AiPD: Autoinhibited Protein Database

Q9NPH3

Gene name	IL1RAP (C3orf13, IL1R3)
Protein name	Interleukin-1 receptor accessory protein
Names	IL-1 receptor accessory protein, IL-1RAcP, Interleukin-1 receptor 3, IL-1R-3, IL-1R3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:3556
EC number	3.2.2.6: Hydrolyzing N-glycosyl compounds
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

520-570 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

520-570 (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

4 structures for Q9NPH3

Entry ID	Method	Resolution	Chain	Position	Source
3O4O	X-ray	330 A	B	21-350	PDB
4DEP	X-ray	310 A	C/F	21-367	PDB
7FCC	X-ray	214 A	A	403-549	PDB
AF-Q9NPH3-F1	Predicted				AlphaFoldDB

289 variants for Q9NPH3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1347728799 CA355761507	3	L>I		No	ClinGen gnomAD
CA89746844 rs200782803	4	L>R		No	ClinGen Ensembl
rs1288207046 CA355761535	5	W>R		No	ClinGen gnomAD
CA2754169 rs566025932	6	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2754170 rs750808388	10	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA355761699 rs1221801860	12	F>V		No	ClinGen gnomAD
rs1293525341 CA355761737	13	Y>C		No	ClinGen gnomAD
CA355761811 rs1222985731	17	Q>K		No	ClinGen TOPMed
CA355761823 rs1481919436	17	Q>P		No	ClinGen gnomAD
TCGA novel	21	S>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376511516 CA2754201	23	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs145747140 CA2754202	23	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA89772626 rs376511516	23	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA355769936 rs753806683	24	C>*		No	ClinGen ExAC gnomAD
CA355769942 rs1337807698	25	D>G		No	ClinGen TOPMed
rs376392541 CA89772639 COSM479847	25	D>N	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP NCI-TCGA gnomAD
rs1577705432 CA355769960	26	D>A		No	ClinGen Ensembl
CA2754204 rs757228445	27	W>*		No	ClinGen ExAC gnomAD
CA355770005 rs1301507571	30	D>A		No	ClinGen TOPMed
rs778749832 CA355770015	30	D>E		No	ClinGen ExAC TOPMed gnomAD
CA355770043 rs1245013598	32	M>K		No	ClinGen gnomAD
TCGA novel	39	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA89772651 rs574990034	39	E>V		No	ClinGen Ensembl
CA2754206 rs745712330	40	D>N		No	ClinGen ExAC TOPMed gnomAD
CA2754208 rs781271382	44	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2754209 rs138967210	44	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770012788 CA2754210	45	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1470176242 CA355770312	46	K>E		No	ClinGen TOPMed
rs773812945 CA2754212	49	L>F		No	ClinGen ExAC gnomAD
CA355770360 rs1577705682	52	H>Q		No	ClinGen Ensembl
rs1320741454 CA355770388	56	F>S		No	ClinGen gnomAD
CA89772665 rs767720285	56	F>V		No	ClinGen gnomAD
rs762750761 CA89772668	57	N>S		No	ClinGen gnomAD
rs774764278 CA2754215	58	Y>H		No	ClinGen ExAC gnomAD
CA2754217 rs767140030	64	A>D		No	ClinGen ExAC gnomAD
COSM1670781 rs1266189287 CA355770453	66	L>F	skin [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA355770452 rs1266189287	66	L>V		No	ClinGen TOPMed gnomAD
CA355770488 rs1472539010	71	Y>C		No	ClinGen gnomAD
rs1370549494 CA355770517	75	Q>P		No	ClinGen gnomAD
rs763566685 CA2754220	76	D>G		No	ClinGen ExAC TOPMed gnomAD
CA355770529 rs1448946594	77	R>G		No	ClinGen gnomAD
CA355770530 COSM320969 rs1448946594	77	R>W	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA355770556 rs1197083545	81	E>K		No	ClinGen gnomAD
CA355770595 rs1480983914	86	R>C		No	ClinGen gnomAD
rs763802602 CA89772687	86	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1410418717 CA355770605	88	P>S		No	ClinGen gnomAD
CA355770610 rs1158634657	89	E>K		No	ClinGen gnomAD
CA2754224 rs750161003	91	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA355770630 rs750161003	91	R>L		No	ClinGen ExAC gnomAD
rs1386571220 CA355770626	91	R>S		No	ClinGen gnomAD
CA355770637 rs1402497798	92	I>M		No	ClinGen TOPMed gnomAD
CA355770632 rs1364440220	92	I>V		No	ClinGen gnomAD
rs1309287865 CA355770650	94	K>R		No	ClinGen gnomAD
CA355770657 rs1322513589	95	E>A		No	ClinGen gnomAD
CA89772691 rs200829062	95	E>D		No	ClinGen TOPMed
rs1331423394 CA355770677	98	V>M		No	ClinGen gnomAD
rs376100551 CA89772694	100	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA2754225 rs145454692	100	W>R		No	ClinGen ESP ExAC
CA2754226 rs376100551	100	W>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	101	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2754227 rs748414876	103	P>S		No	ClinGen ExAC
TCGA novel	104	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355770714 rs1286312651	104	T>S		No	ClinGen gnomAD
CA355770716 rs1349795548	104	T>S		No	ClinGen gnomAD
CA89772697 rs901987063	105	L>F		No	ClinGen TOPMed
CA355770764 rs1261359114	111	N>K		No	ClinGen gnomAD
CA2754229 rs777978848	113	T>N		No	ClinGen ExAC gnomAD
CA355770787 rs749437889	115	M>L		No	ClinGen ExAC gnomAD
rs749437889 CA2754230	115	M>V		No	ClinGen ExAC gnomAD
CA355771063 rs1385385815	118	N>S		No	ClinGen gnomAD
rs779434567 CA2754251	120	T>K		No	ClinGen ExAC
CA355771089 rs1462324618	122	C>Y		No	ClinGen gnomAD
CA89774784 rs1035599132	123	S>N		No	ClinGen Ensembl
CA2754254 rs775816959	123	S>R		No	ClinGen ExAC gnomAD
CA2754255 rs747438078	133	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA2754256 rs768226877	135	D>G		No	ClinGen ExAC gnomAD
rs776275775 CA2754257	136	S>I		No	ClinGen ExAC TOPMed gnomAD
CA355771198 rs776275775	136	S>N		No	ClinGen ExAC TOPMed gnomAD
CA89774807 rs776275775	136	S>T		No	ClinGen ExAC TOPMed gnomAD
CA89774808 rs773358741	137	C>Y		No	ClinGen Ensembl
CA2754260 rs772821292	139	N>K		No	ClinGen ExAC TOPMed gnomAD
CA2754259 rs764688136	139	N>S		No	ClinGen ExAC gnomAD
rs766484092 CA2754262	142	M>K		No	ClinGen ExAC gnomAD
CA2754261 rs762780015	142	M>V		No	ClinGen ExAC TOPMed gnomAD
rs751397200 CA2754263	144	L>F		No	ClinGen ExAC gnomAD
CA2754265 rs764362571	148	K>R		No	ClinGen ExAC gnomAD
CA2754267 rs757538570	151	I>M		No	ClinGen ExAC TOPMed gnomAD
rs754144368 CA2754266	151	I>V		No	ClinGen ExAC gnomAD
TCGA novel	153	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2754269 rs750572436	156	Q>R		No	ClinGen ExAC gnomAD
CA355771433 rs1177115005	157	R>K		No	ClinGen gnomAD
CA89774858 rs142900729	163	V>L		No	ClinGen 1000Genomes
CA355771486 rs1454661687	165	G>R		No	ClinGen gnomAD
rs747311619 CA2754272	169	S>P		No	ClinGen ExAC gnomAD
CA355771520 rs1383049438	170	S>G		No	ClinGen gnomAD
CA2754273 rs769034745	173	P>L		No	ClinGen ExAC gnomAD
CA355771542 rs1192556052	173	P>T		No	ClinGen TOPMed
CA2754275 rs747727068	174	T>I		No	ClinGen ExAC TOPMed gnomAD
CA89774892 rs200079040	175	I>M		No	ClinGen Ensembl
rs200352562 CA2754276	175	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2754277 rs772585147	176	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1345736279 CA355771573	178	Y>C		No	ClinGen TOPMed
rs1267011263 CA355771571	178	Y>H		No	ClinGen gnomAD
rs770927143 CA2754279	179	M>T		No	ClinGen ExAC
rs1445065273 CA355760033	180	G>D		No	ClinGen TOPMed gnomAD
CA355760039 rs1381460031	181	C>F		No	ClinGen gnomAD
rs1452866079 CA355760049	182	Y>F		No	ClinGen gnomAD
CA355760062 rs1316746921	184	I>V		No	ClinGen gnomAD
rs1339732725 CA355760067	185	Q>K		No	ClinGen gnomAD
rs1260993472 CA355760080	186	N>I		No	ClinGen TOPMed
rs1217265865 CA355760081	186	N>K		No	ClinGen TOPMed
TCGA novel	187	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750676408 CA2754315	189	N>D		No	ClinGen ExAC
rs762984013 CA2754316	192	P>S		No	ClinGen ExAC gnomAD
CA2754318 rs751690679	193	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1560219706 CA355760131	194	G>S		No	ClinGen Ensembl
CA2754320 rs768138013	195	M>R		No	ClinGen ExAC gnomAD
CA2754322 rs756516422	198	S>N		No	ClinGen ExAC gnomAD
CA2754323 rs575642189	200	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA89741972 rs368254828	201	I>T		No	ClinGen Ensembl
rs1420732116 CA355760187	202	A>P		No	ClinGen gnomAD
CA355760213 rs1412103985	206	N>D		No	ClinGen TOPMed gnomAD
CA355760212 rs1412103985	206	N>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs372430202 CA2754326	213	V>I		No	ClinGen ExAC gnomAD
TCGA novel	217	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355760308 rs1427741341	219	N>I		No	ClinGen TOPMed
rs150231780 CA2754330 COSM1421648	221	R>C	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed
CA2754331 rs138701697	221	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs143309112 CA2754332	222	T>M		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA355760348 rs1326262118	226	T>A		No	ClinGen TOPMed
CA2754334 rs181996198	231	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2754335 rs181996198	231	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759617540 CA2754336	232	K>Q		No	ClinGen ExAC gnomAD
rs767856130 CA2754337	232	K>R		No	ClinGen ExAC gnomAD
TCGA novel	239	N>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355760442 rs1361515083	239	N>S		No	ClinGen gnomAD
CA355760467 rs1158728802	243	P>A		No	ClinGen gnomAD
CA2754359 rs764574014	245	I>M		No	ClinGen ExAC gnomAD
CA2754361 rs764930936	252	V>L		No	ClinGen ExAC gnomAD
rs750127506 CA2754362	253	V>F		No	ClinGen ExAC
CA2754363 rs758022702	254	Y>C		No	ClinGen ExAC gnomAD
rs1243378842 CA355760723	260	E>D		No	ClinGen gnomAD
CA355760712 rs1182534655	260	E>K		No	ClinGen gnomAD
rs1446148543 CA355760726	261	E>K		No	ClinGen gnomAD
rs1446148543 CA355760728	261	E>Q		No	ClinGen gnomAD
CA2754409 rs762384434	265	P>R		No	ClinGen ExAC TOPMed gnomAD
rs41346249 CA2754411	267	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2754410 rs41346249	267	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2754413 rs766002330	269	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2754414 rs773899312	272	F>L		No	ClinGen ExAC gnomAD
rs766983457 CA2754416	274	M>L		No	ClinGen ExAC TOPMed gnomAD
rs1293843523 CA355760850	275	D>Y		No	ClinGen gnomAD
CA2754417 rs146307187	277	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2754418 COSM3333266 rs756041268	277	R>H	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2754419 rs764021962	278	N>S		No	ClinGen ExAC gnomAD
CA355760879 rs1202476066	279	E>D		No	ClinGen gnomAD
rs753609240 CA2754420	279	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA89747796 rs953133392	280	V>I		No	ClinGen TOPMed gnomAD
TCGA novel	283	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs571755247 CA2754422	285	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA89747854 rs911406422	286	G>E		No	ClinGen TOPMed
rs781411548 CA2754426	287	K>N		No	ClinGen ExAC TOPMed gnomAD
rs780458834	288	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	289	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2754427 rs748308642	289	P>T		No	ClinGen ExAC gnomAD
CA89747875 rs944232885	290	D>N		No	ClinGen TOPMed gnomAD
CA2754428 rs770361063	291	D>G		No	ClinGen ExAC gnomAD
TCGA novel	291	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1467736796 CA355760970	293	T>A		No	ClinGen gnomAD
CA2754429 rs773608948	293	T>I		No	ClinGen ExAC TOPMed gnomAD
rs773608948 CA355760972	293	T>N		No	ClinGen ExAC TOPMed gnomAD
CA2754430 rs527619921	294	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA89747918 rs867673760	298	I>M		No	ClinGen Ensembl
rs1399185076 CA355761002	298	I>V		No	ClinGen gnomAD
CA355761336 rs774566906	301	S>R		No	ClinGen ExAC gnomAD
rs373286124 CA2754433	301	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1419858443 CA355761338	302	I>V		No	ClinGen gnomAD
CA355761347 rs1160718045	303	S>N		No	ClinGen gnomAD
rs1410970238 CA355761361	305	S>G		No	ClinGen gnomAD
CA2754457 rs145987111	306	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA355761369 rs1164703037	306	R>K		No	ClinGen gnomAD
rs1352119522 CA355761413	312	R>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA89749320 rs148674484	314	Q>L		No	ClinGen ESP gnomAD
rs148674484 CA355761427	314	Q>P		No	ClinGen ESP gnomAD
CA2754459 rs530481089	319	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs768015847 CA2754460	320	K>E		No	ClinGen ExAC gnomAD
CA2754462 rs761639965	324	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1246431021 CA355761588	325	D>A		No	ClinGen gnomAD
CA2754463 rs765289775	327	K>R		No	ClinGen ExAC gnomAD
CA2754464 rs750120679	328	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2754465 rs142111398	328	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2754466 rs376236710	329	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA355761676 rs1180685636	330	Y>H		No	ClinGen gnomAD
rs150751940 CA2754469	335	R>K		No	ClinGen ESP ExAC gnomAD
rs754008838 CA2754470	336	S>G		No	ClinGen ExAC TOPMed gnomAD
CA89749426 rs139016934	336	S>N		No	ClinGen ESP TOPMed
rs779485745 CA2754472	339	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM3591300 CA355761872 rs1359680337	340	E>K	pancreas Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA2754473 rs746181729	343	K>R		No	ClinGen ExAC gnomAD
TCGA novel	344	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355761934 rs1577778158	344	A>P		No	ClinGen Ensembl
CA355761936 rs1466734320	344	A>V		No	ClinGen gnomAD
rs780432173 CA2754475	347	V>M		No	ClinGen ExAC gnomAD
TCGA novel	350	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759387430 CA2754503	351	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1404724797 CA355763097	354	P>A		No	ClinGen TOPMed
TCGA novel	354	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	354	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764171428 CA2754504	355	R>G		No	ClinGen ExAC gnomAD
TCGA novel	355	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355763107 rs1478079389	355	R>S		No	ClinGen TOPMed gnomAD
rs1471253135 CA355763109	356	Y>H		No	ClinGen TOPMed
rs947258116 CA89760173	357	T>A		No	ClinGen TOPMed
rs947258116 CA89760157	357	T>P		No	ClinGen TOPMed
rs776942883 CA2754505	357	T>R		No	ClinGen ExAC TOPMed gnomAD
CA2754506 rs761981173	359	E>D		No	ClinGen ExAC gnomAD
CA89760195 rs112866034	360	L>P		No	ClinGen Ensembl
CA355763138 rs1450130687	361	A>P		No	ClinGen Ensembl
TCGA novel	361	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750555874 CA2754508	362	C>F		No	ClinGen ExAC TOPMed gnomAD
rs750555874 CA2754509	362	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1344890301 CA355763173	366	A>V		No	ClinGen gnomAD
CA89760242 rs1049924384	367	T>A		No	ClinGen gnomAD
rs766873173 CA2754510	367	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1243839265 CA355763198	371	V>A		No	ClinGen TOPMed
CA355763205 rs1577817373	372	V>G		No	ClinGen Ensembl
TCGA novel	372	V>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355763222 rs571170555	375	I>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2754513 rs571170555	375	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs141817756 CA89760307	375	I>V		No	ClinGen ESP
rs1287136251 CA355763226	376	V>F		No	ClinGen gnomAD
TCGA novel	379	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355763256 rs1452762979	380	V>G		No	ClinGen gnomAD
CA2754515 rs780672298	380	V>I		No	ClinGen ExAC gnomAD
CA2754516 rs747809586	381	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	382	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2754517 rs755772153	384	E>K		No	ClinGen ExAC gnomAD
CA355763289 rs1450692472	385	M>T		No	ClinGen gnomAD
rs1381884839 CA548492065	389	Y>*		No	ClinGen gnomAD
rs774450817 CA2754521	390	R>Q		No	ClinGen ExAC gnomAD
CA2754520 rs770927268	390	R>W		No	ClinGen ExAC gnomAD
rs745608321 CA2754522	392	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs533752329 CA355763351	395	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs533752329 CA2754524	395	T>P		No	ClinGen 1000Genomes ExAC gnomAD
rs533752329 CA2754523	395	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1441679083 CA355763361	396	D>E		No	ClinGen gnomAD
CA2754525 rs762077034	396	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1297190587 CA355763355	396	D>N		No	ClinGen TOPMed
rs765508064 CA2754526	399	I>V		No	ClinGen ExAC gnomAD
CA2754527 rs547055700	400	L>S		No	ClinGen 1000Genomes ExAC gnomAD
CA355763423 rs1259485877	404	E>Q		No	ClinGen gnomAD
rs1459674535 CA355763427	404	E>V		No	ClinGen TOPMed gnomAD
CA355763452 rs1444721240	407	I>M		No	ClinGen TOPMed
CA355763451 rs1560242516	407	I>T		No	ClinGen Ensembl
rs1246906034 CA355763461	409	V>I		No	ClinGen TOPMed
CA2754544 rs779890832	410	S>P		No	ClinGen ExAC gnomAD
CA355763484 rs1190850226	411	Y>C		No	ClinGen gnomAD
TCGA novel	412	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2754547 rs773448408	415	A>E		No	ClinGen ExAC TOPMed gnomAD
CA355763538 rs773448408	415	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs774347153 CA2754551	418	E>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs770970743 CA2754550	418	E>K		No	ClinGen ExAC gnomAD
CA355763590 rs1302508698	419	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs767976748 CA2754553	419	E>A		No	ClinGen ExAC TOPMed gnomAD
CA355763593 rs767976748	419	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1005827686 CA89761488	421	V>L		No	ClinGen Ensembl
CA2754554 rs753039896 COSM1642206	426	R>H	stomach [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1316753217 CA355763678	426	R>S		No	ClinGen gnomAD
CA355763768 rs1320826067	432	E>D		No	ClinGen gnomAD
rs761135758 CA2754555	432	E>K		No	ClinGen ExAC gnomAD
rs1222456073 CA355763817	436	K>R		No	ClinGen gnomAD
CA355763855 rs1484070359	439	I>V		No	ClinGen gnomAD
CA355763869 rs1390672720	440	F>L		No	ClinGen TOPMed
CA89761509 rs969583593	442	R>Q		No	ClinGen TOPMed
CA355763958 rs1413695398	447	G>E		No	ClinGen TOPMed
TCGA novel	461	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201706120	463	R>C	Variant assessed as Somatic; 9.384e-05 impact. [NCI-TCGA]	No	NCI-TCGA
VAR_053383 rs34661910	473	V>M		No	UniProt dbSNP
rs148316157	493	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs769353082	493	R>W	Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA]	No	NCI-TCGA
rs770882561	520	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1217981832	523	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
RCV000785706 rs145613403	536	G>A		No	ClinVar dbSNP
TCGA novel	540	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	550	K>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	550	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs142653464	554	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs548470995	554	R>W	Variant assessed as Somatic; 9.252e-05 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	557	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q9NPH3

7 regional properties for Q9NPH3

Type	Name	Position	InterPro Accession
domain	Toll/interleukin-1 receptor homology (TIR) domain	403 - 565	IPR000157
domain	Immunoglobulin subtype	32 - 132	IPR003599-1
domain	Immunoglobulin subtype	145 - 232	IPR003599-2
domain	Immunoglobulin subtype	251 - 350	IPR003599-3
domain	Immunoglobulin-like domain	141 - 230	IPR007110-1
domain	Immunoglobulin-like domain	242 - 348	IPR007110-2
domain	IL-1Ra-like, immunoglobulin domain	69 - 139	IPR041416

Functions

		Description
EC Number	3.2.2.6	Hydrolyzing N-glycosyl compounds
Subcellular Localization	[Isoform 1]: Cell membrane; Single-pass type I membrane protein ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
glutamatergic synapse	A synapse that uses glutamate as a neurotransmitter.
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

5 GO annotations of molecular function

Name	Definition
interleukin-1 receptor activity	Combining with interleukin-1 to initiate a change in cell activity. Interleukin-1 is produced mainly by activated macrophages and is involved in the inflammatory response.
interleukin-1 receptor binding	Binding to an interleukin-1 receptor.
interleukin-33 receptor activity	Combining with interleukin-33 and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity.
NAD(P)+ nucleosidase activity	Catalysis of the reaction: NAD(P)+ + H2O = ADP-ribose(P) + nicotinamide.
NAD+ nucleotidase, cyclic ADP-ribose generating	Catalysis of the reaction: NAD+ + H2O = nicotinamide + ADP-ribose that proceeds in a stepwise fashion by ADP-ribosyl cyclase activity followed by cyclic ADP-ribose hydrolase activity.

14 GO annotations of biological process

Name	Definition
immune response	Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat.
inflammatory response	The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
innate immune response	Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
positive regulation of interleukin-13 production	Any process that activates or increases the frequency, rate, or extent of interleukin-13 production.
positive regulation of interleukin-4 production	Any process that activates or increases the frequency, rate, or extent of interleukin-4 production.
positive regulation of interleukin-5 production	Any process that activates or increases the frequency, rate, or extent of interleukin-5 production.
positive regulation of interleukin-6 production	Any process that activates or increases the frequency, rate, or extent of interleukin-6 production.
positive regulation of NF-kappaB transcription factor activity	Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB.
positive regulation of synapse assembly	Any process that activates, maintains or increases the frequency, rate or extent of synapse assembly, the aggregation, arrangement and bonding together of a set of components to form a synapse.
protein-containing complex assembly	The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex.
regulation of postsynaptic density assembly	Any process that modulates the frequency, rate or extent of postsynaptic density assembly, the aggregation, arrangement and bonding together of a set of components to form a postsynaptic density.
regulation of presynapse assembly	Any process that modulates the frequency, rate or extent of presynapse assembly.
synaptic membrane adhesion	The attachment of presynaptic membrane to postsynaptic membrane via adhesion molecules that are at least partially embedded in the plasma membrane.
trans-synaptic signaling by trans-synaptic complex	Cell-cell signaling between presynapse and postsynapse mediated by a trans-synaptic protein complex.

6 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P27930	IL1R2	Interleukin-1 receptor type 2	Homo sapiens (Human)	PR
P14778	IL1R1	Interleukin-1 receptor type 1	Homo sapiens (Human)	PR
Q61730	Il1rap	Interleukin-1 receptor accessory protein	Mus musculus (Mouse)	PR
P14719	Il1rl1	Interleukin-1 receptor-like 1	Mus musculus (Mouse)	PR
Q9Z2B1	Il18rap	Interleukin-18 receptor accessory protein	Mus musculus (Mouse)	PR
P13504	Il1r1	Interleukin-1 receptor type 1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MTLLWCVVSL	YFYGILQSDA	SERCDDWGLD	TMRQIQVFED	EPARIKCPLF	EHFLKFNYST
70	80	90	100	110	120
AHSAGLTLIW	YWTRQDRDLE	EPINFRLPEN	RISKEKDVLW	FRPTLLNDTG	NYTCMLRNTT
130	140	150	160	170	180
YCSKVAFPLE	VVQKDSCFNS	PMKLPVHKLY	IEYGIQRITC	PNVDGYFPSS	VKPTITWYMG
190	200	210	220	230	240
CYKIQNFNNV	IPEGMNLSFL	IALISNNGNY	TCVVTYPENG	RTFHLTRTLT	VKVVGSPKNA
250	260	270	280	290	300
VPPVIHSPND	HVVYEKEPGE	ELLIPCTVYF	SFLMDSRNEV	WWTIDGKKPD	DITIDVTINE
310	320	330	340	350	360
SISHSRTEDE	TRTQILSIKK	VTSEDLKRSY	VCHARSAKGE	VAKAAKVKQK	VPAPRYTVEL
370	380	390	400	410	420
ACGFGATVLL	VVILIVVYHV	YWLEMVLFYR	AHFGTDETIL	DGKEYDIYVS	YARNAEEEEF
430	440	450	460	470	480
VLLTLRGVLE	NEFGYKLCIF	DRDSLPGGIV	TDETLSFIQK	SRRLLVVLSP	NYVLQGTQAL
490	500	510	520	530	540
LELKAGLENM	ASRGNINVIL	VQYKAVKETK	VKELKRAKTV	LTVIKWKGEK	SKYPQGRFWK
550	560
QLQVAMPVKK	SPRRSSSDEQ	GLSYSSLKNV