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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
Corresponding disease
OVGRH overgrowth syndrome with ribbon-like heterotopia
Location 14q32.2      Physical location : 100.259.744 - 100.408.393
Synonym name
  • CNG-modulin
    • Synonym symbol(s) EMAPL, EMAP, ELP79, FLJ45033, HuEMAP
    DNA
    TYPE functioning gene
    STRUCTURE 204.34 kb     23 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    regionally located in the Usher 1A region
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    23 - 4517 - 834 - 2019 31710781
    22 - 4460 - 815 - 2019 31710781
    22 - 4468 - 802 - 2019 31710781
    22 - 4328 - 771 - 2019 31710781
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   lowly
    Endocrineparathyroid   highly
    Nervousnervecranial nerve  highly
    Respiratorylung   lowly
    Urinarykidney   lowly
    Visualeye   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text brain, kidney, lung
    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