 CA399772252	292	Q>R		No	ClinGen gnomAD
CA399772261 rs1337465397	294	E>K		No	ClinGen TOPMed
rs550791513 CA8600998	296	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA8600999 rs772174602	297	A>E		No	ClinGen ExAC gnomAD
CA399772299 rs1465104351	299	Q>H		No	ClinGen TOPMed
CA399772305 rs1398213374	300	N>S		No	ClinGen TOPMed
CA290932235 rs867023256	302	R>H		No	ClinGen TOPMed
CA290932239 rs867023256	302	R>L		No	ClinGen TOPMed
rs1598329811 CA399772325	303	E>G		No	ClinGen Ensembl
CA8601000 rs773210881	303	E>K		No	ClinGen ExAC gnomAD
TCGA novel	307	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1563815 COSM1563814 rs1249914630 CA399772363	309	G>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA399772372 rs1412764680	310	V>E		No	ClinGen TOPMed
CA399772370 rs1482173695	310	V>L		No	ClinGen TOPMed gnomAD
CA399772401 rs1474797499	315	Q>*		No	ClinGen gnomAD
rs760965828 CA8601001	318	L>R		No	ClinGen ExAC
CA399772441 rs1254054070	319	T>S		No	ClinGen gnomAD
rs1387753792 CA399772450	320	G>A		No	ClinGen gnomAD
rs1352963347 CA399772461	322	I>T		No	ClinGen TOPMed
CA8601014 rs374637818	324	S>N		No	ClinGen ESP ExAC gnomAD
CA290932810 rs926187574	326	H>Q		No	ClinGen TOPMed gnomAD
rs1464230905 CA399772495	327	A>D		No	ClinGen gnomAD
CA399772505 rs779213235	329	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA290932819 rs934852731	330	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA8601016 rs748663000	332	G>S		No	ClinGen ExAC gnomAD
CA399772534 rs1295547304	334	K>E		No	ClinGen TOPMed gnomAD
rs1363102871 CA399772551	336	L>F		No	ClinGen gnomAD
CA8601017 rs758846620	338	T>I		No	ClinGen ExAC TOPMed gnomAD
rs771802762 CA399772566	339	P>A		No	ClinGen ExAC gnomAD
CA290932844 rs866941152	339	P>F		No	ClinGen Ensembl
rs771802762 CA8601018	339	P>S		No	ClinGen ExAC gnomAD
rs771802762 CA290932846	339	P>T		No	ClinGen ExAC gnomAD
CA399772579 rs1262252894	341	V>G		No	ClinGen gnomAD
rs922738707 CA290932865	341	V>L		No	ClinGen TOPMed gnomAD
rs771014523 CA8601020	343	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA8601021 rs776739126	345	P>S		No	ClinGen ExAC gnomAD
rs377485717 CA8601023	346	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs990694117 CA399772615	347	L>V		No	ClinGen TOPMed gnomAD
CA399772622 rs916530588	348	G>A		No	ClinGen TOPMed
CA290932885 rs916530588	348	G>E		No	ClinGen TOPMed
TCGA novel	348	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399772642 rs1567857371	351	N>K		No	ClinGen Ensembl
TCGA novel	351	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1364482097 CA399772637	351	N>Y		No	ClinGen TOPMed
rs1160899031 CA399772646	352	G>E		No	ClinGen gnomAD
rs775366864 CA8601024	352	G>R		No	ClinGen ExAC gnomAD
CA399772651 rs774311284	353	A>D		No	ClinGen ExAC gnomAD
CA399772650 rs374238223	353	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8601026 rs374238223	353	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs774311284 CA8601027	353	A>V		No	ClinGen ExAC gnomAD
CA8601029 rs767007093	354	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1598331057 CA399772657	354	E>G		No	ClinGen Ensembl
rs761275987 CA8601028	354	E>K		No	ClinGen ExAC gnomAD
rs750077745 CA8601030	355	G>A		No	ClinGen ExAC gnomAD
CA399772661 rs1304195240	355	G>R		No	ClinGen TOPMed gnomAD
CA399772660 rs1304195240	355	G>S		No	ClinGen TOPMed gnomAD
CA8601031 rs199988752	356	A>P		No	ClinGen ExAC gnomAD
CA399772665 rs199988752	356	A>T		No	ClinGen ExAC gnomAD
rs765600100 CA8601032	357	S>G		No	ClinGen ExAC TOPMed gnomAD
CA399772673 rs1359445255	357	S>T		No	ClinGen TOPMed gnomAD
rs1317283478 CA399772678	358	N>D		No	ClinGen gnomAD
CA399772681 rs1225411293	358	N>S		No	ClinGen TOPMed
CA290932929 rs946368740	359	S>F		No	ClinGen Ensembl
rs753118081 CA8601033	360	K>R		No	ClinGen ExAC gnomAD
rs1350710108 CA399772698	361	L>F		No	ClinGen TOPMed
rs1469729797 CA399772707	362	Y>C		No	ClinGen gnomAD
rs1011953281 CA290933105	367	F>I		No	ClinGen TOPMed gnomAD
rs62640053 CA8601052	368	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399772758 rs1357128677	368	M>L		No	ClinGen gnomAD
CA399772763 rs1415228420	368	M>R		No	ClinGen gnomAD
CA399772762 rs1415228420	368	M>T		No	ClinGen gnomAD
rs1354118502 CA399772767	369	S>G		No	ClinGen gnomAD
rs1598331425 CA399772800	374	S>P		No	ClinGen Ensembl
rs1325076486 CA399772824	377	A>G		No	ClinGen TOPMed
rs1306458536 CA399772828	378	S>N		No	ClinGen gnomAD
CA399772836 rs1365340052	379	L>P		No	ClinGen gnomAD
rs1202584604 CA399772845	380	S>R		No	ClinGen gnomAD
rs529238243 CA8601053	382	D>V		No	ClinGen 1000Genomes ExAC gnomAD
CA290933137 rs967772007	385	R>H		No	ClinGen TOPMed gnomAD
CA399772877 rs967772007	385	R>L		No	ClinGen TOPMed gnomAD
CA399772873 rs1189007651	385	R>S		No	ClinGen gnomAD
CA399772904 rs1188847577	390	T>A		No	ClinGen gnomAD
COSM1383647 CA399772908 rs1420276191 COSM1383648	390	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA399772910 rs1429263146	391	R>W		No	ClinGen gnomAD
CA399772918 rs1166933288	392	D>G		No	ClinGen TOPMed gnomAD
CA399772917 rs1166933288	392	D>V		No	ClinGen TOPMed gnomAD
CA399772939 rs1377440602	395	P>A		No	ClinGen gnomAD
CA399772943 rs1346373166	395	P>L		No	ClinGen TOPMed
CA399772945 rs1435607431	396	W>R		No	ClinGen gnomAD
CA399772953 rs1333589874	397	G>S		No	ClinGen TOPMed
CA290933148 rs979503843	398	P>L		No	ClinGen TOPMed gnomAD
rs745367348 CA8601087	402	D>N		No	ClinGen ExAC gnomAD
rs1250755390 CA399773257	402	D>V		No	ClinGen gnomAD
rs1471524476 CA399773266	403	P>S		No	ClinGen gnomAD
CA8601088 rs550029507	404	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1160908809 CA399773304	406	S>Y		No	ClinGen TOPMed gnomAD
rs1410153986 CA399773318	407	M>I		No	ClinGen gnomAD
CA399773330 rs1199457201	408	L>P		No	ClinGen TOPMed
rs1445953433 CA399773346	410	L>F		No	ClinGen TOPMed
TCGA novel	410	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399773353 rs1295508924	410	L>P		No	ClinGen gnomAD
CA8601090 rs762282966	411	C>*		No	ClinGen ExAC TOPMed gnomAD
CA399773363 rs1567859395	411	C>Y		No	ClinGen Ensembl
rs1263730152 CA399773378	412	G>D		No	ClinGen gnomAD
CA8601092 rs773884491	412	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1274259515 CA399773417	415	A>V		No	ClinGen gnomAD
rs892294811 CA290936696	417	I>T		No	ClinGen Ensembl
rs538621161 CA290936694	417	I>V		No	ClinGen 1000Genomes
rs1287791200 CA399773454	419	S>R		No	ClinGen TOPMed gnomAD
rs1189719822 CA399773478	420	C>F		No	ClinGen gnomAD
rs957987180 CA290936699	420	C>R		No	ClinGen TOPMed
rs1185381727 CA399773497	421	K>N		No	ClinGen gnomAD
CA399773484 rs1423123326	421	K>Q		No	ClinGen gnomAD
rs997791209 CA290936701	423	L>P		No	ClinGen TOPMed gnomAD
CA399773521 rs1391640909	424	A>T		No	ClinGen gnomAD
rs1429902795 CA399773528 COSM399348	424	A>V	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs546939606 CA399773598	429	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs541394862 CA290936717	430	E>D		No	ClinGen Ensembl
CA8601095 rs754032373	430	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1395921989 CA399773655	434	S>G		No	ClinGen gnomAD
rs1007499206 CA290936734	434	S>N		No	ClinGen gnomAD
rs9902629 CA8601096	435	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399773689 rs1229158447	436	S>N		No	ClinGen TOPMed gnomAD
CA399773683 rs1328259274	436	S>R		No	ClinGen gnomAD
CA399773704 rs1296970638	437	P>H		No	ClinGen gnomAD
TCGA novel	437	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs192961919 CA8601099	438	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1482843856 CA399773730	439	G>A		No	ClinGen TOPMed gnomAD
CA399773734 rs1482843856	439	G>D		No	ClinGen TOPMed gnomAD
rs1198650668 CA399773742	440	S>N		No	ClinGen TOPMed gnomAD
rs920275011 CA290936757	442	A>T		No	ClinGen TOPMed gnomAD
CA399773768 rs1450013485	442	A>V		No	ClinGen gnomAD
rs747993506 CA290936762	445	P>T		No	ClinGen Ensembl
CA399773814 rs1455292043	446	S>N		No	ClinGen gnomAD
CA290936763 rs928967479	447	S>G		No	ClinGen TOPMed

No associated diseases with Q59EK9

2 regional properties for Q59EK9

Type	Name	Position	InterPro Accession
domain	RUN domain	52 - 189	IPR004012
domain	RUN domain-containing protein 3A, RUN domain	30 - 185	IPR047338

Functions

		Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 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.
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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

1 GO annotations of molecular function

Name	Definition
GTPase regulator activity	Binds to and modulates the activity of a GTPase.

2 GO annotations of biological process

Name	Definition
positive regulation of cGMP-mediated signaling	Any process that increases the rate, frequency or extent of cGMP-mediated signaling.
small GTPase mediated signal transduction	The series of molecular signals in which a small monomeric GTPase relays a signal.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q08E29	RUNDC3B	RUN domain-containing protein 3B	Bos taurus (Bovine)	PR
Q17QK1	RUNDC3A	RUN domain-containing protein 3A	Bos taurus (Bovine)	PR
Q6PDC0	Rundc3b	RUN domain-containing protein 3B	Mus musculus (Mouse)	PR
O08576	Rundc3a	RUN domain-containing protein 3A	Mus musculus (Mouse)	PR
Q0V9V7	rundc3a	RUN domain-containing protein 3A	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR

10	20	30	40	50	60
MEASFVQTTM	ALGLSSKKAS	SRNVAVERKN	LITVCRFSVK	TLLEKYTAEP	IDDSSEEFVN
70	80	90	100	110	120
FAAILEQILS	HRFKACAPAG	PVSWFSSDGQ	RGFWDYIRLA	CSKVPNNCVS	SIENMENIST
130	140	150	160	170	180
ARAKGRAWIR	VALMEKRMSE	YITTALRDTR	TTRRFYDSGA	IMLRDEATIL	TGMLIGLSAI
190	200	210	220	230	240
DFSFCLKGEV	LDGKTPVVID	YTPYLKFTQS	YDYLTDEEER	HSAESSTSED	NSPEHPYLPL
250	260	270	280	290	300
VTDEDSWYSK	WHKMEQKFRI	VYAQKGYLEE	LVRLRESQLK	DLEAENRRLQ	LQLEEAAAQN
310	320	330	340	350	360
QREKRELEGV	ILELQEQLTG	LIPSDHAPLA	QGSKELTTPL	VNQWPSLGTL	NGAEGASNSK
370	380	390	400	410	420
LYRRHSFMST	EPLSAEASLS	SDSQRLGEGT	RDEEPWGPIG	KDPTPSMLGL	CGSLASIPSC
430	440
KSLASFKSNE	CLVSDSPEGS	PALSPS