Endometriosis Knowledgebase

Search Result

Gene id

3554

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

IL1R1 Gene UCSC Ensembl

Aliases

CD121A, D2S1473, IL-1R-alpha, IL1R, IL1RA, P80

Gene name

interleukin 1 receptor type 1

Alternate names

interleukin-1 receptor type 1, CD121 antigen-like family member A, IL-1R-1, IL-1RT-1, IL-1RT1, interleukin 1 receptor alpha, type I, interleukin-1 receptor alpha, interleukin-1 receptor type I,

Gene location

2q11.2-q12.1 (102069637: 102179873) Exons: 21 NC_000002.12

Gene summary(Entrez)

This gene encodes a cytokine receptor that belongs to the interleukin-1 receptor family. The encoded protein is a receptor for interleukin-1 alpha, interleukin-1 beta, and interleukin-1 receptor antagonist. It is an important mediator involved in many cytokine-induced immune and inflammatory responses. This gene is located in a cluster of related cytokine receptor genes on chromosome 2q12. [provided by RefSeq, Dec 2013]

OMIM

147810

SNPs

rs2041748

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000664.2   g.102139835A>G
NC_000002.11   g.102756295A>G
NC_000002.12   g.102139835A>G
NM_001288706.1   c.-83-14106A>G
NM_001320978.1   c.-83-14106A>G
NM_001320980.1   c.-83-14106A>G
NM_001320981.1   c.-2167A>G
NM_001320986.1   c.-83-14106A>G

Protein Summary

Protein general information

P14778

Name: Interleukin 1 receptor type 1 (IL 1R 1) (IL 1RT 1) (IL 1RT1) (CD121 antigen like family member A) (Interleukin 1 receptor alpha) (IL 1R alpha) (Interleukin 1 receptor type I) (p80) (CD antigen CD121a) [Cleaved into: Interleukin 1 receptor type 1, membrane

Length: 569 Mass: 65,402

Sequence

MKVLLRLICFIALLISSLEADKCKEREEKIILVSSANEIDVRPCPLNPNEHKGTITWYKDDSKTPVSTEQASRIH
QHKEKLWFVPAKVEDSGHYYCVVRNSSYCLRIKISAKFVENEPNLCYNAQAIFKQKLPVAGDGGLVCPYMEFFKN
ENNELPKLQWYKDCKPLLLDNIHFSGVKDRLIVMNVAEKHRGNYTCHASYTYLGKQYPITRVIEFITLEENKPTR
PVIVSPANETMEVDLGSQIQLICNVTGQLSDIAYWKWNGSVIDEDDPVLGEDYYSVENPANKRRSTLITVLNISE
IESRFYKHPFTCFAKNTHGIDAAYIQLIYPVTNFQKHMIGICVTLTVIIVCSVFIYKIFKIDIVLWYRDSCYDFL
PIKASDGKTYDAYILYPKTVGEGSTSDCDIFVFKVLPEVLEKQCGYKLFIYGRDDYVGEDIVEVINENVKKSRRL
IIILVRETSGFSWLGGSSEEQIAMYNALVQDGIKVVLLELEKIQDYEKMPESIKFIKQKHGAIRWSGDFTQGPQS
AKTRFWKNVRYHMPVQRRSPSSKHQLLSPATKEKLQREAHVPLG

Structural information

Protein Domains	Ig-like (23-110) Ig-like (118-210) Ig-like (226-328) TIR. (383-541)
Interpro:	IPR007110 IPR013783 IPR013098 IPR003599 IPR015621 IPR004076 IPR004074 IPR000157
Prosite:	PS50835 PS50104
Pfam:	PF07679 PF13895 PF01582
PDB:	1G0Y 1IRA 1ITB 4DEP 4GAF
PDBsum:	1G0Y 1IRA 1ITB 4DEP 4GAF
DIP:	93
MINT:	262640
STRING:	ENSP00000233946;

Other Databases

GeneCards: IL1R1; Malacards: IL1R1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002020	protease binding	IEA	molecular_function
GO:0004871	signal transducer activit y	TAS	molecular_function
GO:0004871	signal transducer activit y	TAS	molecular_function
GO:0004888	transmembrane signaling r eceptor activity	TAS	molecular_function
GO:0004908	interleukin-1 receptor ac tivity	IDA	molecular_function
GO:0004909	interleukin-1, Type I, ac tivating receptor activit y	IEA	molecular_function
GO:0005161	platelet-derived growth f actor receptor binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005615	extracellular space	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0006955	immune response	TAS	biological_process
GO:0007166	cell surface receptor sig naling pathway	TAS	biological_process
GO:0009314	response to radiation	IEA	biological_process
GO:0009986	cell surface	IEA	cellular_component
GO:0010286	heat acclimation	IEA	biological_process
GO:0014069	postsynaptic density	IEA	cellular_component
GO:0016020	membrane	IDA	cellular_component
GO:0030424	axon	IEA	cellular_component
GO:0030728	ovulation	IEA	biological_process
GO:0035255	ionotropic glutamate rece ptor binding	IEA	molecular_function
GO:0043234	protein complex	IEA	cellular_component
GO:0050727	regulation of inflammator y response	IEA	biological_process
GO:0070498	interleukin-1-mediated si gnaling pathway	IDA	biological_process
GO:0070555	response to interleukin-1	IDA	biological_process
GO:0070849	response to epidermal gro wth factor	IEA	biological_process
GO:0071333	cellular response to gluc ose stimulus	IEA	biological_process
GO:0071559	response to transforming growth factor beta	IEA	biological_process
GO:0071731	response to nitric oxide	IEA	biological_process
GO:0002020	protease binding	IEA	molecular_function
GO:0004871	signal transducer activit y	IEA	molecular_function
GO:0004871	signal transducer activit y	TAS	molecular_function
GO:0004871	signal transducer activit y	TAS	molecular_function
GO:0004888	transmembrane signaling r eceptor activity	TAS	molecular_function
GO:0004908	interleukin-1 receptor ac tivity	IEA	molecular_function
GO:0004908	interleukin-1 receptor ac tivity	IEA	molecular_function
GO:0004908	interleukin-1 receptor ac tivity	TAS	molecular_function
GO:0004908	interleukin-1 receptor ac tivity	IDA	molecular_function
GO:0004909	interleukin-1, Type I, ac tivating receptor activit y	IEA	molecular_function
GO:0004909	interleukin-1, Type I, ac tivating receptor activit y	TAS	molecular_function
GO:0005161	platelet-derived growth f actor receptor binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0006955	immune response	TAS	biological_process
GO:0007165	signal transduction	IEA	biological_process
GO:0007166	cell surface receptor sig naling pathway	TAS	biological_process
GO:0009314	response to radiation	IEA	biological_process
GO:0009986	cell surface	IEA	cellular_component
GO:0010286	heat acclimation	IEA	biological_process
GO:0014069	postsynaptic density	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	IDA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0019221	cytokine-mediated signali ng pathway	IEA	biological_process
GO:0030424	axon	IEA	cellular_component
GO:0030728	ovulation	IEA	biological_process
GO:0035255	ionotropic glutamate rece ptor binding	IEA	molecular_function
GO:0043234	protein complex	IEA	cellular_component
GO:0050727	regulation of inflammator y response	IEA	biological_process
GO:0070498	interleukin-1-mediated si gnaling pathway	IEA	biological_process
GO:0070498	interleukin-1-mediated si gnaling pathway	IDA	biological_process
GO:0070555	response to interleukin-1	IEA	biological_process
GO:0070555	response to interleukin-1	IDA	biological_process
GO:0070849	response to epidermal gro wth factor	IEA	biological_process
GO:0071333	cellular response to gluc ose stimulus	IEA	biological_process
GO:0071559	response to transforming growth factor beta	IEA	biological_process
GO:0071731	response to nitric oxide	IEA	biological_process
GO:0004871	signal transducer activit y	TAS	molecular_function
GO:0004871	signal transducer activit y	TAS	molecular_function
GO:0004888	transmembrane signaling r eceptor activity	TAS	molecular_function
GO:0004908	interleukin-1 receptor ac tivity	TAS	molecular_function
GO:0004908	interleukin-1 receptor ac tivity	IDA	molecular_function
GO:0004909	interleukin-1, Type I, ac tivating receptor activit y	TAS	molecular_function
GO:0005161	platelet-derived growth f actor receptor binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0006955	immune response	TAS	biological_process
GO:0007166	cell surface receptor sig naling pathway	TAS	biological_process
GO:0016020	membrane	IDA	cellular_component
GO:0070498	interleukin-1-mediated si gnaling pathway	IDA	biological_process
GO:0070555	response to interleukin-1	IDA	biological_process

KEGG pathways

hsa04060  Cytokine-cytokine receptor interaction
hsa05166  HTLV-I infection
hsa04010  MAPK signaling pathway
hsa05418  Fluid shear stress and atherosclerosis
hsa04659  Th17 cell differentiation
hsa04380  Osteoclast differentiation
hsa04640  Hematopoietic cell lineage
hsa05146  Amoebiasis
hsa04064  NF-kappa B signaling pathway
hsa04750  Inflammatory mediator regulation of TRP channels

Diseases

Associated diseases	References
Alzheimer's disease	PMID: 15653174
Ankylosing spondylitis	PMID: 11752505
Arthritis	PMID: 11981324
Asthma	PMID: 18763028
Cancer	PMID: 19773451
Cardiovascular disease	PMID: 11887471
Crohn's disease	PMID: 11742191
Cystic fibrosis	PMID: 19431193
Diabetes	PMID: 15361128
Endometriosis	PMID: 17324958
Endometriosis	PMID: 16046047
Graves ophthalmopathy	PMID: 19702713
Inflammatory bowel disease	PMID: 11220627
Irritable bowel syndrome	PMID: 19844779
Juvenile arthritis	PMID: 15170937
Metabolism disorders	PMID: 14557872
Nephropathy	PMID: 11849463
Osteoarthritis	PMID: 11083263
Osteolysis	PMID: 19860911
Pemphigus	PMID: 19470040
Periodontitis	PMID: 12212456
Polycystic ovary syndrome (PCOS)	PMID: 23900753
Female infertility	INFBASE16046047
Endometriosis	INFBASE16046047
Schizophrenia	PMID: 14563376
Sjogren's syndrome	PMID: 12412204
Systemic scleroderma	PMID: 18576303
Systemic sclerosis	KEGG: H01492
Thryoiditis	PMID: 11506478
Ulcerative colitis	PMID: 12133437
Unexplained infertility	PMID: 11163820

PubMed references

PMID	Condition	Mutation	Population details	Associated_genes	Abstract
16046047	Endometrio sis		58 (43 with end ometriosis, 15 without endomet riosis )	IL-1alpha IL-1 sRII and IL-1 Ra	Show abstract
17517439	Endometrio sis			IL1R1 IL1R2	Show abstract
17324958	Endometrio sis			IL1R1 IL1R2	Show abstract
17244752	Endometrio sis			IL-1RI	Show abstract
16911713	Endometrio sis	IL-1RI (PstI, due to a C-->T transition in exon 1B and BsrBI a C-->A transition at position 52 in exon 1C)	223 (109 women with surgically and histologic ally confirmed endometriosis, 114 healthy wom en)	IL-1RI	Show abstract