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FLASH GENE
Symbol EML1 contributors: mct - updated : 08-06-2022
HGNC name echinoderm microtubule associated protein like 1
HGNC id 3330
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a basic N terminal
  • an acidic C terminal composed of a series of 10 imperfect WD repeats
  • a coiled-coil domain
    • HOMOLOGY
    interspecies homolog to C.elegans C24A1.2
    intraspecies homolog to echinoderm microtubule-associated protein (EMAP)
    Homologene
    FAMILY EMAP family of WD repeat proteins
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    intracellular,nuclear envelope,ext
    text
  • binds to the microtubule complex
    • basic FUNCTION
  • may modify the assembly dynamics of microtubules, such that microtubules are slightly longer, but more dynamic
  • ligand sensitivity of cGMP-gated (CNG) ion channels in cone photoreceptors is modulated by EML1, a Ca(2+)-binding protein
  • likely functions early in eye development and is crucial for proper retinal lamination during cellular proliferation and development
  • plays likely an important role in retina development but does not modulate phototransduction in mammalian rods and cones
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) OVGRH
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    in a T-cell acute lymphoblastic leukemia patient with a cryptic t(9;14)(q34;q32) associated with deletion of CDKN2A (p16) and expression of TLX1 (HOX11)
    constitutional       loss of function
    impairs apical progenitor spindle length and soma shape in the developing cerebral cortex
    Susceptibility
    Variant & Polymorphism
    Candidate gene for USH1A
    Marker
  • EML1 rs10151787 A>G and H4C5 rs2069018 T>C are independent prognostic biomarkers for cutaneous melanoma-specific survival (CMSS)
    • Therapy target novel therapeutic target of imatinib, in T- ALL
    ANIMAL & CELL MODELS
  • nonsense mutation in the Eml1 gene in a novel murine model, tvrm360, displaying subcortical heterotopia, hydrocephalus and disorganization of retinal architecture