Entrez Summary: This gene encodes a PDZ domain-containing protein. PDZ motifs are modular protein-protein interaction domains consisting of 80-120 amino acid residues. PDZ domain-containing proteins interact with each other in cytoskeletal assembly or with other proteins involved in targeting and clustering of membrane proteins. The protein encoded by this gene interacts with alpha-actinin-2 through its N-terminal PDZ domain and with protein kinase C via its C-terminal LIM domains. The LIM domain is a cysteine-rich motif defined by 50-60 amino acids containing two zinc-binding modules. This protein also interacts with all three members of the myozenin family. Mutations in this gene have been associated with myofibrillar myopathy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been identified; all isoforms have N-terminal PDZ domains while only longer isoforms (1, 2 and 5) have C-terminal LIM domains. [provided by RefSeq, Jan 2010].
UniProt Summary: May function as an adapter in striated muscle to couple protein kinase C-mediated signaling via its LIM domains to the cytoskeleton. {ECO:0000305}.
Pfam DomainsGO Terms
Pfam Domains
LIM
PDZ
GO Terms
pseudopodium
muscle alpha-actinin binding
filamentous actin
sarcomere organization
protein kinase C binding
myofibril assembly
stress fiber
cytoskeletal protein binding
cellular component assembly involved in morphogenesis
cell-cell adherens junction
actomyosin structure organization
Z disc
striated muscle cell development
muscle cell development
striated muscle cell differentiation
muscle cell differentiation
actin binding
cytoskeleton
supramolecular fiber organization
muscle structure development
actin cytoskeleton organization
heart development
actin filament-based process
perinuclear region of cytoplasm
organelle assembly
cellular component morphogenesis
circulatory system development
anatomical structure formation involved in morphogenesis
cytoskeleton organization
cell development
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)