AiPD: Autoinhibited Protein Database

Q5JSH3

Gene name	WDR44 (RPH11)
Protein name	WD repeat-containing protein 44
Names	Rabphilin-11
Species	Homo sapiens (Human)
KEGG Pathway	hsa:54521
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

230-301 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

230-301 (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 Q5JSH3

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q5JSH3-F1	Predicted				AlphaFoldDB

344 variants for Q5JSH3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1396350175 CA414350460	5	S>R		No	ClinGen gnomAD
TCGA novel	6	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	10	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10498129 rs773097739	11	Y>C		No	ClinGen ExAC gnomAD
CA10498130 rs199580855	13	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs140525614 CA334902716	14	P>R		No	ClinGen ESP
rs1321947190 CA414350536	16	D>V		No	ClinGen gnomAD
CA10498131 rs771040885	18	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA10498133 rs762807889	20	G>R		No	ClinGen ExAC gnomAD
CA10498136 rs766875912	21	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1421218158 CA414350565	21	G>S		No	ClinGen TOPMed
CA10498137 rs767206778	24	P>A		No	ClinGen ExAC TOPMed gnomAD
rs187698818 CA414350588	25	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs187698818 CA10498138	25	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	27	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761901843 CA10498154	30	K>E		No	ClinGen ExAC gnomAD
CA414353072 rs1274687438	32	G>R		No	ClinGen gnomAD
CA414353092 rs1207605930	35	T>A		No	ClinGen gnomAD
CA10498155 rs771882824	35	T>I		No	ClinGen ExAC gnomAD
rs772821048 CA10498156	36	F>C		No	ClinGen ExAC gnomAD
CA414353380 rs1384700442	42	T>A		No	ClinGen gnomAD
CA10498196 rs749474426	43	A>T		No	ClinGen ExAC gnomAD
rs777555221 CA10498198	44	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA10498197 rs758140909	44	Y>H		No	ClinGen ExAC
rs1273134607 CA414353401	45	K>R		No	ClinGen gnomAD
rs746985534 CA10498199	46	V>I		No	ClinGen ExAC gnomAD
CA10498200 rs770887876	48	N>S		No	ClinGen ExAC gnomAD
CA414353439 rs1487194267	51	P>S		No	ClinGen TOPMed
rs1264369850 CA414353453	53	Q>R		No	ClinGen TOPMed
CA414353466 rs1268241232	55	L>V		No	ClinGen gnomAD
CA10498218 rs757178885	66	S>I		No	ClinGen ExAC gnomAD
rs745754847 CA10498220	69	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA10498221 rs141485861	69	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA414353694 rs1418174125	71	S>G		No	ClinGen gnomAD
rs1462673566 CA414353713	72	Q>R		No	ClinGen gnomAD
rs1368490688 CA414353735	74	V>I		No	ClinGen TOPMed
CA414353791 rs1458566475	78	E>D		No	ClinGen gnomAD
CA10498222 rs779537868	78	E>K		No	ClinGen ExAC gnomAD
rs1387278258 CA414353825	81	S>F		No	ClinGen gnomAD
rs748955725 CA10498223	81	S>T		No	ClinGen ExAC
CA10498224 rs768336272	82	L>W		No	ClinGen ExAC gnomAD
CA414353869 rs1167815349	84	S>C		No	ClinGen TOPMed
rs866586082 CA334906167	86	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	88	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414353922 rs1449988103	89	L>F		No	ClinGen TOPMed
rs774619720 CA10498225	91	D>H		No	ClinGen ExAC gnomAD
CA334906168 rs567760627	92	Q>R		No	ClinGen Ensembl
CA414353998 rs1320986061	96	S>N		No	ClinGen gnomAD
rs762270461 CA10498226	98	I>F		No	ClinGen ExAC gnomAD
rs762270461 CA10498227	98	I>V		No	ClinGen ExAC gnomAD
CA414354033 rs1294264947	99	V>A		No	ClinGen gnomAD
rs1337293627 CA414354035	100	A>T		No	ClinGen gnomAD
CA10498229 rs202158742	101	R>K		No	ClinGen ExAC gnomAD
rs766631410 CA10498230	102	T>K		No	ClinGen ExAC gnomAD
rs753940089 CA10498232	103	D>H		No	ClinGen ExAC gnomAD
CA10498231 rs753940089	103	D>N		No	ClinGen ExAC gnomAD
TCGA novel	104	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM248322 CA10498234 rs752818626	106	N>S	prostate [Cosmic]	No	ClinGen cosmic curated ExAC
rs1482219271 CA414354108	107	I>L		No	ClinGen gnomAD
CA10498235 rs757063033	108	P>T		No	ClinGen ExAC
TCGA novel	109	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750429631 CA10498237	109	G>R		No	ClinGen ExAC gnomAD
CA10498239 rs150373422	113	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA414354173 rs1201259367	113	I>T		No	ClinGen TOPMed
CA414354183 rs1400807730	114	D>G		No	ClinGen gnomAD
rs748805428 CA10498240	114	D>N		No	ClinGen ExAC gnomAD
CA414354192 rs1227265568	115	Q>E		No	ClinGen gnomAD
CA10498241 rs768011626	116	V>I		No	ClinGen ExAC TOPMed gnomAD
CA334906169 rs975266031	118	P>L		No	ClinGen TOPMed gnomAD
rs747700108 CA10498243	118	P>S		No	ClinGen ExAC TOPMed
CA10498245 rs773704871	119	E>Q		No	ClinGen ExAC gnomAD
TCGA novel	121	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	125	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414354305 rs1330775708	125	E>G		No	ClinGen TOPMed gnomAD
rs761321691 CA10498246	126	S>C		No	ClinGen ExAC TOPMed gnomAD
rs771542506 CA10498247	132	E>D		No	ClinGen ExAC gnomAD
CA10498248 rs776610227	133	T>S		No	ClinGen ExAC TOPMed
TCGA novel	134	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759689777 CA10498249	135	L>S		No	ClinGen ExAC gnomAD
rs921064575 CA334906170	136	E>K		No	ClinGen Ensembl
rs752974525 CA10498251	137	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA414354519 rs1280881386	142	P>L		No	ClinGen gnomAD
rs763160154 CA10498252	142	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA334906171 rs767361495	143	S>A		No	ClinGen ExAC TOPMed gnomAD
CA414354520 rs767361495	143	S>P		No	ClinGen ExAC TOPMed gnomAD
CA10498253 rs767361495	143	S>T		No	ClinGen ExAC TOPMed gnomAD
CA414354560 rs1569367428	147	C>G		No	ClinGen Ensembl
TCGA novel	148	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10498255 rs756089435	148	E>G		No	ClinGen ExAC gnomAD
CA414354598 rs1367969075	152	D>G		No	ClinGen TOPMed
rs1456405626 CA414354593	152	D>N		No	ClinGen TOPMed
rs149132357 CA10498257	155	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA414354625 rs1413340278	156	K>R		No	ClinGen gnomAD
rs370326081 CA10498259	167	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA334906172 rs776230363	171	T>I		No	ClinGen Ensembl
CA10498260 rs747874632	172	E>A		No	ClinGen ExAC gnomAD
CA10498262 rs778329364	175	V>A		No	ClinGen ExAC TOPMed gnomAD
rs373487766 CA10498263	180	A>T		No	ClinGen ESP ExAC TOPMed
CA414354875 rs1265512056	181	V>A		No	ClinGen TOPMed
CA10498265 rs777214543	183	V>I		No	ClinGen ExAC TOPMed gnomAD
CA414354907 rs1409947705	184	K>R		No	ClinGen gnomAD
CA414354924 rs1235044498	186	G>R		No	ClinGen gnomAD
CA414354923 rs1235044498	186	G>S		No	ClinGen gnomAD
rs746300561 CA10498266	188	D>V		No	ClinGen ExAC gnomAD
CA10498267 rs769919250	189	V>I		No	ClinGen ExAC gnomAD
TCGA novel	190	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414355009 rs1569367523	194	S>T		No	ClinGen Ensembl
rs1160168210 CA414355034	196	D>Y		No	ClinGen TOPMed gnomAD
CA10498272 rs764273995	198	L>S		No	ClinGen ExAC gnomAD
CA334906173 rs904597472	198	L>V		No	ClinGen gnomAD
rs758916588 CA334906174	200	T>A		No	ClinGen Ensembl
CA414355079 rs1193668900	200	T>S		No	ClinGen gnomAD
CA10498273 rs764990008	202	D>A		No	ClinGen ExAC TOPMed gnomAD
rs753819771 COSM73279 CA10498276	205	A>T	ovary Variant assessed as Somatic; 0.0 impact. breast [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA414355151 rs1602914226	207	E>K		No	ClinGen Ensembl
CA414355166 rs1295163832	208	E>K		No	ClinGen TOPMed gnomAD
CA10498278 rs764858264	209	V>G		No	ClinGen ExAC TOPMed gnomAD
CA334906175 rs894626185	209	V>M		No	ClinGen TOPMed
rs1321848190 CA414355194	210	A>V		No	ClinGen gnomAD
CA10498280 rs758164953	211	P>S		No	ClinGen ExAC TOPMed gnomAD
CA414355225 rs1305632877	213	K>R		No	ClinGen gnomAD
TCGA novel	215	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	216	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414355284 rs1473092507	218	L>H		No	ClinGen TOPMed
rs1339845282 CA414355355	224	I>T		No	ClinGen gnomAD
rs370691061 CA10498284	224	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs746447068 CA10498287	227	S>N		No	ClinGen ExAC gnomAD
rs770182290 CA10498288	227	S>R		No	ClinGen ExAC
CA10498289 rs775590348	228	T>K		No	ClinGen ExAC gnomAD
TCGA novel	230	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1254319200 CA414355424	231	P>T		No	ClinGen gnomAD
rs866057234 CA334906176	232	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs774569935 CA10498292	237	P>L		No	ClinGen ExAC gnomAD
rs761957838 CA10498293	238	P>L		No	ClinGen ExAC gnomAD
CA10498294 rs766265137	239	P>A		No	ClinGen ExAC gnomAD
rs1267694931 CA414355515	241	N>D		No	ClinGen gnomAD
TCGA novel	245	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs556748546 CA334906177	245	P>S		No	ClinGen Ensembl
TCGA novel	247	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	252	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414355649 rs1268711042	252	R>Q		No	ClinGen TOPMed
CA414355677 rs1214965973	255	P>S		No	ClinGen TOPMed
CA10498296 rs759565376	257	P>R		No	ClinGen ExAC gnomAD
CA334906178 rs1055037015	258	R>G		No	ClinGen TOPMed
COSM1113620 rs765052616 CA10498297	263	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	267	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752642157 CA10498298	267	E>K		No	ClinGen ExAC gnomAD
TCGA novel	273	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763636506 CA10498300	274	I>T		No	ClinGen ExAC TOPMed gnomAD
rs763762920 CA10498324	277	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs775259221 CA10498325	278	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs767107741 CA10498327	283	S>T		No	ClinGen ExAC gnomAD
CA10498329 rs756453546	284	D>G		No	ClinGen ExAC gnomAD
rs139405235 CA10498328	284	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1199245745 CA414356061	285	S>Y		No	ClinGen TOPMed gnomAD
CA334906245 rs915994207	287	L>P		No	ClinGen Ensembl
CA414356077 rs1486214725	288	T>N		No	ClinGen gnomAD
rs17271416 CA10498332 VAR_029538	289	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1602916497 CA414356093	291	M>V		No	ClinGen Ensembl
VAR_029539 CA334906246 rs17855531	296	T>A		No	ClinGen UniProt Ensembl dbSNP
rs779010583 CA10498333	296	T>M		No	ClinGen ExAC TOPMed gnomAD
rs772147191 CA10498335	297	V>A		No	ClinGen ExAC gnomAD
rs868694745 CA334906247	299	D>N		No	ClinGen gnomAD
TCGA novel	313	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414356364 rs1374724231	315	I>T		No	ClinGen gnomAD
rs769714890 CA10498338	318	A>T		No	ClinGen ExAC TOPMed gnomAD
rs750053318 CA10498345	320	E>D		No	ClinGen ExAC gnomAD
CA414356570 rs887709737	324	A>S		No	ClinGen TOPMed gnomAD
CA334906326 rs887709737	324	A>T		No	ClinGen TOPMed gnomAD
CA414356590 rs1193046244	325	P>L		No	ClinGen gnomAD
rs1394449617 CA414356629	328	Q>R		No	ClinGen gnomAD
CA334906327 rs1015559175	329	T>A		No	ClinGen Ensembl
CA10498346 rs760374300	330	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1175349573 CA414356690	333	E>K		No	ClinGen TOPMed gnomAD
rs1183873795 CA414356755	336	G>S		No	ClinGen gnomAD
rs754181976 CA10498348	337	P>L		No	ClinGen ExAC gnomAD
rs1298413172 CA414356886	342	S>C		No	ClinGen gnomAD
CA10498350 rs765761577	343	N>S		No	ClinGen ExAC gnomAD
rs1475376687 CA414356914	344	S>P		No	ClinGen TOPMed
rs371338318 CA10498351	348	L>V		No	ClinGen ESP ExAC
rs1467251032 CA414357241	356	S>R		No	ClinGen gnomAD
rs1394584522 CA414357251	356	S>T		No	ClinGen gnomAD
rs1337024304 CA414357261	357	V>I		No	ClinGen TOPMed gnomAD
CA414357353 rs1602920820 RCV000851306	362	L>P		No	ClinGen ClinVar Ensembl dbSNP
CA414357383 rs1383933731	364	T>N		No	ClinGen gnomAD
rs1016447030 CA334906445	378	P>L		No	ClinGen TOPMed
CA414357660 rs1333043009	379	T>I		No	ClinGen gnomAD
rs753149445 CA10498376	380	G>A		No	ClinGen ExAC gnomAD
TCGA novel	383	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1337065310 CA414357763	385	T>S		No	ClinGen gnomAD
TCGA novel	393	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10498379 rs751634252	395	Y>C		No	ClinGen ExAC gnomAD
CA334906536 rs5910348	397	S>R		No	ClinGen Ensembl
CA10498393 COSM202060 rs149448936	400	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA10498394 rs763417168	400	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10498396 rs752065653	412	Q>H		No	ClinGen ExAC gnomAD
CA10498397 rs758840789	413	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	425	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201848504 CA10498408	426	T>S		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	431	F>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	432	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10498409 rs745577218	437	K>T		No	ClinGen ExAC gnomAD
rs201543643 CA334906940	443	A>D		No	ClinGen 1000Genomes
TCGA novel	445	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1355295370 CA414360398	449	R>H		No	ClinGen gnomAD
CA414360571 rs775756619	459	D>E		No	ClinGen ExAC TOPMed gnomAD
CA10498430 rs779772268	464	T>A		No	ClinGen ExAC gnomAD
rs1467002083 CA414361700	465	D>V		No	ClinGen gnomAD
CA10498431 rs748825272	490	G>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	494	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM754490 CA414362591 rs1326631223 CA414362589	499	Q>H	Variant assessed as Somatic; impact. lung [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs143958905 CA10498432	501	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	515	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10498440 rs771366504	517	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA10498441 rs140354850 COSM3747270	524	R>Q	liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA414363648 rs1447415858	526	L>F		No	ClinGen gnomAD
TCGA novel	532	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414363761 rs1398170516	533	N>D		No	ClinGen TOPMed
CA414363811 rs1164957901	535	V>L		No	ClinGen gnomAD
TCGA novel	542	N>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1465124 rs763934302 CA10498442	543	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs751332749 CA10498443	544	F>Y		No	ClinGen ExAC TOPMed gnomAD
CA10498444 rs757224352	546	Y>C		No	ClinGen ExAC gnomAD
CA10498445 rs767472097	548	N>S		No	ClinGen ExAC gnomAD
rs1368860901 CA414364052	549	N>Y		No	ClinGen TOPMed
rs750271651 CA10498446	551	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA414364148 rs1291787650	554	Y>F		No	ClinGen gnomAD
CA10498465 rs765967381	559	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	559	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs897017616 CA334907419	566	Q>*		No	ClinGen Ensembl
CA334907420 rs907992982	567	E>G		No	ClinGen Ensembl
rs1485834507 CA414365215	568	S>G		No	ClinGen gnomAD
CA414365233 rs1217972132	570	S>N		No	ClinGen TOPMed
CA414365412 rs1248212520	578	T>R		No	ClinGen gnomAD
rs1182477305 CA414365428	579	G>A		No	ClinGen gnomAD
rs771318894 CA10498473	580	V>E		No	ClinGen ExAC TOPMed gnomAD
CA10498472 rs747605797	580	V>I		No	ClinGen ExAC TOPMed gnomAD
CA414350624 rs1199510827	582	S>G		No	ClinGen gnomAD
rs1302133350 CA414350633	583	G>E		No	ClinGen gnomAD
CA334909182 rs918276078	584	T>I		No	ClinGen Ensembl
CA334909183 rs952486201	585	D>E		No	ClinGen TOPMed gnomAD
rs967907151 CA334909184	587	D>N		No	ClinGen TOPMed gnomAD
rs967907151 CA414350657	587	D>Y		No	ClinGen TOPMed gnomAD
rs769814047 CA10498476	588	P>L		No	ClinGen ExAC gnomAD
CA10498478 rs763160039	593	A>T		No	ClinGen ExAC TOPMed gnomAD
CA10498480 COSM1113636 rs772861179	596	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA10498479 COSM3843309 rs771913074	596	R>W	breast [Cosmic]	No	ClinGen cosmic curated ExAC
CA414350726 rs1286630679	597	Q>R		No	ClinGen TOPMed
rs1252500084 CA414350731	598	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA10498481 rs760711757	598	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs753763273 CA10498483	602	K>N		No	ClinGen ExAC TOPMed gnomAD
CA414350759 rs1322280795	602	K>T		No	ClinGen TOPMed
CA414350829 rs1461804815	612	D>G		No	ClinGen gnomAD
CA229173 RCV000087235 rs483352750	613	L>F		No	ClinGen ClinVar Ensembl dbSNP
rs1217664662 CA414350904	621	L>V		No	ClinGen gnomAD
TCGA novel	627	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781618243 CA10498510	628	K>R		No	ClinGen ExAC gnomAD
TCGA novel	630	V>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414351015 rs1365055130	637	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1474439310 CA414351043	641	L>F		No	ClinGen gnomAD
rs750988239 CA334909449	647	I>K		No	ClinGen ExAC gnomAD
rs750988239 CA10498511	647	I>T		No	ClinGen ExAC gnomAD
CA414351088 rs1569384709	647	I>V		No	ClinGen Ensembl
rs1173449644 CA414351123	652	A>V		No	ClinGen TOPMed
CA10498512 rs147833933	654	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1156283787 CA414351137	654	A>V		No	ClinGen gnomAD
TCGA novel	664	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	668	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763600773 CA10498525	671	K>R		No	ClinGen ExAC gnomAD
rs914187798 CA334909803	672	L>F		No	ClinGen Ensembl
CA414351278 rs1223630414 COSM1465128	673	R>C	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA414351321 rs1360716391	679	D>A		No	ClinGen gnomAD
TCGA novel	681	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758728740	682	V>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA414351421 rs1376168321	693	K>E		No	ClinGen gnomAD
TCGA novel	702	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414351521 rs1490943414	706	Y>*		No	ClinGen TOPMed
TCGA novel	706	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	708	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	711	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	715	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10498529 rs779239726	716	C>R		No	ClinGen 1000Genomes ExAC gnomAD
CA414351727 rs1470684277	734	S>P		No	ClinGen TOPMed gnomAD
TCGA novel	738	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA334909850 rs762363490	740	K>R		No	ClinGen Ensembl
rs1368907226 CA414351773	741	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	743	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10498540 rs781170620	755	N>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	756	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1388591868 CA414351898	757	I>M		No	ClinGen gnomAD
CA10498549 rs772805374	758	L>M		No	ClinGen ExAC gnomAD
CA414351945 rs1351815456	765	R>G		No	ClinGen gnomAD
TCGA novel	765	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10498554 rs765277341	778	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1602980578 CA414352089	785	N>S		No	ClinGen Ensembl
TCGA novel	788	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	789	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10498564 rs768607813	796	H>R		No	ClinGen ExAC gnomAD
COSM1113646 rs761828789 CA10498565	802	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs771516280 CA10498567	807	D>N		No	ClinGen ExAC gnomAD
rs1355489943 CA414352277	809	Y>C		No	ClinGen gnomAD
rs1255267516 CA414352296	812	I>V		No	ClinGen TOPMed gnomAD
CA414352308 rs1442894786	813	W>*		No	ClinGen gnomAD
CA414352314 rs1273187566	814	S>N		No	ClinGen gnomAD
TCGA novel	815	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	824	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	827	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414352439 rs1239227456	831	D>E		No	ClinGen gnomAD
TCGA novel	832	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1437911201 CA414352488 COSM1113650	838	A>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA414352516 rs1427821125	840	N>S		No	ClinGen gnomAD
CA334909983 rs781387991	843	V>I		No	ClinGen gnomAD
TCGA novel	844	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414352557 rs1309740864	847	I>V		No	ClinGen TOPMed
rs915467898 CA334909984	848	F>C		No	ClinGen TOPMed gnomAD
TCGA novel	851	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373702506 CA10498580	855	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1197054134 CA414352614	855	M>T		No	ClinGen gnomAD
rs1164092103 CA414352611	855	M>V		No	ClinGen TOPMed
rs754681714 CA10498582	860	V>A		No	ClinGen ExAC gnomAD
rs1009343086 CA334909986	861	Q>K		No	ClinGen Ensembl
CA10498583 rs778925774	863	E>A		No	ClinGen ExAC gnomAD
TCGA novel	865	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1490393 CA10498585 rs778556090	869	E>K	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1378506093 CA414352715	870	K>E		No	ClinGen gnomAD
rs201565837 CA10498586	872	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA10498587 rs746709223	874	A>G		No	ClinGen ExAC gnomAD
CA414352750 rs1414098770	875	E>K		No	ClinGen TOPMed gnomAD
CA414352762 rs1331397024	876	V>A		No	ClinGen gnomAD
TCGA novel	877	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10498589 rs776106105	878	D>G		No	ClinGen ExAC TOPMed gnomAD
CA414352771 rs1332485915	878	D>N		No	ClinGen gnomAD
TCGA novel	883	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414352831 rs1329351894	885	M>T		No	ClinGen gnomAD
CA414352851 rs1412365358	888	D>H		No	ClinGen TOPMed
TCGA novel	894	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	898	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	905	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10498618 rs749853141	907	N>S		No	ClinGen ExAC gnomAD
rs769318221 CA10498619	908	K>E		No	ClinGen ExAC TOPMed gnomAD
COSM1113653 rs1602988853 CA414352997	909	R>I	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
rs760556971	911	N>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA10498621 rs774951601	912	V>G		No	ClinGen ExAC gnomAD
rs1326232719 CA414353017	912	V>L		No	ClinGen gnomAD

No associated diseases with Q5JSH3

9 regional properties for Q5JSH3

Type	Name	Position	InterPro Accession
repeat	WD40 repeat	499 - 542	IPR001680-1
repeat	WD40 repeat	596 - 636	IPR001680-2
repeat	WD40 repeat	637 - 677	IPR001680-3
repeat	WD40 repeat	678 - 720	IPR001680-4
repeat	WD40 repeat	728 - 770	IPR001680-5
repeat	WD40 repeat	773 - 814	IPR001680-6
repeat	G-protein beta WD-40 repeat	526 - 540	IPR020472-1
repeat	G-protein beta WD-40 repeat	621 - 635	IPR020472-2
repeat	G-protein beta WD-40 repeat	663 - 677	IPR020472-3

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytosol Cytoplasm, perinuclear region Endosome membrane Golgi apparatus, trans-Golgi network	Colocalized with RAB11A, RAB8A, RAB10 and MICAL1 on endosomal tubules (PubMed:32344433) Colocalized with RAB11A along microtubules oriented toward lamellipodia
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.
endosome membrane	The lipid bilayer surrounding an endosome.
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.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8N157	AHI1	Jouberin	Homo sapiens (Human)	PR

10	20	30	40	50	60
MASESDTEEF	YDAPEDVHLG	GGYPVGSPGK	VGLSTFKETE	NTAYKVGNES	PVQELKQDVS
70	80	90	100	110	120
KKIIESIIEE	SQKVLQLEDD	SLDSKGKELS	DQATASPIVA	RTDLSNIPGL	LAIDQVLPEE
130	140	150	160	170	180
SQKAESQNTF	EETELELKKC	FPSDETCEKP	VDETTKLTQT	SSTEQLNVLE	TETEVLNKEA
190	200	210	220	230	240
VEVKGGGDVL	EPVSSDSLST	KDFAAVEEVA	PAKPPRHLTP	EPDIVASTKK	PVPARPPPPT
250	260	270	280	290	300
NFPPPRPPPP	SRPAPPPRKR	KSELEFETLK	TPDIDVPKEN	ITSDSLLTAS	MASESTVKDS
310	320	330	340	350	360
QPSLDLASAT	SGDKIVTAQE	NGKAPDGQTV	AGEVMGPQRP	RSNSGRELTD	EEILASVMIK
370	380	390	400	410	420
NLDTGEEIPL	SLAEEKLPTG	INPLTLHIMR	RTKEYVSNDA	AQSDDEEKLQ	SQPTDTDGGR
430	440	450	460	470	480
LKQKTTQLKK	FLGKSVKRAK	HLAEEYGERA	INKVKSVRDE	VFHTDQDDPS	SSDDEGMPYT
490	500	510	520	530	540
RPVKFKAAHG	FKGPYDFDQI	KVVQDLSGEH	MGAVWTMKFS	HCGRLLASAG	QDNVVRIWAL
550	560	570	580	590	600
KNAFDYFNNM	RMKYNTEGRV	SPSPSQESLS	SSKSDTDTGV	CSGTDEDPDD	KNAPFRQRPF
610	620	630	640	650	660
CKYKGHTADL	LDLSWSKNYF	LLSSSMDKTV	RLWHISRREC	LCCFQHIDFV	TAIAFHPRDD
670	680	690	700	710	720
RYFLSGSLDG	KLRLWNIPDK	KVALWNEVDG	QTKLITAANF	CQNGKYAVIG	TYDGRCIFYD
730	740	750	760	770	780
TEHLKYHTQI	HVRSTRGRNK	VGRKITGIEP	LPGENKILVT	SNDSRIRLYD	LRDLSLSMKY
790	800	810	820	830	840
KGYVNSSSQI	KASFSHDFTY	LVSGSEDKYV	YIWSTYHDLS	KFTSVRRDRN	DFWEGIKAHN
850	860	870	880	890	900
AVVTSAIFAP	NPSLMLSLDV	QSEKSEGNEK	SEDAEVLDAT	PSGIMKTDNT	EVLLSADFTG
910
AIKVFVNKRK	NVS