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FLASH GENE
Symbol MYO1A contributors: mct - updated : 28-08-2013
HGNC name myosin IA
HGNC id 7595
Corresponding disease
DFNA48 neurosensory deafness 48
Location 12q13.3      Physical location : 57.422.301 - 57.443.893
Synonym name
  • brush border myosin-I
  • myosin, heavy polypeptide-like (100kD)
  • Synonym symbol(s) BBMI, MIHC, MYHL, DFNA48
    DNA
    TYPE functioning gene
    STRUCTURE 22.25 kb     28 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    RBMS2 12q12 RNA binding motif, single stranded interacting protein 2 BAZ2A 12q24.3-qter bromodomain adjacent to zinc finger domain, 2A ATP5B 12p13-qter ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide TEBP 12q13.13 unactive progesterone receptor, 23 kD PRIM1 12q13 primase, polypeptide 1, 49kDa NACA 12q23-q24.1 nascent-polypeptide-associated complex alpha polypeptide RODH 12q13 nascent-polypeptide-associated complex alpha polypeptide SDR-O 12q13.13 orphan short-chain dehydrogenase / reductase RODH-4 12q13.13-q13.2 microsomal NAD+-dependent retinol dehydrogenase 4 LOC390332 12 similar to sterol/retinol dehydrogenase ADMR 12q13.3-q14 adrenomedullin receptor KIAA0352 12q13.2-q15 adrenomedullin receptor TAC3 12q13-q21 tachykinin 3 (neuromedin K, neurokinin beta) MYO1A 12q13-q15 myosin IA KIAA0286 12q13.2 KIAA0286 protein NAB2 12q13.3-q14.1 NGFI-A binding protein 2 (EGR1 binding protein 2) STAT6 12q13.3-q14.1 signal transducer and activator of transcription 6, interleukin-4 induced LRP1 12q13.3 low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor) SHMT2 12q13.2 serine hydroxymethyltransferase 2 (mitochondrial) NXPH4 12q13.2 neurexophilin 4 LOC56901 12q13.2 NADH:ubiquinone oxidoreductase MLRQ subunit homolog MGC2793 12q13.2 hypothetical protein MGC2793 KIAA1002 12q13.2 Homo sapiens KIAA1002 protein (KIAA1002), mRNA. LOC338803 12q13.2 similar to RIKEN cDNA 1300003K24 INHBC 12q13.1 inhibin, beta C INHBE 12q13.2 inhibin, beta E GLI 12q13.3-q14.1 glioma-associated oncogene homolog (zinc finger protein) ARHGAP9 12q14 Rho GTPase activating protein 9 MARS 12q13.11-q14.3 methionine-tRNA synthetase DDIT3 12q13.1-q13.2 DNA-damage-inducible transcript 3
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    29 - 3658 - 1043 - 2005 15758024
    28 - 3621 - 1043 - 2005 15758024
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestinejejunum  
     intestinelarge intestinecolon  
     stomach    
    Hearing/Equilibriumearinnercochlea  
    Reproductivefemale systemovary   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsensorystato-auditory  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal motor domain with ATP and actin-binding sites
  • a neck with three IQ calmodulin or calmodulin-like light chain binding domains
  • a tail containing a coiled coil segment
  • a myosin head-like domain
  • a C terminal globular domain, C-terminal tail homology 1 (TH1) domain, mediating the ability to bind to microvillar membrane
  • HOMOLOGY
    interspecies homolog to bovine Myo1a
    Homologene
    FAMILY myosin family
    CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    text brush border
    basic FUNCTION
  • unconventional, apparently non filamentous, involved in directing the movement of organelles along actin filaments
  • critical multifunctional component of the enterocyte, required for maintaining the normal composition and highly ordered structure of the brush border
  • regulates the polarization/differentiation of colorectal cancer cells, is frequently mutated/methylated in colorectal tumors, and has tumor-suppressor activity
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • important regulator of CFTR traffic and anion transport in the BBM (brush border membrane) of villus enterocytes, suggesting that MYO1A may power apical CFTR movement into the BBM from subapical endosomes
  • cell & other
  • targeting to microvilli using multiple membrane binding motifs in the tail homology 1 (TH1) domain
  • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNA48
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       loss of function
    frequently inactivated in colorectal tumors by genetic and epigenetic mechanism
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • MYO1A levels can be used to predict the probability of patient survival in colorectal cancer
  • Therapy target
    ANIMAL & CELL MODELS
  • mice lacking Myo1a demonstrate no overt physiological symptoms, suggesting that other myosins may compensate for the loss of Myo1a in these animals