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FLASH GENE
Symbol DYNC1H1 contributors: mct - updated : 15-06-2013
HGNC name dynein, cytoplasmic, heavy polypeptide 1
HGNC id 2961
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a conserved globular, ATP binding N terminal head
  • a tail composed of a string of rod-like domains
    • HOMOLOGY
    interspecies homolog to murine Dnch1
    homolog to C.elegans Y51H7c.6A
    homolog to rattus dynein heavy chain
    Homologene
    FAMILY dynein heavy chain/ATPase family
    CATEGORY enzyme , motor/contractile
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    basic FUNCTION
  • retrograde transport motor cytoplasmic involved in axonal transport and in microtubule-based movement
  • playing an unique and important role in the initial events of bipolar spindle formation, while any later roles in mitosis maybe redundant
  • potential role for the dynein tail in motor function, and provide direct evidence for a link between single-motor processivity and disease
    • CELLULAR PROCESS cell cycle, division, mitosis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • cytoplasmic dynein made of two heavy and several light and intermediate chains
    • INTERACTION
    DNA
    RNA
    small molecule
    ATP binding
    protein
  • intermediate and light chains
  • DYNC1H1 interact with NF1 along microtubules in vesicular structures identified to be melanosomes and disruptions in the interaction may contribute to the abnormal pigmentary features commonly associated with NF1 disease
    • cell & other binding to organelles is modulated by dynactin
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRD13 , CMT2O
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects .
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • missense point mutation in murine Dync1h1 that results in late-onset motor neuron loss, also present with a severe, early-onset proprioceptive sensory neuropathy (