AiPD: Autoinhibited Protein Database

O00327

Gene name	ARNTL (BHLHE5, BMAL1, MOP3, PASD3)
Protein name	Aryl hydrocarbon receptor nuclear translocator-like protein 1
Names	Basic-helix-loop-helix-PAS protein MOP3, Brain and muscle ARNT-like 1, Class E basic helix-loop-helix protein 5, bHLHe5, Member of PAS protein 3, PAS domain-containing protein 3, bHLH-PAS protein JAP3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:406
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

33-104 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

33-104 (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 O00327

Entry ID	Method	Resolution	Chain	Position	Source
4H10	X-ray	240 A	A	66-128	PDB
AF-O00327-F1	Predicted				AlphaFoldDB

338 variants for O00327

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001270219 rs1942174898	6	M>I	Premature ovarian failure [ClinVar]	Yes	ClinVar dbSNP
CA379722535 rs1304376910	3	D>E		No	ClinGen gnomAD
CA379722533 rs1467340502	3	D>G		No	ClinGen gnomAD
CA5892302 rs766991958	4	Q>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	5	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752113786 CA5892303	5	R>K		No	ClinGen ExAC gnomAD
rs1453415631 CA379722559	7	D>H		No	ClinGen gnomAD
CA5892304 rs754956527	9	S>T		No	ClinGen ExAC TOPMed gnomAD
rs752822630 CA5892306	10	S>L		No	ClinGen ExAC gnomAD
CA217866569 rs979249785	11	T>A		No	ClinGen TOPMed
rs1161891034 CA379722587	11	T>I		No	ClinGen gnomAD
CA5892307 rs756297040	12	I>V		No	ClinGen ExAC gnomAD
CA5892308 rs778017175	13	S>G		No	ClinGen ExAC TOPMed gnomAD
CA5892309 rs745648535	13	S>N		No	ClinGen ExAC TOPMed gnomAD
rs745648535 CA379722598	13	S>T		No	ClinGen ExAC TOPMed gnomAD
rs561137849 CA5892310	14	D>V		No	ClinGen 1000Genomes ExAC gnomAD
CA379722613 rs1389242258	15	F>Y		No	ClinGen gnomAD
CA379722622 rs1327582756	16	M>I		No	ClinGen gnomAD
CA217866589 rs886226825	17	S>P		No	ClinGen Ensembl
rs746976700 CA5892312	18	P>L		No	ClinGen ExAC TOPMed gnomAD
rs779897786 CA5892311	18	P>S		No	ClinGen ExAC gnomAD
rs79254129 CA5892314	22	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA379722660 rs1201467580	23	L>V		No	ClinGen TOPMed
CA379722677 rs1489586270	26	S>G		No	ClinGen gnomAD
rs1194212761 CA379722688	27	S>C		No	ClinGen gnomAD
CA379722687 rs1194212761	27	S>Y		No	ClinGen gnomAD
TCGA novel	31	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs113384667 CA217866632	33	V>A		No	ClinGen Ensembl
CA5892316 rs769560046	33	V>M		No	ClinGen ExAC gnomAD
CA379722727 rs1185016711	34	D>H		No	ClinGen TOPMed gnomAD
rs1185016711 CA379722726	34	D>N		No	ClinGen TOPMed gnomAD
rs1047752403 CA217866644	35	C>G		No	ClinGen Ensembl
rs773068573 CA5892317	37	R>G		No	ClinGen ExAC gnomAD
CA217866648 rs949259189	37	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs763344347 CA5892318	40	K>R		No	ClinGen ExAC gnomAD
CA5892319 rs771438108	41	G>R		No	ClinGen ExAC gnomAD
CA5892321 rs760120712	45	D>N		No	ClinGen ExAC gnomAD
rs777322872 CA217866670	46	Y>C		No	ClinGen TOPMed gnomAD
rs1411075468 CA379722817	47	Q>L		No	ClinGen gnomAD
CA5892364 rs761943304	49	S>T		No	ClinGen ExAC gnomAD
TCGA novel	51	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1163932326 CA379722892	51	D>Y		No	ClinGen gnomAD
CA379722932 rs1565122539	56	D>G		No	ClinGen Ensembl
rs765496273 CA5892365	57	P>T		No	ClinGen ExAC TOPMed
rs769220676 CA217867985	58	H>N		No	ClinGen Ensembl
CA379723336 rs755289215	60	R>S		No	ClinGen ExAC TOPMed gnomAD
rs781570195 CA5892414	62	E>K		No	ClinGen ExAC gnomAD
rs1208187091 CA379723374	66	H>N		No	ClinGen TOPMed gnomAD
rs1329614332 CA379723382	67	Q>K		No	ClinGen gnomAD
TCGA novel	71	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1411505937 CA379723661	83	R>W		No	ClinGen gnomAD
rs762395860 CA5892429	85	R>Q		No	ClinGen ExAC gnomAD
rs1214192556 CA379723758	90	S>R		No	ClinGen TOPMed
rs1439185998 CA379723865	96	A>S		No	ClinGen TOPMed
CA379723879 rs1370786517	97	S>A		No	ClinGen TOPMed
rs1266220474 CA379723886	97	S>F		No	ClinGen gnomAD
CA379723902 rs1358566160	98	L>F		No	ClinGen gnomAD
rs765899132 CA5892430	101	T>S		No	ClinGen ExAC gnomAD
rs1483665028 CA379723937	102	C>W		No	ClinGen gnomAD
rs759159507 CA5892432	103	N>S		No	ClinGen ExAC gnomAD
rs180755745 CA5892434	104	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5892435 rs756569611	104	A>V		No	ClinGen ExAC gnomAD
CA379723953 rs1408943124	105	M>T		No	ClinGen TOPMed
CA5892436 rs764441102	105	M>V		No	ClinGen ExAC TOPMed gnomAD
CA379723962 rs1590808941	106	S>C		No	ClinGen Ensembl
TCGA novel	106	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	113	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1167414730 CA379724028	116	R>M		No	ClinGen gnomAD
CA217868872 rs750742213	117	M>L		No	ClinGen Ensembl
TCGA novel	118	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379724040 rs1431528463	118	A>T		No	ClinGen gnomAD
rs745981543 CA5892440	123	K>R		No	ClinGen ExAC TOPMed gnomAD
CA5892441 rs758669441	124	T>I		No	ClinGen ExAC TOPMed gnomAD
CA5892467 rs745318050	129	T>I		No	ClinGen ExAC gnomAD
CA217869744 rs751116819	130	N>S		No	ClinGen Ensembl
CA217869745 rs942373583	131	P>L		No	ClinGen TOPMed
rs1433669307 CA379724157	133	T>I		No	ClinGen gnomAD
rs943186843 CA217869749	135	A>G		No	ClinGen gnomAD
CA379724184 rs1456469487	137	Y>C		No	ClinGen gnomAD
CA379724179 rs1361868467	137	Y>N		No	ClinGen gnomAD
CA5892470 rs760404876	140	T>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	144	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379724233 rs1291832846	145	D>N		No	ClinGen gnomAD
CA5892473 rs762323279	149	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA379724286 rs1590822958	152	L>F		No	ClinGen Ensembl
CA5892489 rs768337963	154	A>V		No	ClinGen ExAC gnomAD
rs776490340 CA5892490	157	G>*		No	ClinGen ExAC gnomAD
CA217872488 rs1029826614	161	V>I		No	ClinGen TOPMed gnomAD
rs557834190 CA5892492	162	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1226276621 CA379725172	166	R>Q		No	ClinGen gnomAD
CA379725203 rs1565149344	171	F>L		No	ClinGen Ensembl
CA379725222 rs1288647161	174	E>K		No	ClinGen gnomAD
rs773817297 CA5892493	177	F>L		No	ClinGen ExAC gnomAD
CA217872504 rs1046353834	178	K>R		No	ClinGen TOPMed gnomAD
CA379725329 rs1448895137	187	L>M		No	ClinGen gnomAD
rs1565152458 CA379725353	190	Q>H		No	ClinGen Ensembl
rs112626431 CA217873151	196	L>Q		No	ClinGen Ensembl
CA5892520 rs759604326	196	L>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	202	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	206	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379725477 rs1454271026	207	Q>H		No	ClinGen gnomAD
rs188144151 CA5892524	213	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA379725511 rs1299811667	213	T>I		No	ClinGen gnomAD
CA5892525 rs188144151	213	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs144766524 CA5892527	214	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1371246707 CA379725519	215	P>T		No	ClinGen gnomAD
CA379725527 rs1218467493	216	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs368050146 CA5892528	218	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs757010873 CA217873167	218	R>W		No	ClinGen gnomAD
rs1205844037 CA379725548	220	I>V		No	ClinGen gnomAD
CA379725566 rs1246341079	222	A>G		No	ClinGen gnomAD
CA379725619 rs1324136987	229	K>E		No	ClinGen gnomAD
CA379725622 rs1347303543	229	K>R		No	ClinGen gnomAD
rs868287775 CA217874633	230	T>K		No	ClinGen Ensembl
rs1407834818 CA379725632	231	D>H		No	ClinGen gnomAD
CA5892547 rs751414688	232	I>T		No	ClinGen ExAC TOPMed gnomAD
rs776734824 CA5892546	232	I>V		No	ClinGen ExAC TOPMed gnomAD
rs754946802 CA5892548	233	T>I		No	ClinGen ExAC TOPMed gnomAD
rs767625605 CA5892549	238	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1434856001 CA379725676	238	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA379725711 rs1291310644	244	R>*		No	ClinGen gnomAD
TCGA novel	245	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748917171 CA5892553	253	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA379725798 rs1183541691	256	P>A		No	ClinGen gnomAD
TCGA novel	259	K>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379725827 rs1366287107	260	V>A		No	ClinGen gnomAD
CA379725826 rs1366287107	260	V>G		No	ClinGen gnomAD
CA379725857 rs1277097748	264	D>G		No	ClinGen TOPMed
rs1367413928 CA379725868	265	F>L		No	ClinGen gnomAD
rs1163323242 CA379725862	265	F>L		No	ClinGen gnomAD
rs1427767140 CA379725872	266	P>H		No	ClinGen gnomAD
rs765377443 CA5892556	271	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1008655818 CA217874685	272	K>R		No	ClinGen TOPMed
CA5892557 rs772553809	273	K>R		No	ClinGen ExAC TOPMed gnomAD
CA379725951 rs772979178	275	D>G		No	ClinGen TOPMed gnomAD
CA217875897 rs772979178	275	D>V		No	ClinGen TOPMed gnomAD
rs756835503 CA5892572	276	R>G		No	ClinGen ExAC gnomAD
rs1254604798 CA379725955	276	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA379725967 rs1402930093	278	S>G		No	ClinGen gnomAD
CA379725971 rs1344706875	278	S>I		No	ClinGen gnomAD
rs1311895262 CA379726020	285	T>A		No	ClinGen TOPMed
CA5892577 rs747534718	292	P>A		No	ClinGen ExAC gnomAD
CA379726071 rs747534718	292	P>T		No	ClinGen ExAC gnomAD
rs768738743 CA5892578	295	K>N		No	ClinGen ExAC gnomAD
rs748321035 CA5892580	302	N>K		No	ClinGen ExAC gnomAD
rs184976581 CA5892579	302	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5892582 rs773491224	303	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs759348002 CA5892583	304	P>S		No	ClinGen ExAC gnomAD
rs1455771390 CA379726163	305	D>E		No	ClinGen gnomAD
rs1325609709 CA379726166	306	N>D		No	ClinGen gnomAD
CA5892584 rs372395460	306	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA379726172 rs1565170256	307	E>K		No	ClinGen Ensembl
CA379726219 rs1384441666	313	C>Y		No	ClinGen gnomAD
CA5892587 rs377177448	315	V>I		No	ClinGen ESP ExAC gnomAD
rs1264692349 CA379726235	316	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1445338612 CA379726242	317	I>V		No	ClinGen TOPMed
rs1158905488 CA379726255	319	R>*		No	ClinGen TOPMed
rs150547268 CA5892589	319	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764725084 CA5892590	321	H>R		No	ClinGen ExAC gnomAD
rs1486537170 CA379726292	325	V>D		No	ClinGen gnomAD
rs187788827 CA5892591	325	V>I		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	326	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758710032 CA379726296	326	P>S		No	ClinGen ExAC gnomAD
rs758710032 CA5892592	326	P>T		No	ClinGen ExAC gnomAD
CA379726304 rs1258338661	327	Q>R		No	ClinGen TOPMed
CA5892594 rs751972747	328	P>S		No	ClinGen ExAC TOPMed gnomAD
rs375792267 CA5892596	329	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs941090142 CA217875991	331	G>R		No	ClinGen TOPMed
TCGA novel	332	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379726340 rs1487477840	333	I>V		No	ClinGen TOPMed
rs148464006 CA5892599	337	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5892598 rs148464006	337	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA379726375 rs1455360668	338	M>T		No	ClinGen gnomAD
CA379726412 rs1405982532	343	R>Q		No	ClinGen gnomAD
CA379726421 rs1348967130	345	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA379726449 rs1377838651	349	K>E		No	ClinGen TOPMed
TCGA novel	353	V>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA217876028 rs200158933	355	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA5892622 rs746713814	357	A>T		No	ClinGen ExAC gnomAD
rs768509714 CA5892623	359	A>G		No	ClinGen ExAC gnomAD
rs1190916108 CA379726530	359	A>P		No	ClinGen TOPMed
CA5892624 rs776379825	360	I>V		No	ClinGen ExAC TOPMed gnomAD
rs748145456 CA5892625	362	A>V		No	ClinGen ExAC gnomAD
CA379726561 rs1355966504	364	L>V		No	ClinGen gnomAD
TCGA novel	367	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	367	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746790109 CA217877016	372	S>L		No	ClinGen Ensembl
CA379726650 rs1474506574	377	F>I		No	ClinGen gnomAD
CA217877049 rs377046938	384	H>Y		No	ClinGen Ensembl
TCGA novel	387	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1590949218 CA379726756	391	Q>R		No	ClinGen Ensembl
CA379726794 rs1217136201	395	T>A		No	ClinGen gnomAD
rs370345058 CA5892645	395	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA379726819 rs1266346151	398	K>N		No	ClinGen Ensembl
CA379726821 rs1471310121	399	I>L		No	ClinGen TOPMed
rs201094383 CA217877589	403	C>S		No	ClinGen gnomAD
rs201094383 CA379726851	403	C>Y		No	ClinGen gnomAD
rs1383629649 CA379726869	405	K>N		No	ClinGen gnomAD
TCGA novel	407	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773835970 CA5892649	409	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1260142485 CA379726945	416	L>P		No	ClinGen TOPMed
CA5892650 rs759197153	417	R>W		No	ClinGen ExAC gnomAD
TCGA novel	419	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1209431585 CA379726961	419	R>Q		No	ClinGen TOPMed
CA379727003 rs1404147967	424	M>I		No	ClinGen gnomAD
CA5892651 rs771672467	424	M>V		No	ClinGen ExAC TOPMed gnomAD
CA379727013 rs879169339	426	P>A		No	ClinGen gnomAD
rs879169339 CA217877607	426	P>T		No	ClinGen gnomAD
CA5892652 rs775911804	431	V>I		No	ClinGen ExAC gnomAD
CA379727060 rs1225614674	432	E>D		No	ClinGen gnomAD
CA5892653 rs761186661	434	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1565181120 CA379727089	437	T>A		No	ClinGen Ensembl
CA5892654 rs764628147	437	T>I		No	ClinGen ExAC gnomAD
CA5892656 rs761934948	440	V>A		No	ClinGen ExAC TOPMed gnomAD
CA5892655 rs754408491	440	V>I		No	ClinGen ExAC gnomAD
CA379727117 rs1450371323	441	V>G		No	ClinGen gnomAD
CA379727114 rs1223962701	441	V>I		No	ClinGen TOPMed
rs1174512197 CA379714783	444	N>S		No	ClinGen TOPMed
rs1469394014 CA379714791	445	V>A		No	ClinGen TOPMed gnomAD
rs200152414 CA5892693	445	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1337441942 CA379714792	446	L>M		No	ClinGen TOPMed gnomAD
CA379714801 rs1385018536	447	E>G		No	ClinGen gnomAD
CA5892695 rs781024905	449	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1230051418 CA379714828	451	P>L		No	ClinGen gnomAD
CA5892696 rs763041492	451	P>T		No	ClinGen ExAC TOPMed gnomAD
CA5892697 rs766401004	452	T>A		No	ClinGen ExAC TOPMed gnomAD
CA5892698 rs774459715	452	T>I		No	ClinGen ExAC gnomAD
CA5892699 rs369647836	454	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs767788725 CA5892700	455	Q>H		No	ClinGen ExAC gnomAD
CA5892701 rs753628103	457	T>I		No	ClinGen ExAC TOPMed gnomAD
rs757005059 CA5892702	458	A>T		No	ClinGen ExAC gnomAD
CA5892704 rs750347142	459	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs750347142 CA5892705	459	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs779399844 CA5892706	460	P>R		No	ClinGen ExAC gnomAD
CA379714873 rs1196447472	460	P>S		No	ClinGen gnomAD
rs373903392 CA217857594	461	H>D		No	ClinGen ESP TOPMed gnomAD
CA217857599 rs1019319663	461	H>Q		No	ClinGen Ensembl
CA5892708 rs754663538	463	M>V		No	ClinGen ExAC TOPMed gnomAD
CA379714904 rs1451645760	464	D>G		No	ClinGen gnomAD
rs1288853581 CA379714917	466	M>L		No	ClinGen gnomAD
CA5892710 rs748467837	469	S>P		No	ClinGen ExAC gnomAD
CA5892711 rs770078124	471	E>G		No	ClinGen ExAC gnomAD
rs771636295 CA217858778	472	G>D		No	ClinGen Ensembl
CA379714976 rs1288290890	473	G>V		No	ClinGen gnomAD
rs1479720523 CA379714977	474	P>A		No	ClinGen TOPMed
CA379714978 rs1479720523	474	P>S		No	ClinGen TOPMed
TCGA novel	474	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	476	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs143122431 CA379715012	478	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs777982159 CA5892733	479	P>L		No	ClinGen ExAC gnomAD
CA5892735 rs771341225	482	P>A		No	ClinGen ExAC gnomAD
CA379715033 rs1590988069	482	P>Q		No	ClinGen Ensembl
rs1356683285 CA379715059	486	G>V		No	ClinGen Ensembl
CA379715076 rs1374892939	489	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs745887813 CA5892737	489	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	491	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379715088 rs1590988291	491	G>V		No	ClinGen Ensembl
CA379715113 rs1180182494	495	I>T		No	ClinGen gnomAD
rs775645627 CA5892739	497	R>*		No	ClinGen ExAC gnomAD
rs775645627 CA379715122	497	R>G		No	ClinGen ExAC gnomAD
rs1343504455 CA379715125	497	R>L		No	ClinGen TOPMed
rs1343504455 CA379715123	497	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA217858823 rs146679326	502	E>K		No	ClinGen ESP
CA379715174 rs1247961501	504	M>T		No	ClinGen gnomAD
rs1383398433 CA379715171	504	M>V		No	ClinGen gnomAD
CA217858833 rs749636845	505	E>D		No	ClinGen Ensembl
CA5892741 rs768971686	507	H>R		No	ClinGen ExAC gnomAD
CA5892740 rs760772851	507	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	508	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776916046 CA5892764	509	I>V		No	ClinGen ExAC gnomAD
rs762595978 CA5892765	512	S>L		No	ClinGen ExAC gnomAD
rs1316220783 CA379715247	513	S>L		No	ClinGen gnomAD
CA217860451 rs901005752	514	P>S		No	ClinGen TOPMed
CA217860459 rs996666611	517	C>S		No	ClinGen TOPMed
CA379715277 rs1565199046	518	G>D		No	ClinGen Ensembl
CA379715288 rs1343373137	520	S>R		No	ClinGen gnomAD
rs1324432189 CA379715313	523	N>K		No	ClinGen TOPMed gnomAD
CA217860495 rs989524021	523	N>Y		No	ClinGen TOPMed gnomAD
rs774861185 CA5892770	525	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	526	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs868595483 CA217860496	526	S>N		No	ClinGen TOPMed gnomAD
rs753548616 CA5892773	527	T>M	Variant assessed as Somatic; 9.246e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1565199438 CA379715354	530	P>R		No	ClinGen Ensembl
rs1591015966 CA379715350	530	P>T		No	ClinGen Ensembl
CA5892777 rs750831312	532	A>G		No	ClinGen ExAC gnomAD
CA379715373 rs1591016084	533	S>C		No	ClinGen Ensembl
rs780676809 CA5892779	534	S>P		No	ClinGen ExAC gnomAD
CA379715382 rs1156284703	535	P>L		No	ClinGen gnomAD
CA5892780 rs140277154	535	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA379715402 rs1401252714	538	K>R		No	ClinGen gnomAD
rs201622933 CA217862745	542	N>S		No	ClinGen TOPMed
TCGA novel	543	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752128132 CA5892800	544	G>E		No	ClinGen ExAC gnomAD
rs368704906 CA5892801	545	T>A		No	ClinGen ESP ExAC TOPMed
rs911787335 CA217862753	545	T>N		No	ClinGen TOPMed
rs1381202191 CA379715496	550	S>F		No	ClinGen gnomAD
CA379715502 rs1565211252	551	S>N		No	ClinGen Ensembl
CA5892802 rs781309982	552	G>S		No	ClinGen ExAC gnomAD
rs180860705 CA5892804	554	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	555	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778149506 CA5892805	557	Q>H		No	ClinGen ExAC gnomAD
rs1437970637 CA379715583	559	Q>H		No	ClinGen gnomAD
rs1179932737 CA379715600	560	E>D		No	ClinGen TOPMed gnomAD
CA5892806 rs745603322	561	N>K		No	ClinGen ExAC gnomAD
rs146580871 CA5892807	562	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs146580871 CA5892808	562	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746931397 CA5892809	567	S>Y		No	ClinGen ExAC gnomAD
CA217862772 rs943286578	572	I>L		No	ClinGen TOPMed gnomAD
rs943286578 CA379715763	572	I>V		No	ClinGen TOPMed gnomAD
CA379715807 rs1380930747	574	G>D		No	ClinGen gnomAD
CA379715823 rs1397193912	576	N>K		No	ClinGen TOPMed
CA5892828 rs757457836	576	N>S		No	ClinGen ExAC gnomAD
CA379715827 rs1341474470	577	P>S		No	ClinGen gnomAD
rs1392632949 CA379715842	579	I>K		No	ClinGen gnomAD
rs1220091875 CA379715840	579	I>V		No	ClinGen gnomAD
rs1233300605 CA379715857	581	I>M		No	ClinGen gnomAD
rs746834054 CA5892830	581	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1399676980 CA379715862	582	D>G		No	ClinGen TOPMed
CA217863147 rs148974355	583	M>I		No	ClinGen ESP gnomAD
CA379715871 rs1257738013	583	M>T		No	ClinGen TOPMed gnomAD
CA5892831 rs768630385	584	I>T		No	ClinGen ExAC gnomAD
rs1427634615 CA379715908	588	Q>R		No	ClinGen TOPMed
CA379715925 rs747598372	591	S>C		No	ClinGen ExAC TOPMed gnomAD
CA5892833 rs747598372	591	S>G		No	ClinGen ExAC TOPMed gnomAD
CA379715944 rs1591066758	593	P>R		No	ClinGen Ensembl
rs1196186793 CA379715946	594	S>G		No	ClinGen gnomAD
rs1267039234 CA379715948	594	S>N		No	ClinGen TOPMed gnomAD
CA379715945 rs1196186793	594	S>R		No	ClinGen gnomAD
rs1176856365 CA379715958	595	N>S		No	ClinGen gnomAD
CA379715990 rs1158431702	600	M>V		No	ClinGen gnomAD
TCGA novel	605	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5892837 rs770550033	607	L>S		No	ClinGen ExAC
rs1344452011 CA379716104	617	V>L		No	ClinGen gnomAD
rs1194618886 CA379716122	619	F>C		No	ClinGen TOPMed
rs1302804422 CA379716129	620	S>N		No	ClinGen gnomAD
CA379716155 rs1271643181	624	W>R		No	ClinGen gnomAD
CA5892841 rs768084035	625	P>L		No	ClinGen ExAC TOPMed gnomAD
rs768084035 CA5892840	625	P>Q		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with O00327

5 regional properties for O00327

Type	Name	Position	InterPro Accession
domain	PAS domain	143 - 234	IPR000014-1
domain	PAS domain	328 - 436	IPR000014-2
repeat	PAC motif	401 - 444	IPR001610
domain	Myc-type, basic helix-loop-helix (bHLH) domain	72 - 131	IPR011598
domain	PAS fold	149 - 252	IPR013767

Functions

		Description
EC Number
Subcellular Localization	Nucleus Cytoplasm Nucleus, PML body	Shuttles between the nucleus and the cytoplasm and this nucleocytoplasmic shuttling is essential for the nuclear accumulation of CLOCK, target gene transcription and the degradation of the CLOCK-BMAL1 heterodimer The sumoylated form localizes in the PML body Sequestered to the cytoplasm in the presence of ID2
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
aryl hydrocarbon receptor complex	A protein complex that acts as an aryl hydrocarbon (Ah) receptor. Cytosolic and nuclear Ah receptor complexes have different subunit composition, but both contain the ligand-binding subunit AhR.
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
chromatoid body	A ribonucleoprotein complex found in the cytoplasm of male germ cells, composed of exceedingly thin filaments that are consolidated into a compact mass or into dense strands of varying thickness that branch to form an irregular network. Contains mRNAs, miRNAs, and protein components involved in miRNA processing (such as Argonaute proteins and the endonuclease Dicer) and in RNA decay (such as the decapping enzyme DCP1a and GW182).
CLOCK-BMAL transcription complex	Transcription factor complex which interacts with E-box regulatory elements in target genes, including Period (Per1, Per2, Per3) and Cryptochrome (Cry1, Cry2), to activate their transcription during the daytime. The CRY-PER complexes inhibit CLOCK-BMAL1-driven transcription in a negative feedback loop to generate circadian rhythms.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
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.
PML body	A class of nuclear body; they react against SP100 auto-antibodies (PML, promyelocytic leukemia); cells typically contain 10-30 PML bodies per nucleus; alterations in the localization of PML bodies occurs after viral infection.
transcription regulator complex	A protein complex that is capable of associating with DNA by direct binding, or via other DNA-binding proteins or complexes, and regulating transcription.

11 GO annotations of molecular function

Name	Definition
aryl hydrocarbon receptor binding	Binding to an aryl hydrocarbon receptor.
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
DNA-binding transcription factor activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
DNA-binding transcription factor binding	Binding to a DNA-binding transcription factor, a protein that interacts with a specific DNA sequence (sometimes referred to as a motif) within the regulatory region of a gene to modulate transcription.
E-box binding	Binding to an E-box, a DNA motif with the consensus sequence CANNTG that is found in the promoters of a wide array of genes expressed in neurons, muscle and other tissues.
Hsp90 protein binding	Binding to Hsp90 proteins, any of a group of heat shock proteins around 90kDa in size.
protein dimerization activity	The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits.
RNA polymerase II cis-regulatory region sequence-specific DNA binding	Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.
sequence-specific DNA binding	Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding.
sequence-specific double-stranded DNA binding	Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding.
transcription cis-regulatory region binding	Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon.

25 GO annotations of biological process

Name	Definition
circadian regulation of gene expression	Any process that modulates the frequency, rate or extent of gene expression such that an expression pattern recurs with a regularity of approximately 24 hours.
circadian rhythm	Any biological process in an organism that recurs with a regularity of approximately 24 hours.
negative regulation of cold-induced thermogenesis	Any process that stops, prevents, or reduces the rate of cold-induced thermogenesis.
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
negative regulation of fat cell differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of adipocyte differentiation.
negative regulation of glucocorticoid receptor signaling pathway	Any process that stops, prevents or reduces the frequency, rate or extent of glucocorticoid receptor signaling pathway.
negative regulation of TOR signaling	Any process that stops, prevents, or reduces the frequency, rate or extent of TOR signaling.
oxidative stress-induced premature senescence	A cellular senescence process associated with the dismantling of a cell as a response to oxidative stress, e.g. high levels of reactive oxygen species, such as superoxide anions, hydrogen peroxide, and hydroxyl radicals.
positive regulation of canonical Wnt signaling pathway	Any process that increases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes.
positive regulation of circadian rhythm	Any process that activates or increases the frequency, rate or extent of a circadian rhythm behavior.
positive regulation of DNA-templated transcription	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of protein acetylation	Any process that activates or increases the frequency, rate or extent of protein acetylation.
positive regulation of skeletal muscle cell differentiation	Any process that activates or increases the frequency, rate or extent of skeletal muscle cell differentiation.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
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.
regulation of cell cycle	Any process that modulates the rate or extent of progression through the cell cycle.
regulation of cellular senescence	Any process that modulates the frequency, rate or extent of cellular senescence.
regulation of DNA-templated transcription	Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.
regulation of hair cycle	Any process that modulates the frequency, rate or extent of the cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair.
regulation of insulin secretion	Any process that modulates the frequency, rate or extent of the regulated release of insulin.
regulation of neurogenesis	Any process that modulates the frequency, rate or extent of neurogenesis, the generation of cells in the nervous system.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
regulation of type B pancreatic cell development	Any process that modulates the frequency, rate or extent of pancreatic B cell development.
response to redox state	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 stimulus indicating redox state. Redox state refers to the balance of oxidized versus reduced forms of electron donors and acceptors in an organelle, cell or organ; plastoquinone, glutathione (GSH/GSSG), and nicotinamide nucleotides (NAD+/NADH and NADP+/NADPH) are among the most important.
spermatogenesis	The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P27540	ARNT	Aryl hydrocarbon receptor nuclear translocator	Homo sapiens (Human)	PR
P53762	Arnt	Aryl hydrocarbon receptor nuclear translocator	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MADQRMDISS	TISDFMSPGP	TDLLSSSLGT	SGVDCNRKRK	GSSTDYQESM	DTDKDDPHGR
70	80	90	100	110	120
LEYTEHQGRI	KNAREAHSQI	EKRRRDKMNS	FIDELASLVP	TCNAMSRKLD	KLTVLRMAVQ
130	140	150	160	170	180
HMKTLRGATN	PYTEANYKPT	FLSDDELKHL	ILRAADGFLF	VVGCDRGKIL	FVSESVFKIL
190	200	210	220	230	240
NYSQNDLIGQ	SLFDYLHPKD	IAKVKEQLSS	SDTAPRERLI	DAKTGLPVKT	DITPGPSRLC
250	260	270	280	290	300
SGARRSFFCR	MKCNRPSVKV	EDKDFPSTCS	KKKADRKSFC	TIHSTGYLKS	WPPTKMGLDE
310	320	330	340	350	360
DNEPDNEGCN	LSCLVAIGRL	HSHVVPQPVN	GEIRVKSMEY	VSRHAIDGKF	VFVDQRATAI
370	380	390	400	410	420
LAYLPQELLG	TSCYEYFHQD	DIGHLAECHR	QVLQTREKIT	TNCYKFKIKD	GSFITLRSRW
430	440	450	460	470	480
FSFMNPWTKE	VEYIVSTNTV	VLANVLEGGD	PTFPQLTASP	HSMDSMLPSG	EGGPKRTHPT
490	500	510	520	530	540
VPGIPGGTRA	GAGKIGRMIA	EEIMEIHRIR	GSSPSSCGSS	PLNITSTPPP	DASSPGGKKI
550	560	570	580	590	600
LNGGTPDIPS	SGLLSGQAQE	NPGYPYSDSS	SILGENPHIG	IDMIDNDQGS	SSPSNDEAAM
610	620
AVIMSLLEAD	AGLGGPVDFS	DLPWPL