AiPD: Autoinhibited Protein Database

Q13098

Gene name	GPS1 (COPS1, CSN1)
Protein name	COP9 signalosome complex subunit 1
Names	SGN1, Signalosome subunit 1, G protein pathway suppressor 1, GPS-1, JAB1-containing signalosome subunit 1, Protein MFH
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2873
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

70-139 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

70-139 (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

12 structures for Q13098

Entry ID	Method	Resolution	Chain	Position	Source
4D10	X-ray	380 A	A/I	12-491	PDB
4D18	X-ray	408 A	A/I	12-491	PDB
4WSN	X-ray	550 A	A/I/Q/Y/g/o	12-491	PDB
6R6H	EM	840 A	A	1-491	PDB
6R7F	EM	820 A	A	37-469	PDB
6R7H	EM	880 A	A	37-469	PDB
6R7I	EM	590 A	A	37-491	PDB
6R7N	EM	650 A	A	1-491	PDB
8H38	EM	425 A	A	12-491	PDB
8H3A	EM	751 A	A	12-491	PDB
8H3F	EM	673 A	A	12-491	PDB
AF-Q13098-F1	Predicted				AlphaFoldDB

348 variants for Q13098

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA401566525 rs1258058601	4	P>L		No	ClinGen TOPMed
TCGA novel	12	G>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1488603604 CA401567389	12	G>A		No	ClinGen TOPMed
rs1259595966 CA401567397	13	A>V		No	ClinGen TOPMed
rs761034336 CA8849537	14	V>M		No	ClinGen ExAC gnomAD
TCGA novel	20	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8849539 rs754427804	21	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs777463631 CA8849541	23	P>L		No	ClinGen ExAC gnomAD
CA401567463 rs1297472488	23	P>S		No	ClinGen gnomAD
TCGA novel	25	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756992256 CA401567489	26	D>E		No	ClinGen ExAC gnomAD
CA295168542 rs745651143	27	P>L		No	ClinGen ExAC TOPMed
rs745651143 CA8849545	27	P>Q		No	ClinGen ExAC TOPMed
CA8849544 rs780836115	27	P>S		No	ClinGen ExAC TOPMed gnomAD
CA8849549 rs201940978	32	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8849550 rs146475501	33	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs146475501 CA8849551	33	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs772287075 CA401567537	34	N>I		No	ClinGen ExAC TOPMed gnomAD
rs1197892853 CA401567539	34	N>K		No	ClinGen gnomAD
rs772287075 CA8849552	34	N>S		No	ClinGen ExAC TOPMed gnomAD
CA295168605 rs371123465	36	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA401567573 rs1483945313	39	N>K		No	ClinGen TOPMed
rs1032879272 CA295168630	39	N>T		No	ClinGen TOPMed
CA8849555 rs140896360	41	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs150175030 CA8849556	41	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760149763 CA8849557	42	L>Q		No	ClinGen ExAC gnomAD
rs933303596 CA295170921	47	Y>H		No	ClinGen Ensembl
CA8849582 rs749863538	48	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8849583 rs367909717	48	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138637070 CA401568224	49	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs753638195 CA401568208	49	A>P		No	ClinGen ExAC gnomAD
rs753638195 CA8849585	49	A>T		No	ClinGen ExAC gnomAD
CA8849586 rs138637070	49	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8849587 rs778666837	50	S>N		No	ClinGen ExAC TOPMed gnomAD
rs758239197 CA8849589	51	Y>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	51	Y>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401568267 rs1321887258	52	S>G		No	ClinGen gnomAD
rs200940124 CA8849592	53	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401568322 rs1304392209	55	M>L		No	ClinGen TOPMed gnomAD
rs1304392209 CA401568319	55	M>V		No	ClinGen TOPMed gnomAD
CA8849595 rs770336572	56	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1208774780 CA401568350	56	R>H		No	ClinGen gnomAD
rs1272522374 CA401568361	57	I>V		No	ClinGen gnomAD
CA401568402 rs1223622618	59	R>Q		No	ClinGen gnomAD
TCGA novel	60	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772794611 CA8849599	61	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA8849600 rs760041840	62	F>I		No	ClinGen ExAC gnomAD
rs1473638620 CA401568502	65	D>A		No	ClinGen gnomAD
rs1568049414 CA401568498	65	D>N		No	ClinGen Ensembl
CA401568519 rs1159978489	66	H>N		No	ClinGen TOPMed gnomAD
rs1393773322 CA401568533	66	H>R		No	ClinGen gnomAD
CA401568526 rs1159978489	66	H>Y		No	ClinGen TOPMed gnomAD
rs1460338415 CA401568575	67	C>Y		No	ClinGen gnomAD
CA401568594 rs1350886961	68	P>L		No	ClinGen gnomAD
rs765912575 CA8849601	68	P>S		No	ClinGen ExAC gnomAD
rs1441925267 CA401568612	69	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs757791795 CA8849602	71	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA295171039 rs996413584	74	A>T		No	ClinGen TOPMed
rs1292137388 CA401568725	76	K>E		No	ClinGen gnomAD
CA401568732 rs1288402101	76	K>R		No	ClinGen TOPMed
CA8849604 rs765058049	77	M>T		No	ClinGen ExAC gnomAD
rs1290476186 CA401568793	78	A>V		No	ClinGen gnomAD
rs752447659 CA8849605	79	L>F		No	ClinGen ExAC gnomAD
rs758381226 CA8849606	80	S>F		No	ClinGen ExAC gnomAD
CA401568919 rs1176818885	82	V>A		No	ClinGen TOPMed
CA401569018 rs1172430701	85	T>A		No	ClinGen TOPMed
CA401569028 TCGA novel rs1183121546	85	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
rs757343669 CA8849609	86	F>S		No	ClinGen ExAC gnomAD
rs746139271 CA8849611	88	V>M		No	ClinGen ExAC TOPMed gnomAD
rs147514545 CA8849612	90	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1409811818 CA401569222	90	M>V		No	ClinGen TOPMed gnomAD
rs769214932 CA8849615	93	E>D		No	ClinGen ExAC gnomAD
rs565326582 CA8849616	94	I>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1284774947 CA401569405	95	H>Y		No	ClinGen TOPMed gnomAD
rs199969665 CA8849618	96	R>C	Variant assessed as Somatic; 4.722e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs866017121 CA295171126	96	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8849619 rs776090806	98	L>V		No	ClinGen ExAC TOPMed gnomAD
CA8849621 rs759218958	99	S>P		No	ClinGen ExAC gnomAD
CA8849620 rs759218958	99	S>T		No	ClinGen ExAC gnomAD
CA401569543 rs1257042609	100	E>V		No	ClinGen TOPMed gnomAD
CA8849622 rs752500668	101	A>T		No	ClinGen ExAC gnomAD
CA8849658 rs768311600	105	S>P		No	ClinGen ExAC gnomAD
rs774035765 CA8849659	106	L>F		No	ClinGen ExAC gnomAD
rs761636383 CA8849660	106	L>P		No	ClinGen ExAC gnomAD
CA401569918 rs1350141423	108	E>G		No	ClinGen gnomAD
CA401569929 rs1211875455	109	L>M		No	ClinGen TOPMed gnomAD
rs890703734 CA295171583	109	L>P		No	ClinGen TOPMed gnomAD
rs1183847350 CA401569947	110	Q>R		No	ClinGen gnomAD
CA8849662 rs773344800	112	A>T		No	ClinGen ExAC TOPMed gnomAD
rs868110239 CA295171604	113	P>H		No	ClinGen Ensembl
rs749530554 CA295171598	113	P>S		No	ClinGen gnomAD
CA295171637 rs893945180	114	D>G		No	ClinGen TOPMed
rs369888073 CA295171628	114	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA401570007 rs1408263183	115	A>T		No	ClinGen gnomAD
CA8849665 rs371231940	116	I>F		No	ClinGen ESP ExAC gnomAD
CA401570020 rs371231940	116	I>V		No	ClinGen ESP ExAC gnomAD
CA401570038 rs1375960289	117	P>R		No	ClinGen TOPMed
CA401570035 rs1351231222	117	P>S		No	ClinGen gnomAD
CA401570031 rs1351231222	117	P>T		No	ClinGen gnomAD
rs1395526204 CA401570050	119	S>G		No	ClinGen gnomAD
rs541936561 CA8849668	120	G>C		No	ClinGen 1000Genomes ExAC gnomAD
CA401570057 rs1246085407	120	G>D		No	ClinGen gnomAD
rs541936561 CA8849667	120	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs778096914 CA8849670	121	V>M		No	ClinGen ExAC TOPMed gnomAD
rs747559436 CA8849671	123	P>A		No	ClinGen ExAC gnomAD
CA401570077 rs1485097123	123	P>H		No	ClinGen gnomAD
rs1257584996 CA401570080	124	P>S		No	ClinGen gnomAD
rs141937467 CA8849672	125	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1192327783 CA401570091	125	A>V		No	ClinGen gnomAD
rs1388109610 CA401570120	128	T>M		No	ClinGen gnomAD
rs1170797389 CA401570159	131	V>A		No	ClinGen gnomAD
rs1465682782 CA401570185	133	A>V		No	ClinGen gnomAD
rs139982509 CA8849674	134	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA295171692 rs1035379619	135	R>Q		No	ClinGen TOPMed gnomAD
rs1397148983 CA401570198	135	R>W		No	ClinGen gnomAD
rs774123575 CA8849676	138	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8849678 rs772045477	141	K>R		No	ClinGen ExAC TOPMed gnomAD
CA8849681 rs766291739	145	L>V		No	ClinGen ExAC gnomAD
rs1244529178 CA401570295	146	D>N		No	ClinGen TOPMed
rs1451168116 CA401570304	147	T>A		No	ClinGen gnomAD
TCGA novel	148	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764478554 CA8849687	154	G>S		No	ClinGen ExAC gnomAD
rs1387072763 CA401570367	156	S>T		No	ClinGen gnomAD
rs1298801880 CA401570374	157	I>V		No	ClinGen gnomAD
CA401570412 rs1440908845	162	R>Q		No	ClinGen gnomAD
CA8849692 rs754578240	162	R>W		No	ClinGen ExAC TOPMed gnomAD
CA401570424 rs1568055234	164	G>D		No	ClinGen Ensembl
CA401570427 rs1466204732	165	H>N		No	ClinGen gnomAD
CA295171884 rs966671883	167	D>E		No	ClinGen gnomAD
CA8849694 rs747847902	167	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8849696 rs777733533	170	D>E		No	ClinGen ExAC TOPMed gnomAD
CA401570461 rs1176680031	170	D>N		No	ClinGen TOPMed
CA295171894 rs868217672	172	Y>C		No	ClinGen Ensembl
rs746744726 CA8849697	172	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs868217672 CA401570477	172	Y>S		No	ClinGen Ensembl
rs999592009 CA295171910	177	D>E		No	ClinGen Ensembl
rs935356970 CA295171913	178	L>F		No	ClinGen TOPMed
CA8849698 rs770776929	179	S>G		No	ClinGen ExAC gnomAD
CA401570535 rs1434721433	181	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA401570543 rs1294986494	182	L>F		No	ClinGen gnomAD
rs878893994 CA295171953	187	R>W		No	ClinGen gnomAD
CA401570589 rs1285951949	189	R>Q		No	ClinGen gnomAD
rs763190588 CA8849703	193	T>P		No	ClinGen ExAC gnomAD
CA401570628 rs375853187	194	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1312145319 CA401570630	195	A>P		No	ClinGen TOPMed
CA401570634 rs1247009382	195	A>V		No	ClinGen TOPMed gnomAD
CA401570640 rs1598503998	196	K>N		No	ClinGen Ensembl
CA8849705 rs751931963	196	K>R		No	ClinGen ExAC gnomAD
rs149095451 CA8849706	198	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756551905 CA8849709	205	V>A		No	ClinGen ExAC gnomAD
rs1449305324 CA401570865	208	V>I		No	ClinGen gnomAD
rs546416950 CA8849750	210	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1171587686 CA401570916	211	Y>C		No	ClinGen gnomAD
TCGA novel	215	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1432733483 CA401571057	219	L>V		No	ClinGen gnomAD
CA401571156 rs1390896344	223	S>T		No	ClinGen TOPMed
rs1228497642 CA401571190	225	A>T		No	ClinGen gnomAD
TCGA novel	227	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	230	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA295172289 rs944434291	230	E>D		No	ClinGen Ensembl
CA8849760 rs749265087	232	A>D		No	ClinGen ExAC gnomAD
CA8849759 rs563526326	232	A>T		No	ClinGen ExAC TOPMed gnomAD
rs749265087 CA8849761	232	A>V		No	ClinGen ExAC gnomAD
rs759169597 CA295172634	235	R>L		No	ClinGen ExAC TOPMed gnomAD
rs759169597 CA8849816	235	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs764978700 CA8849817	237	E>Q		No	ClinGen ExAC gnomAD
rs1598508822 CA401571687	238	R>G		No	ClinGen Ensembl
rs775312656 CA8849818	238	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1447920955 CA401571713	239	D>N		No	ClinGen gnomAD
CA401571756 rs1362595320	240	S>G		No	ClinGen TOPMed
rs1598508972 CA401571817	242	T>S		No	ClinGen Ensembl
rs574840143 CA401571861	243	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1173889425 CA401571886	244	A>V		No	ClinGen Ensembl
rs1408958507 CA401571931	246	L>H		No	ClinGen gnomAD
rs767691039 CA8849823	250	K>R		No	ClinGen ExAC TOPMed gnomAD
CA401572088 rs1363410887	253	A>T		No	ClinGen gnomAD
rs750722265 CA8849824	253	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1464706543 CA401574378	257	E>D		No	ClinGen gnomAD
CA401574383 rs1190665170	258	L>M		No	ClinGen gnomAD
rs572104126 CA401574414	260	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs572104126 CA8849864	260	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1366937591 CA401574420	261	R>G		No	ClinGen TOPMed
CA401574424 rs765624657	261	R>K		No	ClinGen ExAC TOPMed gnomAD
rs765624657 CA8849865	261	R>T		No	ClinGen ExAC TOPMed gnomAD
CA401574488 rs1177042501	264	K>R		No	ClinGen gnomAD
CA401574506 rs1043566272	265	Q>L		No	ClinGen TOPMed gnomAD
CA295173355 rs1043566272	265	Q>R		No	ClinGen TOPMed gnomAD
rs778182423 CA8849868	268	K>R		No	ClinGen ExAC gnomAD
rs867905702 CA295173376	269	C>F		No	ClinGen gnomAD
CA401574583 rs1598517282	269	C>G		No	ClinGen Ensembl
rs867905702 CA401574587	269	C>Y		No	ClinGen gnomAD
CA8849870 rs755708099	271	L>M		No	ClinGen ExAC gnomAD
CA401574741 rs1264301966	276	D>H		No	ClinGen gnomAD
rs1467562361 CA401574791	277	H>Q		No	ClinGen TOPMed gnomAD
CA8849872 rs749008122	278	C>Y		No	ClinGen ExAC gnomAD
rs868556326 CA295173388	280	F>L		No	ClinGen Ensembl
CA401574879 rs1286698081	281	P>R		No	ClinGen gnomAD
rs1392249125 CA401574866	281	P>S		No	ClinGen TOPMed
CA8849899 rs776782935	286	P>A		No	ClinGen ExAC TOPMed gnomAD
rs745879531 CA8849900	286	P>L		No	ClinGen ExAC gnomAD
rs1313289032 CA401575142	288	N>S		No	ClinGen TOPMed gnomAD
rs1246195774 CA401575160	289	V>L		No	ClinGen TOPMed gnomAD
rs1246195774 CA401575157	289	V>M		No	ClinGen TOPMed gnomAD
CA401575237 rs1479356167	292	Y>C		No	ClinGen gnomAD
CA295173664 rs925191477	293	G>C		No	ClinGen TOPMed
CA8849907 rs767846265	303	R>Q		No	ClinGen ExAC gnomAD
CA8849908 rs750961195	305	E>D		No	ClinGen ExAC gnomAD
CA401575433 rs1203427629	305	E>K		No	ClinGen gnomAD
rs752441909 CA8849911	307	Q>R		No	ClinGen ExAC gnomAD
CA401575509 rs1397851548	308	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1371357099 CA401575512	308	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs777649042 CA8849913	309	N>I		No	ClinGen ExAC gnomAD
rs777649042 CA401575527	309	N>S		No	ClinGen ExAC gnomAD
rs1385407787 CA401575540	310	V>L		No	ClinGen gnomAD
CA8849915 rs757221185	312	S>F		No	ClinGen ExAC gnomAD
rs745787854 CA8849917	313	S>I		No	ClinGen ExAC TOPMed gnomAD
rs1187482011 CA401575584	313	S>R		No	ClinGen gnomAD
CA401575735 rs1230938142	317	K>R		No	ClinGen TOPMed
CA401575777 rs1346073072	319	F>L		No	ClinGen TOPMed gnomAD
CA401575829 rs1598524560	322	L>R		No	ClinGen Ensembl
rs144548476 CA8849943	326	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401575919 rs1218294602	327	R>Q		No	ClinGen TOPMed gnomAD
rs762492219 CA295174045	328	D>N		No	ClinGen Ensembl
rs1309440999 CA401575964	329	I>T		No	ClinGen TOPMed
rs1373146667 CA401575955	329	I>V		No	ClinGen TOPMed
rs1286997917 CA401575981	330	I>M		No	ClinGen gnomAD
CA401575977 rs1598524796	330	I>T		No	ClinGen Ensembl
CA401576013 rs1462209543	332	K>R		No	ClinGen TOPMed
rs1490232438 CA401576023	333	F>I		No	ClinGen gnomAD
CA401576047 rs1271095734	334	Y>C		No	ClinGen gnomAD
CA401576092 rs1177110614	336	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	338	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762433099 CA8849946	339	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1159455192 CA401576170	340	S>L		No	ClinGen gnomAD
CA401576175 rs1598525098	341	C>R		No	ClinGen Ensembl
rs1304461890 CA401576247	344	M>R		No	ClinGen gnomAD
CA8849951 rs750169977	346	D>G		No	ClinGen ExAC gnomAD
CA8849950 rs369566866	346	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA401576272 rs369566866	346	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA401576300 rs1237496801	347	E>A		No	ClinGen gnomAD
CA8849953 rs780033092	347	E>K		No	ClinGen ExAC TOPMed gnomAD
rs755063059 CA8849955	348	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1415694777 CA401576463	352	L>V		No	ClinGen TOPMed
rs11539404 CA295174245	354	L>P		No	ClinGen Ensembl
CA8849973 rs753760397	356	M>T		No	ClinGen ExAC gnomAD
rs766142329 CA8849972	356	M>V		No	ClinGen ExAC TOPMed gnomAD
CA8849974 rs754907485	357	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA295174285 rs913797799	359	A>V		No	ClinGen gnomAD
TCGA novel	361	H>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	361	H>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1474840572 CA401576600	361	H>R		No	ClinGen gnomAD
rs1046065310 CA295174292	361	H>Y		No	ClinGen Ensembl
CA8849977 rs758702155	362	V>I		No	ClinGen ExAC gnomAD
CA8849979 rs778204362	363	R>K		No	ClinGen ExAC gnomAD
CA8849978 rs778204362	363	R>T		No	ClinGen ExAC gnomAD
rs781585815 CA8849981	364	T>I		No	ClinGen ExAC gnomAD
TCGA novel	364	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1568068526 CA401576734 RCV000732734	367	T>N		No	ClinGen ClinVar Ensembl dbSNP
CA8849983 rs770284936	371	N>S		No	ClinGen ExAC gnomAD
CA8849984 rs201669886	372	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs375158334 CA8849985	372	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs201669886 CA401576851	372	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401577104 rs1302309472	377	Y>H		No	ClinGen TOPMed
CA401577130 rs1440623430	378	F>V		No	ClinGen TOPMed
rs1285893895 CA401577163	379	S>N		No	ClinGen gnomAD
CA401577174 rs1598529264	380	P>S		No	ClinGen Ensembl
CA295174458 rs772664910	381	Y>S		No	ClinGen gnomAD
rs759446578 CA8850010	382	V>L		No	ClinGen ExAC TOPMed gnomAD
rs759446578 CA401577206	382	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs764924919 CA8850011	383	S>L		No	ClinGen ExAC gnomAD
rs1363081658 CA401577279	385	D>N		No	ClinGen TOPMed gnomAD
rs1160028046 CA401577297	386	M>T		No	ClinGen gnomAD
rs1468397135 CA401577290	386	M>V		No	ClinGen gnomAD
CA401577332 rs1420499380	388	R>K		No	ClinGen gnomAD
CA8850014 rs764297254	390	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1407346478 CA401577367	390	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	391	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	394	N>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375440587 CA295174492	396	T>A		No	ClinGen ESP TOPMed gnomAD
rs767711993 CA8850017	396	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA401577467 rs1289019058	397	V>A		No	ClinGen gnomAD
rs756551335 CA8850019	397	V>M		No	ClinGen ExAC gnomAD
TCGA novel	398	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1372874953 CA401577483	398	A>V		No	ClinGen gnomAD
CA401577487 rs1182094298	399	A>T		No	ClinGen Ensembl
CA8850024 rs367769469	405	T>M		No	ClinGen ESP ExAC gnomAD
rs780960641 CA8850026	406	Q>K		No	ClinGen ExAC gnomAD
rs745483456 CA8850027	407	L>P		No	ClinGen ExAC gnomAD
rs1440788832 CA401577615	407	L>V		No	ClinGen gnomAD
CA8850030 rs763003419	411	G>E		No	ClinGen ExAC gnomAD
CA401577671 rs1390125858	411	G>R		No	ClinGen gnomAD
rs1312447157 CA401577709	414	S>G		No	ClinGen TOPMed gnomAD
rs371322935 CA295174599	414	S>N		No	ClinGen ESP TOPMed gnomAD
rs375800149 CA8850033	416	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8850034 rs767481605	416	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1197464547 CA401577736	418	D>N		No	ClinGen gnomAD
CA401577768 rs1238606645	420	H>R		No	ClinGen gnomAD
CA401577785 rs1460704912	421	S>T		No	ClinGen gnomAD
CA401577872 rs1466271239	424	L>V		No	ClinGen TOPMed gnomAD
rs1413102711 CA401577900	426	A>T		No	ClinGen TOPMed
CA8850054 rs760967728	427	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA401577913 rs1288538913	427	R>W		No	ClinGen gnomAD
CA401577991 rs1166947720	432	R>H		No	ClinGen TOPMed
CA401578010 rs1344834980	433	S>N		No	ClinGen gnomAD
CA401578023 rs1416432884	434	T>I		No	ClinGen TOPMed
rs1185175374 CA401578031	435	T>A		No	ClinGen TOPMed
rs1033515746 CA295174747	435	T>N		No	ClinGen Ensembl
CA401578054 rs1470909556	436	F>L		No	ClinGen TOPMed
CA401578069 TCGA novel rs1278674088	437	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
rs759954800 CA8850057	442	M>I		No	ClinGen ExAC gnomAD
rs765567584 CA8850058	444	K>E		No	ClinGen ExAC gnomAD
CA8850059 rs753238614	444	K>R		No	ClinGen ExAC gnomAD
rs767074207 CA8850061	447	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA8850062 rs749842871	448	R>C		No	ClinGen ExAC gnomAD
rs371594086 CA8850063	448	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs375649658 CA8850064	449	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs748934095 CA8850065	449	R>H		No	ClinGen ExAC TOPMed gnomAD
CA295174853 rs879157716	450	A>T		No	ClinGen TOPMed gnomAD
rs1226676627 CA401578309	451	K>T		No	ClinGen TOPMed
CA8850068 rs748139544	453	M>T		No	ClinGen ExAC gnomAD
CA8850067 rs778811483	453	M>V		No	ClinGen ExAC gnomAD
CA401578389 rs1214408913	454	M>I		No	ClinGen TOPMed gnomAD
CA295174892 rs537799834	456	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed
rs1295213215 CA401578485	460	L>F		No	ClinGen gnomAD
CA401578506 rs771848288	461	R>C		No	ClinGen ExAC TOPMed gnomAD
rs771848288 CA8850069	461	R>G		No	ClinGen ExAC TOPMed gnomAD
rs369704373 CA8850070	461	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA401578519 rs1351813856	462	N>D		No	ClinGen gnomAD
rs1264353050 CA401578599	465	H>Y		No	ClinGen gnomAD
CA8850072 rs770989099	466	V>D		No	ClinGen ExAC gnomAD
CA8850106 rs777597772	469	P>L		No	ClinGen ExAC gnomAD
TCGA novel	470	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401578826 rs1024798705	475	Q>H		No	ClinGen gnomAD
rs1223132196 CA401578832	476	G>E		No	ClinGen gnomAD
CA8850107 rs751524723	477	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1298931630 CA401578836	477	E>K		No	ClinGen TOPMed
CA401578851 rs781260119	478	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8850109 rs781260119	478	L>Q		No	ClinGen ExAC gnomAD
CA401578891 rs1320551749	481	A>G		No	ClinGen gnomAD
CA8850110 rs745883845	482	N>T		No	ClinGen ExAC gnomAD
rs1283344274 CA401578921	483	S>T		No	ClinGen gnomAD
rs780200049 CA8850112	485	S>F		No	ClinGen ExAC gnomAD
CA8850114 rs768941843	486	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs146188371 CA295175135	486	R>W		No	ClinGen ESP gnomAD
CA295175143 rs1024667681	487	M>I		No	ClinGen TOPMed
rs139124726 CA8850115	487	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA401579075 rs1478081676	491	M>I		No	ClinGen gnomAD
rs142337919 CA8850116	491	M>T		No	ClinGen ESP ExAC TOPMed gnomAD

No associated diseases with Q13098

2 regional properties for Q13098

Type	Name	Position	InterPro Accession
domain	Golgi pH regulator, conserved domain	142 - 207	IPR022535
domain	Abscisic acid G-protein coupled receptor-like domain	277 - 446	IPR025969

Functions

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

5 GO annotations of cellular component

Name	Definition
COP9 signalosome	A protein complex that catalyzes the deneddylation of proteins, including the cullin component of SCF ubiquitin E3 ligase; deneddylation increases the activity of cullin family ubiquitin ligases. The signalosome is involved in many regulatory process, including some which control development, in many species; also regulates photomorphogenesis in plants; in many species its subunits are highly similar to those of the proteasome.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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.

1 GO annotations of molecular function

Name	Definition
GTPase inhibitor activity	Stops, prevents or reduces the activity of any enzyme that catalyzes the hydrolysis of GTP to GDP and orthophosphate.

4 GO annotations of biological process

Name	Definition
JNK cascade	An intracellular protein kinase cascade containing at least a JNK (a MAPK), a JNKK (a MAPKK) and a JUN3K (a MAP3K). The cascade can also contain an additional tier: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinases in the downstream tier to transmit a signal within a cell.
protein deneddylation	The removal of a ubiquitin-like protein of the NEDD8 type from a protein.
protein neddylation	Covalent attachment of the ubiquitin-like protein NEDD8 (RUB1) to another protein.
regulation of protein neddylation	Any process that modulates the frequency, rate or extent of protein neddylation.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q99LD4	Gps1	COP9 signalosome complex subunit 1	Mus musculus (Mouse)	PR
P97834	Gps1	COP9 signalosome complex subunit 1	Rattus norvegicus (Rat)	PR
Q9GS00	csn-1	COP9 signalosome complex subunit 1	Caenorhabditis elegans	PR

10	20	30	40	50	60
MPLPVQVFNL	QGAVEPMQID	VDPQEDPQNA	PDVNYVVENP	SLDLEQYAAS	YSGLMRIERL
70	80	90	100	110	120
QFIADHCPTL	RVEALKMALS	FVQRTFNVDM	YEEIHRKLSE	ATRSSLRELQ	NAPDAIPESG
130	140	150	160	170	180
VEPPALDTAW	VEATRKKALL	KLEKLDTDLK	NYKGNSIKES	IRRGHDDLGD	HYLDCGDLSN
190	200	210	220	230	240
ALKCYSRARD	YCTSAKHVIN	MCLNVIKVSV	YLQNWSHVLS	YVSKAESTPE	IAEQRGERDS
250	260	270	280	290	300
QTQAILTKLK	CAAGLAELAA	RKYKQAAKCL	LLASFDHCDF	PELLSPSNVA	IYGGLCALAT
310	320	330	340	350	360
FDRQELQRNV	ISSSSFKLFL	ELEPQVRDII	FKFYESKYAS	CLKMLDEMKD	NLLLDMYLAP
370	380	390	400	410	420
HVRTLYTQIR	NRALIQYFSP	YVSADMHRMA	AAFNTTVAAL	EDELTQLILE	GLISARVDSH
430	440	450	460	470	480
SKILYARDVD	QRSTTFEKSL	LMGKEFQRRA	KAMMLRAAVL	RNQIHVKSPP	REGSQGELTP
490
ANSQSRMSTN	M