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FLASH GENE
Symbol MAP6 contributors: mct - updated : 28-01-2015
HGNC name microtubule-associated protein 6
HGNC id 6868
Location 11q13.5      Physical location : 75.297.963 - 75.379.479
Synonym name
  • stable tubule-only polypeptide
  • candidate gene for retinal disease 5
    • Synonym symbol(s) STOP, MTAP6, FLJ41346, KIAA1878, CGRD5, HS-239444, MAP6-N, MAPO6D1, MAP6N N-STOP, SL21
    DNA
    TYPE functioning gene
    STRUCTURE 81.52 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 2666 - 813 - Letournel (2003)
  • isoform 1 or N-Stop (neuronal-Stop)
    • 3 - 4338 - 439 . up-regulated in the prefrontal cortex of patients with schizophrenia (Shimizu 2006) Letournel (2003)
  • isoform 2 or E-Stop (Early-Stop)
    		•
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain    
    Reproductivefemale systemuterus   
     male systemprostate   
     male systemtestis   
    Respiratorylung    
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervousperipherous   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • five tandem repeats of 46 amino acids
  • a putative SH3-binding motif near its N terminus
  • calmodulin binding motif
    • HOMOLOGY
    Homologene
    FAMILY
  • STOP family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    text
  • the distribution is uniform between the cytoplasm and neurites of neurons
  • colocalizes with neurofilament-rich inclusions in spinal chrod and brain neurons of patients with amyotrophic lateral sclerosis (Letournel 2003)
    • basic FUNCTION
  • acting on the stability and dynamics of microtubules
  • playing an important role for synaptic plasticity
  • microtubule-associated protein stabilizing microtubules in a calmodulin (CaM)-dependent manner
  • is significantly enriched for known tumor suppressors and likely contains many novel tumor suppressors
  • MAP6, MAP6D1 having multimerization activity, which may be relevant to neuronal differentiation and synaptic functions
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • bound to microtubules and calmodulin for calmodulin regulation of microtubule dynamics or stability, specifically during mitosis where CaM and MAP6 colocalize
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Map6 deletion in mice severely alters integrated brain functions and is associated with synaptic defects, suggesting that MAP6s may also have alternative cellular roles