Aliases for PHACTR1 Gene
External Ids for PHACTR1 Gene
Previous HGNC Symbols for PHACTR1 Gene
Previous GeneCards Identifiers for PHACTR1 Gene
The protein encoded by this gene is a member of the phosphatase and actin regulator family of proteins. This family member can bind actin and regulate the reorganization of the actin cytoskeleton. It plays a role in tubule formation and in endothelial cell survival. Polymorphisms in this gene are associated with susceptibility to myocardial infarction, coronary artery disease and cervical artery dissection. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]
GeneCards Summary for PHACTR1 Gene
PHACTR1 (Phosphatase And Actin Regulator 1) is a Protein Coding gene. Diseases associated with PHACTR1 include Deafness, Autosomal Dominant 31 and Deafness, Autosomal Dominant 21. GO annotations related to this gene include actin binding and protein phosphatase 1 binding. An important paralog of this gene is PHACTR3.
UniProtKB/Swiss-Prot for PHACTR1 Gene
Binds actin monomers (G actin) and plays a role in the reorganization of the actin cytoskeleton and in formation of actin stress fibers. Plays a role in cell motility. Plays a role in the formation of tubules by endothelial cells. Regulates PPP1CA activity. Required for normal cell survival.