AiPD: Autoinhibited Protein Database

Q5TAQ9

Gene name	DCAF8 (H326, WDR42A)
Protein name	DDB1- and CUL4-associated factor 8
Names	WD repeat-containing protein 42A
Species	Homo sapiens (Human)
KEGG Pathway	hsa:50717
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

96-169 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

96-169 (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

2 structures for Q5TAQ9

Entry ID	Method	Resolution	Chain	Position	Source
3I8E	X-ray	340 A	C/D	153-165	PDB
AF-Q5TAQ9-F1	Predicted				AlphaFoldDB

328 variants for Q5TAQ9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA1196973 RCV002550661 COSM898241 RCV000994149 rs200043571	117	R>C	endometrium Inborn genetic diseases [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
CA343231582 RCV001195846 rs1228444617	151	R>C	Giant axonal neuropathy 2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA156437 VAR_071265 RCV000119848 rs587777425	317	R>C	Giant axonal neuropathy 2 GAN2; interaction with DDB1 is decreased [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
CA343237893 rs1157383925	3	S>R		No	ClinGen gnomAD
rs1415727667 CA343237833	4	K>N		No	ClinGen TOPMed
rs1473967773 CA343237849	4	K>R		No	ClinGen gnomAD
CA343237828 CA343237827 rs1258601539	5	G>R		No	ClinGen TOPMed gnomAD
CA1197030 rs747279847	9	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs778633124 CA1197029	10	G>D		No	ClinGen ExAC gnomAD
rs756929378 CA343237578	11	R>K		No	ClinGen ExAC gnomAD
rs756929378 CA1197028	11	R>T		No	ClinGen ExAC gnomAD
CA343237461 rs1401222075	15	A>G		No	ClinGen TOPMed
rs1319784298 CA343235330	18	S>N		No	ClinGen gnomAD
CA1197012 rs775777406	24	E>K		No	ClinGen ExAC gnomAD
rs772461840 CA1197011	25	E>A		No	ClinGen ExAC gnomAD
CA343235107 rs1443219783	26	M>T		No	ClinGen gnomAD
CA1197009 rs748935643	29	A>T		No	ClinGen ExAC gnomAD
CA31503393 rs994999239	29	A>V		No	ClinGen TOPMed
CA343234907 rs1460169855	32	G>R		No	ClinGen gnomAD
TCGA novel	33	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1197008 rs777366581	34	E>Q		No	ClinGen ExAC gnomAD
CA343234835 rs1171585767	35	T>I		No	ClinGen gnomAD
rs868580381 CA31503387	36	S>A		No	ClinGen Ensembl
rs1192369218 CA343234780	37	S>L		No	ClinGen gnomAD
TCGA novel	39	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA31503384 rs1014610787	39	I>T		No	ClinGen Ensembl
CA1197006 rs201056171	40	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA343234695 rs1252263555	41	V>L		No	ClinGen gnomAD
CA343234668 rs1459054370	42	E>D		No	ClinGen gnomAD
CA1197004 rs754933953	43	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1168255767 CA343234629	45	D>N		No	ClinGen TOPMed
rs1372136970 CA343234577	47	S>R		No	ClinGen TOPMed
CA343234567 rs1203569092	48	L>V		No	ClinGen TOPMed gnomAD
CA16042299 rs1057518253 RCV000413871	51	T>I		No	ClinGen ClinVar Ensembl dbSNP
CA31503376 rs749916823	53	D>G		No	ClinGen Ensembl
CA343234350 rs1307082554	56	G>D		No	ClinGen gnomAD
CA1197003 rs201644816	58	N>I		No	ClinGen 1000Genomes ExAC gnomAD
CA343234311 COSM1203077 rs201644816	58	N>S	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs147997856 COSM424318 CA1197001	59	R>C	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs569565411 CA1197000	59	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs569565411 CA343234289	59	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1300302190 CA343234265	61	S>N		No	ClinGen TOPMed
rs1228735064 CA343234274	61	S>R		No	ClinGen TOPMed
CA1196999 rs765505834	65	R>G		No	ClinGen ExAC TOPMed gnomAD
CA1196998 rs761989923	65	R>Q		No	ClinGen ExAC gnomAD
CA343234158 rs1461808938	67	T>A		No	ClinGen gnomAD
CA343234131 rs1198899762	68	D>N		No	ClinGen gnomAD
rs780857370 CA31503367	69	T>I		No	ClinGen gnomAD
CA343234083 rs780857370	69	T>R		No	ClinGen gnomAD
CA343234009 rs1434777731	72	S>L		No	ClinGen gnomAD
rs1208295999 COSM1317642 CA343234017	72	S>P	Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA1196997 rs754038372	73	G>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	77	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343233785 rs1319327817	79	D>E		No	ClinGen gnomAD
CA31503363 rs756910442	79	D>G		No	ClinGen Ensembl
CA343233821 rs1441398459	79	D>N		No	ClinGen gnomAD
CA1196994 rs555946382	81	M>I		No	ClinGen 1000Genomes ExAC gnomAD
CA343233721 rs1479571934	82	E>K		No	ClinGen gnomAD
rs776038139 CA1196993	83	D>N		No	ClinGen ExAC gnomAD
CA343233313 rs1557836377	93	N>S		No	ClinGen Ensembl
CA343233294 rs1213347937	94	R>G		No	ClinGen gnomAD
rs371810218 CA1196992	94	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs772868623 CA1196990	95	V>I		No	ClinGen ExAC gnomAD
CA1196989 rs191317846	96	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1196988 rs747789970	97	D>H		No	ClinGen ExAC TOPMed gnomAD
CA343233144 rs747789970	97	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA1196987 rs780736325	98	R>C		No	ClinGen ExAC TOPMed gnomAD
CA343233101 rs780736325	98	R>G		No	ClinGen ExAC TOPMed gnomAD
rs368652723 CA343233096	98	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA1196986 rs368652723	98	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1315214708 CA343233079	99	S>P		No	ClinGen TOPMed gnomAD
rs751240226 CA31503348	102	E>*		No	ClinGen ExAC TOPMed gnomAD
rs751240226 CA1196985	102	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs779999241 CA1196984	103	E>D		No	ClinGen ExAC gnomAD
CA343232921 rs1467692735	103	E>K		No	ClinGen TOPMed
rs1171139063 CA343232851	104	E>D		No	ClinGen gnomAD
rs1383271727 CA343232803	106	E>K		No	ClinGen TOPMed
CA31503342 rs144631187	109	E>Q		No	ClinGen Ensembl
rs199748027 RCV000954584	109	E>missing		No	ClinVar dbSNP
rs750184781 CA343232524	115	R>P		No	ClinGen ExAC TOPMed gnomAD
CA1196975 rs750184781	115	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs377306445 CA1196976	115	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs762773509 CA1196974	116	R>C		No	ClinGen ExAC TOPMed gnomAD
CA31503332 rs376611740	116	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs146600574 CA1196972	117	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs936764516 CA31503320	119	Q>H		No	ClinGen Ensembl
CA1196971 rs764122154	119	Q>K		No	ClinGen ExAC gnomAD
CA1196970 rs199677055	120	R>C		No	ClinGen 1000Genomes ExAC gnomAD
rs1315692521 CA343232401 COSM3802475	120	R>H	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs774760051 CA1196966	122	R>P		No	ClinGen ExAC TOPMed gnomAD
CA1196967 rs774760051	122	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs768015097 CA1196968	122	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1310764783 CA343232325	123	A>T		No	ClinGen gnomAD
rs890486134 CA31503313	124	N>D		No	ClinGen TOPMed gnomAD
CA1196964 rs186360966	125	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs186360966 CA1196965	125	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146888991 CA1196963	125	R>H		No	ClinGen ESP ExAC gnomAD
rs768081133 CA1196962	130	S>P		No	ClinGen ExAC TOPMed gnomAD
CA1196960 rs141055794	131	D>E		No	ClinGen ESP ExAC TOPMed
CA1196961 rs746477428	131	D>Y		No	ClinGen ExAC gnomAD
TCGA novel	133	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772114617 CA1196958	134	R>W		No	ClinGen ExAC TOPMed gnomAD
rs745787256 CA1196957	135	A>S		No	ClinGen ExAC gnomAD
CA31503301 rs765171601	137	E>G		No	ClinGen Ensembl
CA31503298 rs370374204	138	D>G		No	ClinGen ESP
rs199572155 CA1196954	140	V>A		No	ClinGen ExAC gnomAD
CA1196955 rs757088084	140	V>L		No	ClinGen ExAC TOPMed gnomAD
CA1196952 rs756165555	141	S>A		No	ClinGen ExAC gnomAD
CA343231786 rs1334652694	142	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs752759630 CA1196951	148	P>S		No	ClinGen ExAC TOPMed gnomAD
CA343231628 rs1174255264	149	R>*		No	ClinGen TOPMed gnomAD
TCGA novel	149	R>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343231630 rs1174255264	149	R>G		No	ClinGen TOPMed gnomAD
rs755532127 CA1196949	149	R>Q		No	ClinGen ExAC gnomAD
CA343231369 rs1396581764	156	P>L		No	ClinGen gnomAD
rs1326574978 CA343231301	159	R>W		No	ClinGen gnomAD
CA343231221 rs1269993925	161	R>Q		No	ClinGen TOPMed
rs763263130 CA1196946	166	S>G		No	ClinGen ExAC gnomAD
rs539129422 CA31503283	167	A>S		No	ClinGen Ensembl
CA1196945 rs776167874	168	R>H		No	ClinGen ExAC TOPMed gnomAD
CA343230948 rs776167874	168	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1373868718 CA343230826	171	Y>S		No	ClinGen gnomAD
rs1192540937 CA343230752	172	E>D		No	ClinGen gnomAD
rs1212949058 CA343230707	174	C>S		No	ClinGen TOPMed
CA1196944 rs763743862	176	A>S		No	ClinGen ExAC gnomAD
TCGA novel	176	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343230621 rs1247073753	177	R>T		No	ClinGen TOPMed
CA1196941 COSM107366 rs141233812	184	R>C	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1196940 COSM3376803 rs770987180	184	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs373676811 CA1196939	187	H>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs770874428 CA1196938	187	H>R		No	ClinGen ExAC gnomAD
CA343230112 rs1303532877	191	G>S		No	ClinGen TOPMed gnomAD
CA343230058 rs1368700121	192	H>Y		No	ClinGen gnomAD
CA1196935 rs201559324	193	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA1196934 rs201559324	193	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1571097455 CA343229895	198	T>P		No	ClinGen Ensembl
rs781377478 CA343229867	199	L>V		No	ClinGen ExAC TOPMed gnomAD
rs755017154 CA1196932	204	R>C		No	ClinGen ExAC gnomAD
COSM1639577 rs752089736 CA1196931	204	R>H	stomach [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs750731679 CA1196928	207	W>C		No	ClinGen ExAC gnomAD
CA1196925 rs752262535	210	S>T		No	ClinGen ExAC gnomAD
TCGA novel	211	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375267419 CA1196924	212	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA343229465 rs1281259086	213	D>N		No	ClinGen gnomAD
CA31503249 rs1027406725	214	D>A		No	ClinGen Ensembl
CA343229341 rs1571097365	217	V>G		No	ClinGen Ensembl
CA343229359 rs1280332940	217	V>M		No	ClinGen gnomAD
rs1571097358 CA343229325	218	V>G		No	ClinGen Ensembl
rs769450532 CA1196919	223	V>A		No	ClinGen ExAC
rs769450532 CA1196918	223	V>G		No	ClinGen ExAC
CA1196920 rs762984690	223	V>L		No	ClinGen ExAC
CA31503238 rs71628169	224	R>P		No	ClinGen ExAC TOPMed gnomAD
COSM3705160 CA1196916 rs71628169	224	R>Q	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	224	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343229121 rs964936301	225	R>P		No	ClinGen TOPMed gnomAD
CA31503234 rs964936301	225	R>Q		No	ClinGen TOPMed gnomAD
rs564633806 CA343229124	225	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA343229102 rs1408192321	226	Q>*		No	ClinGen gnomAD
rs868661735 CA31503232	227	P>S		No	ClinGen TOPMed
rs758971324 CA343228986 CA1196912	230	D>E		No	ClinGen ExAC gnomAD
TCGA novel	236	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1196911 rs750873162	237	S>N		No	ClinGen ExAC TOPMed gnomAD
CA343228502 rs1423682008	241	Q>H		No	ClinGen gnomAD
CA343225434 rs1468877825	243	K>T		No	ClinGen gnomAD
CA1196869 rs756512100	248	S>G		No	ClinGen ExAC gnomAD
CA1196868 rs746687484	249	G>C		No	ClinGen ExAC
CA31502978 rs577012239	252	T>A		No	ClinGen 1000Genomes
CA31502974 rs997289511	255	M>T		No	ClinGen Ensembl
rs749834716 CA1196865	260	G>W		No	ClinGen ExAC
rs1557835383 CA343224816	263	R>Q		No	ClinGen Ensembl
rs940261478 CA31502966	264	V>I		No	ClinGen TOPMed gnomAD
rs1443698978 CA343224792	265	A>T		No	ClinGen gnomAD
CA343224706 rs1557835361	267	L>P		No	ClinGen Ensembl
CA343224645 rs1293247988	269	A>S		No	ClinGen gnomAD
RCV001223235 CA1196862 rs753753498	270	T>I		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1355919026 CA343224606	271	Q>*		No	ClinGen gnomAD
rs763907889 CA1196861	271	Q>R		No	ClinGen ExAC gnomAD
rs760414495 CA1196860	272	C>R		No	ClinGen ExAC gnomAD
CA31502959 rs1045948788	275	N>D		No	ClinGen gnomAD
CA343224280 rs1454615161	278	R>H		No	ClinGen TOPMed gnomAD
rs1189242852 CA343224156	282	H>D		No	ClinGen gnomAD
rs1481515395 CA343224142	282	H>L		No	ClinGen gnomAD
CA343224073 rs1205424160	285	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA343223022 rs1228226674	290	A>P		No	ClinGen gnomAD
rs1327584779 CA343222934	293	P>S		No	ClinGen TOPMed
CA1196844 rs753796531	294	D>E		No	ClinGen ExAC gnomAD
CA343222836 rs1414841039	295	S>F		No	ClinGen gnomAD
CA31502624 rs774531050	298	T>M		No	ClinGen gnomAD
rs374705027 CA343222409	307	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs374705027 CA1196842	307	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1471527503 CA343222341	310	T>S		No	ClinGen gnomAD
rs1424639357 CA343222228	315	Q>K		No	ClinGen gnomAD
CA31502613 COSM2085416 rs954409145	317	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA343222142 rs954409145	317	R>L		No	ClinGen TOPMed gnomAD
CA343222161 rs587777425	317	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1261892205 CA343222123	318	P>Q		No	ClinGen gnomAD
CA343222106 rs1431324556 COSM898234	319	A>V	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA343222081 rs1327588458	320	S>L		No	ClinGen TOPMed gnomAD
TCGA novel	324	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343280032 rs1386064868	331	K>N		No	ClinGen gnomAD
rs1571087644 CA343280008	332	V>G		No	ClinGen Ensembl
TCGA novel	335	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343279932 rs1477780092	336	T>A		No	ClinGen gnomAD
rs945161039 CA31517062	336	T>M		No	ClinGen TOPMed
rs750599788 CA1196816	338	Y>C		No	ClinGen ExAC gnomAD
CA343279823 rs1397492263	340	N>T		No	ClinGen gnomAD
rs200843224 RCV000994148 CA1196814	343	N>S		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA1196813 rs777165555	344	T>I		No	ClinGen ExAC gnomAD
CA343279701 rs1197133927	344	T>S		No	ClinGen gnomAD
CA343279680 rs1191060362	345	H>P		No	ClinGen TOPMed
CA31517045 rs867007346	345	H>Y		No	ClinGen Ensembl
rs1273200013 CA343279644	346	Q>H		No	ClinGen gnomAD
CA31517042 rs778731754	348	A>V		No	ClinGen Ensembl
CA1196811 rs145344286	351	G>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	352	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1196810 rs773878796	352	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs748922820 CA1196808	353	D>G		No	ClinGen ExAC gnomAD
CA1196809 rs770635527	353	D>N		No	ClinGen ExAC gnomAD
CA343278183 rs1260336647	357	R>S		No	ClinGen TOPMed
TCGA novel	362	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343278109 rs1237486327	367	N>S		No	ClinGen gnomAD
CA1196785 rs150468383	370	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs150468383 CA343278089	370	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs746909756 CA1196784	370	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	372	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs966854611 CA31514916	377	C>Y		No	ClinGen TOPMed
CA343278022 rs1209085927	379	H>Q		No	ClinGen gnomAD
TCGA novel	379	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343277950 rs1290945285	388	A>P		No	ClinGen gnomAD
CA31514617 rs752625360	394	V>G		No	ClinGen Ensembl
rs1173427133 CA343277823	398	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1433775893 CA343277666	403	L>R		No	ClinGen gnomAD
rs1233001412 CA343277636	405	S>T		No	ClinGen TOPMed
TCGA novel	409	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775573215 CA1196745	415	N>D		No	ClinGen ExAC gnomAD
CA343277504 rs1428623735	415	N>I		No	ClinGen TOPMed gnomAD
CA343277505 rs1428623735	415	N>S		No	ClinGen TOPMed gnomAD
CA1196744 rs772202619	416	S>F		No	ClinGen ExAC gnomAD
rs772202619 CA343277498	416	S>Y		No	ClinGen ExAC gnomAD
rs774334380 CA1196742	417	S>F		No	ClinGen ExAC gnomAD
rs376443695 CA1196741	419	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs376443695 CA1196740	419	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1477155036 CA343277466	419	S>R		No	ClinGen gnomAD
CA343277479 rs1424122101	419	S>R		No	ClinGen gnomAD
rs1254321560 CA343277463	420	D>N		No	ClinGen gnomAD
TCGA novel	422	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343277416 rs1571081637	423	Q>P		No	ClinGen Ensembl
CA1196737 rs748162409	425	V>I		No	ClinGen ExAC gnomAD
rs1212813308 CA343277197	436	T>R		No	ClinGen gnomAD
rs762593998 CA1196723 COSM1203081	440	V>I	large_intestine prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1557829287 CA343276070	441	N>S		No	ClinGen Ensembl
TCGA novel	448	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	455	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200095819 CA31513650	456	C>R		No	ClinGen 1000Genomes
rs1557829267 CA343275810	459	I>V		No	ClinGen Ensembl
CA1196717 rs142684645	461	L>F		No	ClinGen ESP ExAC gnomAD
CA1196716 rs780377544	465	S>L		No	ClinGen ExAC gnomAD
CA343275670 rs1248969551	469	I>M		No	ClinGen gnomAD
rs144537625 CA1196713	470	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs956730220 CA31513609	475	G>R		No	ClinGen Ensembl
CA343275580 rs1557829230	476	D>N		No	ClinGen Ensembl
rs755879191 CA1196712	477	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1244854061 CA343275531	479	G>V		No	ClinGen gnomAD
COSM530121 CA1196710 rs767163915	480	V>M	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA343274416 rs1407064278	481	V>I		No	ClinGen TOPMed
rs751100608 CA1196690	483	C>Y		No	ClinGen ExAC gnomAD
CA343274339 rs1571077108	485	E>D		No	ClinGen Ensembl
CA343274316 rs1571077105	487	H>P		No	ClinGen Ensembl
CA343274286 rs1571077100	489	H>P		No	ClinGen Ensembl
CA343274280 rs1432223845	489	H>Q		No	ClinGen gnomAD
CA1196687 rs750346765	492	V>M		No	ClinGen ExAC TOPMed gnomAD
CA343274192 rs1193968171	500	H>R		No	ClinGen gnomAD
rs1347043896 CA343274129	504	I>V		No	ClinGen gnomAD
CA343274110 rs1571077054	505	W>G		No	ClinGen Ensembl
rs1293047455 CA343274073	507	P>H		No	ClinGen TOPMed
rs1330708266 CA343274039	510	E>V		No	ClinGen gnomAD
CA1196682 rs760937270	516	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1194383875 CA343273983	519	K>T		No	ClinGen TOPMed
CA343273979 rs1411924175	520	D>N		No	ClinGen gnomAD
CA1196661 rs759600036	522	I>M		No	ClinGen ExAC gnomAD
CA1196658 rs771628518	527	R>Q		No	ClinGen ExAC gnomAD
CA31511461 rs910347725	527	R>W		No	ClinGen TOPMed gnomAD
rs763536921 CA1196657	528	E>Q		No	ClinGen ExAC gnomAD
CA1196656 rs773765844	531	E>D		No	ClinGen ExAC gnomAD
rs1283877248 CA343273857	535	H>Q		No	ClinGen gnomAD
CA1196655 rs770166441	535	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA343273854 rs1218576549	536	Q>E		No	ClinGen TOPMed
CA1196653 rs779709016	539	L>V		No	ClinGen ExAC gnomAD
CA343273799 rs1480267923	543	H>Q		No	ClinGen TOPMed
CA343273780 rs1427450429	546	W>*		No	ClinGen TOPMed
CA343273747 rs1417418042	550	H>R		No	ClinGen TOPMed
CA343273736 rs1051698705	551	H>Q		No	ClinGen TOPMed gnomAD
CA343273717 rs1322958642	554	Q>H		No	ClinGen gnomAD
CA1196651 rs745317914	556	R>C		No	ClinGen ExAC gnomAD
rs778391071 CA1196650	556	R>H		No	ClinGen ExAC gnomAD
CA343273702 rs1315722812	557	H>Y		No	ClinGen gnomAD
rs142007100 CA1196649	559	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs201359662 CA31511406	559	R>W		No	ClinGen TOPMed gnomAD
TCGA novel	560	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1196634 rs745507749	560	R>H		No	ClinGen ExAC gnomAD
CA1196635 rs371987013	560	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA1196633 rs553804996	562	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs770386145 CA1196632	565	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1206409880 CA343273632	567	G>R		No	ClinGen gnomAD
rs777706494 CA1196630	571	A>E		No	ClinGen ExAC gnomAD
rs61741888 CA31511073	571	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs61741888 CA31511076	571	A>T		No	ClinGen TOPMed
rs777706494 CA343273571	571	A>V		No	ClinGen ExAC gnomAD
rs1030419444 CA31511064	574	D>H		No	ClinGen TOPMed
CA1196628 rs748037344	576	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1369107303 CA343273494	577	P>A		No	ClinGen TOPMed gnomAD
rs1571075924 CA343273487	577	P>L		No	ClinGen Ensembl
TCGA novel	578	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343273468 rs1356679712	578	S>R		No	ClinGen TOPMed
rs997384662 CA31511063	578	S>T		No	ClinGen TOPMed
CA343273450 rs1402743124	579	S>C		No	ClinGen gnomAD
CA343273465 rs1282298579	579	S>T		No	ClinGen gnomAD
CA343273395 rs1461372344	581	D>E		No	ClinGen TOPMed gnomAD
CA343273414 rs1308114906	581	D>N		No	ClinGen TOPMed gnomAD
CA31511046 rs867856057	583	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA343273328 rs1424227537	585	E>K		No	ClinGen gnomAD
CA343273250 rs1442666895	588	G>S		No	ClinGen TOPMed
CA343273234 rs1163871338	588	G>V		No	ClinGen TOPMed
rs766602529 CA343273176	591	R>P		No	ClinGen ExAC TOPMed gnomAD
rs766602529 CA1196624	591	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA343273184 rs1479579563	591	R>W		No	ClinGen gnomAD
CA343273110 rs1466236366	595	M>L		No	ClinGen TOPMed
TCGA novel	596	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

1 associated diseases with Q5TAQ9

[MIM: 610100]: Giant axonal neuropathy 2, autosomal dominant (GAN2)

An autosomal dominant peripheral axonal neuropathy characterized by onset of distal sensory impairment with lower extremity muscle weakness and atrophy after the second decade. Clinical features include foot deformities apparent in childhood, and cardiomyopathy in severely affected individuals. Sural nerve biopsy shows giant axonal swelling with neurofilament accumulation. {ECO:0000269|PubMed:24500646}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal dominant peripheral axonal neuropathy characterized by onset of distal sensory impairment with lower extremity muscle weakness and atrophy after the second decade. Clinical features include foot deformities apparent in childhood, and cardiomyopathy in severely affected individuals. Sural nerve biopsy shows giant axonal swelling with neurofilament accumulation. {ECO:0000269|PubMed:24500646}. Note=The disease is caused by variants affecting the gene represented in this entry.

7 regional properties for Q5TAQ9

Type	Name	Position	InterPro Accession
repeat	WD40 repeat	182 - 221	IPR001680-1
repeat	WD40 repeat	224 - 266	IPR001680-2
repeat	WD40 repeat	270 - 312	IPR001680-3
repeat	WD40 repeat	320 - 360	IPR001680-4
repeat	WD40 repeat	375 - 415	IPR001680-5
repeat	WD40 repeat	421 - 463	IPR001680-6
repeat	WD40 repeat	466 - 506	IPR001680-7

Functions

		Description
EC Number
Subcellular Localization	Nucleus Cytoplasm	It shuttles between the nucleus and the cytoplasm Nuclear import is mediated by KPNA1 and KPNB1 under the regulation of nuclear GTPase RAN Nuclear export to the cytoplasm is XPO1 dependent
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 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.
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.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
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.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name	Definition
protein ubiquitination	The process in which one or more ubiquitin groups are added to a protein.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q58WW2	DCAF6	DDB1- and CUL4-associated factor 6	Homo sapiens (Human)	PR
A6NGE4	DCAF8L1	DDB1- and CUL4-associated factor 8-like protein 1	Homo sapiens (Human)	PR
P0C7V8	DCAF8L2	DDB1- and CUL4-associated factor 8-like protein 2	Homo sapiens (Human)	PR
Q9DC22	Dcaf6	DDB1- and CUL4-associated factor 6	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MSSKGSSTDG	RTDLANGSLS	SSPEEMSGAE	EGRETSSGIE	VEASDLSLSL	TGDDGGPNRT
70	80	90	100	110	120
STESRGTDTE	SSGEDKDSDS	MEDTGHYSIN	DENRVHDRSE	EEEEEEEEEE	EEQPRRRVQR
130	140	150	160	170	180
KRANRDQDSS	DDERALEDWV	SSETSALPRP	RWQALPALRE	RELGSSARFV	YEACGARVFV
190	200	210	220	230	240
QRFRLQHGLE	GHTGCVNTLH	FNQRGTWLAS	GSDDLKVVVW	DWVRRQPVLD	FESGHKSNVF
250	260	270	280	290	300
QAKFLPNSGD	STLAMCARDG	QVRVAELSAT	QCCKNTKRVA	QHKGASHKLA	LEPDSPCTFL
310	320	330	340	350	360
SAGEDAVVFT	IDLRQDRPAS	KLVVTKEKEK	KVGLYTIYVN	PANTHQFAVG	GRDQFVRIYD
370	380	390	400	410	420
QRKIDENENN	GVLKKFCPHH	LVNSESKANI	TCLVYSHDGT	ELLASYNDED	IYLFNSSHSD
430	440	450	460	470	480
GAQYVKRYKG	HRNNATVKGV	NFYGPKSEFV	VSGSDCGHIF	LWEKSSCQII	QFMEGDKGGV
490	500	510	520	530	540
VNCLEPHPHL	PVLATSGLDH	DVKIWAPTAE	ASTELTGLKD	VIKKNKRERD	EDSLHQTDLF
550	560	570	580	590
DSHMLWFLMH	HLRQRRHHRR	WREPGVGATD	ADSDESPSSS	DTSDEEEGPD	RVQCMPS