AiPD: Autoinhibited Protein Database

Q8NHY2

Gene name	COP1
Protein name	E3 ubiquitin-protein ligase COP1
Names	Constitutive photomorphogenesis protein 1 homolog, hCOP1, RING finger and WD repeat domain protein 2, RING finger protein 200, RING-type E3 ubiquitin transferase RFWD2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:64326
EC number	2.3.2.27: Aminoacyltransferases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-139 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-139 (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

3 structures for Q8NHY2

Entry ID	Method	Resolution	Chain	Position	Source
5HQG	X-ray	200 A	A	376-731	PDB
5IGQ	X-ray	390 A	A/B/C/D/E/F	386-731	PDB
AF-Q8NHY2-F1	Predicted				AlphaFoldDB

425 variants for Q8NHY2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1190806175 CA343829214	2	S>F		No	ClinGen TOPMed
CA343829218 rs1175140935	2	S>P		No	ClinGen gnomAD
rs781271985 CA1257002	5	R>P		No	ClinGen ExAC TOPMed gnomAD
CA33256154 rs1051300288	6	Q>P		No	ClinGen TOPMed
CA343829183 rs893191628	7	A>G		No	ClinGen TOPMed gnomAD
rs893191628 CA33256153	7	A>V		No	ClinGen TOPMed gnomAD
CA33256152 rs868382148	9	S>W		No	ClinGen TOPMed gnomAD
CA343829168 rs1461971478	10	G>D		No	ClinGen gnomAD
CA1257000 rs751499796	11	S>T		No	ClinGen ExAC TOPMed gnomAD
rs909904029 CA33256150	12	A>G		No	ClinGen TOPMed gnomAD
CA33256151 rs1046345036	12	A>S		No	ClinGen gnomAD
rs528847290 CA1256999	15	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1334377280 CA343829134	16	P>R		No	ClinGen gnomAD
CA33256149 rs930088523	16	P>S		No	ClinGen TOPMed gnomAD
CA343829114 rs1330318852	20	A>T		No	ClinGen TOPMed
rs982005070 CA33256147	22	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA1256997 rs752538197	23	S>L		No	ClinGen ExAC TOPMed gnomAD
rs941795721 CA33256146	26	S>F		No	ClinGen TOPMed gnomAD
rs941795721 CA343829077	26	S>Y		No	ClinGen TOPMed gnomAD
CA33256145 rs908928086	28	S>F		No	ClinGen TOPMed gnomAD
CA343829069 rs1217459226	28	S>T		No	ClinGen gnomAD
CA33256144 rs989823943	29	S>L		No	ClinGen TOPMed
rs1412611185 CA343829055	30	S>C		No	ClinGen TOPMed
rs983594729 CA343829042	32	S>C		No	ClinGen TOPMed gnomAD
rs983594729 CA33256143	32	S>F		No	ClinGen TOPMed gnomAD
CA343829036 rs1165280945	33	S>F		No	ClinGen TOPMed gnomAD
CA343829041 rs1378377669	33	S>T		No	ClinGen TOPMed gnomAD
rs1165280945 CA343829038	33	S>Y		No	ClinGen TOPMed gnomAD
rs765186257 CA1256996	34	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1230718405 CA343829025	35	P>L		No	ClinGen TOPMed
rs1242824595 CA343829014	37	P>L		No	ClinGen gnomAD
CA343829011 rs1222646575	38	P>A		No	ClinGen TOPMed
CA343829007 rs1181915874	38	P>L		No	ClinGen gnomAD
TCGA novel	38	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343829001 rs1267439377	39	S>F		No	ClinGen TOPMed
rs950879346 CA33256139	40	V>G		No	ClinGen Ensembl
rs200750059 CA1256995	41	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA343828982 rs1479735399	43	S>A		No	ClinGen TOPMed
CA343828973 rs1572855336	44	A>V		No	ClinGen Ensembl
rs1247249141 CA343828965	46	A>S		No	ClinGen gnomAD
rs1359102434 CA343828957	47	L>P		No	ClinGen gnomAD
CA343828935 rs1327701826	51	G>E		No	ClinGen gnomAD
CA1256992 rs760127773	51	G>R		No	ClinGen ExAC TOPMed gnomAD
CA33256136 rs958604805	52	V>G		No	ClinGen Ensembl
rs1185657903 CA343828927	53	A>T		No	ClinGen TOPMed
CA343828910 rs1165378081	55	A>D		No	ClinGen TOPMed gnomAD
CA343828913 rs1358618553	55	A>T		No	ClinGen gnomAD
rs1349479727 CA343828907	56	A>S		No	ClinGen TOPMed gnomAD
rs1370981350 CA343828898	57	G>D		No	ClinGen TOPMed
CA33256134 rs964768927	58	S>L		No	ClinGen TOPMed gnomAD
CA33256131 rs1011552758	63	G>C		No	ClinGen Ensembl
CA33256130 rs1039848777	64	P>L		No	ClinGen TOPMed
rs201251247 CA1256991	64	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	65	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343828841 rs1229239883	67	P>L		No	ClinGen TOPMed
CA1256990 rs769118592	68	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1487343662 CA343828827	70	V>L		No	ClinGen gnomAD
CA343828817 rs1261791810	71	A>E		No	ClinGen gnomAD
CA343828805 rs1289979035	73	A>V		No	ClinGen gnomAD
rs1572854810 CA343828802	74	V>L		No	ClinGen Ensembl
CA343828793 rs1227884588	75	S>L		No	ClinGen TOPMed
rs1275480139 CA343828787	76	G>A		No	ClinGen TOPMed
CA343828785 rs1187722425	77	S>G		No	ClinGen gnomAD
CA1256987 rs763204359	79	G>C		No	ClinGen ExAC TOPMed gnomAD
rs773357567 CA1256986	79	G>D		No	ClinGen ExAC TOPMed gnomAD
rs763204359 CA343828772	79	G>S		No	ClinGen ExAC TOPMed gnomAD
rs773357567 CA1256985	79	G>V		No	ClinGen ExAC TOPMed gnomAD
rs747059700 CA1256983	81	A>P		No	ClinGen ExAC TOPMed gnomAD
rs778069436 CA1256982	81	A>V		No	ClinGen ExAC TOPMed gnomAD
rs752699432 CA343828750	83	S>C		No	ClinGen ExAC TOPMed gnomAD
rs752699432 CA1256980	83	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1272983146 CA343828752	83	S>P		No	ClinGen gnomAD
CA1256979 rs778706741	84	T>M		No	ClinGen ExAC TOPMed gnomAD
CA343828735 rs1431484004	86	L>P		No	ClinGen gnomAD
CA343828725 rs1298417395	88	R>Q		No	ClinGen TOPMed gnomAD
rs753481346 CA1256977	88	R>W		No	ClinGen ExAC gnomAD
rs1304985038 CA343828719	89	H>P		No	ClinGen TOPMed
rs1360261490 CA343828713	90	S>G		No	ClinGen TOPMed
CA343828698 rs1434695412	92	A>T		No	ClinGen TOPMed
rs760414924 CA1256975	93	A>S		No	ClinGen ExAC gnomAD
rs1344482634 CA343828671	96	S>N		No	ClinGen TOPMed
CA1256972 rs763391832	97	A>V		No	ClinGen ExAC gnomAD
rs1312718253 CA343828657	98	G>A		No	ClinGen TOPMed
CA343828660 rs1277923640	98	G>R		No	ClinGen TOPMed
TCGA novel	98	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1256970 rs150935097	99	V>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA343828655 rs1212095782	99	V>I		No	ClinGen TOPMed
CA1256968 rs777100109	100	G>E		No	ClinGen ExAC TOPMed gnomAD
CA1256967 rs771057212	102	S>G		No	ClinGen ExAC TOPMed gnomAD
CA1256966 rs747294868	104	S>F		No	ClinGen ExAC gnomAD
CA33256125 rs941673112	105	S>N		No	ClinGen Ensembl
rs777946057 CA343828613	105	S>R		No	ClinGen ExAC TOPMed gnomAD
rs772286629 CA1256964	106	L>P		No	ClinGen ExAC gnomAD
CA343828607 rs1558317506	107	G>R		No	ClinGen Ensembl
CA1256963 rs553749276	108	S>G		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	108	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1558317425 CA343828588	110	S>G		No	ClinGen Ensembl
CA1256962 rs778738988	110	S>R		No	ClinGen ExAC gnomAD
TCGA novel	111	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1177135709 CA343828560	114	P>S		No	ClinGen gnomAD
rs1456199578 CA343828554	115	L>F		No	ClinGen gnomAD
CA1256960 rs749006916	116	L>P		No	ClinGen ExAC gnomAD
rs779964540 CA1256959	117	A>V		No	ClinGen ExAC TOPMed gnomAD
rs375065354 CA1256957	118	P>S		No	ClinGen ESP ExAC gnomAD
CA343828530 rs1461319578	119	L>H		No	ClinGen gnomAD
CA343828534 rs1438908344	119	L>V		No	ClinGen TOPMed
rs760126747 CA1256952	122	G>E		No	ClinGen ExAC gnomAD
rs186961348 CA1256951	124	I>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1337623320 CA343828502	124	I>V		No	ClinGen gnomAD
rs760918215 CA1256949	125	N>K		No	ClinGen ExAC gnomAD
rs766782262 CA1256950	125	N>S		No	ClinGen ExAC TOPMed gnomAD
CA343828493 rs766782262	125	N>T		No	ClinGen ExAC TOPMed gnomAD
rs1553323516 CA1256947	127	Y>C		No	ClinGen Ensembl
rs1401746521 CA343828477	128	E>K		No	ClinGen gnomAD
rs1401746521 CA343828476	128	E>Q		No	ClinGen gnomAD
CA1256946 rs371044540	129	D>E		No	ClinGen ESP ExAC gnomAD
CA343828458 rs1157299597	130	K>R		No	ClinGen gnomAD
rs772231273 CA1256945	131	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1244606975 CA343828448	131	S>R		No	ClinGen gnomAD
rs748216622 CA1256944	132	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1430932868 CA343828424	135	V>I		No	ClinGen TOPMed gnomAD
TCGA novel	139	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343828358 rs1407237670	142	M>V		No	ClinGen gnomAD
CA343828343 COSM1241657 rs1366705437	144	E>K	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	146	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343828305 rs1302970526	148	M>I		No	ClinGen gnomAD
rs751810067 CA1256898	157	Y>C		No	ClinGen ExAC gnomAD
CA343828220 rs1252341128	158	K>R		No	ClinGen gnomAD
rs146437773 CA1256897	161	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA343828199 rs1363984995	161	H>Y		No	ClinGen TOPMed
CA1256896 rs763112571	166	D>E		No	ClinGen ExAC gnomAD
CA33252518 rs908495911	166	D>N		No	ClinGen TOPMed
TCGA novel	166	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1256895 rs775592333	167	N>S		No	ClinGen ExAC gnomAD
rs1041240096 CA33252517	168	N>S		No	ClinGen Ensembl
rs1379631472 CA343828127	171	P>A		No	ClinGen TOPMed
rs991982879 CA33252516	172	K>Q		No	ClinGen TOPMed
rs143954131 CA1256894	175	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA1256893 rs759533768	176	V>A		No	ClinGen ExAC gnomAD
rs138668228 CA1256892	177	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1256891 rs770721170	179	N>S		No	ClinGen ExAC gnomAD
rs746605436 CA1256890	180	I>S		No	ClinGen ExAC TOPMed gnomAD
rs746605436 CA343828064	180	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1446468879 CA343828047	182	H>Q		No	ClinGen gnomAD
CA1256889 rs777508030	183	L>R		No	ClinGen ExAC gnomAD
rs1572622228 CA343827935	197	K>E		No	ClinGen Ensembl
CA343827926 rs1193011990	198	Q>E		No	ClinGen gnomAD
TCGA novel	198	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1256863 rs746336083	199	R>I		No	ClinGen ExAC TOPMed gnomAD
CA343827918 rs746336083	199	R>K		No	ClinGen ExAC TOPMed gnomAD
CA1256862 rs370091759	200	F>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs370091759 CA343827911	200	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1320904696 CA343827901	201	E>D		No	ClinGen TOPMed
TCGA novel	204	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA33251049 rs939709506	205	F>L		No	ClinGen TOPMed
TCGA novel	214	T>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1256861 rs757748831	214	T>S		No	ClinGen ExAC
CA343827770 rs1444099543	218	R>K		No	ClinGen gnomAD
CA1256834 rs753910989 COSM3802942	220	Q>H	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs766427656 CA1256833	221	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1330861874 CA343827749	221	I>V		No	ClinGen TOPMed gnomAD
CA33250972 rs946975168	222	F>L		No	ClinGen Ensembl
rs1381146238 CA343827712	225	W>C		No	ClinGen TOPMed
CA343827710 rs1408342421	226	L>M		No	ClinGen gnomAD
rs868868912 CA33250971	226	L>S		No	ClinGen Ensembl
rs1177458259 CA343827698	228	T>A		No	ClinGen gnomAD
rs756023372 CA1256832	228	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1160720469 CA343827689	229	D>A		No	ClinGen TOPMed gnomAD
CA343827691 rs1160720469	229	D>G		No	ClinGen TOPMed gnomAD
rs1423647166 CA343827694	229	D>N		No	ClinGen TOPMed gnomAD
rs547206288 CA1256831	230	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA1256829 rs534768981	232	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA343827655 rs1238752250	234	D>A		No	ClinGen gnomAD
rs1210171421 CA343827636	237	N>D		No	ClinGen gnomAD
rs1441833303 CA343827633	237	N>S		No	ClinGen TOPMed gnomAD
CA343827619 rs1276395376	239	N>S		No	ClinGen gnomAD
rs774336303 CA33250969	240	L>F		No	ClinGen ExAC gnomAD
rs774336303 CA1256828	240	L>I		No	ClinGen ExAC gnomAD
rs762757812 CA1256826	241	M>I		No	ClinGen ExAC gnomAD
CA33250968 rs939321646	241	M>T		No	ClinGen gnomAD
rs763804168 CA1256827	241	M>V		No	ClinGen ExAC TOPMed
rs928066219 CA33250967	247	Q>P		No	ClinGen Ensembl
TCGA novel	249	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343827552 rs1385240828	249	K>R		No	ClinGen gnomAD
CA343827539 rs1447385213	251	Q>K		No	ClinGen gnomAD
CA343827532 rs1242318014	252	L>V		No	ClinGen TOPMed
rs1357986580 CA343827527	253	E>K		No	ClinGen gnomAD
rs769198965 CA1256824	254	A>T		No	ClinGen ExAC gnomAD
rs1469863897 CA343827188	260	Q>E		No	ClinGen TOPMed
rs1469863897 CA343827187	260	Q>K		No	ClinGen TOPMed
RCV000925774 rs139373171 CA1256780	262	Q>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs764390743 CA1256779	264	L>F		No	ClinGen ExAC TOPMed gnomAD
rs764390743 CA343827145	264	L>I		No	ClinGen ExAC TOPMed gnomAD
rs764390743 CA1256778	264	L>V		No	ClinGen ExAC TOPMed gnomAD
CA1256777 rs141597257	265	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA343827129 rs1311042188	265	M>V		No	ClinGen gnomAD
CA343827112 rs1408324704	266	E>K		No	ClinGen gnomAD
rs769899307 CA1256775	269	K>E		No	ClinGen ExAC gnomAD
TCGA novel	270	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1256773 rs776792809	271	A>V		No	ClinGen ExAC gnomAD
TCGA novel	272	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1362163964 CA343826989	274	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	275	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1458503408 CA343826455	279	L>R		No	ClinGen gnomAD
CA343826431 rs1367918212	283	Q>K		No	ClinGen gnomAD
rs1403729451 CA343826417	284	K>N		No	ClinGen TOPMed
CA33247930 rs201943014 CA343826368	291	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed
rs759608762 CA1256749	291	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs75124417 CA1256748	295	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs75124417 CA1256747 COSM146693 RCV000895931	295	R>T	stomach [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	296	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA33247929 rs375157865	297	E>K		No	ClinGen ESP TOPMed
rs1233750168 CA343826302	299	M>R		No	ClinGen TOPMed
CA343826303 COSM1242769 rs1233750168	299	M>T	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed
CA1256733 RCV000894746 rs41266110	299	M>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1027968033 CA33247771	300	S>N		No	ClinGen Ensembl
rs576203845 CA33247770	301	G>S		No	ClinGen Ensembl
rs537772309 CA1256731	303	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs537772309 CA343826275	303	Y>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs537772309 CA1256732	303	Y>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1256730 rs766705212	305	P>S		No	ClinGen ExAC gnomAD
CA343826266 rs766705212	305	P>T		No	ClinGen ExAC gnomAD
rs1337346574 CA343826261	306	V>I		No	ClinGen gnomAD
TCGA novel	308	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1256729 rs761037413	310	S>I		No	ClinGen ExAC gnomAD
rs772202247 CA1256727	311	T>P		No	ClinGen ExAC gnomAD
rs898617064 CA33247769	314	Q>E		No	ClinGen TOPMed
rs879098313 CA33247768	315	F>S		No	ClinGen Ensembl
CA343825474 rs1213849617	325	I>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs745481639 CA1256698	328	S>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	329	T>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343825407 rs1232750960	331	Y>C		No	ClinGen gnomAD
TCGA novel	332	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343825391 rs1162820625	332	S>R		No	ClinGen gnomAD
rs770536156 CA1256696	332	S>R		No	ClinGen ExAC gnomAD
CA1256695 rs746526584	334	P>L		No	ClinGen ExAC gnomAD
CA343825375 rs1162266622	334	P>T		No	ClinGen TOPMed
CA343825312 rs1401021597	340	S>G		No	ClinGen gnomAD
CA1256670 rs201597739	343	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA33241932 rs201051472	346	Q>H		No	ClinGen gnomAD
COSM463460 CA1256669 rs746236381	349	Y>C	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs781466000 CA1256668	351	S>N		No	ClinGen ExAC gnomAD
rs757438162 CA1256667	352	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1303904235 CA343827017	354	A>V		No	ClinGen Ensembl
rs991566021 CA33241931	357	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA33241930 rs866168136	358	K>E		No	ClinGen Ensembl
CA343826958 rs1428638489	359	R>Q		No	ClinGen TOPMed
rs1015214834 CA33241929	361	T>S		No	ClinGen TOPMed gnomAD
rs1257420684 CA343826930	362	A>T		No	ClinGen TOPMed gnomAD
TCGA novel	366	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	366	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1256663 rs199626894	376	M>L		No	ClinGen 1000Genomes ExAC gnomAD
rs138406127 CA1256662	378	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs759451215 CA1256661	378	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs759451215 CA343826811	378	R>P		No	ClinGen ExAC TOPMed gnomAD
rs138406127 CA33241928	378	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA1256634 rs766152166	381	D>A		No	ClinGen ExAC gnomAD
rs766152166 CA343826781	381	D>G		No	ClinGen ExAC gnomAD
rs1323933744 CA343826772	382	D>E		No	ClinGen gnomAD
rs760369157 CA1256633	382	D>G		No	ClinGen ExAC gnomAD
rs750285231 CA1256632	384	R>*		No	ClinGen ExAC gnomAD
CA1256631 rs148950158	384	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1167709015 CA343826744	387	S>N		No	ClinGen gnomAD
rs1474592774 CA343826738	388	Q>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1474592774 CA343826737	388	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs773937759 CA1256629	388	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA1256627 rs760045009	390	D>G		No	ClinGen ExAC gnomAD
CA1256628 rs768052231	390	D>Y		No	ClinGen ExAC gnomAD
rs777025600 CA1256626	391	E>V		No	ClinGen ExAC gnomAD
CA343826704 rs771517494	393	Q>E		No	ClinGen ExAC gnomAD
rs771517494 CA1256625	393	Q>K		No	ClinGen ExAC gnomAD
rs747340341 CA1256624	393	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA33241439 rs759920616	394	E>A		No	ClinGen Ensembl
rs1276856655 CA343826688	395	C>Y		No	ClinGen gnomAD
rs766634588 CA33241438	398	K>R		No	ClinGen ExAC TOPMed gnomAD
CA1256622 rs766634588	398	K>T		No	ClinGen ExAC TOPMed gnomAD
CA343826648 rs1301409514	401	R>Q		No	ClinGen gnomAD
rs1336872696 CA343826631	403	N>K		No	ClinGen gnomAD
rs1328721604 CA343826622	405	V>I		No	ClinGen gnomAD
CA33241437 rs760439427	406	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1256614 rs767429805	414	A>G		No	ClinGen ExAC gnomAD
rs1201782011 CA343826556	415	S>I		No	ClinGen gnomAD
CA343826558 rs1201782011	415	S>N		No	ClinGen gnomAD
rs761487389 CA1256613	418	Y>C		No	ClinGen ExAC gnomAD
CA33241434 rs1027494851	418	Y>H		No	ClinGen TOPMed
CA343826529 rs1180942548	419	N>S		No	ClinGen TOPMed gnomAD
rs751284800 CA1256612	422	S>R		No	ClinGen ExAC gnomAD
CA1256611 rs763606994	426	S>G		No	ClinGen ExAC gnomAD
TCGA novel	428	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343824837 rs1470157000	430	D>Y		No	ClinGen TOPMed
rs1337602892 CA343824827	431	R>L		No	ClinGen TOPMed gnomAD
rs1337602892 CA343824829	431	R>Q		No	ClinGen TOPMed gnomAD
rs1222131072 CA343824830	431	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1298887687 CA343824814	433	C>S		No	ClinGen TOPMed
rs1298887687 CA343824815	433	C>Y		No	ClinGen TOPMed
rs764809261 CA1256590	434	D>E		No	ClinGen ExAC gnomAD
rs1373217036 CA343824782	437	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA33237445 rs143995872	441	V>A		No	ClinGen ESP
TCGA novel	441	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768063118 CA1256587	444	K>R		No	ClinGen ExAC gnomAD
CA343824729 rs1432514228	446	K>Q		No	ClinGen gnomAD
CA1256585 rs774848270	451	D>A		No	ClinGen ExAC gnomAD
CA343824688 rs774848270	451	D>G		No	ClinGen ExAC gnomAD
CA1256584 rs201803019	455	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs749542797 CA1256583	457	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA343824631 rs1415448519	460	I>L		No	ClinGen gnomAD
rs1557994734 CA343824616	462	Y>N		No	ClinGen Ensembl
rs1188043296 CA343824608	463	P>A		No	ClinGen gnomAD
rs1486349814 CA343824564	468	T>I		No	ClinGen gnomAD
CA343824549 rs1241685594	470	N>K		No	ClinGen gnomAD
CA343824530 rs1557994590	473	I>T		No	ClinGen Ensembl
rs1023399314 CA33237444	473	I>V		No	ClinGen gnomAD
CA33237211 rs866969170	474	S>R		No	ClinGen Ensembl
TCGA novel	475	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1212567452 CA343824491	477	S>G		No	ClinGen TOPMed
CA1256559 rs142130934	477	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs771924249 CA1256558	482	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1221051301 CA343824438	483	K>N		No	ClinGen TOPMed
rs549951633 CA1256557	484	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA33237209 rs955469642	487	A>G		No	ClinGen TOPMed
CA343824364 rs1395910647	494	T>I		No	ClinGen gnomAD
CA343824361 rs1452611461	495	V>I		No	ClinGen TOPMed gnomAD
TCGA novel	501	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	501	F>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779557909 CA1256553	502	T>A		No	ClinGen ExAC gnomAD
CA343824306 rs1231593204	502	T>I		No	ClinGen gnomAD
CA33237208 rs1028269251	503	G>A		No	ClinGen TOPMed gnomAD
CA343824198 rs1571882083	516	C>G		No	ClinGen Ensembl
rs1239126571 CA343824180	518	S>G		No	ClinGen gnomAD
rs1571882044 CA343824174	518	S>R		No	ClinGen Ensembl
TCGA novel	521	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA33237160 rs1051204024	523	L>V		No	ClinGen TOPMed gnomAD
rs749947391 CA1256532	524	M>I		No	ClinGen ExAC gnomAD
CA1256533 rs755667519	524	M>V		No	ClinGen ExAC gnomAD
rs1355901611 CA343824122	526	P>A		No	ClinGen gnomAD
CA1256530 rs758892504	530	A>S		No	ClinGen ExAC gnomAD
rs1387396625 CA343824091	530	A>V		No	ClinGen gnomAD
TCGA novel	538	V>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343827463 rs1272399205	544	N>S		No	ClinGen TOPMed gnomAD
TCGA novel	546	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343827452 rs1251652086	546	D>N		No	ClinGen gnomAD
CA1256508 rs754295719	550	A>S		No	ClinGen ExAC gnomAD
rs766620891 CA1256507	552	I>V		No	ClinGen ExAC gnomAD
CA1256506 rs750463079	554	A>P		No	ClinGen ExAC gnomAD
rs750463079 CA1256505	554	A>T		No	ClinGen ExAC gnomAD
CA343827386 rs1370920392	556	A>T		No	ClinGen gnomAD
CA343827379 rs1458680055	557	N>D		No	ClinGen TOPMed
TCGA novel	563	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764063146 CA1256501	565	P>T		No	ClinGen ExAC gnomAD
CA1256499 rs775328364	569	Y>C		No	ClinGen ExAC gnomAD
rs769472624 CA1256498	570	H>N		No	ClinGen ExAC gnomAD
CA343827274 rs1454295717	572	A>T		No	ClinGen gnomAD
CA343827251 rs1251043866	575	C>S		No	ClinGen gnomAD
CA343825957 rs1225474546	579	C>R		No	ClinGen gnomAD
rs935033726 CA33230473	582	Y>C		No	ClinGen gnomAD
rs144811828 CA1256474	583	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1352053056 CA343825929	583	Y>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA343825905 rs1352317190	586	R>H		No	ClinGen TOPMed
CA33230471 rs940317522	588	T>S		No	ClinGen TOPMed
rs111531372 CA343825882	589	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1357802652 CA343825872	591	P>A		No	ClinGen TOPMed gnomAD
rs780429584 CA343825863	592	I>M		No	ClinGen ExAC TOPMed gnomAD
CA343825865 rs749820946	592	I>N		No	ClinGen ExAC gnomAD
rs749820946 CA1256471	592	I>S		No	ClinGen ExAC gnomAD
CA1256472 rs769230149	592	I>V		No	ClinGen ExAC gnomAD
CA343825855 rs1331626642	593	M>I		No	ClinGen gnomAD
rs139905169 CA1256468	595	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA343825836 rs1158274380	596	K>R		No	ClinGen gnomAD
rs1419838517 CA343825816	599	R>C		No	ClinGen gnomAD
CA343825815 rs1271141729	599	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA33230468 rs201071402	603	S>P		No	ClinGen 1000Genomes
rs1056587107 CA33230467	610	G>D		No	ClinGen TOPMed
rs1235889851 CA343825735	611	E>A		No	ClinGen gnomAD
rs762433396 CA343825732	611	E>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	614	V>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	615	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1447615910 CA343825698	616	A>V		No	ClinGen gnomAD
rs1571423677 CA343825667	619	D>V		No	ClinGen Ensembl
TCGA novel	625	W>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1256441 rs573637805	626	N>D		No	ClinGen 1000Genomes ExAC gnomAD
rs755790925 CA1256438	632	C>R		No	ClinGen ExAC gnomAD
rs1373130435 CA343825576	632	C>Y		No	ClinGen gnomAD
rs1326454203 CA343825564	634	R>C		No	ClinGen gnomAD
rs750125741 CA1256437	634	R>H		No	ClinGen ExAC TOPMed gnomAD
CA1256436 rs767331588	637	K>E		No	ClinGen ExAC TOPMed gnomAD
CA1256435 rs761194117	637	K>T		No	ClinGen ExAC TOPMed gnomAD
CA343825540 rs1189137912	638	G>R		No	ClinGen TOPMed
rs888014843 CA33230343	641	N>S		No	ClinGen Ensembl
rs1169168839 CA343825420	647	G>C		No	ClinGen TOPMed
rs1048486878 CA33230342	647	G>D		No	ClinGen Ensembl
rs201905141 CA1256430	651	N>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1256429 rs201905141	651	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1235031755 CA343825304	654	Y>C		No	ClinGen gnomAD
rs1227553305 CA343825311	654	Y>H		No	ClinGen gnomAD
rs557783032 CA1256428	655	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	664	L>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA33230238 rs919040413	665	Y>C		No	ClinGen Ensembl
rs766920083 CA1256410	665	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs1231803074 CA343825188	666	L>Q		No	ClinGen gnomAD
rs1434498507 CA343825148	672	S>P		No	ClinGen TOPMed
CA343825143 rs1228808322	673	K>Q		No	ClinGen gnomAD
CA343825135 rs1349687644	674	T>A		No	ClinGen gnomAD
rs760996935 CA1256409	675	L>S		No	ClinGen ExAC gnomAD
rs1403102752 CA343825108	678	F>S		No	ClinGen gnomAD
CA343825082 rs1464569267	681	D>E		No	ClinGen TOPMed gnomAD
CA343825075 rs1347497817	682	T>I		No	ClinGen gnomAD
CA33230237 rs965736366	683	V>I		No	ClinGen TOPMed gnomAD
CA33230236 rs1018631153	686	V>I		No	ClinGen Ensembl
rs374830292 CA1256404	688	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3418378 CA1256403 rs749431618	691	R>Q	large_intestine Variant assessed as Somatic; 4.626e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA343825000 rs1481964865	693	E>D		No	ClinGen gnomAD
CA343824991 rs1209327714	695	D>N		No	ClinGen gnomAD
rs756182988 CA1256401	703	V>M		No	ClinGen ExAC gnomAD
rs1234848851 CA343824926	704	C>G		No	ClinGen gnomAD
CA1256399 rs781050877	708	L>P		No	ClinGen ExAC TOPMed gnomAD
rs756790621 CA1256398	709	P>Q		No	ClinGen ExAC gnomAD
CA343824886 rs1457241792	710	D>G		No	ClinGen gnomAD
rs751253552 CA1256397	710	D>H		No	ClinGen ExAC gnomAD
CA343824878 rs1446436434	711	G>E		No	ClinGen TOPMed
CA1256318 rs767480142	712	E>V		No	ClinGen ExAC gnomAD
CA33225749 rs976102957	714	N>H		No	ClinGen gnomAD
CA1256316 rs757413310	714	N>S		No	ClinGen ExAC TOPMed gnomAD
rs965115155 CA33225748	725	I>V		No	ClinGen Ensembl
rs769527841 CA1256291	731	V>A		No	ClinGen ExAC TOPMed gnomAD
rs774985721 CA1256292	731	V>I		No	ClinGen ExAC gnomAD

No associated diseases with Q8NHY2

7 regional properties for Q8NHY2

Type	Name	Position	InterPro Accession
repeat	WD40 repeat	410 - 449	IPR001680-1
repeat	WD40 repeat	460 - 499	IPR001680-2
repeat	WD40 repeat	502 - 584	IPR001680-3
repeat	WD40 repeat	588 - 668	IPR001680-4
domain	Zinc finger, RING-type	136 - 174	IPR001841
conserved_site	Zinc finger, RING-type, conserved site	151 - 160	IPR017907
conserved_site	WD40 repeat, conserved site	613 - 627	IPR019775

Functions

		Description
EC Number	2.3.2.27	Aminoacyltransferases
Subcellular Localization	Nucleus speckle Cytoplasm	In the nucleus, it forms nuclear speckles
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
Cul4A-RING E3 ubiquitin ligase complex	A ubiquitin ligase complex in which a cullin from the Cul4A subfamily and a RING domain protein form the catalytic core; substrate specificity is conferred by an adaptor protein.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nuclear speck	A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.

3 GO annotations of molecular function

Name	Definition
metal ion binding	Binding to a metal ion.
ubiquitin protein ligase activity	Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond: an isopeptide bond between the C-terminal glycine of ubiquitin and the epsilon-amino group of lysine residues in the substrate or, in the linear extension of ubiquitin chains, a peptide bond the between the C-terminal glycine and N-terminal methionine of ubiquitin residues.
ubiquitin-protein transferase activity	Catalysis of the transfer of ubiquitin from one protein to another via the reaction X-Ub + Y --> Y-Ub + X, where both X-Ub and Y-Ub are covalent linkages.

3 GO annotations of biological process

Name	Definition
positive regulation of proteasomal ubiquitin-dependent protein catabolic process	Any process that activates or increases the frequency, rate or extent of the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome.
proteasome-mediated ubiquitin-dependent protein catabolic process	The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome.
response to ionizing radiation	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a ionizing radiation stimulus. Ionizing radiation is radiation with sufficient energy to remove electrons from atoms and may arise from spontaneous decay of unstable isotopes, resulting in alpha and beta particles and gamma rays. Ionizing radiation also includes X-rays.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9R1A8	Cop1	E3 ubiquitin-protein ligase COP1	Mus musculus (Mouse)	PR
Q9T014	SPA2	Protein SPA1-RELATED 2	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MSGSRQAGSG	SAGTSPGSSA	ASSVTSASSS	LSSSPSPPSV	AVSAAALVSG	GVAQAAGSGG
70	80	90	100	110	120
LGGPVRPVLV	APAVSGSGGG	AVSTGLSRHS	CAARPSAGVG	GSSSSLGSGS	RKRPLLAPLC
130	140	150	160	170	180
NGLINSYEDK	SNDFVCPICF	DMIEEAYMTK	CGHSFCYKCI	HQSLEDNNRC	PKCNYVVDNI
190	200	210	220	230	240
DHLYPNFLVN	ELILKQKQRF	EEKRFKLDHS	VSSTNGHRWQ	IFQDWLGTDQ	DNLDLANVNL
250	260	270	280	290	300
MLELLVQKKK	QLEAESHAAQ	LQILMEFLKV	ARRNKREQLE	QIQKELSVLE	EDIKRVEEMS
310	320	330	340	350	360
GLYSPVSEDS	TVPQFEAPSP	SHSSIIDSTE	YSQPPGFSGS	SQTKKQPWYN	STLASRRKRL
370	380	390	400	410	420
TAHFEDLEQC	YFSTRMSRIS	DDSRTASQLD	EFQECLSKFT	RYNSVRPLAT	LSYASDLYNG
430	440	450	460	470	480
SSIVSSIEFD	RDCDYFAIAG	VTKKIKVYEY	DTVIQDAVDI	HYPENEMTCN	SKISCISWSS
490	500	510	520	530	540
YHKNLLASSD	YEGTVILWDG	FTGQRSKVYQ	EHEKRCWSVD	FNLMDPKLLA	SGSDDAKVKL
550	560	570	580	590	600
WSTNLDNSVA	SIEAKANVCC	VKFSPSSRYH	LAFGCADHCV	HYYDLRNTKQ	PIMVFKGHRK
610	620	630	640	650	660
AVSYAKFVSG	EEIVSASTDS	QLKLWNVGKP	YCLRSFKGHI	NEKNFVGLAS	NGDYIACGSE
670	680	690	700	710	720
NNSLYLYYKG	LSKTLLTFKF	DTVKSVLDKD	RKEDDTNEFV	SAVCWRALPD	GESNVLIAAN
730
SQGTIKVLEL	V