PHACTR1

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]

Description

Phosphatase and actin regulator 1

Tissue specificity

Tissue enhanced (bone marrow, brain, lymphoid tissue)

Subcell location

Plasma membrane

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

6 (12716554 - 13287843)

Ensembl ID

ENSG00000112137  (ver. 103.38)

Orthologs

Mouse Phactr1: ENSMUSG00000054728

UniProt

Q9C0D0

neXtProt

NX_Q9C0D0

Human splice variants
Mouse splice variants

Protein structure