Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 3556
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol IL1RAP   Gene   UCSC   Ensembl
Aliases C3orf13, IL-1RAcP, IL1R3
Gene name interleukin 1 receptor accessory protein
Alternate names interleukin-1 receptor accessory protein, IL-1 receptor accessory protein, IL-1R3, interleukin-1 receptor 3, interleukin-1 receptor accessory protein beta,
Gene location 3q28 (190514050: 190657196)     Exons: 16     NC_000003.12
Gene summary(Entrez) Interleukin 1 induces synthesis of acute phase and proinflammatory proteins during infection, tissue damage, or stress, by forming a complex at the cell membrane with an interleukin 1 receptor and an accessory protein. This gene encodes the interleukin 1 receptor accessory protein. The protein is a necessary part of the interleukin 1 receptor complex which initiates signalling events that result in the activation of interleukin 1-responsive genes. Alternative splicing of this gene results in two transcript variants encoding two different isoforms, one membrane-bound and one soluble. The ratio of soluble to membrane-bound forms increases during acute-phase induction or stress. [provided by RefSeq, Nov 2009]
OMIM 602626

Protein Summary

Protein general information Q9NPH3  

Name: Interleukin 1 receptor accessory protein (IL 1 receptor accessory protein) (IL 1RAcP) (Interleukin 1 receptor 3) (IL 1R 3) (IL 1R3)

Length: 570  Mass: 65,418

Tissue specificity: Detected in liver, skin, placenta, thymus and lung. Isoform 4 is predominantly expressed in brain. Overexpresed on candidate chronic myeloid leukemia (CML) stem cells, hematopoietic stem cells and mononuclear cells of patients with acu

Sequence MTLLWCVVSLYFYGILQSDASERCDDWGLDTMRQIQVFEDEPARIKCPLFEHFLKFNYSTAHSAGLTLIWYWTRQ
DRDLEEPINFRLPENRISKEKDVLWFRPTLLNDTGNYTCMLRNTTYCSKVAFPLEVVQKDSCFNSPMKLPVHKLY
IEYGIQRITCPNVDGYFPSSVKPTITWYMGCYKIQNFNNVIPEGMNLSFLIALISNNGNYTCVVTYPENGRTFHL
TRTLTVKVVGSPKNAVPPVIHSPNDHVVYEKEPGEELLIPCTVYFSFLMDSRNEVWWTIDGKKPDDITIDVTINE
SISHSRTEDETRTQILSIKKVTSEDLKRSYVCHARSAKGEVAKAAKVKQKVPAPRYTVELACGFGATVLLVVILI
VVYHVYWLEMVLFYRAHFGTDETILDGKEYDIYVSYARNAEEEEFVLLTLRGVLENEFGYKLCIFDRDSLPGGIV
TDETLSFIQKSRRLLVVLSPNYVLQGTQALLELKAGLENMASRGNINVILVQYKAVKETKVKELKRAKTVLTVIK
WKGEKSKYPQGRFWKQLQVAMPVKKSPRRSSSDEQGLSYSSLKNV
Structural information
Protein Domains
Ig-like (21-128)
Ig-like (141-230)
Ig-like (242-348)
TIR. (403-549)
Interpro:  IPR007110 IPR013783 IPR003599 IPR015621 IPR004074 IPR000157
Prosite:   PS50835 PS50104

Pfam:  
PF01582

PDB:  
3O4O 4DEP
PDBsum:   3O4O 4DEP

DIP:  
33487
MINT:   1184198
Other Databases GeneCards:  IL1RAP;  Malacards:  IL1RAP

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0004871 signal transducer activit
y
TAS molecular_function
GO:0004908 interleukin-1 receptor ac
tivity
IEA molecular_function
GO:0005149 interleukin-1 receptor bi
nding
IEA molecular_function
GO:0005576 extracellular region
IEA cellular_component
GO:0005737 cytoplasm
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:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0006461 protein complex assembly
TAS biological_process
GO:0006954 inflammatory response
IEA biological_process
GO:0006955 immune response
TAS biological_process
GO:0016020 membrane
IDA cellular_component
GO:0019221 cytokine-mediated signali
ng pathway
IEA biological_process
GO:0043234 protein complex
IEA cellular_component
GO:0045087 innate immune response
IEA biological_process
GO:0002376 immune system process
IEA biological_process
GO:0004871 signal transducer activit
y
TAS molecular_function
GO:0004908 interleukin-1 receptor ac
tivity
IEA molecular_function
GO:0005149 interleukin-1 receptor bi
nding
IEA molecular_function
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
IEA cellular_component
GO:0005737 cytoplasm
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:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0006461 protein complex assembly
TAS biological_process
GO:0006954 inflammatory response
IEA biological_process
GO:0006954 inflammatory response
TAS biological_process
GO:0006955 immune response
TAS biological_process
GO:0007165 signal transduction
IEA biological_process
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:0043234 protein complex
IEA cellular_component
GO:0045087 innate immune response
IEA biological_process
GO:0004871 signal transducer activit
y
TAS 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:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0006461 protein complex assembly
TAS biological_process
GO:0006954 inflammatory response
TAS biological_process
GO:0006955 immune response
TAS biological_process
GO:0016020 membrane
IDA cellular_component

KEGG pathways

hsa04060  Cytokine-cytokine receptor interaction
hsa04659  Th17 cell differentiation
hsa04750  Inflammatory mediator regulation of TRP channels

Diseases

Associated diseases References
Cancer PMID: 18385676
Celiac disease PMID: 19240061
Connective tissue diseases PMID: 19527514
Diabetes PMID: 16519819
Endometriosis PMID: 24935223
Endometriosis associated infertility INFBASE21958553
Endometriosis INFBASE21272866

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
21958553 Endometrio
sis


Female infertility sIL1RAcP
sIL1R2
IL1B
Show abstract
21272866 Endometrio
sis

120 (66 women w
ith endometrios
is, 60 healthy
women with no l
aparoscopic evi
dence of endome
triosis)
IL1RAcP
Show abstract
24935223 Endometrio
sis

74 (47 women wi
th endometriosi
s, 27 controls)
Female infertility
Show abstract