Aliases for PPFIA1 Gene
External Ids for PPFIA1 Gene
Previous GeneCards Identifiers for PPFIA1 Gene
The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. This protein binds to the intracellular membrane-distal phosphatase domain of tyrosine phosphatase LAR, and appears to localize LAR to cell focal adhesions. This interaction may regulate the disassembly of focal adhesion and thus help orchestrate cell-matrix interactions. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
GeneCards Summary for PPFIA1 Gene
PPFIA1 (PTPRF Interacting Protein Alpha 1) is a Protein Coding gene. Diseases associated with PPFIA1 include Non-Syndromic X-Linked Intellectual Disability. Among its related pathways are Neurotransmitter Release Cycle and Transmission across Chemical Synapses. Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity. An important paralog of this gene is PPFIA2.
UniProtKB/Swiss-Prot Summary for PPFIA1 Gene
May regulate the disassembly of focal adhesions. May localize receptor-like tyrosine phosphatases type 2A at specific sites on the plasma membrane, possibly regulating their interaction with the extracellular environment and their association with substrates.