AiPD: Autoinhibited Protein Database

P14778

Gene name	IL1R1 (IL1R, IL1RA, IL1RT1)
Protein name	Interleukin-1 receptor type 1
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:3554
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)

18-102 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

18-102 (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

6 structures for P14778

Entry ID	Method	Resolution	Chain	Position	Source
1G0Y	X-ray	300 A	R	21-332	PDB
1IRA	X-ray	270 A	Y	18-336	PDB
1ITB	X-ray	250 A	B	18-332	PDB
4DEP	X-ray	310 A	B/E	18-336	PDB
4GAF	X-ray	215 A	B	18-336	PDB
AF-P14778-F1	Predicted				AlphaFoldDB

365 variants for P14778

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA1808094 rs779905023	3	V>E		No	ClinGen ExAC gnomAD
rs200131321 CA1808096	7	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA347924042 rs1376344625	7	L>R		No	ClinGen TOPMed
rs200131321 CA1808097	7	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA1808098 rs761384702	8	I>T		No	ClinGen ExAC TOPMed gnomAD
CA1808099 rs771763567	9	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA347924064 rs1559495992	11	I>L		No	ClinGen Ensembl
rs144810374 CA52891523	11	I>M		No	ClinGen ESP gnomAD
rs1359694887 CA347924072	12	A>S		No	ClinGen TOPMed
rs998308685 CA52891547	13	L>P		No	ClinGen Ensembl
rs760125077 CA1808102	14	L>P		No	ClinGen ExAC gnomAD
TCGA novel	17	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1808110 rs750296992	24	K>T		No	ClinGen ExAC gnomAD
CA347927439 rs1205738901	25	E>Q		No	ClinGen TOPMed
rs56337419 CA1808111	26	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1808112 rs779664597	26	R>H		No	ClinGen ExAC TOPMed gnomAD
CA347927458 rs779664597	26	R>P		No	ClinGen ExAC TOPMed gnomAD
rs113620360 CA1808113	27	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA1808114 rs754771479	28	E>V		No	ClinGen ExAC gnomAD
TCGA novel	30	I>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1401939230 CA347927514	30	I>M		No	ClinGen TOPMed gnomAD
CA347927540 rs1309826161	33	V>L		No	ClinGen TOPMed
CA347927558 rs1374298333	34	S>L		No	ClinGen TOPMed
rs201587813 CA1808115	35	S>C		No	ClinGen ExAC gnomAD
rs747874532 CA1808116	36	A>S		No	ClinGen ExAC gnomAD
rs771640827 CA1808117	37	N>D		No	ClinGen ExAC gnomAD
CA1808118 rs772861436	38	E>A		No	ClinGen ExAC TOPMed gnomAD
rs746323923 CA1808119	40	D>G		No	ClinGen ExAC gnomAD
rs770360631 CA1808120	41	V>G		No	ClinGen ExAC gnomAD
rs867221636 CA52887514	42	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1221699681 CA347927641	42	R>H		No	ClinGen gnomAD
rs188550005 CA1808121	43	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1198478724 CA347927657	44	C>R		No	ClinGen gnomAD
rs1246589793 CA347927707	48	P>T		No	ClinGen gnomAD
rs774553627 CA1808124	53	G>D		No	ClinGen ExAC TOPMed
rs1196641679 CA347927789	55	I>V		No	ClinGen gnomAD
rs1345298159 CA347927825	57	W>C		No	ClinGen TOPMed
CA52887532 rs201100543	58	Y>H		No	ClinGen Ensembl
TCGA novel	60	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1808126 rs202061965	62	S>G		No	ClinGen ExAC TOPMed gnomAD
rs760945361 CA1808128	64	T>I		No	ClinGen ExAC gnomAD
CA1808127 rs760945361	64	T>R		No	ClinGen ExAC gnomAD
CA347927934 rs1378836045	65	P>A		No	ClinGen TOPMed
CA347927939 rs1185879650	65	P>H		No	ClinGen TOPMed
CA52887544 rs905031467	66	V>L		No	ClinGen TOPMed
rs1255796907 CA347928022	71	A>V		No	ClinGen TOPMed
CA1808129 rs138930592	73	R>G		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	75	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1198971096 CA347928076	75	H>R		No	ClinGen TOPMed
CA52887552 rs867513855	75	H>Y		No	ClinGen Ensembl
CA1808130 rs373700866	77	H>D		No	ClinGen ESP ExAC gnomAD
TCGA novel	78	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	78	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1808131 rs200321568	79	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs778577313 CA1808132	80	K>Q		No	ClinGen ExAC gnomAD
rs748718957 CA1808133	82	W>L		No	ClinGen ExAC TOPMed gnomAD
rs1360449099 CA347928150	83	F>C		No	ClinGen gnomAD
rs758142695 CA1808134	84	V>G		No	ClinGen ExAC gnomAD
CA52887581 rs201278803	85	P>L		No	ClinGen Ensembl
rs1452888518 CA347928168	86	A>V		No	ClinGen TOPMed gnomAD
TCGA novel	87	K>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1001921691 CA347928176	87	K>N		No	ClinGen TOPMed gnomAD
TCGA novel	92	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1245300387 CA347928237	93	H>R		No	ClinGen TOPMed
rs1289873263 CA347928250	94	Y>S		No	ClinGen gnomAD
CA1808136 rs746483365	95	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1219674457 CA347928282	96	C>S		No	ClinGen gnomAD
rs147135912 CA52887615	96	C>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA347928290 rs1488308636	97	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA347928395 rs1578016087	101	S>P		No	ClinGen Ensembl
CA347928412 rs1559501804	102	S>C		No	ClinGen Ensembl
CA1808161 rs756009733	103	Y>*		No	ClinGen ExAC
rs972443761 CA52887752	103	Y>C		No	ClinGen TOPMed gnomAD
CA1808162 rs779209323	103	Y>D		No	ClinGen ExAC TOPMed
rs1381070071 CA347928462	106	R>G		No	ClinGen TOPMed gnomAD
CA1808163 rs201711520	106	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs772475997 CA1808166	109	I>L		No	ClinGen ExAC gnomAD
rs199866498 CA52887796	109	I>T		No	ClinGen Ensembl
rs148561869 CA1808168	110	S>N		No	ClinGen ESP gnomAD
CA347928517 rs1326062963	110	S>R		No	ClinGen TOPMed
rs1237777210 CA347928562	112	K>N		No	ClinGen gnomAD
CA1808173 rs773417765	114	V>M		No	ClinGen ExAC gnomAD
rs1346733908 CA347928630	117	E>G		No	ClinGen gnomAD
CA1808177 rs776595730	118	P>L		No	ClinGen ExAC
rs765231179 CA1808180	119	N>T		No	ClinGen ExAC
rs762824619 CA1808182	120	L>F		No	ClinGen ExAC
rs764050005 CA1808183	121	C>F		No	ClinGen ExAC
CA1808186 rs780707516	122	Y>*		No	ClinGen ExAC
rs756878228 CA1808185	122	Y>C		No	ClinGen ExAC
CA1808184 rs751159359	122	Y>N		No	ClinGen ExAC
rs749932995 CA1808191	123	N>D		No	ClinGen ExAC gnomAD
rs749932995 CA1808190	123	N>H		No	ClinGen ExAC gnomAD
CA1808193 rs779372486	123	N>I		No	ClinGen ExAC
CA1808195 rs748714147 CA1808194	123	N>K		No	ClinGen ExAC
rs2228139 CA1808202	124	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs2228139 CA1808201 VAR_019131	124	A>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs747203914 CA1808200	124	A>P		No	ClinGen ExAC gnomAD
CA1808198 rs747203914	124	A>S		No	ClinGen ExAC gnomAD
CA1808197 rs747203914	124	A>T		No	ClinGen ExAC gnomAD
CA1808205 rs76949245	125	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs1379473723 CA347928771	127	I>M		No	ClinGen gnomAD
CA1808208 rs775561176	127	I>V		No	ClinGen ExAC gnomAD
rs201149290 CA52887945	133	P>L		No	ClinGen Ensembl
CA347928864 rs144901478	134	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA1808210 rs144901478	134	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs774040292 CA1808211	135	A>S		No	ClinGen ExAC gnomAD
rs761490353 CA1808212	135	A>V		No	ClinGen ExAC gnomAD
CA347928900 rs1332343922	140	L>F		No	ClinGen gnomAD
rs1282250880 CA347928929	144	Y>C		No	ClinGen gnomAD
rs1220287825 CA347928932	145	M>L		No	ClinGen TOPMed gnomAD
rs750140266 CA1808214	145	M>T		No	ClinGen ExAC gnomAD
rs1220287825 CA347928933	145	M>V		No	ClinGen TOPMed gnomAD
CA1808215 rs755609767	146	E>K		No	ClinGen ExAC gnomAD
CA1808216 rs765876662	147	F>C		No	ClinGen ExAC gnomAD
CA52888002 rs200592910	148	F>Y		No	ClinGen Ensembl
rs1344628922 CA347929004	154	E>A		No	ClinGen Ensembl
rs376001912 CA1808217	154	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA347929024 rs1198782264	157	K>T		No	ClinGen gnomAD
CA1808218 rs758927375	159	Q>R		No	ClinGen ExAC gnomAD
CA347929046 rs1478913390	160	W>*		No	ClinGen gnomAD
CA52888043 rs979625608	160	W>C		No	ClinGen Ensembl
rs1171882972 CA347929055	161	Y>C		No	ClinGen gnomAD
CA1808247 rs768830599	165	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1245192978 CA347929142	166	P>S		No	ClinGen gnomAD
rs778704046 CA1808248	168	L>F		No	ClinGen ExAC TOPMed gnomAD
rs748184446 CA1808249	168	L>R		No	ClinGen ExAC gnomAD
rs754484406 CA52888607	172	I>M		No	ClinGen Ensembl
rs771704915 CA1808250	172	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs148877966 CA1808252	173	H>P		No	ClinGen ESP ExAC gnomAD
rs189938542 TCGA novel CA1808253	173	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC TOPMed gnomAD NCI-TCGA
rs148877966 CA1808251	173	H>R		No	ClinGen ESP ExAC gnomAD
CA1808254 rs776310656	174	F>I		No	ClinGen ExAC gnomAD
rs1578020066 CA347929254	175	S>N		No	ClinGen Ensembl
CA347929256 rs1444335245	175	S>R		No	ClinGen gnomAD
CA347929273 rs1450284611	177	V>I		No	ClinGen gnomAD
rs764866240 CA1808256	179	D>G		No	ClinGen ExAC gnomAD
rs767728778 CA1808260	183	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
rs756591538 CA1808262	189	K>N		No	ClinGen ExAC gnomAD
TCGA novel	190	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1808263 rs780401697	193	N>D		No	ClinGen ExAC gnomAD
rs1201594972 CA347929537	197	H>R		No	ClinGen gnomAD
TCGA novel	197	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200552735 CA52888690	198	A>V		No	ClinGen Ensembl
rs779056384 CA1808266	201	T>P		No	ClinGen ExAC TOPMed gnomAD
rs34889382 CA1808268	202	Y>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1808269 rs777727636	203	L>M		No	ClinGen ExAC gnomAD
rs770766507 CA1808271	206	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA347929647 rs1256746947	206	Q>R		No	ClinGen gnomAD
CA347929706 rs1440821804	211	R>Q		No	ClinGen gnomAD
CA1808272 rs776257697	211	R>W		No	ClinGen ExAC gnomAD
rs1177313810 CA347929738	214	E>Q		No	ClinGen gnomAD
rs147536577 CA1808296	221	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1173850729 CA347930335	223	P>L		No	ClinGen TOPMed
CA1808297 rs376447148	223	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA347930339 rs1345160793	224	T>I		No	ClinGen gnomAD
rs867765901 CA52890024	225	R>K		No	ClinGen Ensembl
CA347930376 rs1280285850	230	S>N		No	ClinGen gnomAD
CA347930391 rs1375417671	232	A>G		No	ClinGen TOPMed
TCGA novel	237	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1808301 rs752916518	239	D>E		No	ClinGen ExAC gnomAD
CA1808300 rs201931236	239	D>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	240	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347930479 rs1559507263	243	Q>R		No	ClinGen Ensembl
rs1291613349 CA347930494	245	Q>R		No	ClinGen gnomAD
rs765586978 CA1808326	249	N>Y		No	ClinGen ExAC gnomAD
CA52891826 rs201786108	252	G>S		No	ClinGen gnomAD
CA52891847 rs75108697	253	Q>K		No	ClinGen Ensembl
rs1384462006 CA347930554	254	L>S		No	ClinGen gnomAD
rs1359796316 CA347930561	255	S>N		No	ClinGen TOPMed
rs751672205 CA1808330	257	I>V		No	ClinGen ExAC gnomAD
rs1386014879 CA347930617	262	W>*		No	ClinGen gnomAD
rs1316448384 CA347930640	266	V>I		No	ClinGen gnomAD
CA1808333 rs750386152	269	E>D		No	ClinGen ExAC gnomAD
CA1808335 rs779721723	270	D>E		No	ClinGen ExAC gnomAD
rs755937645 CA1808334	270	D>G		No	ClinGen ExAC gnomAD
rs753475335 CA1808336	271	D>E		No	ClinGen ExAC TOPMed gnomAD
CA52891857 rs145911724	271	D>N		No	ClinGen Ensembl
TCGA novel	272	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347930700 rs1204207247	275	G>E		No	ClinGen gnomAD
CA1808338 rs201324370	280	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA1808364 rs149076223	281	V>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs932666298 CA52892263	281	V>M		No	ClinGen Ensembl
CA52892266 rs200335414	283	N>Y		No	ClinGen Ensembl
CA1808366 rs142722712	287	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA347930910 rs1321174651	288	R>I		No	ClinGen gnomAD
rs763186299	289	R>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1229328082 CA347930923	290	S>N		No	ClinGen gnomAD
rs1394277873 CA347930936	292	L>F		No	ClinGen TOPMed
CA1808368 rs201962166	296	L>V		No	ClinGen ExAC gnomAD
CA347930965 rs1364011267	297	N>D		No	ClinGen TOPMed
CA1808369 rs762031233	299	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1364122782 CA347930981	299	S>P		No	ClinGen gnomAD
CA1808370 rs267598802	300	E>K		No	ClinGen ExAC gnomAD
CA347930997 rs773189773	301	I>M		No	ClinGen ExAC gnomAD
CA1808372 rs760623507	307	K>E		No	ClinGen ExAC gnomAD
rs766202485 CA1808373	307	K>N		No	ClinGen ExAC gnomAD
rs1194330719 CA347931069	311	T>I		No	ClinGen gnomAD
rs1194330719 CA347931068	311	T>N		No	ClinGen gnomAD
rs753881851 CA1808374	312	C>R		No	ClinGen ExAC gnomAD
CA347931096 rs1165978881	315	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1429810682 CA347931113	317	T>I		No	ClinGen TOPMed
rs1429810682 CA347931112	317	T>R		No	ClinGen TOPMed
CA347931120 rs1248531987	318	H>Q		No	ClinGen gnomAD
rs1302156358 CA347931132	320	I>T		No	ClinGen gnomAD
CA1808375 rs201495812	320	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	322	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347931168 rs1383752149	325	I>M		No	ClinGen gnomAD
CA1808378 rs199614768	326	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1225178349 CA347931198	330	P>T		No	ClinGen gnomAD
rs1253638471 CA347931222	332	T>A		No	ClinGen TOPMed
CA1808399 rs775454898	332	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1385601620 CA347931239	334	F>C		No	ClinGen gnomAD
CA347931271 rs1488422098	338	M>I		No	ClinGen TOPMed
rs201805817 CA52893281	338	M>V		No	ClinGen Ensembl
rs1245400918 CA347931274	339	I>F		No	ClinGen gnomAD
rs1310627451 CA347931277	339	I>T		No	ClinGen gnomAD
rs1245400918 CA347931276	339	I>V		No	ClinGen gnomAD
CA347931284 rs148175475	340	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs148175475 CA1808400	340	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA1808401 rs200031827	341	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1286504086 CA347931299	342	C>W		No	ClinGen TOPMed
CA1808403 VAR_029189 rs28362304	344	T>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs767020146 CA1808404	345	L>S		No	ClinGen ExAC TOPMed gnomAD
rs1461234796 CA347931325	347	V>F		No	ClinGen TOPMed gnomAD
rs1461234796 CA347931323	347	V>I		No	ClinGen TOPMed gnomAD
CA52893307 rs200109386	348	I>V		No	ClinGen gnomAD
CA52893315 rs201085481	349	I>M		No	ClinGen ExAC TOPMed gnomAD
CA347931335 rs1411021604	349	I>V		No	ClinGen gnomAD
rs755505492 CA1808406	350	V>M		No	ClinGen ExAC gnomAD
rs368432710 CA1808407	351	C>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs748432829 CA1808408	353	V>F		No	ClinGen ExAC gnomAD
CA347931376 rs1338431832	355	I>T		No	ClinGen gnomAD
rs758852011 CA1808409	360	K>R		No	ClinGen ExAC TOPMed gnomAD
CA1808410 rs777850951	361	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1578046048 CA347931446	365	L>F		No	ClinGen Ensembl
rs886664188 CA52893338	366	W>*		No	ClinGen TOPMed gnomAD
CA1808413 rs776872699	367	Y>C		No	ClinGen ExAC gnomAD
CA1808414 rs745760503	370	S>Y		No	ClinGen ExAC gnomAD
rs769820748 CA1808415	373	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs775616233 CA1808416	376	P>L		No	ClinGen ExAC
CA1808417 rs35381810	377	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA347931529 rs1235036141	377	I>T		No	ClinGen gnomAD
rs35381810 CA52893375	377	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA347931533 rs1262056363	378	K>E		No	ClinGen TOPMed
CA1808437 rs761337171	381	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1332478557 CA347931573	382	G>E		No	ClinGen TOPMed
CA1808439 rs185117655	384	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1459622179 CA347931605	387	A>T		No	ClinGen gnomAD
CA52893851 rs199550600	393	K>N		No	ClinGen Ensembl
rs751920330 CA1808445	395	V>A		No	ClinGen ExAC TOPMed gnomAD
rs764324876 CA1808444	395	V>L		No	ClinGen ExAC
CA1808446 rs757743834	396	G>R		No	ClinGen ExAC gnomAD
rs781550406 CA1808447	397	E>*		No	ClinGen ExAC gnomAD
CA347931670 rs1475582550	397	E>G		No	ClinGen gnomAD
rs34835752 CA1808448	398	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756199093 CA1808449	400	T>A		No	ClinGen ExAC TOPMed gnomAD
CA347931685 rs756199093	400	T>P		No	ClinGen ExAC TOPMed gnomAD
rs780196383 CA1808450	402	D>G		No	ClinGen ExAC TOPMed
rs1176553786 CA347931706	403	C>Y		No	ClinGen gnomAD
rs768673489 CA1808452	405	I>T		No	ClinGen ExAC gnomAD
CA347931771 rs1403836230	412	P>A		No	ClinGen gnomAD
CA347931783 rs1346611022	413	E>D		No	ClinGen TOPMed
rs1210195294 CA347931777	413	E>Q		No	ClinGen TOPMed
TCGA novel	417	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	424	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347931865 rs1430381011	425	I>V		No	ClinGen gnomAD
CA347931876 rs1319200607	426	Y>F		No	ClinGen gnomAD
TCGA novel	428	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1247581184 CA347931898	429	D>E		No	ClinGen gnomAD
CA347931895 rs1578049307	429	D>G		No	ClinGen Ensembl
rs201196509 CA347931913	431	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA1808456 rs772782596	431	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs772782596 CA1808457	431	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA1808459 rs776232596	432	V>A		No	ClinGen ExAC gnomAD
CA347931914 rs1559510950	432	V>I		No	ClinGen Ensembl
CA347931928 rs1578049408	434	E>G		No	ClinGen Ensembl
TCGA novel	437	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1808496 rs201194059	437	V>I		No	ClinGen ExAC gnomAD
rs1053810501 CA347932059	438	E>D		No	ClinGen TOPMed
CA1808497 rs775164173	438	E>V		No	ClinGen ExAC
rs748627338 CA1808498	443	N>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs142706469 CA1808500	444	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	445	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1224836186 CA347932105	445	K>R		No	ClinGen gnomAD
CA347932132 rs1405372572	449	R>G		No	ClinGen gnomAD
rs1374159066 CA347932154	452	I>N		No	ClinGen TOPMed
rs201040189 CA1808504	455	V>I		No	ClinGen ExAC gnomAD
rs3917320 CA1808506	456	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1808507 rs763067881	456	R>K		No	ClinGen ExAC TOPMed gnomAD
rs751565362 CA1808509	459	S>L		No	ClinGen ExAC gnomAD
rs1476284574 CA347932197	459	S>P		No	ClinGen TOPMed
rs377632988 CA1808511	460	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1484772280 CA347932207	461	F>L		No	ClinGen TOPMed
CA1808514 rs779894345	465	G>D		No	ClinGen ExAC gnomAD
CA52894597 rs200910399	468	S>F		No	ClinGen Ensembl
rs919061780 CA52894602	474	M>V		No	ClinGen Ensembl
CA52894610 rs950676103	475	Y>C		No	ClinGen Ensembl
CA347932326 rs1390085378	478	L>F		No	ClinGen gnomAD
TCGA novel	478	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768341777 CA1808516	479	V>I		No	ClinGen ExAC TOPMed gnomAD
rs148364799 CA1808518	481	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs148364799 CA52894655	481	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs200215516 CA1808517	481	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA347932358 rs1559511809	483	I>T		No	ClinGen Ensembl
CA347932361 rs943347299	484	K>E		No	ClinGen TOPMed gnomAD
CA52894660 rs943347299	484	K>Q		No	ClinGen TOPMed gnomAD
CA347932364 rs1177251807	484	K>R		No	ClinGen gnomAD
TCGA novel	489	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347932422 rs1364335395	493	I>V	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	494	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771274291 CA1808519	495	D>G		No	ClinGen ExAC gnomAD
TCGA novel	495	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774550568 CA52894697	496	Y>H		No	ClinGen Ensembl
CA1808523 rs547923880	498	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs202119907 CA1808524	498	K>N		No	ClinGen ExAC gnomAD
rs1578052566 CA347932494	503	I>F		No	ClinGen Ensembl
CA1808527 rs184416789	507	K>M		No	ClinGen 1000Genomes ExAC gnomAD
rs767305469 CA1808528	507	K>N		No	ClinGen ExAC gnomAD
rs751457587 CA1808526	507	K>Q		No	ClinGen ExAC gnomAD
rs184416789 CA52894737	507	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs35739365 CA1808529	510	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	511	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs921327592 CA52894775	512	A>T		No	ClinGen TOPMed
CA347932561 rs1366350954	513	I>V		No	ClinGen gnomAD
CA1808530 rs201410299	514	R>C		No	ClinGen ExAC TOPMed gnomAD
CA1808531 rs779843024	514	R>H		No	ClinGen ExAC TOPMed gnomAD
CA1808532 rs753616565	515	W>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	521	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1808535 rs747505874	522	G>E		No	ClinGen ExAC gnomAD
rs778584842 CA1808534	522	G>R		No	ClinGen ExAC TOPMed gnomAD
CA52894821 rs199515428	524	Q>P		No	ClinGen TOPMed gnomAD
rs140598103 CA1808536	529	R>K		No	ClinGen ESP ExAC gnomAD
TCGA novel	534	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	535	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1229445969 CA347932720	536	Y>C		No	ClinGen gnomAD
CA347932730 rs1578052883	537	H>Q		No	ClinGen Ensembl
CA1808539 rs535779270	542	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA1808541 rs749524190	543	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1808540 rs371084247	543	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1043250443 CA52894880	545	P>A		No	ClinGen gnomAD
rs1043250443 CA347932775	545	P>S		No	ClinGen gnomAD
rs761995160 CA1808544	547	S>C		No	ClinGen ExAC gnomAD
CA1808543 rs774326480	547	S>P		No	ClinGen ExAC TOPMed gnomAD
rs767336592 CA1808545	548	K>N		No	ClinGen ExAC gnomAD
CA1808546 rs773262424	549	H>P		No	ClinGen ExAC
CA1808547 rs760544462	549	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs766286735 CA1808548	550	Q>H		No	ClinGen ExAC gnomAD
CA347932807 rs1178570465	550	Q>L		No	ClinGen gnomAD
CA347932806 rs1178570465	550	Q>R		No	ClinGen gnomAD
CA1808549 rs147817875	551	L>F		No	ClinGen ESP ExAC TOPMed
CA1808552 rs765018514	552	L>P		No	ClinGen ExAC gnomAD
CA1808551 rs765018514	552	L>Q		No	ClinGen ExAC gnomAD
rs746389545 CA1808555	553	S>P		No	ClinGen ExAC gnomAD
rs1339342315 CA347932831	555	A>S		No	ClinGen TOPMed gnomAD
CA1808557 rs200336827	557	K>*		No	ClinGen 1000Genomes ExAC TOPMed
RCV000883616 rs376163784	559	K>missing		No	ClinVar dbSNP
CA1808561 rs189697285	560	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA347932868 rs1312104684	561	Q>*		No	ClinGen gnomAD
TCGA novel	561	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1208581119 CA347932889	563	E>D		No	ClinGen gnomAD
CA52894923 rs969748434	564	A>D		No	ClinGen TOPMed
rs748166757 CA1808562	565	H>Y		No	ClinGen ExAC gnomAD
rs772263623 CA1808563	566	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	567	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201681036 CA1808565 CA1808566	569	G>R		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with P14778

8 regional properties for P14778

Type	Name	Position	InterPro Accession
domain	Toll/interleukin-1 receptor homology (TIR) domain	383 - 548	IPR000157
domain	Immunoglobulin subtype	28 - 108	IPR003599-1
domain	Immunoglobulin subtype	129 - 215	IPR003599-2
domain	Immunoglobulin subtype	233 - 330	IPR003599-3
domain	Immunoglobulin-like domain	44 - 110	IPR007110-1
domain	Immunoglobulin-like domain	118 - 210	IPR007110-2
domain	Immunoglobulin-like domain	226 - 328	IPR007110-3
domain	IL-1Ra-like, immunoglobulin domain	41 - 107	IPR041416

Functions

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

5 GO annotations of cellular component

Name	Definition
external side of plasma membrane	The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface.
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.
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.

8 GO annotations of molecular function

Name	Definition
interleukin-1 binding	Binding to interleukin-1.
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, type I, activating receptor activity	Combining with interleukin-1 to initiate a change in cell activity via signaling pathways and mediated by adaptor proteins.
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.
platelet-derived growth factor receptor binding	Binding to a platelet-derived growth factor receptor.
protease binding	Binding to a protease or a peptidase.
transmembrane signaling receptor activity	Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction.

10 GO annotations of biological process

Name	Definition
cell surface receptor signaling pathway	The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription.
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.
interleukin-1-mediated signaling pathway	The series of molecular signals initiated by interleukin-1 binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
positive regulation of interferon-gamma production	Any process that activates or increases the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon.
positive regulation of interleukin-1-mediated signaling pathway	Any process that activates or increases the frequency, rate or extent of interleukin-1-mediated signaling pathway.
positive regulation of neutrophil extravasation	Any process that activates or increases the frequency, rate or extent of neutrophil extravasation.
positive regulation of T-helper 1 cell cytokine production	Any process that activates or increases the frequency, rate or extent of T-helper 1 cell cytokine production.
regulation of inflammatory response	Any process that modulates the frequency, rate or extent of the inflammatory response, the immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents.
response to interleukin-1	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 an interleukin-1 stimulus.

6 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9NPH3	IL1RAP	Interleukin-1 receptor accessory protein	Homo sapiens (Human)	PR
P27930	IL1R2	Interleukin-1 receptor type 2	Homo sapiens (Human)	PR
Q9Z2B1	Il18rap	Interleukin-18 receptor accessory protein	Mus musculus (Mouse)	PR
P13504	Il1r1	Interleukin-1 receptor type 1	Mus musculus (Mouse)	PR
P14719	Il1rl1	Interleukin-1 receptor-like 1	Mus musculus (Mouse)	PR
Q02955	Il1r1	Interleukin-1 receptor type 1	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MKVLLRLICF	IALLISSLEA	DKCKEREEKI	ILVSSANEID	VRPCPLNPNE	HKGTITWYKD
70	80	90	100	110	120
DSKTPVSTEQ	ASRIHQHKEK	LWFVPAKVED	SGHYYCVVRN	SSYCLRIKIS	AKFVENEPNL
130	140	150	160	170	180
CYNAQAIFKQ	KLPVAGDGGL	VCPYMEFFKN	ENNELPKLQW	YKDCKPLLLD	NIHFSGVKDR
190	200	210	220	230	240
LIVMNVAEKH	RGNYTCHASY	TYLGKQYPIT	RVIEFITLEE	NKPTRPVIVS	PANETMEVDL
250	260	270	280	290	300
GSQIQLICNV	TGQLSDIAYW	KWNGSVIDED	DPVLGEDYYS	VENPANKRRS	TLITVLNISE
310	320	330	340	350	360
IESRFYKHPF	TCFAKNTHGI	DAAYIQLIYP	VTNFQKHMIG	ICVTLTVIIV	CSVFIYKIFK
370	380	390	400	410	420
IDIVLWYRDS	CYDFLPIKAS	DGKTYDAYIL	YPKTVGEGST	SDCDIFVFKV	LPEVLEKQCG
430	440	450	460	470	480
YKLFIYGRDD	YVGEDIVEVI	NENVKKSRRL	IIILVRETSG	FSWLGGSSEE	QIAMYNALVQ
490	500	510	520	530	540
DGIKVVLLEL	EKIQDYEKMP	ESIKFIKQKH	GAIRWSGDFT	QGPQSAKTRF	WKNVRYHMPV
550	560
QRRSPSSKHQ	LLSPATKEKL	QREAHVPLG