STAP1
Description
The STAP1 (signal transducing adaptor family member 1) is a protein-coding gene located on chromosome 4.
STAP1, encoded by the STAP1 gene, serves as a docking protein in B cell antigen receptor (BCR) signaling. It operates downstream of Tec tyrosine kinase, and its phosphorylation by Tec enhances Tec activity through a positive feedback loop. STAP1 shares homology with its mouse ortholog, stem cell adaptor protein 1, with 83% sequence identity. It has been shown to interact with C19orf2.
STAP1 is also known as BRDG1, STAP-1.
Associated Diseases
- hypercholesterolemia, familial, 1
- partial chromosome Y deletion
- male infertility with teratozoospermia due to single gene mutation
- spermatogenic failure 3
- spermatogenic failure 26
- spermatogenic failure 31
- spermatogenic failure 23
- spermatogenic failure 52
