Aliases for PHACTR4 Gene
External Ids for PHACTR4 Gene
Previous GeneCards Identifiers for PHACTR4 Gene
This gene encodes a member of the phosphatase and actin regulator (PHACTR) family. Other PHACTR family members have been shown to inhibit protein phosphatase 1 (PP1) activity, and the homolog of this gene in the mouse has been shown to interact with actin and PP1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for PHACTR4 Gene
PHACTR4 (Phosphatase And Actin Regulator 4) is a Protein Coding gene. Diseases associated with PHACTR4 include Hirschsprung Disease 1 and Coloboma Of Macula. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is PHACTR2.
UniProtKB/Swiss-Prot Summary for PHACTR4 Gene
Regulator of protein phosphatase 1 (PP1) required for neural tube and optic fissure closure, and enteric neural crest cell (ENCCs) migration during development. Acts as an activator of PP1 by interacting with PPP1CA and preventing phosphorylation of PPP1CA at 'Thr-320'. During neural tube closure, localizes to the ventral neural tube and activates PP1, leading to down-regulate cell proliferation within cranial neural tissue and the neural retina. Also acts as a regulator of migration of enteric neural crest cells (ENCCs) by activating PP1, leading to dephosphorylation and subsequent activation of cofilin (COF1 or COF2) and repression of the integrin signaling through the RHO/ROCK pathway (By similarity).