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FLASH GENE
Symbol JAKMIP1 contributors: mct - updated : 22-06-2010
HGNC name janus kinase and microtubule interacting protein 1
HGNC id 26460
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an N-terminal region that targets the protein to microtubule polymer
  • one IQ domain
  • a myosin head-like domain
  • a rodlike tail sequence highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils
    • HOMOLOGY
    Homologene
    FAMILY
  • Janus kinase (Jak) family of non-receptor tyrosine kinases
    • CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,microfilament
    intracellular,nucleus
    text
  • thick filaments of the myofibrils
  • present in the tail and to a lesser degree in the head of the sperm cell
    • basic FUNCTION
  • involved in muscle contraction
  • playing a role in the control of GABA(B) receptor expression and for the efficacy of inhibitory synaptic
  • having a role in cell polarization, segregation of signaling complexes, and vesicle traffic, some of which may involve Jak tyrosine kinases transmission
  • having ability to bind TYK2, a member of the Janus kinase (Jak) family of non-receptor tyrosine kinases
  • involved in the control of survival, progression, and death of neuronal cells, photoreceptors included
  • GABA(B) receptor and Jak tyrosine kinase-binding protein that also associates with RNA and microtubules
  • being a novel effector memory gene restraining T cell-mediated cytotoxicity
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds different RNA species including the 3'-untranslated regions of both the GABBR1 and GABBR2 mRNAs
  • interacting with janus kinases and microtubules
  • associated with two Jak family members, TYK2 and JAK1, in via its C-terminal region
  • interaction with GABBR1 and KLC1 (KLC1 link GABBR1 to the tubulin cytoskeleton in neurons)
  • associated to microtubules and the molecular motor kinesin-I
  • associates with a microtubule fraction and with GABA(B) receptors in testis suggesting that the set of protein interactions of JAKMIP1 are conserved in different tissues
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in autism
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS