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FLASH GENE
Symbol ACTN1 contributors: mct/npt - updated : 27-04-2017
HGNC name actinin, alpha 1
HGNC id 163
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a pleckstrin homology (PH) domain
    • HOMOLOGY
    Homologene
    FAMILY
  • alpha-actinin family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • actinin, alpha 1, actin filament cross-linking, calcium sensitive, cytoskeletal type
  • with ACTN4 are differentially regulated during the development and progression of astrocytomas because each of these isoforms uniquely contributes to distinct malignant properties of astrocytoma cells (Quick 2010)
  • with ACTN4 make critical and distinct contributions to cytoskeletal organization, rigidity-sensing, and motility of glioma cells (Sen 2009)
  • may play a role in human glomerular disease (Yang 2008)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component FHL1 exists as part of a complex that binds with PDLIM1, GSN and ACTN1
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with ADORA2A (Zezula 2008)
  • interaction of DAPK2 with ACTN1 was localized at the plasma membrane, resulting in massive membrane blebbing and reduced cellular motility, whereas the interaction of DAPK2 with YWHAB was localized to the cytoplasm, with no impact on blebbing, motility, or viability
    • cell & other
    REGULATION
    Other phosphorylated on tyrosine residues after stimulation with EGF (Shao 2010)
    ASSOCIATED DISORDERS
    corresponding disease(s) MTCP2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in astrocytomas compared to normal brains in astrocytomas compared to normal brains (Quick 2010)
    tumoral     --over  
    adversely affected the survival of AML patients
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS