PHACTR1 gene

phosphatase and actin regulator 1

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

Cytogenetic Location: 6p24.1, which is the short (p) arm of chromosome 6 at position 24.1

Molecular Location: base pairs 12,716,635 to 13,290,462 on chromosome 6 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 6p24.1, which is the short (p) arm of chromosome 6 at position 24.1
  • dJ257A7.2
  • RPEL
  • RPEL1