ACAP1
Chr 17ArfGAP with coiled-coil, ankyrin repeat and PH domains 1
Also known as: CENTB1
ACAP1 encodes a GTPase-activating protein that regulates ARF6 and is required for clathrin-dependent protein transport from recycling endosomes to the trans-Golgi network and cell surface, including regulation of integrin beta-1 export and cell migration. This gene is highly constrained against loss-of-function variation (LOEUF 0.42), but no definitive disease associations have been established in the provided data. The high constraint suggests potential for severe developmental consequences if pathogenic variants were to occur.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
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
ACAP1 · 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