LURAP1
Chr 1leucine rich adaptor protein 1
Also known as: C1orf190, LRAP35a, LRP35A
The protein activates the canonical NF-kappa-B pathway to drive pro-inflammatory cytokine production and promotes dendritic cell antigen presentation, while also regulating actomyosin assembly crucial for cell migration through interactions with MYO18A and CDC42BPA/CDC42BPB. Based on current databases, no established human disease associations have been reported for LURAP1 mutations. The gene shows tolerance to loss-of-function variation (pLI 0.01, LOEUF 1.18), suggesting haploinsufficiency is unlikely to cause disease.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
LURAP1 · 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