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Symbol ACTN1 contributors: mct/npt - updated : 27-04-2017
HGNC name actinin, alpha 1
HGNC id 163
Corresponding disease
MTCP2 macrothrombocytopenia 2
Location 14q24.1      Physical location : 69.340.840 - 69.446.083
Synonym name
  • non-muscle alpha-actinin-1
  • alpha-actinin cytoskeletal isoform
  • actinin 1 smooth muscle
  • F-actin cross-linking protein
  • Synonym symbol(s) FLJ40884, FLJ54432
    DNA
    TYPE functioning gene
    STRUCTURE 105.24 kb     22 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    21 - 3743 103 892 - Youssoufian (1990)
    22 - 3809 105 914 - Youssoufian (1990)
    21 - 3728 102 887 - Youssoufian (1990)
    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)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS