Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol LHFPL5 contributors: mct - updated : 12-12-2017
HGNC name lipoma HMGIC fusion partner-like 5
HGNC id 21253
Corresponding disease
DFNB67 neurosensory deafness 67
Location 6p21.31      Physical location : 35.773.070 - 35.791.852
Synonym name
  • tetraspan membrane protein of hair cell stereocilia
  • LHFP-like protein 5
  • Synonym symbol(s) MGC33835, dJ510O8.8, TMHS, DFNB67
    DNA
    TYPE functioning gene
    STRUCTURE 18.78 kb     4 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 2147 - 219 - 2016 26964900
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinnercochlea   Homo sapiens
     earinnervestibule   Homo sapiens
    Nervousbrain   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Hearing / Equilibriumhair cell receptor Homo sapiens
    Hearing / Equilibriumstereocilia Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to rattus lhfpl5 (88 pc)
    ortholog to murine Thms (88 pc)
    Homologene
    FAMILY
  • lipoma HMGIC fusion partner (LHFP) family
  • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • is localized at least in part to the tips of hair cell stereocilia in close proximity to their tip links
  • basic FUNCTION
  • playing an essential role for normal function of the cochlea
  • is an auxiliary subunit of the hair cells mechanotransduction channel
  • PCDH15 and LHFPL5 facilitate each otherís cell surface transport
  • regulates transducer channel conductance and is required for fast channel adaptation
  • LHFPL5, TMIE, TMC1, and TMC2 have so far been linked to the transduction channel
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • TMIE forms a ternary complex with the tip-link component PCDH15 and its binding partner LHFPL5
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • is an integral component of the hair cells mechanotransduction machinery that functionally couples PCDH15 to the transduction channel
  • both LHFPL5 and TMC1 were shown to interact with PCDH15, a component of the tip link, which applies force to the mechanotransducer (MT) channel
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNB67
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • in mice harboring an Lhfpl5 null mutation, the unitary conductance of outer hair cell mechanotransducer (MT) channels was reduced relative to wild type, and the tonotopic gradient in conductance, where channels from the cochlear base are nearly twice as conducting as those at the apex, was almost absent