SLC26A5

Protein name: Prestin, SLC26A5 Aliases: N/D Substrates: Cl-, formate, oxalate, SO42- Transport type: Exchanger / Cl-, formate, oxalate, SO42- Tissue and cellular expression: cochlear hair cells Subcellular expression: N/D Disease: (deafness) Locus: 7q22.1 Sequence ID: NP_001161434.1, NM_001167962.1 NP_945350.1, NM_198999.2 NP_996766.1, NM_206883.2 NP_996767.1, NM_206884.2 NP_996768.1, NM_206885.2 Gene ID: 375611 Splice variants: 5 mRNAs, 5 ORFs

S26A5_HUMAN (UniProt)

Gene names: SLC26A5, PRES
Protein names and data: S26A5_HUMAN, Full=Prestin, Full=Solute carrier family 26 member 5; Length: 744 a.a., Mass: 81264 Da,
fasta formatted sequence
Function: Motor protein that converts auditory stimuli to length changes in outer hair cells and mediates sound amplification in the mammalian hearing organ. Prestin is a bidirectional voltage- to-force converter, it can operate at microsecond rates. It uses cytoplasmic anions as extrinsic voltage sensors, probably chloride and bicarbonate. After binding to a site with millimolar affinity, these anions are translocated across the membrane in response to changes in the transmembrane voltage. They move towards the extracellular surface following hyperpolarization, and towards the cytoplasmic side in response to depolarization. As a consequence, this translocation triggers conformational changes in the protein that ultimately alter its surface area in the plane of the plasma membrane. The area decreases when the anion is near the cytoplasmic face of the membrane (short state), and increases when the ion has crossed the membrane to the outer surface (long state). So, it acts as an incomplete transporter. It swings anions across the membrane, but does not allow these anions to dissociate and escape to the extracellular space. Salicylate, an inhibitor of outer hair cell motility, acts as competitive antagonist at the prestin anion-binding site (By similarity)
Disease: (OMIM: 604943 613865) Defects in SLC26A5 are the cause of deafness autosomal recessive type 61 (DFNB61) [MIM:613865]. A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information
Cellular location: Cell membrane; Multi-pass membrane protein (By similarity). Note=Lateral wall of outer hair cells (By similarity)

Database cross-references

UniProt: P58743
NextBio: 100545
OMIM: 604943 613865
Ensembl: ENST00000432958
GeneCard: GC07M103352
PharmGenUCSF: SLC26A5
Guide to Pharmacology: SLC26A5 (1104)
Other SLC26 anion exchangers (1104)
HGNC: HGNC:9359

Genetic variants

See also Ensembl:ENST00000432958

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