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FLASH GENE
Symbol SLC26A5 contributors: mct/shn - updated : 06-05-2016
HGNC name solute carrier family 26, member 5 (prestin)
HGNC id 9359
Corresponding disease
DFNB61 deafness, autosomal recessive 61
Location 7q22.1      Physical location : 102.993.176 - 103.086.624
Synonym name
  • solute carrier family 26,member 5
  • prestin (motor protein)
  • deafness, neurosensory, autosomal recessive, 61
  • Synonym symbol(s) PRES, DFNB61, MGC118886, MGC118887, MGC118888, MGC118889
    DNA
    TYPE functioning gene
    STRUCTURE 93.45 kb     20 Exon(s)
    regulatory sequence Binding site   HRE
    motif repetitive sequence   other
    text structure
  • a consensus polyadenylation signal in the 3'UTR of SLC26A5b, SLC26A5c, SLC26A5d
  • a thyroid hormone (TH) response element (TRE) in the first intron upstream of the prestin ATG codon
  • MAPPING cloned Y linked N status provisional
    Map cen - D7S2842 - D7S2448 - SLC26A5 - D7S2504 - D7S658 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 - 2601 - 712 - -
    also called variant e/isoform e
    20 - 2697 81.1 744 - 2008 18567583
    also called variant a/isoform a
    20 - 2518 74.7 685 - 2008 18567583
  • also called variant b/isoform a
  • uses an alternate 3' end-exon compared to variant a, the resulting isoform b has a distinct and shorter C-terminus, as compared to isoform a
  • 15 - 1991 56.3 516 - 2008 18567583
  • also called variant c/isoform c
  • lacking multiple exons within the coding region and using an alternate 3' end-exon compared to variant a, the resulting isoform c has a distinct and shorter C-terminus, as compared to isoform a
  • 10 - 1448 36.8 335 - 2008 18567583
  • also called variant d/isoform d
  • lacking multiple exons within the coding region and using an alternate 3' end-exon compared to variant a, the resulting isoform d has a distinct and shorter C-terminus, as compared to isoform a
  • only 7 TM domains
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/EquilibriumearinnercochleaCorti 
     earouter   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Hearing / Equilibriumcochlea cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES Hydrophobic
    STRUCTURE
    motifs/domains
  • N and C cytoplasmic termini
  • 1012 transmembrane domains linked by intra- and extracellular loops
  • a sulfate transporter motif
  • a STAS domain (sulfate transporter and anti-sigma factor antagonist)
  • a segment of 11 AAs in eutherian prestin that is extremely conserved among eutherian species but highly variable among non-mammalian orthologs and SLC26A paralogs
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to Slc26a5, Mus musculus
    ortholog to slc26a5, Danio rerio
    ortholog to SLC26A5, Pan troglodytes
    ortholog to Slc26a5, Rattus norvegicus
    intraspecies homolog to pendrin
    homolog to SLC26A2, SLC26A3, SLC26A4
    Homologene
    FAMILY
  • SLC26/SulP anion transporter family
  • SLC26A/SulP transporter family
  • CATEGORY transport
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • present in the basolateral membrane of cochlear outer hair cells (OHCs)
  • basic FUNCTION
  • motor protein of the cochlear outer hair cells, required for electromotility of the outer hair cell and for the cochlear amplifier
  • having a role for cochlea function and hearing
  • acting as an incomplete transporter, it swings anions across the membrane, but does not allow these anions to dissociate and escape to the extracellular space
  • functioning as a membrane motor based on piezoelectricity and may be a a prestin-containing complex in outer hair cells
  • acting as a a membrane-based motor that powers a membrane-based motor that powers cochlear outer hair cell electromotility, enabling amplification and fine-tuning of auditory signals
  • motor protein responsible for cochlear outer hair cell (OHC) somatic electromotility
  • has two voltage-dependent conformational transition steps, both of which generate mechanical displacement (two steps having distinct electromechanical coupling efficiencies)
  • is unique in its family in that it functions as a voltage-dependent motor protein manifested by two hallmarks, nonlinear capacitance and motility
  • can act as a weak Cl(-)/HCO(3)(-) antiporter and in addition to participating in wide band cochlear sound amplification, prestin may also be involved in the slow time scale (>10 s) phenomena
  • SLC26A5 which evolved from the SLC26 anion transporter family, underlies the Outer hair cells (OHCs) voltage-dependent mechanical activity (eM)
  • outer hair cell (OHC) motor protein prestin necessary for electromotility, which drives cochlear amplification and producing exquisitely sharp frequency tuning
  • increases in an attempt to partially compensate for reduced force production because of missing
  • its unique quasi-piezoelectric mechanical activity generates fast cellular motility of cochlear outer hair cells, a key process underlying active amplification in the mammalian ear
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text a molecular motor in motile outer hair cells of the cochlea
    PATHWAY
    metabolism
    signaling sensory transduction/hearing
    auditory processing
    a component
    INTERACTION
    DNA
    RNA
    small molecule other, anions
    protein
  • may interact physically with CFTR in the lateral membrane of OHCs (CFTR is capable of enhancing voltage-dependent charge displacement, a signature of OHC motility, whereas prestin does not affect the chloride conductance of CFTR)
  • microtubule-associated protein 1S, MAP1S
  • appears to modify the expression of VAPA protein in outer hair cells (OHC), and VAPA could be involved in SLC26A5 transportation inside OHCs and may facilitate the targeting of this abundant OHC protein to the plasma membrane
  • CALM1-SLC26A5 interaction may be involved in the medial olivocochlear (MOC)-mediated modulation of cochlear amplification
  • likely SPAG6 gene could affect hearing by regulating the expression of SLC26A5 gene
  • cell & other
    REGULATION
    activated by thyroid hormone
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNB61
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    homozygous mutant mice had a loss of outer hair cell electromotility in vitro and a 40-60 dB loss of cochlear sensitivity in vivo, without disruption of mechanoelectrical transduction in outer hair cells
  • in heterozygotes, electromotility was halved and there was a 2-fold (about 6 dB) increase in cochlear thresholds