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FLASH GENE
Symbol EML1 contributors: - updated : 03-03-2007
HGNC name echinoderm microtubule associated protein like 1
HGNC id 3330
Location 14q32      Physical location : 100.259.744 - 100.408.393
Synonym symbol(s) EMAPL, EMAP, ELP79, FLJ45033, HuEMAP
DNA
TYPE functioning gene
STRUCTURE 148.00 kb     23 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
LOC388011 14 hypothetical gene supported by AK091668; BC043585; BX647564 FLJ25773 14q32.31 hypothetical protein FLJ25773 RPL3P4 14 ribosomal protein L3 pseudogene 4 BCL11B 14q32.31 B-cell CLL/lymphoma 11B (zinc finger protein) FLJ23027 14q32.32 hypothetical protein FLJ23027 CCNK 14q32 cyclin K C14orf136 14q32 chromosome 14 open reading frame 136 C14orf65 14q32.31 chromosome 14 open reading frame 65 LOC390506 14 similar to RIKEN cDNA E030025D05 gene KIAA1822 14q32 KIAA1822 CYP46A1 14q32.1 cytochrome P450, family 46, subfamily A, polypeptide 1 EML1 14q32 echinoderm microtubule associated protein like 1 LOC341965 14q32.32 similar to voltage-dependent anion channel 3 RPS2P3 14 ribosomal protein S2 pseudogene 3 EVL 14q32.32 Enah/Vasp-like C14orf66 14q32.32 chromosome 14 open reading frame 66 YY1 14q32.31-q32.32 YY1 transcription factor C14orf69 14q32.32 chromosome 14 open reading frame 69 C14orf68 14 chromosome 14 open reading frame 68 WARS 14q32.31 tryptophanyl-tRNA synthetase NDUFB3P4 14q NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 4 LOC388013 14 hypothetical gene supported by BX248767 MGC4645 14q32.32 hypothetical protein MGC4645 KIAA1446 14q32.32 brain-enriched guanylate kinase-associated protein LOC388014 14 LOC388014 DLK1 14q32 delta-like 1 homolog (Drosophila) MEG3 14q32 maternally expressed 3 LOC388015 14 similar to RTl1 LOC388016 14 LOC388016 LOC388017 14 LOC388017 LOC145197 14q32.32 hypothetical LOC145197 DIO3OS 14q32.33 deiodinase, iodothyronine, type III opposite strand DIO3 14q32 deiodinase, iodothyronine, type III LOC122423 14q32.33 similar to hypothetical protein ZC477.8 - Caenorhabditis elegans LOC388018 14 LOC388018 RPL26P4 14q32.34 ribosomal protein L26 pseudogene 3
regionally located in the Usher 1A region
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - 4536 - 834 - Ly
- - 4479 - 815 - Ly
EXPRESSION
Type widely
constitutive of
   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
    basic FUNCTION may modify the assembly dynamics of microtubules, such that microtubules are slightly longer, but more dynamic
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    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)
    Susceptibility
    Variant & Polymorphism
    Candidate gene for USH1A
    Marker
    Therapy target novel therapeutic target of imatinib, in T- ALL
    ANIMAL & CELL MODELS