PPFIA1
Description
The PPFIA1 (PTPRF interacting protein alpha 1) is a protein-coding gene located on chromosome 11.
Liprin-alpha-1 is a protein encoded by the PPFIA1 gene in humans. It belongs to the LAR protein tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of the LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. PPFIA1 binds to the intracellular membrane-distal phosphatase domain of tyrosine phosphatase LAR, leading to the localization of LAR to cell focal adhesions. This interaction might regulate the disassembly of focal adhesions, thereby influencing cell-matrix interactions. Alternative splicing of the PPFIA1 gene results in distinct isoforms.
PPFIA1 may play a role in regulating the disassembly of focal adhesions and localizing receptor-like tyrosine phosphatases type 2A to specific sites on the plasma membrane, possibly influencing their interactions with the extracellular environment and substrate binding.
PPFIA1 is also known as LIP.1, LIP1, LIPRIN.
Associated Diseases
- thyroid gland adenocarcinoma
- Griscelli syndrome type 3
- uncombable hair syndrome
- oculocutaneous albinism type 3
- microcephaly-albinism-digital anomalies syndrome
