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Aliases for SLC26A5 Gene

Aliases for SLC26A5 Gene

  • Solute Carrier Family 26 (Anion Exchanger), Member 5 2 3
  • PRES 3 4 6
  • Prestin (Motor Protein) 2 3
  • Solute Carrier Family 26 Member 5 4
  • Autosomal Recessive 2
  • Neurosensory 2
  • Deafness 2
  • Prestin 3
  • DFNB61 3
  • 61 2

External Ids for SLC26A5 Gene

Previous HGNC Symbols for SLC26A5 Gene

  • PRES

Previous GeneCards Identifiers for SLC26A5 Gene

  • GC07M102588
  • GC07M102780
  • GC07M102993
  • GC07M097355

Summaries for SLC26A5 Gene

Entrez Gene Summary for SLC26A5 Gene

  • This gene encodes a member of the SLC26A/SulP transporter family. The protein functions as a molecular motor in motile outer hair cells (OHCs) of the cochlea, inducing changes in cell length that act to amplify sound levels. The transmembrane protein is an incomplete anion transporter, and does not allow anions to cross the cell membrane but instead undergoes a conformational change in response to changes in intracellular Cl- levels that results in a change in cell length. The protein functions at microsecond rates, which is several orders of magnitude faster than conventional molecular motor proteins. Mutations in this gene are potential candidates for causing neurosensory deafness. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009]

GeneCards Summary for SLC26A5 Gene

SLC26A5 (Solute Carrier Family 26 (Anion Exchanger), Member 5) is a Protein Coding gene. Diseases associated with SLC26A5 include deafness, autosomal recessive 61 and dfnb61 nonsyndromic hearing loss and deafness. GO annotations related to this gene include spectrin binding and secondary active sulfate transmembrane transporter activity. An important paralog of this gene is SLC26A2.

UniProtKB/Swiss-Prot for SLC26A5 Gene

  • 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).

Gene Wiki entry for SLC26A5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC26A5 Gene

Genomics for SLC26A5 Gene

Regulatory Elements for SLC26A5 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SLC26A5 Gene

Start:
103,352,730 bp from pter
End:
103,446,177 bp from pter
Size:
93,448 bases
Orientation:
Minus strand

Genomic View for SLC26A5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC26A5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC26A5 Gene

Proteins for SLC26A5 Gene

  • Protein details for SLC26A5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P58743-S26A5_HUMAN
    Recommended name:
    Prestin
    Protein Accession:
    P58743
    Secondary Accessions:
    • Q496J2
    • Q7Z7F3
    • Q86UF8
    • Q86UF9
    • Q86UG0

    Protein attributes for SLC26A5 Gene

    Size:
    744 amino acids
    Molecular mass:
    81264 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC26A5 Gene

neXtProt entry for SLC26A5 Gene

Proteomics data for SLC26A5 Gene at MOPED

Post-translational modifications for SLC26A5 Gene

  • Glycosylation at Asn163 and Asn166
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for SLC26A5 Gene

Domains for SLC26A5 Gene

Gene Families for SLC26A5 Gene

HGNC:
  • SLC :Solute carriers
IUPHAR :

Protein Domains for SLC26A5 Gene

Suggested Antigen Peptide Sequences for SLC26A5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P58743

UniProtKB/Swiss-Prot:

S26A5_HUMAN :
  • P58743
Domain:
  • Contains 1 STAS domain.
Family:
  • Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.
genes like me logo Genes that share domains with SLC26A5: view

Function for SLC26A5 Gene

Molecular function for SLC26A5 Gene

UniProtKB/Swiss-Prot 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).

Gene Ontology (GO) - Molecular Function for SLC26A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0008271 secondary active sulfate transmembrane transporter activity IEA --
GO:0015116 sulfate transmembrane transporter activity --
GO:0030507 spectrin binding IEA --
genes like me logo Genes that share ontologies with SLC26A5: view
genes like me logo Genes that share phenotypes with SLC26A5: view

Animal Models for SLC26A5 Gene

MGI Knock Outs for SLC26A5:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC26A5

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for SLC26A5 Gene

Localization for SLC26A5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC26A5 Gene

Cell membrane; Multi-pass membrane protein. Note=Lateral wall of outer hair cells. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC26A5 Gene COMPARTMENTS Subcellular localization image for SLC26A5 gene
Compartment Confidence
plasma membrane 5
peroxisome 2

Gene Ontology (GO) - Cellular Components for SLC26A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane --
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
GO:0016323 basolateral plasma membrane IEA --
GO:0016328 lateral plasma membrane IEA --
genes like me logo Genes that share ontologies with SLC26A5: view

Pathways for SLC26A5 Gene

SuperPathways for SLC26A5 Gene

No Data Available

Interacting Proteins for SLC26A5 Gene

Gene Ontology (GO) - Biological Process for SLC26A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007605 sensory perception of sound IMP 12719379
GO:0008272 sulfate transport --
GO:0008360 regulation of cell shape IEA --
GO:0042391 regulation of membrane potential IEA --
GO:0055085 transmembrane transport --
genes like me logo Genes that share ontologies with SLC26A5: view

No data available for Pathways by source for SLC26A5 Gene

Compounds for SLC26A5 Gene

(2) HMDB Compounds for SLC26A5 Gene

Compound Synonyms Cas Number PubMed IDs
Chlorine
  • Cl2
16887-00-6
Hydrogen carbonate
  • Bicarbonate
71-52-3

(12) Novoseek inferred chemical compound relationships for SLC26A5 Gene

Compound -log(P) Hits PubMed IDs
salicylic acid 57.2 11
chloride 47.2 8
sulfate 35 4
bicarbonate 32.1 5
oxalate 30.6 2
genes like me logo Genes that share compounds with SLC26A5: view

Transcripts for SLC26A5 Gene

Unigene Clusters for SLC26A5 Gene

Solute carrier family 26, member 5 (prestin):
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC26A5

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC26A5 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
SP1:
SP2: -

Relevant External Links for SLC26A5 Gene

GeneLoc Exon Structure for
SLC26A5
ECgene alternative splicing isoforms for
SLC26A5

Expression for SLC26A5 Gene

mRNA expression in normal human tissues for SLC26A5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC26A5 Gene

This gene is overexpressed in Bladder (5.4), Brain - Cerebellum (5.3), and Brain - Cerebellar Hemisphere (5.3).

Protein differential expression in normal tissues for SLC26A5 Gene

This gene is overexpressed in Heart (44.9), Retina (12.4), and Adipocyte (11.2).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for SLC26A5 Gene

SOURCE GeneReport for Unigene cluster for SLC26A5 Gene Hs.585146

genes like me logo Genes that share expressions with SLC26A5: view

Expression partners for SLC26A5 Gene

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for SLC26A5 Gene

Orthologs for SLC26A5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC26A5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC26A5 35
  • 92.2 (n)
  • 96.21 (a)
SLC26A5 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC26A5 35
  • 91.94 (n)
  • 96.77 (a)
SLC26A5 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc26a5 35
  • 87.86 (n)
  • 95.03 (a)
Slc26a5 16
Slc26a5 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC26A5 35
  • 99.46 (n)
  • 99.6 (a)
SLC26A5 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc26a5 35
  • 87.1 (n)
  • 94.49 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC26A5 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC26A5 36
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC26A5 35
  • 65.6 (n)
  • 60.39 (a)
SLC26A5 36
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC26A5 36
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc26a5 35
  • 62.42 (n)
  • 58.17 (a)
Str.12143 35
zebrafish
(Danio rerio)
Actinopterygii pres 35
slc26a5 35
  • 59.25 (n)
  • 55.1 (a)
slc26a5 36
  • 52 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010389 35
  • 25.36 (n)
  • 4.79 (a)
fruit fly
(Drosophila melanogaster)
Insecta Prestin 35
  • 47.85 (n)
  • 35.54 (a)
worm
(Caenorhabditis elegans)
Secernentea sulp-8 35
  • 50.3 (n)
  • 39.96 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AST91 35
  • 44.58 (n)
  • 35.13 (a)
rice
(Oryza sativa)
Liliopsida Os04g0652400 35
  • 43.29 (n)
  • 30.08 (a)
Species with no ortholog for SLC26A5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC26A5 Gene

ENSEMBL:
Gene Tree for SLC26A5 (if available)
TreeFam:
Gene Tree for SLC26A5 (if available)

Paralogs for SLC26A5 Gene

genes like me logo Genes that share paralogs with SLC26A5: view

Variants for SLC26A5 Gene

Sequence variations from dbSNP and Humsavar for SLC26A5 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs598315 -- 103,403,593(-) aacca(A/G)aaaag intron-variant
rs598319 -- 103,403,590(-) caaaa(A/G)agcta intron-variant
rs733267 -- 103,431,454(-) TCCCA(C/G)TTACT intron-variant
rs735459 -- 103,424,359(-) CTCAA(A/G)GAATT intron-variant
rs1075737 -- 103,430,746(+) AAATC(A/G)TGCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC26A5 Gene

Variant ID Type Subtype PubMed ID
nsv5884 CNV Insertion 18451855
nsv5885 CNV Insertion 18451855

Relevant External Links for SLC26A5 Gene

HapMap Linkage Disequilibrium report
SLC26A5
Human Gene Mutation Database (HGMD)
SLC26A5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC26A5 Gene

Disorders for SLC26A5 Gene

(1) OMIM Diseases for SLC26A5 Gene (604943)

UniProtKB/Swiss-Prot

S26A5_HUMAN
  • Deafness, autosomal recessive, 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. {ECO:0000269 PubMed:12719379}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) Novoseek inferred disease relationships for SLC26A5 Gene

Disease -log(P) Hits PubMed IDs
diastrophic dysplasia 71.3 1
pendred syndrome 68 1
ototoxicity 54.7 1
hepatitis b 34.9 4

Relevant External Links for SLC26A5

Genetic Association Database (GAD)
SLC26A5
Human Genome Epidemiology (HuGE) Navigator
SLC26A5
genes like me logo Genes that share disorders with SLC26A5: view

No data available for Genatlas for SLC26A5 Gene

Publications for SLC26A5 Gene

  1. Prestin is the motor protein of cochlear outer hair cells. (PMID: 10821263) Zheng J. … Dallos P. (Nature 2000) 2 3 23
  2. Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss. (PMID: 12719379) Liu X.Z. … Chen Z.-Y. (Hum. Mol. Genet. 2003) 3 4 23
  3. High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss. (PMID: 16086836) Tang H.Y. … Alford R.L. (BMC Med. Genet. 2005) 3 23 48
  4. Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss. (PMID: 19027966) Teek R. … Ounap K. (Int. J. Pediatr. Otorhinolaryngol. 2009) 3 23 48
  5. DNA sequence analysis of SLC26A5, encoding prestin, in a patient-control cohort: identification of fourteen novel DNA sequence variations. (PMID: 19492055) Minor J.S. … Alford R.L. (PLoS ONE 2009) 3 23 48

Products for SLC26A5 Gene

Sources for SLC26A5 Gene

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