AiPD: Autoinhibited Protein Database

Q8N461

Gene name	FBXL16 (C16orf22, FBL16)
Protein name	F-box/LRR-repeat protein 16
Names	F-box and leucine-rich repeat protein 16
Species	Homo sapiens (Human)
KEGG Pathway	hsa:146330
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

10-81 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

10-81 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q8N461

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8N461-F1	Predicted				AlphaFoldDB

289 variants for Q8N461

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs745311378 CA7788517	2	S>L		No	ClinGen ExAC TOPMed gnomAD
CA394082454 rs745311378	2	S>W		No	ClinGen ExAC TOPMed gnomAD
CA276498609 rs913234122	4	P>L		No	ClinGen TOPMed gnomAD
rs1194024904 CA394082395	5	G>D		No	ClinGen gnomAD
rs770390917 CA7788515	7	D>N		No	ClinGen ExAC TOPMed gnomAD
CA7788514 rs746640728	8	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1374954732 CA394082320	9	D>A		No	ClinGen gnomAD
rs1374954732 CA394082318	9	D>G		No	ClinGen gnomAD
CA394082327 rs777594479	9	D>H		No	ClinGen ExAC TOPMed gnomAD
rs777594479 CA7788513	9	D>N		No	ClinGen ExAC TOPMed gnomAD
CA394082305 rs1308859725	10	P>S		No	ClinGen gnomAD
CA394082290 rs1442074827	11	K>Q		No	ClinGen gnomAD
CA394082271 rs1373680858	12	P>T		No	ClinGen gnomAD
CA7788512 rs758796132	13	P>L		No	ClinGen ExAC TOPMed gnomAD
CA394082194 rs1390886520	16	P>L		No	ClinGen TOPMed
rs1345202574 CA394082190	17	R>*		No	ClinGen gnomAD
CA7788511 rs567312325	17	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA394082152 rs1368139592	20	L>M		No	ClinGen gnomAD
CA394082144 rs1379271737	20	L>R		No	ClinGen gnomAD
CA7788509 rs755499160	24	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1168811071 CA394082092	25	G>R		No	ClinGen TOPMed gnomAD
rs756235345 CA7788506	29	G>S		No	ClinGen ExAC TOPMed gnomAD
CA394082038 rs1218006539	29	G>V		No	ClinGen gnomAD
CA394082024 rs1235341846	31	G>V		No	ClinGen gnomAD
CA276498567 rs191802593	32	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD
CA394081940 rs1363259575	39	T>M		No	ClinGen TOPMed gnomAD
CA394081924 rs1397563042	42	T>N		No	ClinGen gnomAD
rs1359370789 CA394081918	43	K>R		No	ClinGen gnomAD
CA394081903 rs1313063809	45	R>C		No	ClinGen gnomAD
CA276498565 rs989230796	45	R>H		No	ClinGen TOPMed
CA394081881 rs1596573684	48	Q>P		No	ClinGen Ensembl
rs762666366 CA7788503	51	P>H		No	ClinGen ExAC gnomAD
CA394081862 rs762666366	51	P>L		No	ClinGen ExAC gnomAD
rs1375637378 CA394081866	51	P>S		No	ClinGen gnomAD
rs764997167 CA7788501	52	P>L		No	ClinGen ExAC gnomAD
rs764997167 CA394081858	52	P>Q		No	ClinGen ExAC gnomAD
CA394081853 rs1368712285	53	P>L		No	ClinGen TOPMed
rs759489466 CA7788500	53	P>S		No	ClinGen ExAC TOPMed gnomAD
CA394081850 rs1458744077	54	T>A		No	ClinGen TOPMed
CA394081846 rs1262571141	54	T>I		No	ClinGen gnomAD
CA394081851 rs1458744077	54	T>P		No	ClinGen TOPMed
CA394081849 rs1458744077	54	T>S		No	ClinGen TOPMed
CA394081847 rs1262571141	54	T>S		No	ClinGen gnomAD
CA276498547 rs776484818	55	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1461433594 CA394081844	55	L>H		No	ClinGen TOPMed
CA7788499 rs776484818	55	L>I		No	ClinGen ExAC TOPMed gnomAD
CA394081843 rs1461433594	55	L>P		No	ClinGen TOPMed
rs1332608521 CA394081841	56	P>S		No	ClinGen TOPMed
rs1596573640 CA394081827	58	P>A		No	ClinGen Ensembl
CA394081805 rs1308495720	61	A>V		No	ClinGen gnomAD
rs1298306492 CA394081804	62	A>T		No	ClinGen TOPMed gnomAD
rs994541887 CA276498538	62	A>V		No	ClinGen Ensembl
CA394081781 rs1014528416	66	R>P		No	ClinGen TOPMed gnomAD
CA276498529 rs1014528416	66	R>Q		No	ClinGen TOPMed gnomAD
CA7788497 rs770520626 COSM3691172	66	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1024985452 CA276498526	67	A>V		No	ClinGen TOPMed
CA7788496 rs746548753	68	A>D		No	ClinGen ExAC gnomAD
CA394081770 rs746548753	68	A>V		No	ClinGen ExAC gnomAD
CA7788494 rs771865644	70	A>G		No	ClinGen ExAC gnomAD
rs771865644 CA7788495	70	A>V		No	ClinGen ExAC gnomAD
rs1399571627 CA394081760	71	G>R		No	ClinGen gnomAD
CA394081751 rs1301951394	72	G>D		No	ClinGen gnomAD
CA7788492 rs779329293	73	P>L		No	ClinGen ExAC TOPMed gnomAD
CA394081735 rs1255738385	75	T>P		No	ClinGen Ensembl
CA7788487 rs546035990	76	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	77	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756141786 CA7788486	77	A>T		No	ClinGen ExAC TOPMed gnomAD
rs750502676 CA7788485	78	G>A		No	ClinGen ExAC gnomAD
CA394081710 rs1596573584	79	G>A		No	ClinGen Ensembl
CA7788484 rs767665991	80	P>L		No	ClinGen ExAC gnomAD
CA7788483 rs202093624	81	A>P		No	ClinGen ExAC TOPMed gnomAD
CA7788482 rs751771570	83	A>V		No	ClinGen ExAC gnomAD
rs904611399 CA276498478	85	A>P		No	ClinGen Ensembl
rs765061268 CA7788481	88	H>D		No	ClinGen ExAC gnomAD
rs765061268 CA394081644	88	H>Y		No	ClinGen ExAC gnomAD
CA394081628 rs759275513	89	P>S		No	ClinGen ExAC TOPMed gnomAD
rs759275513 CA7788480	89	P>T		No	ClinGen ExAC TOPMed gnomAD
CA7788479 rs369180094	90	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs766424026 CA7788478	90	A>V		No	ClinGen ExAC TOPMed gnomAD
rs772836959 CA7788476	92	R>Q		No	ClinGen ExAC gnomAD
CA276498459 rs946106728	92	R>W		No	ClinGen TOPMed gnomAD
CA7788475 rs771777536	93	P>L		No	ClinGen ExAC TOPMed gnomAD
rs771777536 CA394081575	93	P>R		No	ClinGen ExAC TOPMed gnomAD
CA7788472 rs376084767	94	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs563131988 CA276498431	94	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs563131988 CA7788473	94	P>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1366827841 CA394081551	95	L>P		No	ClinGen gnomAD
CA7788469 rs770296082	97	T>M		No	ClinGen ExAC TOPMed gnomAD
rs770296082 CA394081522	97	T>R		No	ClinGen ExAC TOPMed gnomAD
CA7788467 rs781242015	98	D>N		No	ClinGen ExAC TOPMed gnomAD
CA394081503 rs1274304987	99	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA276498404 rs952919303	101	I>F		No	ClinGen Ensembl
TCGA novel	101	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1353568686 CA394081458	102	L>F		No	ClinGen gnomAD
rs751758925 CA7788465	103	N>S		No	ClinGen ExAC TOPMed gnomAD
CA394081415 rs777892193	105	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs777892193 CA7788464	105	L>V		No	ClinGen ExAC TOPMed gnomAD
CA7788463 rs754735799	107	W>R		No	ClinGen ExAC TOPMed gnomAD
CA7788461 rs766336024	110	S>L		No	ClinGen ExAC TOPMed gnomAD
CA7788462 rs753589621	110	S>P		No	ClinGen ExAC gnomAD
rs1385008712 CA394081334	111	A>T		No	ClinGen gnomAD
CA276498394 rs961752792	112	C>F		No	ClinGen Ensembl
rs767112668 CA7788458	114	K>R		No	ClinGen ExAC TOPMed gnomAD
CA394081222 rs1300193878	119	Q>E		No	ClinGen TOPMed
CA394081184 rs1338507744	122	K>E		No	ClinGen TOPMed
rs540104363 CA276498365	123	A>D		No	ClinGen Ensembl
rs768193633 CA7788455	125	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7788456 rs774015175	125	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1015024619 CA276498349	126	R>C		No	ClinGen gnomAD
rs763316306 CA7788454 COSM1563537	126	R>H	Variant assessed as Somatic; 4.819e-05 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7788452 rs770208349	127	V>M		No	ClinGen ExAC gnomAD
rs746355172 CA7788451	128	L>V		No	ClinGen ExAC gnomAD
CA276498335 COSM704142 COSM1206762 rs11555893	133	F>L	lung large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1218334800 CA394081027	135	A>T		No	ClinGen TOPMed
rs777997667 CA7788447	135	A>V		No	ClinGen ExAC gnomAD
rs996091910 CA276498325	137	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs141455262 CA7788445	138	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA276498311 rs954069434	140	V>M		No	ClinGen TOPMed
rs767590879 CA7788441	143	A>V		No	ClinGen ExAC gnomAD
CA276498274 rs755785642	144	K>R		No	ClinGen Ensembl
rs1377533633 CA394080871	148	N>S		No	ClinGen gnomAD
CA394080854 rs1430145736	149	V>A		No	ClinGen TOPMed
rs374334718 CA7788438	149	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7788437 rs374334718	149	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	150	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7788436 rs775160715	150	L>V		No	ClinGen ExAC gnomAD
CA7788434 rs759926145	151	P>S		No	ClinGen ExAC gnomAD
rs777057575 CA7788433	152	G>S		No	ClinGen ExAC gnomAD
rs1338216379 CA394080795	154	E>D		No	ClinGen gnomAD
CA7788430 rs146630687	158	V>M		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs938657442 CA276498221	161	Q>E		No	ClinGen Ensembl
rs755930289 CA7788426	161	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA276498219 rs144873392	162	G>S		No	ClinGen 1000Genomes gnomAD
rs781126331 CA394080644	165	A>S		No	ClinGen ExAC TOPMed gnomAD
CA7788424 rs781126331	165	A>T		No	ClinGen ExAC TOPMed gnomAD
rs757127902 CA7788423	166	R>S		No	ClinGen ExAC gnomAD
rs751580751 CA7788422	169	E>A		No	ClinGen ExAC gnomAD
TCGA novel	169	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7788421 rs763478740	170	G>A		No	ClinGen ExAC gnomAD
rs752308420 CA7788419	175	G>D		No	ClinGen ExAC gnomAD
rs376489903 CA394080509	176	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs376489903 CA7788418	176	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs972853053 CA276498173	178	D>N		No	ClinGen TOPMed gnomAD
CA394080478 rs1286132573	181	I>V		No	ClinGen gnomAD
rs1351682843 CA394080444	185	I>T		No	ClinGen TOPMed
TCGA novel	185	I>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761059189 CA7788414	189	A>G		No	ClinGen ExAC TOPMed gnomAD
CA276498167 rs987545016	189	A>T		No	ClinGen TOPMed
CA394080400 rs761059189	189	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1046610669 CA276498165	190	L>P		No	ClinGen TOPMed
rs369227227 CA276498164	193	K>M		No	ClinGen ESP TOPMed gnomAD
TCGA novel	194	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7788411 rs748265748	194	G>S		No	ClinGen ExAC TOPMed gnomAD
CA394080347 rs1170625456	194	G>V		No	ClinGen gnomAD
rs774644838 CA7788410	197	A>V		No	ClinGen ExAC gnomAD
TCGA novel	200	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769009382 CA7788409	202	R>C		No	ClinGen ExAC TOPMed gnomAD
CA394080267 rs1179697305	202	R>H		No	ClinGen gnomAD
rs950226493 CA276498162	205	I>M		No	ClinGen TOPMed gnomAD
rs757114798 CA7788406	208	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1464298304 CA394080174	211	E>V		No	ClinGen gnomAD
TCGA novel	215	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1314328581 CA394078939	217	M>T		No	ClinGen gnomAD
rs1299764512 CA394078924	218	Q>*		No	ClinGen gnomAD
CA394078920 rs1219160228	218	Q>R		No	ClinGen gnomAD
rs1314237865 CA394078891	219	G>A		No	ClinGen TOPMed
rs1596572733 CA394078880	220	V>A		No	ClinGen Ensembl
CA394078885 rs763146281	220	V>L		No	ClinGen ExAC TOPMed gnomAD
rs763146281 CA7788368	220	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1359465958 CA394078867	222	R>C		No	ClinGen TOPMed gnomAD
rs1303116928 CA394078864	222	R>H		No	ClinGen gnomAD
TCGA novel	223	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	230	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1466065495 CA394078743	230	D>Y		No	ClinGen gnomAD
rs1195899343 CA394078663	233	E>D		No	ClinGen TOPMed gnomAD
CA276497553 rs779406317	233	E>K		No	ClinGen Ensembl
rs1476913267 CA394078657	234	A>T		No	ClinGen gnomAD
CA394078562 rs1254638939	238	S>F		No	ClinGen gnomAD
CA394078513 rs1319203384	241	S>N		No	ClinGen gnomAD
rs982882726 CA276497544	242	A>V		No	ClinGen Ensembl
CA394078435 rs1596572685	245	T>P		No	ClinGen Ensembl
rs1376593066 CA394078364	249	V>L		No	ClinGen gnomAD
CA394078324 rs1596572669	251	D>A		No	ClinGen Ensembl
rs778846761 CA7788361	259	A>T		No	ClinGen ExAC gnomAD
rs1372578860 COSM145406 CA394078084	269	N>S	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
rs781661544 CA7788355	271	A>G		No	ClinGen ExAC gnomAD
CA276497524 rs866391028	271	A>T		No	ClinGen Ensembl
CA7788356 rs781661544	271	A>V		No	ClinGen ExAC gnomAD
CA276497502 rs867528378	272	E>A		No	ClinGen Ensembl
CA394078069 rs1433590675	272	E>K		No	ClinGen TOPMed
TCGA novel	274	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA276497490 rs964265716	275	L>V		No	ClinGen Ensembl
CA394078043 rs1567297914	276	Q>*		No	ClinGen Ensembl
rs1197310493 CA394077989	284	A>S		No	ClinGen gnomAD
rs758353826 CA7788351	286	A>S		No	ClinGen ExAC gnomAD
CA394077978 rs758353826	286	A>T		No	ClinGen ExAC gnomAD
rs1567297897 CA394077949	290	A>S		No	ClinGen Ensembl
rs1022483575 CA276497477	291	R>H		No	ClinGen Ensembl
TCGA novel	291	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7788348 rs759777166	297	H>Q		No	ClinGen ExAC gnomAD
TCGA novel	306	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1367583439 CA394077827	308	T>S		No	ClinGen gnomAD
CA394077786 rs1366912078	314	N>S		No	ClinGen gnomAD
CA394077783 rs1440631892	315	V>M		No	ClinGen gnomAD
rs755602861 CA276497432	321	N>S		No	ClinGen Ensembl
rs745510976 CA7788339	324	A>V		No	ClinGen ExAC gnomAD
CA7788338 rs781012746	325	L>I		No	ClinGen ExAC gnomAD
CA394077704 rs1331575944	327	L>H		No	ClinGen gnomAD
CA7788336 rs747392730	330	C>F		No	ClinGen ExAC gnomAD
CA276497424 rs529252326	342	A>V		No	ClinGen gnomAD
CA276497421 rs749927589	343	E>D		No	ClinGen TOPMed gnomAD
CA394077530 rs1420524413	343	E>K		No	ClinGen gnomAD
rs765341084 CA7788332	349	R>C		No	ClinGen ExAC gnomAD
rs1201689479 CA394077408	351	L>F		No	ClinGen gnomAD
rs1216773139 CA394077376	353	L>F		No	ClinGen gnomAD
CA7788329 rs766589174	354	S>A		No	ClinGen ExAC gnomAD
rs1345479092 CA394077318	357	P>A		No	ClinGen gnomAD
CA394077298 rs1392897751	358	R>L		No	ClinGen TOPMed
TCGA novel	361	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394077232 rs1453353684	362	M>V		No	ClinGen TOPMed
CA394077211 rs1276501707	363	A>T		No	ClinGen gnomAD
rs906892556 CA276497390	367	V>L		No	ClinGen TOPMed gnomAD
rs1342591782 CA394077085	370	D>N		No	ClinGen gnomAD
rs1166250831 CA394077053	372	H>R		No	ClinGen Ensembl
CA7788327 rs774114676	373	R>G		No	ClinGen ExAC gnomAD
TCGA novel	373	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762916671 CA7788325	375	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1304145270 CA394076785	382	C>Y		No	ClinGen TOPMed
CA394076765 rs1222326857	383	V>A		No	ClinGen TOPMed gnomAD
rs1279629227 CA394076759	384	R>G		No	ClinGen gnomAD
rs1274249515 CA394076737	385	I>V		No	ClinGen TOPMed
CA7788282 rs753875906	386	T>K		No	ClinGen ExAC
rs542333830 CA7788280	387	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs757549272 CA7788279	388	T>I		No	ClinGen ExAC gnomAD
CA394076619 rs1409578199	391	S>T		No	ClinGen gnomAD
CA394076596 rs1175651284	392	Y>F		No	ClinGen gnomAD
rs774572782 CA7788276	396	M>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	400	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7788274 rs749769409	402	L>V		No	ClinGen ExAC gnomAD
rs983298276 CA394076374	405	R>P		No	ClinGen Ensembl
CA276497046 rs983298276	405	R>Q		No	ClinGen Ensembl
rs780560659 CA7788273	408	C>Y		No	ClinGen ExAC gnomAD
rs1366015730 CA394076184	412	D>E		No	ClinGen gnomAD
CA7788246 rs780055996	413	F>L		No	ClinGen ExAC gnomAD
rs756113309 CA7788245	414	G>W		No	ClinGen ExAC
CA7788242 rs756811787	415	L>V		No	ClinGen ExAC gnomAD
CA394076096 rs1201039382	420	A>G		No	ClinGen gnomAD
CA276496839 rs894171479	422	G>E		No	ClinGen Ensembl
rs763245095 CA7788239	422	G>R		No	ClinGen ExAC gnomAD
CA394076077 rs1238263851	423	S>N		No	ClinGen TOPMed gnomAD
rs1238263851 CA394076076	423	S>T		No	ClinGen TOPMed gnomAD
TCGA novel	424	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs866963270 CA276496829	425	R>C		No	ClinGen Ensembl
CA7788238 rs775818903	425	R>H		No	ClinGen ExAC gnomAD
CA7788236 rs759937987	426	L>F		No	ClinGen ExAC gnomAD
TCGA novel	427	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs17855603 CA276496809 VAR_028163	429	L>P		No	ClinGen UniProt Ensembl dbSNP
CA394075245 rs1253818518	433	P>A		No	ClinGen TOPMed
rs970952497 CA276496606	437	T>I		No	ClinGen Ensembl
rs1411204525 CA394075147	438	T>I		No	ClinGen gnomAD
rs1166997750 CA394075144	439	G>R		No	ClinGen gnomAD
CA394075098 rs1181595539	441	S>L		No	ClinGen gnomAD
CA394075101 rs1181595539	441	S>W		No	ClinGen gnomAD
CA7788192 rs762012531	442	G>R		No	ClinGen ExAC gnomAD
rs768934814 CA7788191	443	L>M		No	ClinGen ExAC TOPMed gnomAD
CA276496584 rs1027774900	450	E>G		No	ClinGen TOPMed gnomAD
rs1317610561 CA394074922	452	L>V		No	ClinGen gnomAD
rs1384577179 CA394074803	458	P>L		No	ClinGen TOPMed
rs773166211 CA7788185	459	G>A		No	ClinGen ExAC TOPMed gnomAD
rs1352273436 CA394074778	460	A>D		No	ClinGen gnomAD
CA7788184 rs771504491	460	A>T		No	ClinGen ExAC
CA394074753 rs1405587760	462	P>A		No	ClinGen gnomAD
CA394074747 rs1367093984	462	P>H		No	ClinGen gnomAD
TCGA novel	462	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394074724 rs1214953597	463	E>D		No	ClinGen gnomAD
rs958422765 CA276496561	465	F>Y		No	ClinGen TOPMed gnomAD
CA394074670 rs1327560081	466	K>R		No	ClinGen TOPMed
CA394074609 rs1178880621	469	S>L		No	ClinGen gnomAD
CA394074588 rs1471169437	470	Q>L		No	ClinGen gnomAD
rs368142159 CA7788180	471	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs778348353 CA7788182	471	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs756565272 CA7788179	472	L>V		No	ClinGen ExAC TOPMed gnomAD
CA7788176 rs768139454	474	R>C		No	ClinGen ExAC gnomAD
CA276496524 rs1009199877	476	L>I		No	ClinGen TOPMed
rs372045983 CA7788173	477	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs998486927 CA276496508	478	I>M		No	ClinGen TOPMed
rs1025599358 CA276496509	478	I>T		No	ClinGen TOPMed
CA7788172 rs374453927	478	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1456055783 CA394074450	479	E>Q		No	ClinGen TOPMed

No associated diseases with Q8N461

10 regional properties for Q8N461

Type	Name	Position	InterPro Accession
repeat	Leucine-rich repeat	319 - 341	IPR001611-1
repeat	Leucine-rich repeat	345 - 361	IPR001611-2
repeat	Leucine-rich repeat, cysteine-containing subtype	241 - 266	IPR006553-1
repeat	Leucine-rich repeat, cysteine-containing subtype	267 - 291	IPR006553-2
repeat	Leucine-rich repeat, cysteine-containing subtype	293 - 318	IPR006553-3
repeat	Leucine-rich repeat, cysteine-containing subtype	319 - 344	IPR006553-4
repeat	Leucine-rich repeat, cysteine-containing subtype	345 - 370	IPR006553-5
repeat	Leucine-rich repeat, cysteine-containing subtype	371 - 396	IPR006553-6
repeat	Leucine-rich repeat, cysteine-containing subtype	397 - 421	IPR006553-7
repeat	Leucine-rich repeat, cysteine-containing subtype	422 - 446	IPR006553-8

Functions

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

2 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
SCF ubiquitin ligase complex	A ubiquitin ligase complex in which a cullin from the Cul1 subfamily and a RING domain protein form the catalytic core; substrate specificity is conferred by a Skp1 adaptor and an F-box protein. SCF complexes are involved in targeting proteins for degradation by the proteasome. The best characterized complexes are those from yeast and mammals (with core subunits named Cdc53/Cul1, Rbx1/Hrt1/Roc1).

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name	Definition
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.

6 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8N4B4	FBXO39	F-box only protein 39	Homo sapiens (Human)	PR
Q9UKT7	FBXL3	F-box/LRR-repeat protein 3	Homo sapiens (Human)	PR
Q8C4V4	Fbxl3	F-box/LRR-repeat protein 3	Mus musculus (Mouse)	PR
Q8BH70	Fbxl4	F-box/LRR-repeat protein 4	Mus musculus (Mouse)	PR
Q9ZR12	GRH1	GRR1-like protein 1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LTX2	At5g49980	Transport inhibitor response 1-like protein	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MSSPGIDGDP	KPPCLPRNGL	VKLPGQPNGL	GAASITKGTP	ATKNRPCQPP	PPPTLPPPSL
70	80	90	100	110	120
AAPLSRAALA	GGPCTPAGGP	ASALAPGHPA	ERPPLATDEK	ILNGLFWYFS	ACEKCVLAQV
130	140	150	160	170	180
CKAWRRVLYQ	PKFWAGLTPV	LHAKELYNVL	PGGEKEFVNL	QGFAARGFEG	FCLVGVSDLD
190	200	210	220	230	240
ICEFIDNYAL	SKKGVKAMSL	KRSTITDAGL	EVMLEQMQGV	VRLELSGCND	FTEAGLWSSL
250	260	270	280	290	300
SARITSLSVS	DCINVADDAI	AAISQLLPNL	AELSLQAYHV	TDTALAYFTA	RQGHSTHTLR
310	320	330	340	350	360
LLSCWEITNH	GVVNVVHSLP	NLTALSLSGC	SKVTDDGVEL	VAENLRKLRS	LDLSWCPRIT
370	380	390	400	410	420
DMALEYVACD	LHRLEELVLD	RCVRITDTGL	SYLSTMSSLR	SLYLRWCCQV	QDFGLKHLLA
430	440	450	460	470
LGSLRLLSLA	GCPLLTTTGL	SGLVQLQELE	ELELTNCPGA	TPELFKYFSQ	HLPRCLVIE