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GenoLensGenoLens

IL1R1

Chr 2q11.2-q12.1

interleukin 1 receptor type 1

Aliases:
D2S1473, CD121A
MANE:
ENST00000410023.6

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Primary immunodeficiency or monogenic inflammatory bowel disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Familial Meniere Disease

Disease associations (Open Targets)

  • rheumatoid arthritis

    0.59
  • Ascending aortic dissection

    0.45
  • asthma

    0.41
  • inflammatory bowel disease

    0.41
  • COVID-19

    0.40
  • CINCA syndrome

    0.38
  • immune system disorder

    0.37
  • neurodegenerative disease

    0.35
  • gout

    0.34
  • chronic recurrent multifocal osteomyelitis 3

    0.34

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Interleukin-1 receptor type 1

Receptor for IL1A, IL1B and IL1RN (PubMed:2950091, PubMed:37315560). After binding to interleukin-1 associates with the coreceptor IL1RAP to form the high affinity interleukin-1 receptor complex which mediates interleukin-1-dependent activation of NF-kappa-B, MAPK and other pathways. Signaling involves the recruitment of adapter molecules such as TOLLIP, MYD88, and IRAK1 or IRAK2 via the respective TIR domains of the receptor/coreceptor subunits. Binds ligands with comparable affinity and binding of antagonist IL1RN prevents association with IL1RAP to form a signaling complex. Involved in IL1B-mediated costimulation of IFNG production from T-helper 1 (Th1) cells (PubMed:10653850)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.