AiPD: Autoinhibited Protein Database

Q13619

Gene name	CUL4A
Protein name	Cullin-4A
Names	CUL-4A
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8451
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-62 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-62 (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

7 structures for Q13619

Entry ID	Method	Resolution	Chain	Position	Source
2HYE	X-ray	310 A	C	1-759	PDB
4A0K	X-ray	593 A	A	38-759	PDB
7OKQ	EM	840 A	C/G/K/O	35-759	PDB
7OPC	EM	300 A	e	1-759	PDB
7OPD	EM	300 A	e	1-759	PDB
8B3I	EM	350 A	e	1-759	PDB
AF-Q13619-F1	Predicted				AlphaFoldDB

407 variants for Q13619

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1194835684 CA388805501	4	E>A		No	ClinGen TOPMed
CA388805498 rs1373315803	4	E>K		No	ClinGen TOPMed
rs1319557427 CA388805508	5	A>T		No	ClinGen gnomAD
CA388805517 rs1203682299	6	P>L		No	ClinGen TOPMed
CA388805514 rs1260414337	6	P>S		No	ClinGen TOPMed
rs1462156340 CA388805520	7	R>Q		No	ClinGen TOPMed
rs1223236804 CA388805533	9	G>C		No	ClinGen TOPMed gnomAD
CA388805532 rs1223236804	9	G>R		No	ClinGen TOPMed gnomAD
rs1229884101 CA388805575	15	V>A		No	ClinGen TOPMed
rs1296987922 CA388805590	18	T>A		No	ClinGen TOPMed
CA388805594 rs1456982915	18	T>I		No	ClinGen gnomAD
CA388805620 rs1334553372	22	T>S		No	ClinGen TOPMed
CA256502344 rs1003487287	25	A>T		No	ClinGen TOPMed
CA256502346 rs1031230483	26	A>S		No	ClinGen TOPMed
CA388805640 rs1031230483	26	A>T		No	ClinGen TOPMed
rs1183697987 CA388805662	30	A>S		No	ClinGen TOPMed
rs1022330908 CA256502356	34	P>L		No	ClinGen TOPMed gnomAD
CA388805695 rs1163049031	35	G>R		No	ClinGen TOPMed gnomAD
CA388805693 rs1163049031	35	G>W		No	ClinGen TOPMed gnomAD
rs774099311 CA7061765	37	A>G		No	ClinGen ExAC gnomAD
CA256502364 rs953495267	38	G>A		No	ClinGen TOPMed
rs1274139871 CA388805710	38	G>S		No	ClinGen TOPMed
rs1274143196 CA388805718	39	G>D		No	ClinGen TOPMed
rs865984992 CA256502370	40	S>C		No	ClinGen Ensembl
rs1412001377 CA388805748	44	V>L		No	ClinGen gnomAD
CA256502375 rs866449815 COSM1741972	49	R>L	urinary_tract [Cosmic]	No	ClinGen cosmic curated Ensembl
CA388805809 rs1300457636	51	R>G		No	ClinGen gnomAD
CA388805821 rs1595330652	52	P>L		No	ClinGen Ensembl
rs1374680372 CA388805816	52	P>S		No	ClinGen gnomAD
rs1350097412 CA388805826	53	R>L		No	ClinGen TOPMed gnomAD
rs1350097412 CA388805825	53	R>P		No	ClinGen TOPMed gnomAD
CA388805823 rs1307191942	53	R>W		No	ClinGen TOPMed gnomAD
CA388805834 rs1235331198	55	P>S		No	ClinGen TOPMed gnomAD
rs1006599992 CA256502493	56	D>E		No	ClinGen TOPMed gnomAD
rs1310264241 CA388805839	56	D>H		No	ClinGen gnomAD
rs1310264241 CA388805840	56	D>Y		No	ClinGen gnomAD
rs1227095844 CA388805849	57	N>S		No	ClinGen TOPMed
CA7061782 rs549078329	59	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1455037982 CA388805865	59	T>M		No	ClinGen TOPMed
rs1455037982 CA388805864	59	T>R		No	ClinGen TOPMed
rs1052562421 CA256502501	60	Q>P		No	ClinGen TOPMed gnomAD
CA256502504 rs892368451	61	D>N		No	ClinGen TOPMed gnomAD
rs1454295128 CA388805905	65	K>R		No	ClinGen gnomAD
rs867088558 CA256502510	67	H>Q		No	ClinGen gnomAD
rs1166928710 CA388805915	67	H>Y		No	ClinGen TOPMed
rs1397226926 CA388805933	69	A>V		No	ClinGen TOPMed gnomAD
CA388805935 rs1413182897	70	V>L		No	ClinGen TOPMed gnomAD
rs1413182897 CA388805934	70	V>M		No	ClinGen TOPMed gnomAD
rs367817441 CA388805940	71	R>G		No	ClinGen TOPMed gnomAD
CA7061785 rs144097059	71	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs367817441 CA256502520	71	R>W		No	ClinGen TOPMed gnomAD
rs976921505 CA256502526	72	A>T		No	ClinGen TOPMed
CA7061786 rs775119740	72	A>V		No	ClinGen ExAC gnomAD
rs1329850749 CA388805949	73	V>M		No	ClinGen gnomAD
CA388805956 rs1249217077	74	Q>R		No	ClinGen TOPMed
CA388805964 rs1373355190	75	S>N		No	ClinGen gnomAD
CA7061788 rs768419010	78	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1243052256 CA388805988	79	I>L		No	ClinGen TOPMed
CA388805997 rs776364243	80	R>K		No	ClinGen ExAC TOPMed gnomAD
CA7061789 rs776364243	80	R>T		No	ClinGen ExAC TOPMed gnomAD
rs1273452560 CA388806003	81	Y>D		No	ClinGen gnomAD
TCGA novel	85	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA256502536 rs761690889	86	L>F		No	ClinGen ExAC TOPMed gnomAD
CA7061790 rs761690889	86	L>V		No	ClinGen ExAC TOPMed gnomAD
CA388806047 rs1468567052	87	Y>C		No	ClinGen gnomAD
rs761615029 CA7061807	91	E>G		No	ClinGen ExAC gnomAD
CA388806125 rs1163147306	96	H>Q		No	ClinGen gnomAD
rs866118183 CA256507578	97	K>E		No	ClinGen TOPMed gnomAD
rs978202220 CA256507582	97	K>N		No	ClinGen TOPMed gnomAD
rs769673712 CA7061808	98	V>G		No	ClinGen ExAC gnomAD
CA7061810 rs199860261	101	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1413857516 CA388806172	104	K>E		No	ClinGen TOPMed
CA388806175 rs1355778034	104	K>R		No	ClinGen TOPMed gnomAD
CA7061813 rs200825752	107	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7061814 rs201003509	107	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201003509 CA7061815	107	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7061816 rs756498004	109	A>S		No	ClinGen ExAC gnomAD
CA7061817 rs764549641	110	C>Y		No	ClinGen ExAC gnomAD
rs1260095430 CA388806237	113	H>Q		No	ClinGen TOPMed gnomAD
rs757714902 CA7061819	114	V>I		No	ClinGen ExAC TOPMed gnomAD
rs949676763 CA256507623	115	Q>R		No	ClinGen gnomAD
CA388806256 rs1437707061	116	A>V		No	ClinGen TOPMed
CA7061821 rs199835552	117	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA7061820 rs779574306	117	Q>P		No	ClinGen ExAC
rs1193497898 CA388806271	119	L>V		No	ClinGen TOPMed
rs200624064 CA7061822	120	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA388806280 rs1379704929	120	P>L		No	ClinGen gnomAD
CA388806289 rs1258204669	122	R>G		No	ClinGen TOPMed
rs1319930234 CA388806292	122	R>T		No	ClinGen gnomAD
CA388806300 rs1175713527	123	E>G		No	ClinGen TOPMed gnomAD
CA388787836 CA7061834 rs760995955	124	D>E		No	ClinGen ExAC gnomAD
CA7061835 rs764543067	125	S>A		No	ClinGen ExAC gnomAD
CA388787860 rs1232544164	128	S>I		No	ClinGen TOPMed
CA388787861 rs1235578862	128	S>R		No	ClinGen gnomAD
rs113697945 CA7061836	129	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1285908061 CA388787865	129	V>L		No	ClinGen gnomAD
CA388787899 rs1442425333	134	K>E		No	ClinGen gnomAD
CA388787905 rs1303777573	134	K>N		No	ClinGen TOPMed gnomAD
TCGA novel	136	N>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388787914 rs1330135286	136	N>D		No	ClinGen gnomAD
rs757768264 CA7061837	137	T>M		No	ClinGen ExAC TOPMed gnomAD
rs765677995 CA7061838	138	C>Y		No	ClinGen ExAC gnomAD
CA7061840 rs754476192	139	W>C		No	ClinGen ExAC gnomAD
CA256481986 rs200015519	140	Q>E		No	ClinGen 1000Genomes
rs780743841 CA7061841	143	C>W		No	ClinGen ExAC gnomAD
CA7061843 rs755671736	146	M>T		No	ClinGen ExAC TOPMed gnomAD
rs759100047 CA7061859	147	I>F		No	ClinGen ExAC gnomAD
CA256482569 rs575984548	147	I>S		No	ClinGen Ensembl
rs759100047 CA256482565	147	I>V		No	ClinGen ExAC gnomAD
CA7061860 rs767080315	149	I>N		No	ClinGen ExAC TOPMed gnomAD
rs1455912130 CA388788656	158	R>C		No	ClinGen gnomAD
CA388788673 rs1360756584	159	T>A		No	ClinGen gnomAD
CA7061865 rs757114371	164	N>D		No	ClinGen ExAC gnomAD
CA388788823 rs1321239940	166	T>K		No	ClinGen gnomAD
CA388788828 rs1321239940	166	T>M		No	ClinGen gnomAD
rs1488747327 CA388788840	168	P>T		No	ClinGen gnomAD
rs1189761010 CA388788861	169	S>C		No	ClinGen TOPMed
CA7061868 rs771862541	170	I>V		No	ClinGen ExAC gnomAD
rs1260800006 CA388788889	171	W>L		No	ClinGen gnomAD
CA7061891 rs781445466	172	D>G		No	ClinGen ExAC TOPMed gnomAD
CA388790326 rs781445466	172	D>V		No	ClinGen ExAC TOPMed gnomAD
CA7061892 rs748395312	174	G>R		No	ClinGen ExAC TOPMed
rs769966720 CA7061893	176	E>G		No	ClinGen ExAC gnomAD
CA388790350 rs1277693835	176	E>K		No	ClinGen gnomAD
rs1206604268 CA388790369	178	F>L		No	ClinGen gnomAD
CA7061894 rs773573327	180	T>A		No	ClinGen ExAC gnomAD
CA7061895 rs147136485	180	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388790383 rs1566345650	181	H>Y		No	ClinGen Ensembl
rs1449532458 CA388790392	182	I>T		No	ClinGen TOPMed
rs200368870 CA7061897	182	I>V		No	ClinGen ExAC TOPMed gnomAD
rs774717751 CA388790408 CA7061899	184	S>R		No	ClinGen ExAC TOPMed gnomAD
CA256484492 rs111860507	186	K>Q		No	ClinGen Ensembl
CA388790429 rs776240132 CA7061901	187	M>I		No	ClinGen ExAC gnomAD
rs372164457 CA7061900	187	M>V		No	ClinGen ESP ExAC gnomAD
CA7061902 rs761560555	188	V>I		No	ClinGen ExAC TOPMed gnomAD
CA7061903 rs376759372	189	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA256484521 rs370026385	193	I>T		No	ClinGen ESP TOPMed gnomAD
CA388790466 rs1165012085	193	I>V		No	ClinGen TOPMed
CA388790485 rs1437485650	196	I>L		No	ClinGen gnomAD
rs1278833289 CA388790516	201	E>A		No	ClinGen gnomAD
CA7061906 rs144303533	201	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs751433790 CA7061907	202	R>C		No	ClinGen ExAC TOPMed gnomAD
CA7061908 rs571800452	202	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748162122 CA7061910	203	E>K		No	ClinGen ExAC
rs147786184 CA7061913	205	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA256484549 rs369176830	205	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs369257799 CA7061915	206	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1307403177 CA388790549	206	G>V		No	ClinGen TOPMed
rs746392573 CA7061916 COSM3793142 COSM3793143	207	E>K	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA7061918 rs772731574	209	V>M		No	ClinGen ExAC TOPMed gnomAD
rs772705654 CA7061921	211	R>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	211	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388790583 rs1216742823	212	S>N		No	ClinGen gnomAD
rs181414356 CA256484581	215	R>L		No	ClinGen 1000Genomes gnomAD
CA388790601 rs181414356	215	R>Q		No	ClinGen 1000Genomes gnomAD
CA7061923 rs760122204	215	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs751332996 CA7061924	216	S>I		No	ClinGen ExAC gnomAD
TCGA novel	219	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754879799 CA7061925	219	G>V		No	ClinGen ExAC gnomAD
rs1216836429 CA388790630	220	M>T		No	ClinGen gnomAD
CA388790627 rs1424800726	220	M>V		No	ClinGen TOPMed
CA388790642 rs1488155514	222	S>A		No	ClinGen gnomAD
CA388790644 rs1379271913	222	S>C		No	ClinGen TOPMed
rs1471031335 CA388790649	223	D>A		No	ClinGen TOPMed
rs1471031335 CA388790650	223	D>G		No	ClinGen TOPMed
rs756184272 CA7061928	225	Q>H		No	ClinGen ExAC gnomAD
TCGA novel	232	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA256484903 rs148458704	232	E>Q		No	ClinGen ESP TOPMed gnomAD
rs779181867 CA7061952	233	L>V		No	ClinGen ExAC TOPMed gnomAD
CA7061953 rs750816159	238	E>D		No	ClinGen ExAC gnomAD
CA388790786 rs1595386966	241	C>R		No	ClinGen Ensembl
CA256484907 rs919985816	242	L>S		No	ClinGen Ensembl
TCGA novel	244	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7061954 rs758802326	246	E>K		No	ClinGen ExAC
rs769248938 CA7061957	251	M>I		No	ClinGen ExAC TOPMed gnomAD
rs747537690 CA7061956	251	M>L		No	ClinGen ExAC gnomAD
rs142598917 CA256484918	251	M>T		No	ClinGen ESP TOPMed
CA7061958 rs777156549	252	Q>H		No	ClinGen ExAC gnomAD
rs1417560297 CA388790867	253	E>K		No	ClinGen gnomAD
rs770550253 CA7061960	254	R>G		No	ClinGen ExAC TOPMed gnomAD
CA256485703 rs918993044	256	V>I		No	ClinGen gnomAD
rs1247070619 CA388791442	257	P>R		No	ClinGen gnomAD
TCGA novel	258	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7061992 rs752030967	258	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1185500000 CA388791464	260	L>F		No	ClinGen gnomAD
TCGA novel CA388791475 rs1220488562	261	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
CA388791481 rs1488480214	262	H>Q		No	ClinGen TOPMed gnomAD
rs1350424596 CA388791479	262	H>R		No	ClinGen TOPMed
CA7061993 rs565872771	262	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA388791483 rs1241843224	263	V>I		No	ClinGen TOPMed
rs767950403 CA7061994	266	R>C		No	ClinGen ExAC gnomAD
rs753227832 CA7061995	267	L>I		No	ClinGen ExAC TOPMed gnomAD
CA388791546 rs1164879370	272	D>N		No	ClinGen gnomAD
rs778427575 CA7061997	273	R>K		No	ClinGen ExAC gnomAD
CA7061998 rs201623121 COSM1365587	274	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA7061999 rs557746382	275	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA388791623 rs1343254276	283	Q>E		No	ClinGen TOPMed
rs140433067 CA7062001	283	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA388791737 rs1406306862	284	K>E		No	ClinGen gnomAD
CA388791744 rs1190322608	284	K>I		No	ClinGen TOPMed
CA7062030 rs759834474	297	E>D		No	ClinGen ExAC gnomAD
rs1435243618 CA388791932	297	E>K		No	ClinGen gnomAD
rs1429180530 CA388792001	300	T>I		No	ClinGen gnomAD
rs760942639 CA7062033	305	K>R		No	ClinGen ExAC gnomAD
CA7062054 rs374255287	308	D>G		No	ClinGen ESP ExAC gnomAD
rs1268650164 CA388793152	308	D>N		No	ClinGen TOPMed gnomAD
rs765671780 CA7062055	309	H>N		No	ClinGen ExAC gnomAD
rs751141161 CA7062056	309	H>R		No	ClinGen ExAC gnomAD
CA388793196 rs1379889329	310	L>I		No	ClinGen TOPMed
CA388793248 rs1308536261	312	D>G		No	ClinGen TOPMed
rs767244032 CA7062058	312	D>N		No	ClinGen ExAC gnomAD
CA7062059 rs151016419	317	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	317	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7062063 rs183455854	320	A>T		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs778710266 CA7062064	321	Q>R		No	ClinGen ExAC gnomAD
CA388793490 rs1298792494	322	M>I		No	ClinGen TOPMed gnomAD
rs1595396369 CA388793514	323	Y>S		No	ClinGen Ensembl
CA7062066 rs758385016	324	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1244851236 CA388793632	328	R>Q		No	ClinGen TOPMed gnomAD
CA7062070 rs768795493	328	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1219265558 CA388793737	334	Q>E		No	ClinGen gnomAD
CA7062073 COSM1202685 rs140870191	335	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA7062075 rs766958662	337	L>Q		No	ClinGen ExAC gnomAD
CA7062076 rs775026005	338	Q>R		No	ClinGen ExAC gnomAD
CA7062077 rs760409659	339	H>Q		No	ClinGen ExAC gnomAD
rs763783547 CA7062078	341	S>G		No	ClinGen ExAC gnomAD
COSM945577 CA7062079 rs753752441	342	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs757085790 CA7062080	343	Y>C		No	ClinGen ExAC gnomAD
rs1595396534 CA388793935	343	Y>D		No	ClinGen Ensembl
rs766324333 CA256490119	346	T>I		No	ClinGen ExAC TOPMed gnomAD
CA7062101 rs766324333	346	T>S		No	ClinGen ExAC TOPMed gnomAD
rs371750292 CA256490123	347	F>S		No	ClinGen ESP TOPMed
TCGA novel	347	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	350	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388795247 rs1482110124	352	V>I		No	ClinGen TOPMed
CA7062104 rs375774505	353	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs752942300 CA7062105	354	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1032606439 CA256490136	354	N>S		No	ClinGen TOPMed
CA388795281 rs1157312546	355	P>A		No	ClinGen gnomAD
CA7062107 rs778004838	355	P>L		No	ClinGen ExAC gnomAD
CA388795326 rs3764124	358	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7062109 rs771400650	359	K>R		No	ClinGen ExAC gnomAD
rs776240214 CA388795423	367	D>N		No	ClinGen ExAC gnomAD
rs776240214 CA7062113	367	D>Y		No	ClinGen ExAC gnomAD
rs1174157001 CA388795480	371	K>R		No	ClinGen gnomAD
rs761372324 CA388795514	374	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA7062116 rs769425622	375	V>L		No	ClinGen ExAC TOPMed gnomAD
rs769425622 CA7062115 COSM550792	375	V>M	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs368810881 CA7062118	377	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA388795559 rs1309339749	381	Q>R		No	ClinGen TOPMed
CA256490169 rs971211908	382	K>N		No	ClinGen gnomAD
rs751479575 CA7062119	383	N>S		No	ClinGen ExAC gnomAD
CA7062120 rs759425072	384	E>D		No	ClinGen ExAC gnomAD
CA7062123 rs756304466	385	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs752707379 CA7062122	385	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs757618335 CA7062126	387	V>G		No	ClinGen ExAC gnomAD
rs754223917 CA7062125	387	V>I		No	ClinGen ExAC TOPMed gnomAD
CA388795604 rs1337732765	388	N>I		No	ClinGen TOPMed gnomAD
CA388795603 rs1337732765	388	N>S		No	ClinGen TOPMed gnomAD
CA7062127 rs377226697	390	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1254013059 CA388795632	392	E>G		No	ClinGen TOPMed
CA388795638 rs1595403836	393	S>A		No	ClinGen Ensembl
rs765901937 CA256490213	393	S>F		No	ClinGen Ensembl
TCGA novel	395	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7062129 rs772640512	396	T>M		No	ClinGen ExAC gnomAD
CA7062131 rs747677241	399	N>S		No	ClinGen ExAC
CA388795697 rs1566358091	401	R>S		No	ClinGen Ensembl
rs769397451 CA7062132	403	N>D		No	ClinGen ExAC gnomAD
rs772886683 TCGA novel CA7062133	403	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC gnomAD
CA388795715 rs1178631339	404	K>R		No	ClinGen Ensembl
rs201765674	409	I>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA388795751 rs1224131523	410	A>T		No	ClinGen TOPMed
rs1254198590 CA388795777	411	K>R		No	ClinGen gnomAD
CA388795782 rs1373784070	412	H>Y		No	ClinGen TOPMed
CA388795818 rs1595406282	417	L>*		No	ClinGen Ensembl
CA7062158 rs772066176	418	R>K		No	ClinGen ExAC gnomAD
COSM227860 CA388795829 rs1168733698	419	A>T	NS [Cosmic]	No	ClinGen cosmic curated TOPMed
rs764263138 CA7062161	421	N>K		No	ClinGen ExAC gnomAD
CA256490774 rs1003432083	422	K>R		No	ClinGen TOPMed
rs776507389 CA7062162	423	E>K		No	ClinGen ExAC gnomAD
CA388795867 rs1439578919	424	A>G		No	ClinGen gnomAD
rs1180099420 CA388795887	427	E>D		No	ClinGen gnomAD
CA7062164 rs372924202	427	E>K		No	ClinGen ESP ExAC gnomAD
rs759209615 CA256490784	429	L>M		No	ClinGen gnomAD
rs758802173 CA7062167	431	R>L		No	ClinGen ExAC TOPMed gnomAD
rs758802173 CA7062166	431	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7062165 rs750881645	431	R>W		No	ClinGen ExAC TOPMed gnomAD
COSM945580 CA7062168 rs752132240	432	T>M	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs777345596 CA7062170	436	I>F		No	ClinGen ExAC gnomAD
rs777345596 CA256490800	436	I>V		No	ClinGen ExAC gnomAD
rs1300087654 CA388795955	438	I>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs376855542 CA7062172	438	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA388795998 rs1313887239	444	H>R		No	ClinGen gnomAD
CA7062204 rs771005814	459	K>R		No	ClinGen ExAC gnomAD
CA256491116 rs758922408	467	A>D		No	ClinGen Ensembl
CA7062210 rs148385873	475	M>L		No	ClinGen ESP ExAC gnomAD
rs1566360270 CA388797330	479	L>P		No	ClinGen Ensembl
rs758127361 CA7062212	481	H>R		No	ClinGen ExAC gnomAD
TCGA novel	484	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388797504 rs1206907510	488	T>A		No	ClinGen TOPMed gnomAD
rs1244999605 CA388797512	489	S>G		No	ClinGen gnomAD
rs375294649 CA7062233	498	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1159137775 CA388797755	505	M>V		No	ClinGen gnomAD
rs147152451 CA7062255	511	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs892141798 CA256491447	512	M>V		No	ClinGen Ensembl
CA388798029 rs1254260574	516	S>T		No	ClinGen gnomAD
rs1341775054 CA388798060	518	S>P		No	ClinGen gnomAD
CA388798098 rs1481932865	521	I>V		No	ClinGen gnomAD
rs1035929081	528	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388798166 rs1196168823	530	M>T		No	ClinGen gnomAD
rs757180622 CA7062259	530	M>V		No	ClinGen ExAC TOPMed gnomAD
CA388798182 rs1374243116	532	Y>F		No	ClinGen gnomAD
CA388798195 rs1475564378	534	P>A		No	ClinGen gnomAD
TCGA novel	537	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs138665383 CA7062260	537	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1195622688 CA388798226	539	M>V		No	ClinGen TOPMed
CA388798252 rs1337966316	542	H>R		No	ClinGen TOPMed
CA256491458 rs867412542	544	T>I		No	ClinGen Ensembl
CA256494356 rs996048946	551	Q>H		No	ClinGen TOPMed gnomAD
CA7062292 rs775102942	553	V>I		No	ClinGen ExAC gnomAD
rs1256172917 CA388799104	556	A>T		No	ClinGen TOPMed
CA7062294 rs768339949	556	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1454725641 CA388799297	568	Q>H		No	ClinGen TOPMed gnomAD
TCGA novel	573	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388799425 rs1337138531	575	H>Q		No	ClinGen TOPMed
rs1213649973 CA388799421	575	H>R		No	ClinGen TOPMed
rs765132181 CA388799514	580	A>G		No	ClinGen ExAC TOPMed gnomAD
CA7062297 rs765132181	580	A>V		No	ClinGen ExAC TOPMed gnomAD
CA388799532 rs1313165815	581	E>G		No	ClinGen gnomAD
rs759630706 CA388799832	585	G>E		No	ClinGen ExAC TOPMed gnomAD
rs759630706 CA7062327	585	G>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	585	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7062329 rs752990616	594	F>L		No	ClinGen ExAC gnomAD
rs756253602 CA7062330	597	L>V		No	ClinGen ExAC gnomAD
CA388800020 rs1452932830	599	L>I		No	ClinGen TOPMed
CA7062331 rs764526695	601	M>L		No	ClinGen ExAC TOPMed gnomAD
rs377274371 CA256495297	604	E>K		No	ClinGen ESP TOPMed gnomAD
rs142677229 CA7062333	607	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1405427649 CA388800146	608	F>V		No	ClinGen gnomAD
rs867500923 CA256495303	609	S>R		No	ClinGen Ensembl
rs1273782836 CA388800176	610	F>L		No	ClinGen gnomAD
CA388800197 rs1364835890	611	E>G		No	ClinGen gnomAD
rs1162612138 CA388800228	613	I>M		No	ClinGen TOPMed
rs779528054 CA7062334	615	M>T		No	ClinGen ExAC TOPMed gnomAD
CA7062335 rs746563007 COSM945582	617	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs755693939 CA256495312	618	G>E		No	ClinGen Ensembl
rs747840424 CA7062338	620	E>K		No	ClinGen ExAC TOPMed gnomAD
CA7062360 rs770735786	621	D>A		No	ClinGen ExAC gnomAD
rs770735786 CA388800312	621	D>G		No	ClinGen ExAC gnomAD
CA7062362 rs745827321	622	S>G		No	ClinGen ExAC gnomAD
rs1402330767 CA388800365	625	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7062363 rs771850019	625	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1566370524 CA388800377	626	R>K		No	ClinGen Ensembl
CA7062365 rs760636923	627	T>M		No	ClinGen ExAC gnomAD
CA388800798 rs1351049791	629	Q>L		No	ClinGen TOPMed
CA7062368 rs762083792	631	L>V		No	ClinGen ExAC gnomAD
rs1251095299 CA388800816	632	A>G		No	ClinGen TOPMed gnomAD
rs765700693 CA7062369	632	A>S		No	ClinGen ExAC gnomAD
rs750695312 CA7062370	633	C>F		No	ClinGen ExAC TOPMed gnomAD
CA7062371 rs763571765	635	K>*		No	ClinGen ExAC gnomAD
CA7062372 rs766789914	635	K>R		No	ClinGen ExAC gnomAD
rs752293552 CA7062373	637	R>C		No	ClinGen ExAC gnomAD
CA7062374 rs755601346	637	R>H		No	ClinGen ExAC gnomAD
rs754057124 CA7062375	638	V>M		No	ClinGen ExAC TOPMed gnomAD
CA7062376 rs753521207	642	S>N		No	ClinGen ExAC gnomAD
CA388800882 rs1235469413	643	P>S		No	ClinGen gnomAD
rs2302757 CA7062377 VAR_020341	644	K>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1177684646 CA388800896	645	G>V		No	ClinGen gnomAD
rs1159984201 CA388800905	646	K>N		No	ClinGen TOPMed gnomAD
rs753547598 CA256495592	647	E>D		No	ClinGen Ensembl
TCGA novel	649	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7062379 rs745639166	651	G>R		No	ClinGen ExAC gnomAD
rs1413516892 CA388800975	656	F>Y		No	ClinGen gnomAD
rs746911068 CA7062382	658	G>R		No	ClinGen ExAC gnomAD
CA7062383 COSM1202686 rs768884886	665	F>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	672	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1241584128 CA388802098	683	S>N		No	ClinGen gnomAD
CA388802130 rs1341671852	686	E>V		No	ClinGen TOPMed gnomAD
rs139078644 CA7062411	687	R>K		No	ClinGen ESP ExAC gnomAD
rs749479685 CA7062413 COSM3813468 COSM3813469	694	Y>C	Variant assessed as Somatic; 4.621e-05 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs905781547 CA256505175	698	A>S		No	ClinGen Ensembl
CA7062415 rs774711421	700	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1450523381 CA388802331	704	M>V		No	ClinGen gnomAD
TCGA novel	705	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	706	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7062417 rs768003702	709	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs768003702 CA7062418	709	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1376857737 CA388802418	711	G>V		No	ClinGen TOPMed
CA388802441 rs1169643962	713	N>S		No	ClinGen gnomAD
CA7062445 rs201177759	729	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388803226 rs1324310675	729	P>T		No	ClinGen TOPMed
rs1186011375 CA388803256	730	G>A		No	ClinGen gnomAD
CA7062446 rs144019898	732	L>M		No	ClinGen ESP ExAC gnomAD
TCGA novel	732	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388803368 rs1472966452	736	I>V		No	ClinGen gnomAD
CA388803468 rs200417550	741	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs945073755 CA256506741	743	D>E		No	ClinGen TOPMed
CA388803524 rs1419529257	745	M>I		No	ClinGen gnomAD
rs1303258098 CA388803565	748	D>N		No	ClinGen TOPMed gnomAD
rs1401192698 CA388803589	749	K>N		No	ClinGen gnomAD
CA256506750 rs1002423593	752	P>L		No	ClinGen TOPMed
TCGA novel	752	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753943089 CA7062450	753	N>S		No	ClinGen ExAC gnomAD
CA7062451 rs757490477	754	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA256506762 rs868298186	756	H>Q		No	ClinGen gnomAD
rs370203390 CA7062453	758	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1256997736 CA388803735	760	A>R		No	ClinGen gnomAD

No associated diseases with Q13619

4 regional properties for Q13619

Type	Name	Position	InterPro Accession
domain	Cullin, N-terminal	63 - 660	IPR001373
conserved_site	Cullin, conserved site	732 - 759	IPR016157
domain	Cullin homology domain	404 - 632	IPR016158
domain	Cullin protein, neddylation domain	688 - 753	IPR019559

Functions

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

5 GO annotations of cellular component

Name	Definition
Cul4-RING E3 ubiquitin ligase complex	A ubiquitin ligase complex in which a cullin from the Cul4 family and a RING domain protein form the catalytic core; substrate specificity is conferred by an adaptor protein.
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.
cullin-RING ubiquitin ligase complex	Any ubiquitin ligase complex in which the catalytic core consists of a member of the cullin family and a RING domain protein; the core is associated with one or more additional proteins that confer substrate specificity.
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.

2 GO annotations of molecular function

Name	Definition
protein-macromolecule adaptor activity	The binding activity of a protein that brings together two or more macromolecules in contact, permitting those molecules to function in a coordinated way. The adaptor can bring together two proteins, or a protein and another macromolecule such as a lipid or a nucleic acid.
ubiquitin protein ligase binding	Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins.

20 GO annotations of biological process

Name	Definition
cell population proliferation	The multiplication or reproduction of cells, resulting in the expansion of a cell population.
cellular response to DNA damage stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism.
cellular response to UV	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers.
DNA repair	The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway.
G1/S transition of mitotic cell cycle	The mitotic cell cycle transition by which a cell in G1 commits to S phase. The process begins with the build up of G1 cyclin-dependent kinase (G1 CDK), resulting in the activation of transcription of G1 cyclins. The process ends with the positive feedback of the G1 cyclins on the G1 CDK which commits the cell to S phase, in which DNA replication is initiated.
hemopoiesis	The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates.
in utero embryonic development	The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus.
intrinsic apoptotic signaling pathway	The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway starts with reception of an intracellular signal (e.g. DNA damage, endoplasmic reticulum stress, oxidative stress etc.), and ends when the execution phase of apoptosis is triggered. The intrinsic apoptotic signaling pathway is crucially regulated by permeabilization of the mitochondrial outer membrane (MOMP).
negative regulation of granulocyte differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of granulocyte differentiation.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of G1/S transition of mitotic cell cycle	Any signalling pathway that increases or activates a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the mitotic cell cycle.
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.
protein ubiquitination	The process in which one or more ubiquitin groups are added to a protein.
regulation of DNA damage checkpoint	Any process that modulates the frequency, rate or extent of a DNA damage checkpoint.
regulation of nucleotide-excision repair	Any process that modulates the frequency, rate or extent of nucleotide-excision repair.
regulation of protein metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a protein.
rhythmic process	Any process pertinent to the generation and maintenance of rhythms in the physiology of an organism.
ribosome biogenesis	A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of ribosome subunits; includes transport to the sites of protein synthesis.
SCF-dependent proteasomal 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, with ubiquitin-protein ligation catalyzed by an SCF (Skp1/Cul1/F-box protein) complex, and mediated by the proteasome.
somatic stem cell population maintenance	Any process by which an organism retains a population of somatic stem cells, undifferentiated cells in the embryo or adult which can undergo unlimited division and give rise to cell types of the body other than those of the germ-line.

6 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q13616	CUL1	Cullin-1	Homo sapiens (Human)	PR
Q13620	CUL4B	Cullin-4B	Homo sapiens (Human)	PR
A2A432	Cul4b	Cullin-4B	Mus musculus (Mouse)	PR
Q3TCH7	Cul4a	Cullin-4A	Mus musculus (Mouse)	PR
Q17392	cul-4	Cullin-4	Caenorhabditis elegans	PR
P0CH31	At1g43140	Putative cullin-like protein 1	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MADEAPRKGS	FSALVGRTNG	LTKPAALAAA	PAKPGGAGGS	KKLVIKNFRD	RPRLPDNYTQ
70	80	90	100	110	120
DTWRKLHEAV	RAVQSSTSIR	YNLEELYQAV	ENLCSHKVSP	MLYKQLRQAC	EDHVQAQILP
130	140	150	160	170	180
FREDSLDSVL	FLKKINTCWQ	DHCRQMIMIR	SIFLFLDRTY	VLQNSTLPSI	WDMGLELFRT
190	200	210	220	230	240
HIISDKMVQS	KTIDGILLLI	ERERSGEAVD	RSLLRSLLGM	LSDLQVYKDS	FELKFLEETN
250	260	270	280	290	300
CLYAAEGQRL	MQEREVPEYL	NHVSKRLEEE	GDRVITYLDH	STQKPLIACV	EKQLLGEHLT
310	320	330	340	350	360
AILQKGLDHL	LDENRVPDLA	QMYQLFSRVR	GGQQALLQHW	SEYIKTFGTA	IVINPEKDKD
370	380	390	400	410	420
MVQDLLDFKD	KVDHVIEVCF	QKNERFVNLM	KESFETFINK	RPNKPAELIA	KHVDSKLRAG
430	440	450	460	470	480
NKEATDEELE	RTLDKIMILF	RFIHGKDVFE	AFYKKDLAKR	LLVGKSASVD	AEKSMLSKLK
490	500	510	520	530	540
HECGAAFTSK	LEGMFKDMEL	SKDIMVHFKQ	HMQNQSDSGP	IDLTVNILTM	GYWPTYTPME
550	560	570	580	590	600
VHLTPEMIKL	QEVFKAFYLG	KHSGRKLQWQ	TTLGHAVLKA	EFKEGKKEFQ	VSLFQTLVLL
610	620	630	640	650	660
MFNEGDGFSF	EEIKMATGIE	DSELRRTLQS	LACGKARVLI	KSPKGKEVED	GDKFIFNGEF
670	680	690	700	710	720
KHKLFRIKIN	QIQMKETVEE	QVSTTERVFQ	DRQYQIDAAI	VRIMKMRKTL	GHNLLVSELY
730	740	750
NQLKFPVKPG	DLKKRIESLI	DRDYMERDKD	NPNQYHYVA