PIK3AP1

Chr 10

phosphoinositide-3-kinase adaptor protein 1

Also known as: BCAP

NCBI Gene: 118788 ENSG00000155629 UniProt: Q6ZUJ8

The PIK3AP1 protein functions as a signaling adapter that links B-cell receptor signaling to the PI3K-Akt pathway and regulates inflammatory responses through Toll-like receptor signaling. Mutations cause autosomal recessive agammaglobulinemia-8 with absent B cells due to early B-cell developmental arrest, typically presenting in infancy with recurrent bacterial infections. This gene is highly constrained against loss-of-function variants, indicating that heterozygous carriers are typically unaffected.

ResearchSummary from RefSeq, UniProt

Predicted to enable phosphatidylinositol 3-kinase regulatory subunit binding activity and signaling receptor binding activity. Predicted to be involved in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; regulation of inflammatory response; and regulation of innate immune response. Predicted to be located in membrane. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.12

LOEUF· LoF intol.

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Mechanism

Some data sources returned errors (1)

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