Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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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 accessionTerm nameEvidence codeGo 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 Ethnicity Population details Infertility_type 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