AiPD: Autoinhibited Protein Database

Q9H0H5

Gene name	RACGAP1
Protein name	Rac GTPase-activating protein 1
Names	Male germ cell RacGap, MgcRacGAP, Protein CYK4 homolog, CYK4, HsCYK-4
Species	Homo sapiens (Human)
KEGG Pathway	hsa:29127
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

534-632 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

534-632 (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

8 structures for Q9H0H5

Entry ID	Method	Resolution	Chain	Position	Source
2OVJ	X-ray	149 A	A	348-546	PDB
3W6R	X-ray	190 A	A	348-546	PDB
3WPQ	X-ray	184 A	A/B	346-546	PDB
3WPS	X-ray	270 A	A/B	346-546	PDB
4B6D	X-ray	220 A	A/B/C/D/E/F	284-339	PDB
5C2J	X-ray	250 A	A	346-546	PDB
5C2K	X-ray	142 A	A	346-546	PDB
AF-Q9H0H5-F1	Predicted				AlphaFoldDB

386 variants for Q9H0H5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
VAR_087032	396	L>Q	CDAN3B; decreased function in erythropoiesis as shown by partial rescue of multinucleation defects in RACGAP1-deficient erythroid cells; decreased GAP activity towards RHOA, RAC1 and CDC42 [UniProt]	Yes	UniProt
CA6560123 rs760038605 VAR_087033	432	P>S	CDAN3B; loss of function in erythropoiesis as it does not rescue multinucleation and cytokinesis defects in RACGAP1-deficient erythroid and Hela cells; increased GAP activity towards RHOA; no effect on GAP activity towards RAC1 and CDC42 [UniProt]	Yes	ClinGen ExAC gnomAD UniProt
CA6560450 rs140219914	4	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	5	M>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs973283620 CA236735414	5	M>T		No	ClinGen TOPMed
rs1471970177 CA384785151	6	L>Q		No	ClinGen gnomAD
rs1565698699 CA384785150	7	N>H		No	ClinGen Ensembl
rs780879432 CA6560449	7	N>S		No	ClinGen ExAC gnomAD
CA384785137 rs1323240647	8	V>M		No	ClinGen TOPMed
COSM1362205 CA6560446 rs202081087	9	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs751070066 CA6560447	9	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs146666633 CA6560445	10	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA384785074 rs1407100206	12	F>L		No	ClinGen TOPMed gnomAD
rs1204756831 CA384785060	13	E>D		No	ClinGen Ensembl
CA236735371 rs909918038	14	Q>H		No	ClinGen Ensembl
CA384785035 rs1214634526	15	L>P		No	ClinGen TOPMed
TCGA novel	16	V>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA236735367 rs985560724	17	R>C		No	ClinGen gnomAD
rs765698830 CA6560443	17	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs765698830 CA6560444	17	R>P		No	ClinGen ExAC gnomAD
rs149682099 CA6560441	18	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs149682099 CA6560440	18	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA6560442 rs760047597	18	R>W		No	ClinGen ExAC TOPMed gnomAD
CA6560438 rs767248256	20	E>D		No	ClinGen ExAC TOPMed gnomAD
rs768589734 CA6560437	23	S>G		No	ClinGen ExAC gnomAD
TCGA novel	24	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384784891 rs1164573098	26	N>H		No	ClinGen TOPMed
rs1380296383 CA384784858	28	V>I		No	ClinGen TOPMed
rs1458234415 CA384784844	29	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1458234415 CA384784847	29	Q>K		No	ClinGen gnomAD
CA384783715 rs1565681699	34	A>T		No	ClinGen Ensembl
CA6560419 rs767501903	34	A>V		No	ClinGen ExAC TOPMed gnomAD
rs377516978 CA6560417	36	D>N		No	ClinGen ESP ExAC gnomAD
rs139511040 CA6560416	37	F>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776428359 CA6560414	41	R>C		No	ClinGen ExAC gnomAD
rs558989049 CA6560413	41	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA6560412 rs746642329	42	K>Q		No	ClinGen ExAC gnomAD
CA6560411 rs777546752	45	Q>E		No	ClinGen ExAC gnomAD
CA6560409 rs142606296	49	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA236728578 rs1009156978	50	E>V		No	ClinGen TOPMed
rs755577538 CA6560407	53	K>Q		No	ClinGen ExAC gnomAD
rs754207732 CA6560406	55	K>R		No	ClinGen ExAC gnomAD
rs370346154 CA6560404	56	D>A		No	ClinGen ESP ExAC gnomAD
rs780296236 CA6560405	56	D>Y		No	ClinGen ExAC gnomAD
CA236728539 rs889400293	59	M>T		No	ClinGen TOPMed
rs1282878799 CA384783314	64	E>K		No	ClinGen gnomAD
CA6560402 rs199804721	65	R>*		No	ClinGen 1000Genomes ExAC gnomAD
CA236728526 rs951272773	65	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA384783300 rs1371133121	66	S>N		No	ClinGen TOPMed
rs1170448504 CA384783303	66	S>R		No	ClinGen TOPMed
CA384783290 rs1565681354	67	A>V		No	ClinGen Ensembl
rs751670068 CA6560400	69	D>G		No	ClinGen ExAC gnomAD
rs139702064 CA6560401	69	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1302696154 CA384783220	74	H>L		No	ClinGen TOPMed
rs1365577821 CA384783203	76	R>C		No	ClinGen TOPMed
rs759482511 CA6560398 COSM3782734	76	R>H	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1323165148 CA384783197	77	N>H		No	ClinGen gnomAD
rs776339543 CA6560397	77	N>S		No	ClinGen ExAC gnomAD
rs766081912 CA6560396	79	V>G		No	ClinGen ExAC TOPMed gnomAD
CA6560395 rs760578582	81	V>A		No	ClinGen ExAC gnomAD
CA384783110 rs1225742751	84	K>R		No	ClinGen TOPMed
CA6560393 rs771797675	85	R>Q		No	ClinGen ExAC gnomAD
rs772719686 CA6560394	85	R>W		No	ClinGen ExAC TOPMed
CA6560392 rs200432429	88	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200432429 CA384783069	88	R>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1222393587 CA384783062	89	A>T		No	ClinGen TOPMed
CA6560391 rs147422831	94	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	96	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384782973 rs1260559193	96	L>R		No	ClinGen TOPMed
CA384782978 rs1191433382	96	L>V		No	ClinGen TOPMed
rs1357139297 CA384782906	97	E>K		No	ClinGen gnomAD
rs142919132 CA236727783	98	R>*		No	ClinGen ESP TOPMed gnomAD
rs773935501 CA6560371	98	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs768280322 CA6560370	99	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs140668667 CA6560369	100	I>F		No	ClinGen ESP ExAC gnomAD
CA6560368 rs775826358	101	Q>H		No	ClinGen ExAC gnomAD
rs770360813 COSM1222975 CA6560367	104	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs770360813 CA384782835	104	R>G		No	ClinGen ExAC gnomAD
CA384782832 rs1432847753	104	R>Q		No	ClinGen gnomAD
CA384782819 COSM940281 rs1592171942	105	E>D	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
CA384782807 rs1592171924	106	M>I		No	ClinGen Ensembl
rs746166270 CA6560366	107	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1264350226 CA384782781	108	M>I		No	ClinGen Ensembl
CA384782786 rs1177704178	108	M>T		No	ClinGen gnomAD
rs1159967609 CA384782776	109	C>R		No	ClinGen gnomAD
rs147242355 CA6560365	114	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6560361 rs758453171	119	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	123	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6560360 rs752863917	124	A>T		No	ClinGen ExAC TOPMed gnomAD
CA384782588 rs779817518	126	A>D		No	ClinGen ExAC gnomAD
CA6560359 rs779817518	126	A>V		No	ClinGen ExAC gnomAD
CA6560358 rs756099706	129	N>D		No	ClinGen ExAC gnomAD
rs1172913070 CA384782568	129	N>K		No	ClinGen TOPMed
CA6560357 rs138198274	129	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1275993571 CA384782550	132	Q>P		No	ClinGen gnomAD
CA6560356 rs767427758	133	P>Q		No	ClinGen ExAC gnomAD
rs763877876 CA6560353	138	A>V		No	ClinGen ExAC gnomAD
CA6560352 rs762326710	139	G>R		No	ClinGen ExAC TOPMed gnomAD
CA384782505 rs762326710	139	G>W		No	ClinGen ExAC TOPMed gnomAD
rs775085125 CA6560351	140	N>S		No	ClinGen ExAC gnomAD
rs760092336 CA6560349	141	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs200039448 CA236727111	145	T>N		No	ClinGen Ensembl
CA384782451 rs1255343882	146	I>V		No	ClinGen TOPMed
TCGA novel	148	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759008488 CA236727100	154	S>L		No	ClinGen Ensembl
rs373124379 CA6560334	156	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	156	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384782376 rs1475285148	157	S>G		No	ClinGen gnomAD
CA384782361 rs752080762	159	D>N		No	ClinGen ExAC TOPMed gnomAD
CA6560333 rs752080762	159	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA6560331 rs759025483	164	S>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	168	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764213023 CA236725842	168	D>Y		No	ClinGen Ensembl
CA6560321 rs768771315	170	S>F		No	ClinGen ExAC TOPMed gnomAD
CA384782176 rs1250859337	171	L>W		No	ClinGen gnomAD
TCGA novel	174	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA236725810 rs1031274115 CA236725809	183	R>S		No	ClinGen TOPMed gnomAD
CA6560303 rs773499634 COSM940280	184	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs150860055 CA6560302	184	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs773499634 CA384781980	184	R>S		No	ClinGen ExAC TOPMed gnomAD
CA6560301 rs368821620 COSM1744226	186	T>A	biliary_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA384781956 rs1403121176	186	T>I		No	ClinGen TOPMed
rs368821620 CA236725388	186	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1203753226 CA384781953	187	S>G		No	ClinGen Ensembl
rs774613359 CA384781947	187	S>I		No	ClinGen ExAC gnomAD
rs774613359 CA6560300	187	S>T		No	ClinGen ExAC gnomAD
rs1409768843 CA384781941	188	R>*		No	ClinGen TOPMed
rs768802848 CA6560299	188	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs749330714 CA6560298	191	V>L		No	ClinGen ExAC gnomAD
CA384781879 rs1304661473	194	P>L		No	ClinGen gnomAD
rs1311937390 CA384781883	194	P>T		No	ClinGen gnomAD
CA384781864 rs1237024304	195	P>L		No	ClinGen gnomAD
rs191975259 CA6560296	196	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747901095 CA236725306	197	P>L		No	ClinGen TOPMed gnomAD
rs1565673482 CA384781851	197	P>S		No	ClinGen Ensembl
rs770921468 CA6560295	198	V>I		No	ClinGen ExAC gnomAD
rs1338278819 CA384781837	199	K>E		No	ClinGen TOPMed
CA384781819 rs1290224444	200	K>N		No	ClinGen gnomAD
rs746938824 CA6560294	202	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6560293 rs372329078 COSM3728253	202	R>H	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA6560292 rs758188617	203	S>C		No	ClinGen ExAC gnomAD
CA236725288 rs938224004	206	S>T		No	ClinGen Ensembl
rs1455470334 CA384781753	207	A>V		No	ClinGen gnomAD
rs368198080 CA6560291	209	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1592158607 CA384781723	210	Q>R		No	ClinGen Ensembl
CA6560274 rs745993628	211	G>E		No	ClinGen ExAC gnomAD
rs370491560 CA6560273	212	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs747929057 CA6560271	213	E>K		No	ClinGen ExAC gnomAD
rs1196792942 CA384781588	215	I>V		No	ClinGen gnomAD
CA6560270 rs778587819	217	A>T		No	ClinGen ExAC gnomAD
rs1264268274 CA384781524	220	T>A		No	ClinGen gnomAD
TCGA novel	222	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6560268 rs376210515	224	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA384781467 rs1302503193	225	N>D		No	ClinGen gnomAD
rs1416281279 CA384781461	225	N>S		No	ClinGen TOPMed gnomAD
CA384781441 rs1327918787	226	D>G		No	ClinGen gnomAD
rs374315258 CA6560265	228	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1592152181 CA384781408	229	P>A		No	ClinGen Ensembl
CA6560264 rs141502776	231	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1418672207 CA384781369	232	A>T		No	ClinGen gnomAD
rs1251412065 CA384781323	236	I>V		No	ClinGen gnomAD
rs751881495 CA236724282	238	T>I		No	ClinGen ExAC TOPMed gnomAD
CA6560262 rs751881495	238	T>S		No	ClinGen ExAC TOPMed gnomAD
CA236724277 rs949266571	239	V>G		No	ClinGen Ensembl
CA6560260 rs763469085	240	P>A		No	ClinGen ExAC gnomAD
CA6560258 rs765595349	242	W>R		No	ClinGen ExAC gnomAD
rs1592152010 CA384781203	245	S>N		No	ClinGen Ensembl
rs982562302 CA236724270	246	R>*		No	ClinGen Ensembl
rs879224312 CA384781190	246	R>P		No	ClinGen TOPMed gnomAD
rs879224312 CA236724266	246	R>Q		No	ClinGen TOPMed gnomAD
rs1487823955 CA384781182	247	R>K		No	ClinGen gnomAD
TCGA novel	247	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384781073 rs1479663830	251	T>I		No	ClinGen TOPMed
CA236724106 rs897470011	251	T>P		No	ClinGen TOPMed
CA384781042 rs1565669825	254	P>S		No	ClinGen Ensembl
CA236724097 rs199853751	255	W>R		No	ClinGen 1000Genomes
rs1233343271 CA384780999	256	N>K		No	ClinGen gnomAD
rs1371632188 CA384780983	257	S>R		No	ClinGen gnomAD
rs1327911161 CA384780975	258	D>A		No	ClinGen gnomAD
rs1344687920 CA384780958	259	S>C		No	ClinGen gnomAD
rs1344687920 CA384780956	259	S>F		No	ClinGen gnomAD
rs766365990 CA6560235	259	S>P		No	ClinGen ExAC gnomAD
rs760867809 CA6560234	260	T>I		No	ClinGen ExAC gnomAD
CA6560233 rs187535127	261	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6560232 rs768625559	263	S>I		No	ClinGen ExAC gnomAD
rs1397421253 CA384780882	265	Q>E		No	ClinGen gnomAD
rs775289695 CA6560230	273	D>N		No	ClinGen ExAC gnomAD
CA384780745 rs1241051530	275	V>M		No	ClinGen gnomAD
rs769367567 CA6560229	277	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1391411522 CA384780702	278	P>L		No	ClinGen TOPMed
CA6560227 rs776399169	279	Q>H		No	ClinGen ExAC gnomAD
rs770321403 CA6560226	280	S>C		No	ClinGen ExAC gnomAD
CA384780683 rs770321403	280	S>G		No	ClinGen ExAC gnomAD
rs746569413 CA6560225	281	N>D		No	ClinGen ExAC TOPMed gnomAD
rs778382374 CA6560224	282	G>E		No	ClinGen ExAC gnomAD
rs758995379 CA6560223	285	R>C		No	ClinGen ExAC gnomAD
rs1361298541 CA384780612	285	R>H		No	ClinGen TOPMed gnomAD
rs758995379 CA384780615	285	R>S		No	ClinGen ExAC gnomAD
rs369992135 CA236724056	291	S>C		No	ClinGen ESP TOPMed
CA6560221 rs377260431	293	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA384780219 rs1415660382	294	V>L		No	ClinGen gnomAD
CA384780171 rs1043322181	301	V>F		No	ClinGen TOPMed gnomAD
CA236723245 rs1043322181	301	V>I		No	ClinGen TOPMed gnomAD
CA919084374 rs1555171350	302	P>I		No	ClinGen TOPMed
TCGA novel	306	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1411086350 CA384780129	307	I>T		No	ClinGen gnomAD
rs201577423 CA6560205	311	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs748662276 CA6560204	312	L>F		No	ClinGen ExAC gnomAD
rs779621966 CA6560203	313	S>F		No	ClinGen ExAC gnomAD
rs138973893 CA6560202	315	K>R		No	ClinGen ESP ExAC gnomAD
CA6560200 rs780103010	317	R>*		No	ClinGen ExAC TOPMed gnomAD
CA6560199 rs756383824	317	R>Q		No	ClinGen ExAC gnomAD
rs750448062 CA6560198	320	R>C		No	ClinGen ExAC gnomAD
CA384780045 rs1272653493	320	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1231224057 CA384780036	322	V>I		No	ClinGen TOPMed
CA6560195 rs752606761	328	R>Q		No	ClinGen ExAC gnomAD
CA6560196 rs757381246	328	R>W		No	ClinGen ExAC TOPMed gnomAD
rs765257119 CA6560194	330	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs765257119 CA236723192	330	R>G		No	ClinGen ExAC TOPMed gnomAD
CA6560193 rs759210166	330	R>H		No	ClinGen ExAC TOPMed gnomAD
rs765889734 CA6560191	331	C>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	332	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1419558596 CA384779959	334	P>S		No	ClinGen TOPMed gnomAD
CA6560188 rs771697779	337	P>S		No	ClinGen ExAC gnomAD
rs1178831102 CA384779934	338	T>A		No	ClinGen gnomAD
rs1255048904 CA384779902	340	I>M		No	ClinGen gnomAD
rs769239592 CA6560185	340	I>V		No	ClinGen ExAC TOPMed gnomAD
CA236723164 rs763861673	342	T>I		No	ClinGen TOPMed gnomAD
rs1469888273 CA384779868	343	P>H		No	ClinGen gnomAD
rs1166334426 CA384779830	346	I>T		No	ClinGen TOPMed
rs1238637858 CA384779835	346	I>V		No	ClinGen gnomAD
rs1391625210 CA384779803	348	E>D		No	ClinGen TOPMed
CA384779288 rs1362223088	350	M>L		No	ClinGen gnomAD
CA6560158 rs771162973	350	M>T		No	ClinGen ExAC gnomAD
TCGA novel	357	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384779199 rs1264055600	358	T>I		No	ClinGen gnomAD
rs1429258120 CA384779202	358	T>P		No	ClinGen TOPMed gnomAD
rs755942983 CA6560152	361	M>V		No	ClinGen ExAC gnomAD
CA384779170 rs746194849	362	I>M		No	ClinGen TOPMed gnomAD
CA6560150 rs767233141	366	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1337984875 CA384779143	367	V>L		No	ClinGen gnomAD
rs141436857 CA6560148	370	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1465579525 CA384779104	372	E>D		No	ClinGen gnomAD
CA384779098 rs1279650317	373	I>T		No	ClinGen gnomAD
CA236721792 rs975040623	375	Q>*		No	ClinGen Ensembl
CA384779073 rs1409254313	377	G>S		No	ClinGen TOPMed
CA384779027 rs1370810943	382	G>D		No	ClinGen TOPMed
rs1246644591 CA384779012	384	Y>*		No	ClinGen gnomAD
CA384778988 rs1464208198	388	G>D		No	ClinGen Ensembl
CA6560136 rs772169750	389	C>Y		No	ClinGen ExAC gnomAD
rs748218234 CA6560135	391	R>C		No	ClinGen ExAC TOPMed gnomAD
CA236721660 rs777138582	391	R>H		No	ClinGen TOPMed gnomAD
rs1214453438 CA384778920	398	E>D		No	ClinGen TOPMed
rs201777331 CA236721645	398	E>G		No	ClinGen 1000Genomes
rs780003262 CA6560134	402	R>S		No	ClinGen ExAC gnomAD
CA384778890 rs1418834008	403	V>M		No	ClinGen gnomAD
TCGA novel rs1592134174 CA384778875	405	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
CA384778859 rs1483965977	407	P>L		No	ClinGen gnomAD
CA236721632 rs893441125	409	L>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA384778831 rs1213048503	412	V>M		No	ClinGen Ensembl
TCGA novel	413	D>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6560128 rs751198254	417	A>P		No	ClinGen ExAC gnomAD
rs1263391849 CA384778788	418	I>V		No	ClinGen Ensembl
CA6560126 rs757883850	426	L>V		No	ClinGen ExAC gnomAD
COSM694342 rs752168418 CA6560125	427	R>*	lung Variant assessed as Somatic; 0.0 impact. large_intestine breast [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1379024325 CA384778725	427	R>Q		No	ClinGen gnomAD
rs1301237693 CA384778703	430	K>R		No	ClinGen gnomAD
rs1395350837 CA384778695	431	E>D		No	ClinGen gnomAD
CA6560124 rs765673766	431	E>G		No	ClinGen ExAC gnomAD
CA384778690 rs1399149298	432	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs777188698 CA6560122	433	L>I		No	ClinGen ExAC TOPMed gnomAD
CA6560121 rs766717649	433	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1393744684 CA384778663	437	R>C		No	ClinGen TOPMed gnomAD
rs1193565710 CA384778662	437	R>H		No	ClinGen gnomAD
rs1340046219 CA384778657	438	L>F		No	ClinGen gnomAD
CA236721579 rs1033940646	441	A>S		No	ClinGen TOPMed
rs1417537437 CA384778603	445	A>V		No	ClinGen TOPMed
CA384778598 rs1369925385	446	A>G		No	ClinGen Ensembl
TCGA novel	446	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6560103 rs761062906	449	T>A		No	ClinGen ExAC gnomAD
CA6560101 rs554358139	452	D>E		No	ClinGen 1000Genomes ExAC gnomAD
CA6560102 rs750777080	452	D>V		No	ClinGen ExAC gnomAD
rs761948559 CA6560100	455	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1457636953 CA384778516	456	A>G		No	ClinGen TOPMed
CA384778501 rs1168971958	458	M>I		No	ClinGen gnomAD
rs774784118 CA6560099	458	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1418190996 CA384778484	461	A>T		No	ClinGen gnomAD
CA6560098 rs768847964	461	A>V		No	ClinGen ExAC gnomAD
CA384778453 rs1186941960	466	P>A		No	ClinGen gnomAD
CA384778450 rs1483462036	466	P>R		No	ClinGen gnomAD
CA384778446 rs1239061104	467	Q>*		No	ClinGen gnomAD
CA6560096 rs776666448	467	Q>H		No	ClinGen ExAC
rs1202392242 CA384778439	468	A>S		No	ClinGen gnomAD
rs770793317 CA6560094	471	D>N		No	ClinGen ExAC gnomAD
CA6560092 rs777432882	472	T>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	473	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778585223 CA6560089	474	A>V		No	ClinGen ExAC gnomAD
rs753379878 CA6560088	476	L>I		No	ClinGen ExAC TOPMed gnomAD
rs753379878 CA6560087	476	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1442082414 CA384778356	480	L>S		No	ClinGen gnomAD
CA6560074 rs760524355	486	S>N		No	ClinGen ExAC TOPMed gnomAD
rs773259385 CA6560073	487	P>L		No	ClinGen ExAC TOPMed gnomAD
CA6560071 rs141625269	494	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1351300765 CA384778222	498	K>R		No	ClinGen gnomAD
rs768320789 CA6560069	504	I>V		No	ClinGen ExAC TOPMed gnomAD
CA6560068 rs748740604	506	A>V		No	ClinGen ExAC gnomAD
TCGA novel	508	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1252479622 CA384778144	510	P>L		No	ClinGen gnomAD
rs758935582 CA236720480	511	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs750885282 CA6560065	517	M>I		No	ClinGen ExAC gnomAD
CA384778088 rs1276712121	519	Q>E		No	ClinGen gnomAD
CA384778068 rs751990425	521	I>M		No	ClinGen ExAC TOPMed gnomAD
rs757518799 CA6560063	521	I>V		No	ClinGen ExAC gnomAD
CA6560061 rs764350406	522	K>N		No	ClinGen ExAC gnomAD
CA236720447 rs929647784	523	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs554689022 CA6560060 COSM1705575	523	R>H	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1286772484 CA384778050	524	Q>H		No	ClinGen gnomAD
rs753032764 CA6560059	525	P>R		No	ClinGen ExAC gnomAD
TCGA novel	526	K>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	529	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372370902 CA6560032	530	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs144941231 CA6560031	530	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144941231 CA384778000	530	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs548313977 CA6560030	533	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA6560029 rs774979476	536	L>V		No	ClinGen ExAC gnomAD
rs936346714 CA236720254	537	E>V		No	ClinGen Ensembl
CA384777939 rs1249093692	540	S>N		No	ClinGen gnomAD
CA6560027 CA384777928 rs745311071	541	Q>H		No	ClinGen ExAC gnomAD
CA6560026 rs776206154	543	M>V		No	ClinGen ExAC gnomAD
CA384777903 rs1231151385 CA384777905	544	M>I		No	ClinGen gnomAD
CA384777910 rs1218190754	544	M>V		No	ClinGen TOPMed
rs1592126687 CA384777884	547	Q>R		No	ClinGen Ensembl
rs1339688743 CA384777880	548	E>K		No	ClinGen gnomAD
CA236720205 rs149906700	551	D>E		No	ClinGen ESP TOPMed gnomAD
CA6560024 rs200477096	551	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs778472178 CA6560023	552	P>T		No	ClinGen ExAC gnomAD
rs949139595 CA236720204	553	L>I		No	ClinGen TOPMed
CA236720201 rs917742615	553	L>Q		No	ClinGen Ensembl
rs1402658167 CA384777839	554	H>R		No	ClinGen gnomAD
TCGA novel	555	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1475064111 CA384777824	556	I>M		No	ClinGen gnomAD
CA236720191 rs896295608	556	I>T		No	ClinGen TOPMed gnomAD
CA6560020 rs149087893	559	S>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1417824421 CA384777798	560	N>T		No	ClinGen gnomAD
rs937837581 CA236720180	561	A>T		No	ClinGen Ensembl
CA6560019 rs755241888	563	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6560018 rs144451602	564	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6560017 rs780105877	564	T>I		No	ClinGen ExAC gnomAD
CA236720174 rs909172915	568	P>S		No	ClinGen TOPMed
CA384777752 rs909172915	568	P>T		No	ClinGen TOPMed
rs756247717 CA6560016	570	I>T		No	ClinGen ExAC gnomAD
rs1381845234 CA384777738	570	I>V		No	ClinGen TOPMed
CA6560015 rs751479798	571	K>E		No	ClinGen ExAC gnomAD
rs371153920 CA6560004	575	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs140590023 CA6560001	583	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA384777643 rs1211354751	583	H>Y		No	ClinGen gnomAD
CA236716012 rs918532119	584	Q>H		No	ClinGen Ensembl
rs1285174208 CA384777609	588	T>S		No	ClinGen gnomAD
rs1240819905 CA384777593	591	S>P		No	ClinGen TOPMed gnomAD
rs780291148 CA6559998	598	V>I		No	ClinGen ExAC gnomAD
rs780122994 CA6559997 COSM1705574	599	R>C	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs374374601 CA6559996	599	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA6559994 rs758372712	603	T>I		No	ClinGen ExAC TOPMed gnomAD
rs758372712 CA384777516	603	T>S		No	ClinGen ExAC TOPMed gnomAD
CA6559992 rs765079337	606	T>S		No	ClinGen ExAC TOPMed gnomAD
CA6559990 rs371245284	607	P>R		No	ClinGen ESP ExAC gnomAD
rs1170283409 CA384777487	608	R>K		No	ClinGen gnomAD
CA236715706 rs919220407	611	S>N		No	ClinGen TOPMed gnomAD
rs1240731897 CA384777438 COSM940272	613	S>N	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA6559974 rs781239684	613	S>R		No	ClinGen ExAC gnomAD
rs757349922 CA6559973	615	S>F		No	ClinGen ExAC gnomAD
CA6559972 rs748090108	617	T>A		No	ClinGen ExAC gnomAD
CA236715698 rs546861890	617	T>S		No	ClinGen 1000Genomes gnomAD
rs778767415 CA6559971	619	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1422563597 CA384777395	620	G>A		No	ClinGen TOPMed gnomAD
rs1422563597 CA384777396	620	G>E		No	ClinGen TOPMed gnomAD
CA6559970 rs754754375	621	R>*		No	ClinGen ExAC TOPMed gnomAD
CA6559969 rs189411338	621	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766063027 CA6559968	622	Q>H		No	ClinGen ExAC gnomAD
rs1407328725 CA384777383	623	G>S		No	ClinGen TOPMed
CA6559967 rs755844955	626	F>L		No	ClinGen ExAC gnomAD
TCGA novel	627	A>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6559965 rs761267669	630	M>K		No	ClinGen ExAC TOPMed gnomAD
CA6559964 rs761267669	630	M>T		No	ClinGen ExAC TOPMed gnomAD
CA6559966 rs767109770	630	M>V		No	ClinGen ExAC TOPMed gnomAD
CA236715644 rs201996855	631	L>R		No	ClinGen Ensembl

1 associated diseases with Q9H0H5

[MIM: 619789]: Anemia, congenital dyserythropoietic, 3B, autosomal recessive (CDAN3B)

An autosomal recessive blood disorder characterized by marked dyserythropoiesis, hemolytic anemia, macrocytosis in the peripheral blood, and giant multinucleated erythroblasts in the bone marrow. {ECO:0000269|PubMed:34818416}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal recessive blood disorder characterized by marked dyserythropoiesis, hemolytic anemia, macrocytosis in the peripheral blood, and giant multinucleated erythroblasts in the bone marrow. {ECO:0000269|PubMed:34818416}. Note=The disease is caused by variants affecting the gene represented in this entry.

2 regional properties for Q9H0H5

Type	Name	Position	InterPro Accession
domain	Rho GTPase-activating protein domain	349 - 539	IPR000198
domain	Protein kinase C-like, phorbol ester/diacylglycerol-binding domain	286 - 336	IPR002219

Functions

		Description
EC Number
Subcellular Localization	Nucleus Cytoplasm Cytoplasm, cytoskeleton, spindle Cytoplasmic vesicle, secretory vesicle, acrosome Cleavage furrow Midbody, Midbody ring Cell membrane; Peripheral membrane protein; Cytoplasmic side	Colocalizes with RND2 in Golgi-derived proacrosomal vesicles and the acrosome (By similarity) During interphase, localized to the nucleus and cytoplasm along with microtubules, in anaphase, is redistributed to the central spindle and, in telophase and cytokinesis, to the midbody ring, also called Flemming body Colocalizes with RHOA at the myosin contractile ring during cytokinesis Colocalizes with ECT2 to the mitotic spindles during anaphase/metaphase, the cleavage furrow during telophase and at the midbody at the end of cytokinesis Colocalizes with Cdc42 to spindle microtubules from prometaphase to telophase
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

14 GO annotations of cellular component

Name	Definition
acrosomal vesicle	A structure in the head of a spermatozoon that contains acid hydrolases, and is concerned with the breakdown of the outer membrane of the ovum during fertilization. It lies just beneath the plasma membrane and is derived from the lysosome.
centralspindlin complex	A heterotetrameric protein complex playing a key role in the formation of the central spindle in mitosis. Made up of two molecules each of a mitotic kinesin (ZEN-4 in Caenorhabditis elegans or MKLP1 in mammals) and of two molecules each of a GTPase activating protein (GAP) factor (CYK-4 in Caenorhabditis elegans or MgcRacGAP in mammals).
cleavage furrow	The cleavage furrow is a plasma membrane invagination at the cell division site. The cleavage furrow begins as a shallow groove and eventually deepens to divide the cytoplasm.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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.
extrinsic component of cytoplasmic side of plasma membrane	The component of a plasma membrane consisting of gene products and protein complexes that are loosely bound to its cytoplasmic surface, but not integrated into the hydrophobic region.
Flemming body	A cell part that is the central region of the midbody characterized by a gap in alpha-tubulin staining. It is a dense structure of antiparallel microtubules from the central spindle in the middle of the intercellular bridge.
microtubule	Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle.
midbody	A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis.
mitotic spindle	A spindle that forms as part of mitosis. Mitotic and meiotic spindles contain distinctive complements of proteins associated with microtubules.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
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.
spindle	The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart.
spindle midzone	The area in the center of the spindle where the spindle microtubules from opposite poles overlap.

8 GO annotations of molecular function

Name	Definition
alpha-tubulin binding	Binding to the microtubule constituent protein alpha-tubulin.
beta-tubulin binding	Binding to the microtubule constituent protein beta-tubulin.
gamma-tubulin binding	Binding to the microtubule constituent protein gamma-tubulin.
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.
microtubule binding	Binding to a microtubule, a filament composed of tubulin monomers.
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.
protein kinase binding	Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.

11 GO annotations of biological process

Name	Definition
actomyosin contractile ring assembly	The process of assembly of a ring composed of actin, myosin, and associated proteins that will function in cytokinesis.
mitotic cytokinesis	A cell cycle process that results in the division of the cytoplasm of a cell after mitosis, resulting in the separation of the original cell into two daughter cells.
mitotic spindle midzone assembly	The cell cycle process in which the aggregation, arrangement and bonding together of a set of components forms the spindle midzone.
neuroblast proliferation	The expansion of a neuroblast population by cell division. A neuroblast is any cell that will divide and give rise to a neuron.
positive regulation of cytokinesis	Any process that activates or increases the frequency, rate or extent of the division of the cytoplasm of a cell, and its separation into two daughter cells.
regulation of attachment of spindle microtubules to kinetochore	Any process that modulates the frequency, rate or extent of the attachment of spindle microtubules to the kinetochore.
regulation of embryonic development	Any process that modulates the frequency, rate or extent of embryonic development.
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.
spermatogenesis	The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa.
sulfate transport	The directed movement of sulfate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9WVM1	Racgap1	Rac GTPase-activating protein 1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MDTMMLNVRN	LFEQLVRRVE	ILSEGNEVQF	IQLAKDFEDF	RKKWQRTDHE	LGKYKDLLMK
70	80	90	100	110	120
AETERSALDV	KLKHARNQVD	VEIKRRQRAE	ADCEKLERQI	QLIREMLMCD	TSGSIQLSEE
130	140	150	160	170	180
QKSALAFLNR	GQPSSSNAGN	KRLSTIDESG	SILSDISFDK	TDESLDWDSS	LVKTFKLKKR
190	200	210	220	230	240
EKRRSTSRQF	VDGPPGPVKK	TRSIGSAVDQ	GNESIVAKTT	VTVPNDGGPI	EAVSTIETVP
250	260	270	280	290	300
YWTRSRRKTG	TLQPWNSDST	LNSRQLEPRT	ETDSVGTPQS	NGGMRLHDFV	SKTVIKPESC
310	320	330	340	350	360
VPCGKRIKFG	KLSLKCRDCR	VVSHPECRDR	CPLPCIPTLI	GTPVKIGEGM	LADFVSQTSP
370	380	390	400	410	420
MIPSIVVHCV	NEIEQRGLTE	TGLYRISGCD	RTVKELKEKF	LRVKTVPLLS	KVDDIHAICS
430	440	450	460	470	480
LLKDFLRNLK	EPLLTFRLNR	AFMEAAEITD	EDNSIAAMYQ	AVGELPQANR	DTLAFLMIHL
490	500	510	520	530	540
QRVAQSPHTK	MDVANLAKVF	GPTIVAHAVP	NPDPVTMLQD	IKRQPKVVER	LLSLPLEYWS
550	560	570	580	590	600
QFMMVEQENI	DPLHVIENSN	AFSTPQTPDI	KVSLLGPVTT	PEHQLLKTPS	SSSLSQRVRS
610	620	630
TLTKNTPRFG	SKSKSATNLG	RQGNFFASPM	LK