PIK3AP1
Description
The PIK3AP1 (phosphoinositide-3-kinase adaptor protein 1) is a protein-coding gene located on chromosome 10.
Phosphoinositide 3-kinase adapter protein 1 is an enzyme that in humans is encoded by the PIK3AP1 gene.
PIK3AP1 acts as a signaling adapter crucial for B-cell development. It connects B-cell receptor (BCR) signaling to the PI3K-Akt pathway, complementing the BCR coreceptor CD19. PIK3AP1 facilitates BCR and PI3K activation by providing a docking site for the PI3K subunit PIK3R1. Additionally, PIK3AP1 links Toll-like receptor (TLR) signaling to PI3K activation, preventing excessive inflammatory cytokine production. PIK3AP1 also plays a role in activating PI3K within natural killer cells. It potentially contributes to the survival of mature B-cells through the activation of REL.
PIK3AP1 is also known as BCAP.
Associated Diseases
- cancer
- thyroid gland adenocarcinoma
- ovarian cancer
- endometrial cancer
- West syndrome
- combined immunodeficiency with skin granulomas
- BENTA disease
