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FLASH GENE
Symbol ESPN contributors: mct - updated : 29-08-2015
HGNC name espin
HGNC id 13281
Corresponding disease
DFNA26 neurosensory deafness 26
DFNB36 neurosensory deafness 36
Location 1p36.31      Physical location : 6.484.847 - 6.521.003
Synonym symbol(s) ESPIN, DKFZp434A196, LP2654
DNA
TYPE functioning gene
STRUCTURE 36.17 kb     13 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
LOC126772 1p36.31 similar to erythrocyte membrane-associated giant protein antigen 332 NPHP4 1p36.22 nephronophthisis 4 LOC388590 1 LOC388590 KCNAB2 1p36.3 potassium voltage-gated channel, shaker-related subfamily, beta member 2 CHD5 1p36.23 chromodomain helicase DNA binding protein 5 RPL22 1p36.3-p36.2 ribosomal protein L22 LOC388591 1 hypothetical gene supported by AK128246 FLJ32096 1p36.23 hypothetical protein FLJ32096 ICMT 1p36.21 isoprenylcysteine carboxyl methyltransferase MGC40168 1p36.23 hypothetical protein MGC40168 LOC390992 1 similar to helix-loop-helix transcription factor GPR153  G protein-coupled receptor 153 BACH 1p36.2 G protein-coupled receptor 153 LOC388592 1 similar to Transcription factor HES-2 (Hairy and enhancer of split 2) ESPN 1p36.31-p36.11 espin TNFRSF25 1p36.2 tumor necrosis factor receptor superfamily, member 25 KIAA0720 1p36.23 tumor necrosis factor receptor superfamily, member 25 FLJ23323 1p36.23 hypothetical protein FLJ23323 TAS1R1 1p36.23 taste receptor, type 1, member 1 HKR3 1p36.31 GLI-Kruppel family member HKR3 KIAA0469 1p36.23 KIAA0469 gene product PHF13 1p36.23 PHD finger protein 13 MGC33488 1p36.23 hypothetical protein MGC33488 FLJ10737 1p36.23 hypothetical protein FLJ10737 CAMTA1 1p36.31-p36.23 calmodulin binding transcription activator 1
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
13 - 3531 91.3 854 testis, Sertoli cell-spermatid junctions (ectoplasmic specializations) 2000 10975527
  • variant 1 large isoform
  • major actin bundling protein of the Sertoli cell-spermatid ectopasmic specialization
  • - splicing - 30 253 (microvilli brush border) 2000 10975527
    terminal forked homology and two actin binding sites at the C terminus
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinnercochlea   Rattus norvegicus
    Nervousgangliasensory ganglia    Rattus norvegicus
    Reproductivefemale systemovary   
     male systemmale genital tractepididymis   Rattus norvegicus
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsensorystato-auditory   Rattus norvegicus
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Hearing / Equilibriumstereocilia Homo sapiens
    ReproductiveSertoli cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • eight ankyrin-like repeats in the N terminal, and a additional actin-filament-binding site present in the extended amino-termini of large espin isoforms autoinhibited by binding between the ankyrin repeat domain and a peptide near the actin-binding site
  • an actin-monomer-binding motif WH2
  • a P loop, two proline-rich streches by an actin-binding site
  • a domain of homology with the repetitive motif of trichohyalin
  • a C terminus with a forked Drosophila homology domain (villin headpiece domain)
  • HOMOLOGY
    interspecies homolog to rattus espn
    ortholog to murine Espn
    Homologene
    FAMILY
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,microfilament
    text F-actin rich ectoplasmic specializations at junctional plaques of attachment for elongated spermatides and neighboring Sertoli cells
    basic FUNCTION
  • involved in linking actin filaments to each other or to membranes
  • actin bundling protein playing a key role in the organization and function of the ectoplasmic specialization
  • involved in the elongation or organisation of the hair cell stereocilia
  • having ability to assemble a large actin bundle when targeted to a specific subcellular location
  • Ca(2+)-resistant actin-bundling protein that are enriched in hair cell stereocilia and sensory cell microvilli
  • MYO3A and ESPN have been shown to influence the length of mechanosensory stereocilia 8)
  • required for the growth of hair cell stereocilia
  • in contrast to other actin-bundling proteins such as ESPN, USH1C or EPS8, PLS1 is dispensable for the initial formation of stereocilia
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS reproduction/sex
    text hearing
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ESPN colocalizes with MYO3A at stereocilia tips and interacts with a unique conserved domain of MYO3A 8)
  • like MYO3A, MYO3B can elongate filopodia by transporting ESPN to the polymerizing end of actin filaments
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNB36 , DFNA26
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    deef jerker mice, Eps -/-