PHACTR1
Description
The PHACTR1 (phosphatase and actin regulator 1) is a protein-coding gene located on chromosome 6.
PHACTR1, or Phosphatase and actin regulator 1, is a protein encoded by the PHACTR1 gene located on chromosome 6 in humans. It is most highly expressed in the globus pallidus region of the brain. PHACTR1 functions as a binding protein for both actin and protein phosphatase 1 (PP1), playing a role in regulating the reorganization of the actin cytoskeleton. Genome-wide association studies have linked PHACTR1 to coronary artery disease and migraines. The PHACTR1 gene contains one of 27 SNPs associated with an increased risk of coronary artery disease.
Structure
- Gene: The PHACTR1 gene resides on chromosome 6 at the band 6p24.1 and spans 19 exons. It produces two isoforms through alternative splicing.
- Protein: PHACTR1 is part of the phosphatase and actin regulator family and features 4 RPEL repeats, three of which are located at the C-terminal end and bind to three actin monomers. The region containing these RPEL repeats is where PHACTR1 binds to PP1. PHACTR1 wraps around PP1 in a manner similar to other PP1 cofactors, using a non-canonical RVxF motif, a ϕϕ motif, an Arg motif, and a Trp motif.
PHACTR1 is also known as DEE70, EIEE70, RPEL, RPEL1, dJ257A7.2.
