Entrez Summary: This gene encodes a protein which may be involved in bone development. Mutations in this gene are associated with susceptibility to osteoporosis. [provided by RefSeq, Nov 2009].
UniProt Summary: Isoform 1: Suppresses SRC activation by recognizing and binding to active SRC and facilitating PTPN13-mediated dephosphorylation of SRC 'Tyr-419' leading to its inactivation. Inactivated SRC dissociates from this protein allowing the initiation of a new SRC inactivation cycle (PubMed:19307596). Involved in reorganization of the actin cytoskeleton (PubMed:21636573). In nonmuscle cells, binds to ACTN1 (alpha- actinin-1), increases the affinity of ACTN1 to F-actin (filamentous actin), and promotes formation of actin stress fibers. Involved in regulation of the synaptic AMPA receptor transport in dendritic spines of hippocampal pyramidal neurons directing the receptors toward an insertion at the postsynaptic membrane. Links endosomal surface-internalized GRIA1-containing AMPA receptors to the alpha-actinin/actin cytoskeleton. Increases AMPA receptor-mediated excitatory postsynaptic currents in neurons (By similarity). {ECO:0000250|UniProtKB:P36202, ECO:0000269|PubMed:19307596, ECO:0000269|PubMed:21636573}.
Pfam DomainsGO Terms
Pfam Domains
PDZ
LIM
GO Terms
recycling endosome lumen
early endosome lumen
excitatory chemical synaptic transmission
alpha-actinin binding
muscle alpha-actinin binding
filamentous actin
actin cytoskeleton reorganization
stress fiber
recycling endosome membrane
protein phosphatase binding
cell-cell adherens junction
Z disc
dendritic spine
early endosome membrane
lamellipodium
postsynaptic membrane
actin binding
cytoskeleton
chemical synaptic transmission
anterograde trans-synaptic signaling
trans-synaptic signaling
synaptic signaling
muscle structure development
actin cytoskeleton organization
heart development
actin filament-based process
perinuclear region of cytoplasm
circulatory system development
protein homodimerization activity
cytoskeleton organization
cell-cell signaling
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)