AiPD: Autoinhibited Protein Database

Q9BR09

Gene name	NEURL2 (C20orf163)
Protein name	Neuralized-like protein 2
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:140825
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-51 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-51 (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 Q9BR09

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9BR09-F1	Predicted				AlphaFoldDB

264 variants for Q9BR09

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA409245863 rs1601136149	2	A>P		No	ClinGen Ensembl
rs867981657 CA315657791	3	A>S		No	ClinGen gnomAD
rs752205096 CA9882846	3	A>V		No	ClinGen ExAC TOPMed gnomAD
CA409245832 rs1412064590	4	A>S		No	ClinGen gnomAD
CA315657767 rs913907083	6	E>K		No	ClinGen gnomAD
CA9882845 rs767130841	7	P>L		No	ClinGen ExAC gnomAD
CA409245779 rs1466902639	8	V>L		No	ClinGen gnomAD
CA409245718 rs1162451237	12	A>P		No	ClinGen gnomAD
rs1162451237 CA409245720	12	A>T		No	ClinGen gnomAD
CA409245678 rs1222196960	14	W>C		No	ClinGen gnomAD
CA409245665 rs1323353002	15	G>V		No	ClinGen gnomAD
rs1257930976 CA409245649	17	E>G		No	ClinGen TOPMed
rs1213955838 CA409245653	17	E>Q		No	ClinGen TOPMed
rs865992336 CA409245638	18	R>H		No	ClinGen TOPMed gnomAD
rs865992336 CA315657675	18	R>L		No	ClinGen TOPMed gnomAD
CA315657674 rs868516114	19	P>Q		No	ClinGen Ensembl
rs777192123 CA9882840	21	P>L		No	ClinGen ExAC TOPMed gnomAD
CA9882841 rs762167511	21	P>S		No	ClinGen ExAC gnomAD
CA409245565 rs1459896691	24	T>I		No	ClinGen gnomAD
rs1294689548 CA409245568	24	T>S		No	ClinGen gnomAD
CA9882838 rs747091278	25	R>H		No	ClinGen ExAC TOPMed gnomAD
CA315657644 rs747091278	25	R>L		No	ClinGen ExAC TOPMed gnomAD
CA315657650 rs868766302	25	R>S		No	ClinGen gnomAD
rs1457251810 CA409245527	27	H>P		No	ClinGen gnomAD
CA409245531 rs1408452832	27	H>Y		No	ClinGen TOPMed
CA9882836 rs772386433	28	R>L		No	ClinGen ExAC TOPMed
CA409245511 rs772386433	28	R>Q		No	ClinGen ExAC TOPMed
rs775753333 CA9882837	28	R>W		No	ClinGen ExAC TOPMed gnomAD
CA315657641 rs1032913181	29	V>M		No	ClinGen gnomAD
CA409245475 rs1191739297	31	G>S		No	ClinGen gnomAD
CA315657615 rs1014496850	33	N>K		No	ClinGen TOPMed
rs778797215 CA315657589	35	R>C		No	ClinGen ExAC TOPMed gnomAD
CA409245432 rs778797215	35	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9882832 rs770767572	35	R>H		No	ClinGen ExAC gnomAD
rs778797215 CA9882833	35	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1354067167 CA409245429	36	V>M		No	ClinGen TOPMed gnomAD
rs1007752268 CA409245421	37	D>N		No	ClinGen gnomAD
CA315657586 rs1007752268	37	D>Y		No	ClinGen gnomAD
rs1335322267 CA409245414	38	P>A		No	ClinGen TOPMed gnomAD
CA9882831 rs749100172	39	S>C		No	ClinGen ExAC TOPMed gnomAD
CA9882830 rs777749062	41	T>M		No	ClinGen ExAC gnomAD
CA9882829 rs756052563	42	R>Q		No	ClinGen ExAC gnomAD
rs1344200107 CA409245343	42	R>W		No	ClinGen gnomAD
rs1320310750 CA409245330	43	A>S		No	ClinGen gnomAD
rs1420703209 CA409245327	43	A>V		No	ClinGen gnomAD
CA409245295 rs1160005250	45	R>H		No	ClinGen gnomAD
CA9882826 rs201696722	46	V>L		No	ClinGen ExAC TOPMed gnomAD
CA409245250 rs1176182997	48	S>N		No	ClinGen gnomAD
rs1223123882 CA409245234	49	F>L		No	ClinGen TOPMed
rs1261357892 CA409245213	50	A>V		No	ClinGen TOPMed
CA409245126 rs1488529070	54	C>Y		No	ClinGen gnomAD
rs751226057 CA9882825	55	F>L		No	ClinGen ExAC gnomAD
CA9882824 rs766087342	55	F>S		No	ClinGen ExAC gnomAD
CA409245059 rs1350205259	56	S>I		No	ClinGen TOPMed gnomAD
rs998582224 CA315657525	57	R>C		No	ClinGen TOPMed
CA9882823 rs762225358	57	R>H		No	ClinGen ExAC gnomAD
rs754205578 CA9882822	58	E>K		No	ClinGen ExAC gnomAD
rs761120775 CA409244975	61	A>S		No	ClinGen ExAC gnomAD
rs761120775 CA9882820	61	A>T		No	ClinGen ExAC gnomAD
CA9882819 rs775665320	62	P>L		No	ClinGen ExAC gnomAD
rs759769992 CA9882816	64	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs759769992 CA409244931	64	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA409244926 rs1411106373	64	Q>R		No	ClinGen TOPMed
CA9882815 rs368326723	65	V>F		No	ClinGen ESP ExAC gnomAD
rs528258187 CA9882813	68	V>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1036066389 CA409244783	70	I>M		No	ClinGen gnomAD
rs1006542703 CA315657387	71	E>K		No	ClinGen gnomAD
rs1257137014 CA409244731	72	E>V		No	ClinGen TOPMed gnomAD
CA9882810 rs370766713	75	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs370766713 CA9882811	75	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs370766713 CA409244651	75	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1219833973 CA409244627	77	W>R		No	ClinGen gnomAD
rs1320651226 CA409244606	78	C>S		No	ClinGen gnomAD
CA409244573 rs1376773374	79	G>V		No	ClinGen gnomAD
rs780622243 CA9882809	80	H>R		No	ClinGen ExAC gnomAD
CA409244517 rs1341387293	82	R>L		No	ClinGen gnomAD
rs754488490 CA9882808	84	G>C		No	ClinGen ExAC TOPMed gnomAD
rs1398591281 CA409244415	88	L>P		No	ClinGen TOPMed gnomAD
CA409244417 rs1398591281	88	L>Q		No	ClinGen TOPMed gnomAD
rs754192592 CA9882804	89	D>A		No	ClinGen ExAC TOPMed gnomAD
CA9882802 rs371697801	90	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9882803 rs147002068	90	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9882801 rs753265610	92	S>R		No	ClinGen ExAC gnomAD
rs1242705928 CA409244373	93	L>P		No	ClinGen gnomAD
rs768208937 CA9882800	94	A>P		No	ClinGen ExAC gnomAD
CA409244370 rs768208937	94	A>T		No	ClinGen ExAC gnomAD
rs759671206 CA9882799	94	A>V		No	ClinGen ExAC TOPMed gnomAD
CA409244361 rs774618285	95	P>S		No	ClinGen ExAC gnomAD
rs774618285 CA9882798	95	P>T		No	ClinGen ExAC gnomAD
rs763114110 CA9882796	97	P>H		No	ClinGen ExAC gnomAD
rs773009939 CA9882795 COSM3841148	98	E>*	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA9882794 rs769489400	98	E>D		No	ClinGen ExAC gnomAD
rs773009939 CA409244328	98	E>K		No	ClinGen ExAC gnomAD
CA9882793 rs748011126	99	F>S		No	ClinGen ExAC gnomAD
rs1355757461 CA409244285	101	L>V		No	ClinGen gnomAD
CA409244264 rs1163597968	102	P>L		No	ClinGen TOPMed gnomAD
rs1326845492 CA409244277	102	P>T		No	ClinGen gnomAD
rs746492590 CA9882790	103	D>Y		No	ClinGen ExAC gnomAD
rs779463501 CA9882789	104	L>P		No	ClinGen ExAC gnomAD
rs1601135319 CA409244178	106	N>K		No	ClinGen Ensembl
rs368146968 CA9882788	109	H>Y		No	ClinGen ESP ExAC gnomAD
rs1384850852 CA409244094	110	T>I		No	ClinGen TOPMed gnomAD
rs745522640 CA9882787	112	V>L		No	ClinGen ExAC TOPMed gnomAD
CA409243898 rs1378359905	119	H>N		No	ClinGen TOPMed gnomAD
CA9882786 rs6032577	119	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA9882784 rs756546707	120	N>I		No	ClinGen ExAC gnomAD
CA9882782 rs768110929	123	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1424372833 CA409243827	124	R>Q		No	ClinGen TOPMed
CA9882781 rs755579511	124	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1223984971 CA409243790	127	R>C		No	ClinGen gnomAD
CA409243785 rs1374929338	127	R>H		No	ClinGen TOPMed gnomAD
CA409243788 rs1374929338	127	R>L		No	ClinGen TOPMed gnomAD
rs751615450 CA9882780	128	P>S		No	ClinGen ExAC gnomAD
CA9882778 rs370061686	131	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs370061686 CA9882779	131	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA409243728 rs1331639655	132	A>T		No	ClinGen gnomAD
CA409243716 rs773310703	133	A>E		No	ClinGen ExAC TOPMed gnomAD
CA9882777 rs773310703	133	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1159549952 CA409243690	135	P>S		No	ClinGen gnomAD
rs1405948116 CA409243646	138	P>L		No	ClinGen gnomAD
CA9882773 rs776450846	139	P>L		No	ClinGen ExAC TOPMed gnomAD
CA9882772 rs768542235	140	T>A		No	ClinGen ExAC TOPMed gnomAD
CA315657166 rs925536240	142	L>R		No	ClinGen Ensembl
CA9882769 rs771490340	143	V>M		No	ClinGen ExAC TOPMed gnomAD
rs745453673 CA9882768	144	E>K		No	ClinGen ExAC TOPMed gnomAD
CA409243546 rs1222709014	146	Y>H		No	ClinGen gnomAD
CA9882766 rs757016726	148	R>C		No	ClinGen ExAC TOPMed gnomAD
CA409243515 rs201162863	149	I>F		No	ClinGen Ensembl
rs201162863 CA315657129	149	I>L		No	ClinGen Ensembl
rs781712783 CA9882764	150	E>K		No	ClinGen ExAC
rs1030456894 CA315657112	151	Q>R		No	ClinGen gnomAD
CA9882763 rs755490733	153	R>C		No	ClinGen ExAC gnomAD
CA409243447 rs1432580159	153	R>H		No	ClinGen gnomAD
CA409243449 rs1432580159	153	R>P		No	ClinGen gnomAD
rs766414314 CA409243439	154	I>F		No	ClinGen ExAC TOPMed gnomAD
rs766414314 CA9882761	154	I>L		No	ClinGen ExAC TOPMed gnomAD
rs1415125275 CA409243413	156	R>W		No	ClinGen gnomAD
CA315657068 rs997216847	158	R>C		No	ClinGen Ensembl
CA409243384 rs1431530585	158	R>H		No	ClinGen gnomAD
rs997216847 CA409243387	158	R>S		No	ClinGen Ensembl
rs1480381625 CA409243373	159	L>P		No	ClinGen TOPMed gnomAD
CA409243374 rs1480381625	159	L>Q		No	ClinGen TOPMed gnomAD
CA409243349 rs1485058158	161	G>S		No	ClinGen gnomAD
CA9882757 rs762055789	162	R>C		No	ClinGen ExAC TOPMed gnomAD
CA409243312 rs1461431149	164	R>G		No	ClinGen gnomAD
CA409243301 rs1221663819	165	P>T		No	ClinGen gnomAD
rs998666789 CA315657033	166	G>V		No	ClinGen TOPMed
CA9882756 rs753583076	167	L>H		No	ClinGen ExAC gnomAD
rs961855068 CA315657024	168	Y>H		No	ClinGen gnomAD
TCGA novel	168	Y>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409243250 rs1383522896	169	S>R		No	ClinGen TOPMed
CA409243238 rs1269894317	169	S>R		No	ClinGen gnomAD
rs1245138237 CA409243208	172	L>W		No	ClinGen TOPMed
rs763893268 CA9882755	173	D>H		No	ClinGen ExAC TOPMed gnomAD
rs760597081 CA409243157 CA9882753	176	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1014990420 CA315657008	176	Y>C		No	ClinGen Ensembl
rs1352496177 CA409243166	176	Y>H		No	ClinGen TOPMed
rs772110184 CA9882752	177	E>K		No	ClinGen ExAC gnomAD
rs772110184 CA9882751	177	E>Q		No	ClinGen ExAC gnomAD
CA315657001 rs1005907488	179	N>I		No	ClinGen Ensembl
CA409243129 rs1173090985	179	N>K		No	ClinGen gnomAD
rs1427168697 CA409243126	180	V>L		No	ClinGen gnomAD
rs780412328 CA9882743	185	A>E		No	ClinGen ExAC TOPMed gnomAD
rs747472921 CA9882744	185	A>T		No	ClinGen ExAC gnomAD
CA409243076 rs780412328	185	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1305587420 CA409243034	189	R>L		No	ClinGen gnomAD
rs1034237882 CA315656942	191	G>S		No	ClinGen Ensembl
CA409243006 rs1385273201	193	L>F		No	ClinGen TOPMed gnomAD
CA409243009 rs1385273201	193	L>I		No	ClinGen TOPMed gnomAD
rs778987917 CA9882740	193	L>P		No	ClinGen ExAC gnomAD
TCGA novel	195	C>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754067203 CA9882738	195	C>F		No	ClinGen ExAC TOPMed gnomAD
rs573188133 CA9882737	196	P>L		No	ClinGen ExAC gnomAD
rs1001455876 CA315656932	196	P>S		No	ClinGen TOPMed gnomAD
rs376732514 CA9882736	197	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1426872358 CA409242959	198	P>A		No	ClinGen TOPMed gnomAD
rs1386737894 CA409242943	199	D>V		No	ClinGen gnomAD
CA9882735 rs752590233	200	G>S		No	ClinGen ExAC TOPMed gnomAD
CA409242926 rs1443530084	201	T>M		No	ClinGen gnomAD
rs1250573517 CA409242908	203	D>N		No	ClinGen gnomAD
rs142373830 CA409242894	204	M>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9882734 rs142373830	204	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9882733 rs759545007	205	H>D		No	ClinGen ExAC gnomAD
rs892577789 CA315656889	205	H>Q		No	ClinGen TOPMed
CA409242869 rs1332070278	206	I>N		No	ClinGen TOPMed
CA409242854 rs1222996023	208	I>V		No	ClinGen gnomAD
rs1052969252 CA315656888	209	N>D		No	ClinGen Ensembl
rs1601134553 CA409242804	209	N>K		No	ClinGen Ensembl
VAR_052033 CA9882731 rs35342327	211	E>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs770575809 CA9882730	211	E>V		No	ClinGen ExAC gnomAD
rs1309220791 CA409242764	212	D>N		No	ClinGen TOPMed gnomAD
CA409242736 rs1351226385	213	M>I		No	ClinGen gnomAD
rs762625310 CA9882729 CA315656859	213	M>L		No	ClinGen ExAC gnomAD
rs577241918 CA9882728	213	M>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA409242726 rs1304237273	214	G>S		No	ClinGen gnomAD
CA9882727 rs747935206	215	P>L		No	ClinGen ExAC gnomAD
rs747304562 CA9882726	216	S>R		No	ClinGen ExAC gnomAD
rs1224904912 CA409242674	217	A>T		No	ClinGen TOPMed
rs1457088451 CA409242651	218	R>Q		No	ClinGen TOPMed gnomAD
rs986305470 CA315656815	219	G>E		No	ClinGen gnomAD
CA409242606 rs1490791300	221	P>L		No	ClinGen gnomAD
rs1200033813 CA409242612	221	P>S		No	ClinGen gnomAD
rs1200033813 CA409242618	221	P>T		No	ClinGen gnomAD
CA9882722 rs746401969	222	A>D		No	ClinGen ExAC gnomAD
rs1199264362 CA409242569	223	A>G		No	ClinGen TOPMed
rs753980880 CA9882717	225	P>H		No	ClinGen ExAC TOPMed gnomAD
CA409242538 rs1316363090	225	P>S		No	ClinGen gnomAD
rs367770819 CA9882713	227	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA409242489 rs1481550218	228	A>V		No	ClinGen TOPMed
CA9882711 rs767364546	230	V>E		No	ClinGen ExAC TOPMed gnomAD
CA315656734 rs909960503	230	V>M		No	ClinGen TOPMed gnomAD
rs766490144 CA9882708	231	D>E		No	ClinGen ExAC gnomAD
CA9882710 rs754812339	231	D>Y		No	ClinGen ExAC gnomAD
CA409242428 rs762537945 CA9882707	232	V>L		No	ClinGen ExAC TOPMed gnomAD
CA409242430 rs762537945	232	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1481369634 CA409242335	237	K>E		No	ClinGen gnomAD
TCGA novel	237	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409242304 rs1327948931	238	S>C		No	ClinGen TOPMed
rs764757463 CA9882705	238	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1447321272 CA409242237	241	L>P		No	ClinGen gnomAD
TCGA novel	241	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	243	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9882702 rs772492087	245	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA409242120 rs1263822834	246	Y>C		No	ClinGen gnomAD
CA409242104 rs150038641	247	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs150038641 CA9882700	247	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs139661012 CA9882667	249	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1442221291 CA409241699	249	P>S		No	ClinGen gnomAD
TCGA novel	251	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766740148 CA9882664	251	L>R		No	ClinGen ExAC gnomAD
CA409241681 rs1175927767	252	Q>R		No	ClinGen TOPMed
CA9882662 rs763381350	255	C>Y		No	ClinGen ExAC gnomAD
rs773767068 CA9882661	256	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9882660 rs532908989	256	R>H	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA315655259 rs967553598	258	V>A		No	ClinGen TOPMed gnomAD
rs967553598 CA409241647	258	V>E		No	ClinGen TOPMed gnomAD
CA9882658 rs199882983	259	I>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768950429 CA9882657	259	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1449524605 CA409241613	263	M>T		No	ClinGen gnomAD
CA315655240 rs1020322686	263	M>V		No	ClinGen TOPMed gnomAD
CA9882656 rs747247541	264	V>E		No	ClinGen ExAC gnomAD
rs371277500 CA409241608	264	V>L		No	ClinGen ESP TOPMed gnomAD
CA315655235 rs371277500	264	V>M		No	ClinGen ESP TOPMed gnomAD
TCGA novel	265	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772315925 CA315655224	266	R>Q		No	ClinGen gnomAD
CA9882655 rs377646244	266	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA409241576 rs1345978326	269	I>M		No	ClinGen gnomAD
CA409241578 rs1227709564	269	I>T		No	ClinGen gnomAD
CA9882654 rs771986354	272	L>P		No	ClinGen ExAC gnomAD
rs745706286 CA409241555	273	H>D		No	ClinGen ExAC gnomAD
rs745706286 CA9882653	273	H>Y		No	ClinGen ExAC gnomAD
CA9882652 rs778884714	274	L>R		No	ClinGen ExAC gnomAD
rs146400005 CA9882650	276	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs146400005 CA9882651	276	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
COSM724429 rs1283461918 CA409241531	277	E>*	lung Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1405845984 CA409241526	277	E>D		No	ClinGen TOPMed gnomAD
rs777174780 TCGA novel CA9882649	279	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC gnomAD
rs755709691 CA9882648	280	D>G		No	ClinGen ExAC gnomAD
rs866012943 CA315655196	281	F>I		No	ClinGen Ensembl
CA315655189 rs1023118810	282	C>R		No	ClinGen Ensembl
CA409241495 rs1432006369	282	C>S		No	ClinGen TOPMed gnomAD
CA409241488 rs1338223832	283	K>R		No	ClinGen gnomAD
rs752353704 CA9882647	284	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	286	E>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q9BR09

2 regional properties for Q9BR09

Type	Name	Position	InterPro Accession
domain	SOCS box domain	248 - 285	IPR001496
domain	Neuralized homology repeat (NHR) domain	21 - 244	IPR006573

Functions

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

1 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.

1 GO annotations of molecular function

Name	Definition
ubiquitin protein ligase activity	Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond: an isopeptide bond between the C-terminal glycine of ubiquitin and the epsilon-amino group of lysine residues in the substrate or, in the linear extension of ubiquitin chains, a peptide bond the between the C-terminal glycine and N-terminal methionine of ubiquitin residues.

1 GO annotations of biological process

Name	Definition
intracellular signal transduction	The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5M870	Neurl3	E3 ubiquitin-protein ligase NEURL3	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MAAASEPVDS	GALWGLERPE	PPPTRFHRVH	GANIRVDPSG	TRATRVESFA	HGVCFSREPL
70	80	90	100	110	120
APGQVFLVEI	EEKELGWCGH	LRLGLTALDP	ASLAPVPEFS	LPDLVNLGHT	WVFAITRHHN
130	140	150	160	170	180
RVPREGRPEA	EAAAPSRPPT	LLVEPYLRIE	QFRIPRDRLV	GRSRPGLYSH	LLDQLYELNV
190	200	210	220	230	240
LPPTARRSRL	GVLFCPRPDG	TADMHIIING	EDMGPSARGL	PAAQPLYAVV	DVFASTKSVR
250	260	270	280
LVQLEYGLPS	LQTLCRLVIQ	RSMVHRLAID	GLHLPKELKD	FCKYE