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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
Location 4p16.1      Physical location : 6.027.925 - 6.202.318
Synonym name
  • JAK and microtubule interacting protein 1
  • multiple coiled-coil GABABR1-binding protein
  • multiple alpha-helices and RNA-linker protein 1
  • GABA-B receptor-binding protein
  • Synonym symbol(s) JAMIP1, FLJ31564, MARLIN1, Gababrbp, Marlin-1
    DNA
    TYPE functioning gene
    STRUCTURE 174.39 kb     21 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 2547 - 831 - 2007 17761393
    three coiled-coil region CCR1, CCR2, CCR3
    21 - 3011 - 831 in retina, brain and retinoblastoma cell line 2008 18941173
  • isoform b
  • three coiled-coil region CCR1, CCR2, CCR3
  • created by an internal alternative donor splice site in exon 13, located 71 bp upstream the TAA termination codon
  • 13 - 1743 14 431 brain-specific 2007 17761393
  • lacking exons 11 to 18
  • two coiled-coil region CCR1, CCR2
  • 9 - 2189 - 690 brain-specific 2007 17761393
    lacking exons 7 to 19
    7 - 2420 - 831 brain-specific 2007 17761393
  • lacks 185 amino acids, corresponding to the spliced exons 3 and 8, without a frameshift in the ORF
  • three coiled-coil region, (CCR1, CCR2, CCR3)
  • 12 - 2593 - 626 - 2008 18941173
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node   moderately Homo sapiens
    Nervousbrainlimbic systemhippocampus predominantly Homo sapiens
     nervecranial nerve    Homo sapiens
    Reproductivemale systemtestis  highly Homo sapiens
    Visualeyeretina  highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymphocyte Homo sapiens
    Nervousneuron Homo sapiens
    Reproductivespermatocyte Homo sapiens
    Reproductivespermatogonia Homo sapiens
    Reproductivespermatozoa Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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