AiPD: Autoinhibited Protein Database

Q9UHW5

Gene name	GPN3
Protein name	GPN-loop GTPase 3
Names	ATP-binding domain 1 family member C
Species	Homo sapiens (Human)
KEGG Pathway	hsa:51184
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

235-284 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

235-284 (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 Q9UHW5

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9UHW5-F1	Predicted				AlphaFoldDB

206 variants for Q9UHW5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA386687026 rs1382740387	2	P>L		No	ClinGen gnomAD
rs1429325267 CA386687005	4	Y>*		No	ClinGen gnomAD
rs1258567024 CA386687009	4	Y>C		No	ClinGen TOPMed
CA386686995 rs1426131231	5	A>V		No	ClinGen gnomAD
rs11541441 CA243521216	8	V>A		No	ClinGen Ensembl
CA6785346 rs148897377	8	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1163359218 CA386686954	9	M>I		No	ClinGen TOPMed
rs1200994185 CA386686963	9	M>V		No	ClinGen gnomAD
rs778376891 CA6785344	10	G>D		No	ClinGen ExAC TOPMed gnomAD
CA386686947 rs1383859586	10	G>S		No	ClinGen TOPMed
CA6785341 rs777326098	13	G>D		No	ClinGen ExAC gnomAD
rs748907866 CA6785342	13	G>S		No	ClinGen ExAC gnomAD
TCGA novel	14	S>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386686896 rs1340332474	15	G>E		No	ClinGen gnomAD
rs752985909 CA6785339	15	G>R		No	ClinGen ExAC gnomAD
rs577425537	17	S>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA386686560 rs1197631880	19	Y>C		No	ClinGen TOPMed gnomAD
CA243520043 rs910839252	20	C>G		No	ClinGen TOPMed gnomAD
CA6785311 rs562297749	21	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6785309 rs199875960	22	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1388259890 CA386686541	22	T>I		No	ClinGen gnomAD
rs199875960 CA6785310	22	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6785307 rs772593354	24	V>G		No	ClinGen ExAC gnomAD
CA6785308 rs762990749	24	V>I		No	ClinGen ExAC gnomAD
CA243520019 rs950520547	25	Q>R		No	ClinGen TOPMed
COSM691280 COSM691279 CA6785305 rs747700286	27	C>G	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	27	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386686481 rs1469194716	31	N>S		No	ClinGen TOPMed gnomAD
CA6785304 rs780998398	32	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA386686476 rs1249187898	32	R>W		No	ClinGen TOPMed
CA6785303 rs769091440	33	S>Y		No	ClinGen ExAC gnomAD
TCGA novel	36	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6785300 rs758823756	37	V>I		No	ClinGen ExAC gnomAD
CA386686421 rs1592967976	41	P>A		No	ClinGen Ensembl
rs778798303 CA6785298	43	A>T		No	ClinGen ExAC gnomAD
CA386686399 rs1345849162	44	E>D		No	ClinGen gnomAD
rs764325175 CA386686378	47	N>I		No	ClinGen ExAC TOPMed gnomAD
rs764325175 CA6785295	47	N>S		No	ClinGen ExAC TOPMed gnomAD
rs146465651 CA6785292	50	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146465651 CA6785293	50	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	52	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
VAR_035107 rs17856906 CA243519980	52	A>V		No	ClinGen UniProt Ensembl dbSNP
rs1042213493 CA243518035	54	I>F		No	ClinGen Ensembl
CA6785271 rs146439705	54	I>T		No	ClinGen ESP ExAC TOPMed
CA386686231 rs1186363010	55	R>Q		No	ClinGen gnomAD
CA6785270 rs761879805	55	R>W		No	ClinGen ExAC TOPMed gnomAD
rs776276924 CA6785269	57	L>R		No	ClinGen ExAC gnomAD
rs1208040516 CA386686179	59	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6785266 rs775283255	61	D>V		No	ClinGen ExAC gnomAD
rs1252148420 CA386686089	64	M>T		No	ClinGen TOPMed
rs1213840154 CA386686069	65	E>G		No	ClinGen gnomAD
CA6785263 rs774630058	65	E>K		No	ClinGen ExAC gnomAD
CA6785261 rs749863012	67	D>E		No	ClinGen ExAC gnomAD
rs771441947 CA6785262	67	D>N		No	ClinGen ExAC gnomAD
rs1480500753 CA386686022	68	S>A		No	ClinGen TOPMed
rs1203399553 CA386686018	68	S>C		No	ClinGen TOPMed
rs367768675 CA6785260	69	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs367768675 CA386686007	69	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6785259 rs200244421	70	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA6785258 rs748305243	70	R>Q	Variant assessed as Somatic; 9.239e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs755202075 CA6785256	72	G>D		No	ClinGen ExAC gnomAD
TCGA novel	74	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386685950 rs1592963959	74	N>H		No	ClinGen Ensembl
CA386685941 rs1430987701	74	N>S		No	ClinGen TOPMed
CA243517981 rs776107132	75	G>E		No	ClinGen Ensembl
CA6785254 rs778640657	75	G>R		No	ClinGen ExAC gnomAD
CA6785252 rs753836835	78	V>L		No	ClinGen ExAC gnomAD
CA386685888 rs763626311	80	C>F		No	ClinGen ExAC gnomAD
CA6785251 rs763626311	80	C>Y		No	ClinGen ExAC gnomAD
rs752240006 CA386685885	81	M>L		No	ClinGen ExAC gnomAD
rs752240006 CA6785249	81	M>V		No	ClinGen ExAC gnomAD
TCGA novel	82	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6785248 rs372787057	82	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs369313029 CA6785247	83	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA386685862 rs1565843740	84	F>L		No	ClinGen Ensembl
rs774778630 CA6785246	85	A>P		No	ClinGen ExAC gnomAD
CA6785244 rs763393821	86	N>S		No	ClinGen ExAC TOPMed gnomAD
rs748251991 CA6785241	92	E>G		No	ClinGen ExAC gnomAD
CA6785239 rs768916707	93	N>D		No	ClinGen ExAC gnomAD
rs950864532 CA243517931	94	C>Y		No	ClinGen gnomAD
CA386685699 rs1437583039	97	H>R		No	ClinGen gnomAD
rs532145315 CA6785237	101	D>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1030955274 COSM176728 CA243517916	101	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA386685550 rs1250017689	106	D>G		No	ClinGen gnomAD
rs753784426 CA6785235	106	D>N		No	ClinGen ExAC TOPMed gnomAD
CA6785234 rs777872571	107	C>G		No	ClinGen ExAC gnomAD
CA6785219 rs775603312	111	I>T		No	ClinGen ExAC gnomAD
CA6785217 rs749066798	114	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1207902613 CA386685109	115	T>I		No	ClinGen TOPMed
rs1592962541 CA386685125	115	T>P		No	ClinGen Ensembl
CA386685102 rs1566302892	116	H>D		No	ClinGen Ensembl
rs1592962534 CA386685093	116	H>P		No	ClinGen Ensembl
CA6785214 rs373251989 CA6785215	116	H>Q		No	ClinGen ESP ExAC gnomAD
rs1483017046 CA386685054	118	P>R		No	ClinGen TOPMed
CA386685049 rs1425870651	119	V>L		No	ClinGen gnomAD
CA386684970 rs1313516117	122	Q>R		No	ClinGen gnomAD
rs1017957923 CA243517205	124	V>A		No	ClinGen TOPMed gnomAD
rs1434517654 CA386684933	125	Q>P		No	ClinGen TOPMed
rs1280986572 CA386684924	126	Q>*		No	ClinGen gnomAD
rs1223225305 CA386684890	127	L>P		No	ClinGen gnomAD
CA386684878 rs754450751	128	E>K		No	ClinGen ExAC gnomAD
rs754450751 CA6785212	128	E>Q		No	ClinGen ExAC gnomAD
rs751184079 CA6785211	131	E>G		No	ClinGen ExAC gnomAD
rs766044072 CA6785210	133	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs758097273 CA6785209	133	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs144792599 CA6785208	142	S>C		No	ClinGen ESP ExAC gnomAD
rs144792599 CA243517187	142	S>F		No	ClinGen ESP ExAC gnomAD
CA386684676 rs1467663138	142	S>T		No	ClinGen gnomAD
rs144792599 CA386684671	142	S>Y		No	ClinGen ESP ExAC gnomAD
rs765647036 CA6785207	143	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1478295216 CA386684615	146	V>L		No	ClinGen gnomAD
rs1424047005 CA386684583	148	S>T		No	ClinGen gnomAD
CA6785191 rs746480665	152	I>V		No	ClinGen ExAC TOPMed gnomAD
CA386683482 rs1426455838	153	S>Y		No	ClinGen gnomAD
rs143166802 CA6785190	155	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1405667892 CA386683428	157	A>G		No	ClinGen gnomAD
rs1274917555 CA386683318	163	I>F		No	ClinGen TOPMed
rs750088340 CA6785187	163	I>M		No	ClinGen ExAC TOPMed gnomAD
rs758031674 CA6785188	163	I>S		No	ClinGen ExAC gnomAD
rs1274917555 CA386683322	163	I>V		No	ClinGen TOPMed
rs1489983183 CA386683237	167	I>V		No	ClinGen gnomAD
rs201061562 CA243516449	168	P>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA386683202 rs201061562	168	P>Q		No	ClinGen 1000Genomes TOPMed gnomAD
rs764483937 CA6785182	170	V>I		No	ClinGen ExAC gnomAD
rs761281927 CA6785181	171	N>T		No	ClinGen ExAC TOPMed gnomAD
rs1402888960 CA386683130	173	M>V		No	ClinGen TOPMed gnomAD
rs775710292 CA6785180	174	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1406562018 CA386683092	175	K>E		No	ClinGen gnomAD
CA6785178 rs759778295	176	M>I		No	ClinGen ExAC gnomAD
rs1302511548 CA386683056	177	D>N		No	ClinGen TOPMed gnomAD
CA386683052 rs1302511548	177	D>Y		No	ClinGen TOPMed gnomAD
CA386683009 rs1420273929	180	S>N		No	ClinGen gnomAD
rs1386467969 CA386683002	180	S>R		No	ClinGen gnomAD
rs1156364645 CA386682995	181	K>E		No	ClinGen TOPMed gnomAD
CA386682973 rs1469306917	182	K>E		No	ClinGen gnomAD
CA386682941 rs769592922	183	A>E		No	ClinGen ExAC gnomAD
rs769592922 CA6785176	183	A>G		No	ClinGen ExAC gnomAD
CA6785177 rs774724349	183	A>P		No	ClinGen ExAC TOPMed gnomAD
rs774724349 CA386682947	183	A>T		No	ClinGen ExAC TOPMed gnomAD
CA386682937 rs1268748998	184	K>E		No	ClinGen gnomAD
rs1217946729 CA386682924	184	K>N		No	ClinGen gnomAD
CA386682858 rs1592961166	189	K>*		No	ClinGen Ensembl
CA6785154 rs768508415	189	K>N		No	ClinGen ExAC
CA6785152 CA6785153 rs775437038	195	M>I		No	ClinGen ExAC gnomAD
CA386682701 rs1340515539	196	Y>C		No	ClinGen gnomAD
CA6785151 rs368125599 COSM934962 COSM934963	197	S>Y	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs745356800 CA6785150	200	E>D		No	ClinGen ExAC TOPMed gnomAD
CA386682666 rs1449992270	200	E>Q		No	ClinGen TOPMed gnomAD
CA243516301 rs889735212	202	S>P		No	ClinGen Ensembl
CA6785148 rs770482879	203	T>R		No	ClinGen ExAC gnomAD
rs1417945741 CA386682609	204	S>N		No	ClinGen gnomAD
rs1167816348 CA386682603	204	S>R		No	ClinGen gnomAD
rs146491938 CA6785147	206	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs777945368 CA6785146	208	S>R		No	ClinGen ExAC gnomAD
CA6785145 rs756555165	209	K>R		No	ClinGen ExAC gnomAD
CA386682509 rs1202850417	210	K>N		No	ClinGen TOPMed gnomAD
CA386682515 rs1431443472	210	K>R		No	ClinGen TOPMed
rs766995173	211	F>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
COSM200896 rs1337602556 CA386682503	211	F>I	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs374796314 CA243516260	214	L>V		No	ClinGen ESP ExAC gnomAD
rs370660398 CA6785142	215	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1052925874 CA386682413	218	I>L		No	ClinGen TOPMed gnomAD
rs1052925874 CA243516246	218	I>V		No	ClinGen TOPMed gnomAD
CA6785141 rs568124166	219	C>W		No	ClinGen 1000Genomes ExAC gnomAD
rs1360140503 CA386682393	219	C>Y		No	ClinGen gnomAD
CA6785140 rs751661622	220	G>R		No	ClinGen ExAC gnomAD
rs772948978 CA243515520	224	D>N		No	ClinGen ExAC TOPMed gnomAD
CA6785127 rs772948978	224	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA386682113 rs1405950328	225	Y>C		No	ClinGen gnomAD
rs1009944559 CA243515509	227	M>I		No	ClinGen TOPMed
CA243515512 rs900012159	227	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA6785126 rs368568118	229	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6785125 rs748504832	233	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA6785124 rs781720993	234	D>N		No	ClinGen ExAC gnomAD
CA386681899 rs1239378557	235	Q>*		No	ClinGen TOPMed
COSM1947072 rs556729070 COSM1947071 CA6785123	237	D>G	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1176351484 CA386681730	241	M>T		No	ClinGen gnomAD
CA386681758 rs1407532190	241	M>V		No	ClinGen gnomAD
rs889516059 CA243515459	243	I>V		No	ClinGen TOPMed
CA243515458 rs17850320 VAR_035108	244	V>A		No	ClinGen UniProt dbSNP gnomAD
rs541788455 CA6785121	244	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA6785120 rs758532745	247	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA6785119 rs374461155	250	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA6785118 rs765423696	251	A>T		No	ClinGen ExAC
CA6785117 rs371115970	252	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA6785116 rs752484191	254	Y>C		No	ClinGen ExAC gnomAD
CA6785115 rs767355716	255	G>R		No	ClinGen ExAC gnomAD
rs1224458945 CA386681348	261	K>E		No	ClinGen TOPMed gnomAD
rs759413073 CA6785114	263	P>L		No	ClinGen ExAC gnomAD
rs201798540	264	K>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs138166782 CA243515136	266	R>C		No	ClinGen ESP
rs1337538415 CA386681211	267	E>K		No	ClinGen gnomAD
rs757456653 CA6785100	269	E>Q		No	ClinGen ExAC gnomAD
CA386681153 rs1404194689	271	S>P		No	ClinGen gnomAD
rs1398080267 CA386681143	272	S>T		No	ClinGen TOPMed
rs767234920 CA6785098	273	M>K		No	ClinGen ExAC gnomAD
CA386681133 rs367859550	273	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6785099 rs367859550	273	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA386681093 rs1450923291	275	D>G		No	ClinGen TOPMed
rs754833965 CA6785097	275	D>N		No	ClinGen ExAC gnomAD
CA6785095 rs200226170	276	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1260411458 CA386681050	280	E>V		No	ClinGen gnomAD
rs1566300794 CA386681035	282	Q>P		No	ClinGen Ensembl
rs373419093 CA6785094	283	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs376361210 CA243515098	283	D>N		No	ClinGen ESP TOPMed
CA386681016 rs1462325403	285	E>R		No	ClinGen TOPMed gnomAD

No associated diseases with Q9UHW5

1 regional properties for Q9UHW5

Type	Name	Position	InterPro Accession
domain	GPCR, rhodopsin-like, 7TM	34 - 286	IPR017452

Functions

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

1 GO annotations of cellular component

Name	Definition
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.

2 GO annotations of molecular function

Name	Definition
GTP binding	Binding to GTP, guanosine triphosphate.
GTPase activity	Catalysis of the reaction: GTP + H2O = GDP + H+ + phosphate.

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q6R518	Gpn3	GPN-loop GTPase 3	Rattus norvegicus (Rat)	PR
Q6ZM63	gpn3	GPN-loop GTPase 3	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MPRYAQLVMG	PAGSGKSTYC	ATMVQHCEAL	NRSVQVVNLD	PAAEHFNYSV	MADIRELIEV
70	80	90	100	110	120
DDVMEDDSLR	FGPNGGLVFC	MEYFANNFDW	LENCLGHVED	DYILFDCPGQ	IELYTHLPVM
130	140	150	160	170	180
KQLVQQLEQW	EFRVCGVFLV	DSQFMVESFK	FISGILAALS	AMISLEIPQV	NIMTKMDLLS
190	200	210	220	230	240
KKAKKEIEKF	LDPDMYSLLE	DSTSDLRSKK	FKKLTKAICG	LIDDYSMVRF	LPYDQSDEES
250	260	270	280
MNIVLQHIDF	AIQYGEDLEF	KEPKEREDES	SSMFDEYFQE	CQDE