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FLASH GENE
Symbol DYNC1H1 contributors: mct - updated : 15-06-2011
HGNC name dynein, cytoplasmic, heavy polypeptide 1
HGNC id 2961
Corresponding disease
MRD13 mental retardation, autosomal dominant 13
Location 14q32.31      Physical location : 102.430.864 - 102.517.135
Synonym name
  • retrograde transport motor cytoplasmic dynein (MAP1C)
  • dynein heavy chain, cytosolic
  • dynein, cytoplasmic-like
  • Legs at odd angles
  • Synonym symbol(s) DNCHC1, P22, DHC1, DHC1, DHC1a, DNCH1, DNCL, DNECL, DYHC, Dnchc1, HL-3, KIAA0325, LOA
    DNA
    TYPE functioning gene
    STRUCTURE 86.27 kb     78 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    78 - 14361 - 4646 - 1996 8647893
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   highly
    Reproductivefemale systemuteruscervix highly
     female systembreastmammary gland highly
     male systemtestis   
    Respiratorylung    
     respiratory tracttrachea   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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
    cell & other binding to organelles is modulated by dynactin
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRD13
    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 (