• Gene id: 3554

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 cyt
• OMIM: 147810

Protein Summary

• Protein general information: P14778  
  • Name: Interleukin 1 receptor type 1 (IL 1R 1) (IL 1RT 1) (IL 1RT1) (EC 3.2.2.6) (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 typ
  • Length: 569  
  • Mass: 65402
  • Tissue specificity: Expressed in T-helper cell subsets. Preferentially expressed in T-helper 1 (Th1) cells. {ECO
• Sequence:

  MKVLLRLICFIALLISSLEADKCKEREEKIILVSSANEIDVRPCPLNPNEHKGTITWYKDDSKTPVSTEQASRIH
  QHKEKLWFVPAKVEDSGHYYCVVRNSSYCLRIKISAKFVENEPNLCYNAQAIFKQKLPVAGDGGLVCPYMEFFKN
  ENNELPKLQWYKDCKPLLLDNIHFSGVKDRLIVMNVAEKHRGNYTCHASYTYLGKQYPITRVIEFITLEENKPTR
  PVIVSPANETMEVDLGSQIQLICNVTGQLSDIAYWKWNGSVIDEDDPVLGEDYYSVENPANKRRSTLITVLNISE
  IESRFYKHPFTCFAKNTHGIDAAYIQLIYPVTNFQKHMIGICVTLTVIIVCSVFIYKIFKIDIVLWYRDSCYDFL
  PIKASDGKTYDAYILYPKTVGEGSTSDCDIFVFKVLPEVLEKQCGYKLFIYGRDDYVGEDIVEVINENVKKSRRL
  IIILVRETSGFSWLGGSSEEQIAMYNALVQDGIKVVLLELEKIQDYEKMPESIKFIKQKHGAIRWSGDFTQGPQS
  AKTRFWKNVRYHMPVQRRSPSSKHQLLSPATKEKLQREAHVPLG

• Structural information:
  • Protein Domains: (23..11-)
    1 (/note="Ig-like-C2-type)
    (118..21-)
    2 (/note="Ig-like-C2-type)
    (226..32-)
    3 (/note="Ig-like-C2-type)
    (383..53-)
    (/note="TIR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00204"-)
  • Interpro: IPR007110  IPR036179  IPR013783  IPR041416  IPR003599   IPR015621  IPR004076  IPR004074  IPR000157  IPR035897  
  • Prosite: PS50835 PS50104
  • PDB: 1G0Y 1IRA 1ITB 4DEP 4GAF
  • PDBsum: 1G0Y 1IRA 1ITB 4DEP 4GAF
  • DIP: 93
  • STRING: ENSP00000386380
• Other Databases: GeneCards:  IL1R1  Malacards:  IL1R1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0004908	interleukin-1 receptor activity	IBA	molecular function
GO:0070498	interleukin-1-mediated signaling pathway	IBA	biological process
GO:0019966	interleukin-1 binding	IBA	molecular function
GO:0050727	regulation of inflammatory response	IBA	biological process
GO:2000556	positive regulation of T-helper 1 cell cytokine production	IDA	biological process
GO:0032729	positive regulation of interferon-gamma production	IDA	biological process
GO:0004909	interleukin-1, type I, activating receptor activity	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0004908	interleukin-1 receptor activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006954	inflammatory response	IEA	biological process
GO:0004909	interleukin-1, type I, activating receptor activity	TAS	molecular function
GO:0004888	transmembrane signaling receptor activity	TAS	molecular function
GO:0004908	interleukin-1 receptor activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006955	immune response	TAS	biological process
GO:0007166	cell surface receptor signaling pathway	TAS	biological process
GO:0050135	NAD(P)+ nucleosidase activity	IEA	molecular function
GO:0061809	NAD+ nucleotidase, cyclic ADP-ribose generating	IEA	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:0005886	plasma membrane	TAS	cellular component
GO:0070498	interleukin-1-mediated signaling pathway	TAS	biological process
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2000391	positive regulation of neutrophil extravasation	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0004908	interleukin-1 receptor activity	IEA	molecular function
GO:0002020	protease binding	IEA	molecular function
GO:2000661	positive regulation of interleukin-1-mediated signaling pathway	IEA	biological process
GO:0050727	regulation of inflammatory response	IEA	biological process
GO:0019966	interleukin-1 binding	IEA	molecular function
GO:0019221	cytokine-mediated signaling pathway	IEA	biological process
GO:0005161	platelet-derived growth factor receptor binding	IPI	molecular function
GO:0004908	interleukin-1 receptor activity	IDA	molecular function
GO:0070555	response to interleukin-1	IDA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0070498	interleukin-1-mediated signaling pathway	IDA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04010	MAPK signaling pathway
hsa04060	Cytokine-cytokine receptor interaction
hsa05131	Shigellosis
hsa05166	Human T-cell leukemia virus 1 infection
hsa05163	Human cytomegalovirus infection
hsa05130	Pathogenic Escherichia coli infection
hsa04380	Osteoclast differentiation
hsa05418	Fluid shear stress and atherosclerosis
hsa04064	NF-kappa B signaling pathway
hsa04750	Inflammatory mediator regulation of TRP channels
hsa04659	Th17 cell differentiation
hsa05146	Amoebiasis
hsa04640	Hematopoietic cell lineage

Diseases

Associated diseases	References
Endometriosis	INFBASE: 17244752
Female infertility	INFBASE: 16911713
Systemic sclerosis	KEGG:H01492
Systemic sclerosis	KEGG:H01492
Cholesteatoma of middle ear	PMID:8737779
systemic scleroderma	PMID:1375465
type 1 diabetes mellitus	PMID:8911996
type 1 diabetes mellitus	PMID:11197691
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray