IL1RAPL1
Chr XXLRinterleukin 1 receptor accessory protein like 1
Also known as: IL-1-RAPL-1, IL-1RAPL-1, IL1R8, IL1RAPL, IL1RAPL-1, MRX10, MRX21, MRX34
The protein functions as a synaptic organizer that regulates presynaptic differentiation by inhibiting N-type voltage-gated calcium channels and promotes neurite outgrowth and dendritic spine formation through trans-synaptic binding to protein tyrosine phosphatases. Mutations cause X-linked intellectual developmental disorder with inheritance following an X-linked recessive pattern. The gene is highly constrained against loss-of-function variants and shows high expression in postnatal hippocampal memory structures, consistent with its role in learning and memory processes.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
IL1RAPL1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools