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FLASH GENE
Symbol CHN1 contributors: mct - updated : 15-11-2016
HGNC name chimerin (chimaerin) 1
HGNC id 1943
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal SH2 domain
  • a C terminal GAP domain and the phospho ester-binding region
  • one zinc dependent phorbol-ester and DAG binding domain
    • HOMOLOGY
    interspecies homolog to c47d12.4
    Homologene
    FAMILY
    CATEGORY signaling neurotransmitter
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • GTPase-activating proteins that inactivate the GTP-hydrolase Rac1 in a diacylglycerol-dependent manner
  • brain GTPase activating protein for the ras-related p21rac
  • having a regulatory function in actin repolymerization
  • has a critical developmental function in ocular motor axon pathfinding
  • is implicated in axon guidance events downstream of ephrin receptor signaling
  • is a key regulator of cortical neuronal migration and function
  • may act as an intermediate to balance and interpret positive and negative guidance cues in the ocular motor system
  • is potentially a unique integrator of guidance cues in motor neuron pathfinding
  • a correct level of CHN1 signaling is required for key oculomotor axon guidance decisions
  • acts during development to establish normal cognitive ability in adulthood
  • is required for Eph receptor-class-specific spinal motor axon guidance and coordinate activation of antagonistic muscles
  • CHN1 signaling in developmental stages contributes to determination of the morphological features of adult spines and establishment of normal cognitive ability
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with CDK5
  • CHN1 regulates bipolar transition and neuronal migration through modulating the activity of DPYSL2, a microtubule-associated protein
  • is critical in the pathfinding of oculomotor neurons as a downstream component of the SEMA3A/PLXNA repellent signaling pathway
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DURS2 , DEL2Q31
    Susceptibility
    Variant & Polymorphism
    Candidate gene for the downmodulation of Rac1 in T-lymphocytes
    Marker
    Therapy target
    ANIMAL & CELL MODELS