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Slc26a5 solute carrier family 26, member 5 [ Mus musculus (house mouse) ]

Gene ID: 80979, updated on 11-Apr-2024

Summary

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Official Symbol
Slc26a5provided by MGI
Official Full Name
solute carrier family 26, member 5provided by MGI
Primary source
MGI:MGI:1933154
See related
Ensembl:ENSMUSG00000029015 AllianceGenome:MGI:1933154
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Pres; prestin
Summary
Enables spectrin binding activity. Acts upstream of or within regulation of membrane potential. Located in basolateral plasma membrane; lateral plasma membrane; and lateral wall of outer hair cell. Is expressed in brain; cochlea; embryo; and organ of Corti. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 61. Orthologous to human SLC26A5 (solute carrier family 26 member 5). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
human all
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Genomic context

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Location:
5 A3; 5 9.97 cM
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (22013999..22070602, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (21809001..21865604, complement)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene DnaJ heat shock protein family (Hsp40) member C2 Neighboring gene proteasome (prosome, macropain) 26S subunit, ATPase 2 Neighboring gene STARR-seq mESC enhancer starr_12580 Neighboring gene ribosomal protein L17 pseudogene Neighboring gene STARR-seq mESC enhancer starr_12582 Neighboring gene reelin Neighboring gene predicted gene 10475 Neighboring gene DnaJ heat shock protein family (Hsp40) member A1, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Sox2 overexpression alleviates noise-induced hearing loss by inhibiting inflammation-related hair cell apoptosis. Chen D, et al. J Neuroinflammation, 2022 Feb 28. PMID 35227273, Free PMC Article
  2. Prestin amplifies cardiac motor functions. Zhang XD, et al. Cell Rep, 2021 May 4. PMID 33951436, Free PMC Article
  3. Loss of the Cochlear Amplifier Prestin Reduces Temporal Processing Efficacy in the Central Auditory System. Walton JP, et al. Front Cell Neurosci, 2018. PMID 30297983, Free PMC Article
  4. Prestin Contributes to Membrane Compartmentalization and Is Required for Normal Innervation of Outer Hair Cells. Takahashi S, et al. Front Cell Neurosci, 2018. PMID 30079013, Free PMC Article
  5. Abnormal mRNA splicing but normal auditory brainstem response (ABR) in mice with the prestin (SLC26A5) IVS2-2A>G mutation. Zhang J, et al. Mutat Res, 2016 Aug. PMID 27232762, Free PMC Article

See all (96) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The pathogenic roles of the p.R130S prestin variant in DFNB61 hearing loss.
    Title: The pathogenic roles of the p.R130S prestin variant in DFNB61 hearing loss.
  2. Deletion of exons 17 and 18 in prestin's STAS domain results in loss of function.
    Title: Deletion of exons 17 and 18 in prestin's STAS domain results in loss of function.
  3. Oxidative stress inhibits the expression of Prestin protein, and the transcription mechanism is triggered to compensate for the loss of Prestin protein in HEI-OC1 cells. AP-2delta is one of the important TFs that suppresses transcription of the Prestin gene, and AP-2delta suppression further boosted Prestin mRNA activation under oxidative stress.
    Title: The effect of AP-2δ on transcription of the Prestin gene in HEI-OC1 cells upon oxidative stress.
  4. response of endogenously expressed prestin in HEI-OC1 cells is different from the response of prestin expressed exogenously in non-auditory cells
    Title: HEI-OC1 cells as a model for investigating prestin function.
  5. The IVS2-2A>G mutation in the Slc26a5 gene is insufficient to cause hearing loss in mice.
    Title: Abnormal mRNA splicing but normal auditory brainstem response (ABR) in mice with the prestin (SLC26A5) IVS2-2A>G mutation.
  6. Prestin expression imparts susceptibility to 2-hydroxypropyl-beta-cyclodextrin-induced hearing loss.
    Title: Susceptibility of outer hair cells to cholesterol chelator 2-hydroxypropyl-β-cyclodextrine is prestin-dependent.
  7. Prestin missense mutations reduce outer hair cell survival in knockin mice.
    Title: Prestin-Dependence of Outer Hair Cell Survival and Partial Rescue of Outer Hair Cell Loss in PrestinV499G/Y501H Knockin Mice.
  8. demonstrate that OHC lateral wall structure constrains the mobility of plasma membrane proteins and that the integrity of such membrane-associated structures are critical for Slc26a5's active and structural roles
    Title: Outer Hair Cell Lateral Wall Structure Constrains the Mobility of Plasma Membrane Proteins.
  9. SPAG6 is indispensible for the stability of outer hair cells by maintaining the normal expression of prestin
    Title: Expression of prestin in OHCs is reduced in Spag6 gene knockout mice.
  10. prestin is up-regulated by 32-58% in residual outer hair cell after noise exposure and that the prestin is functional.
    Title: Prestin regulation and function in residual outer hair cells after noise-induced hearing loss.
Submit: New GeneRIF Correction See all GeneRIFs (38)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

General gene information

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Markers

Homology

Clone Names

  • MGC124328, MGC124329

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables bicarbonate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables chloride transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables chloride:bicarbonate antiporter activity ISO
Inferred from Sequence Orthology
more info
  
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
enables oxalate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
  
enables secondary active sulfate transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
  
enables spectrin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables sulfate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in bicarbonate transport ISO
Inferred from Sequence Orthology
more info
  
involved_in chloride transmembrane transport ISO
Inferred from Sequence Orthology
more info
  
involved_in chloride transport ISO
Inferred from Sequence Orthology
more info
  
involved_in fructose transmembrane transport ISO
Inferred from Sequence Orthology
more info
  
involved_in monoatomic anion transmembrane transport ISO
Inferred from Sequence Orthology
more info
  
involved_in monoatomic ion transmembrane transport ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of monoatomic ion transmembrane transport ISO
Inferred from Sequence Orthology
more info
  
involved_in oxalate transport ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of cell motility ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of cell size ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within regulation of cell shape IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within regulation of membrane potential IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in sensory perception of sound ISO
Inferred from Sequence Orthology
more info
  
involved_in sulfate transport IEA
Inferred from Electronic Annotation
more info
  
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in basolateral plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in basolateral plasma membrane ISO
Inferred from Sequence Orthology
more info
  
located_in lateral plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in lateral plasma membrane ISO
Inferred from Sequence Orthology
more info
  
located_in lateral wall of outer hair cell IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
prestin
Names
outer hair cell motor protein
prestin (motor protein)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001289787.1 → NP_001276716.1  prestin isoform 2

    See identical proteins and their annotated locations for NP_001276716.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 2, which lacks an internal segment and is shorter, compared to isoform 1.
    Source sequence(s)
    AC113028, AC125313, AY024359, CJ076475
    Consensus CDS
    CCDS71547.1
    UniProtKB/TrEMBL
    D3Z013, Q32MT6
    Related
    ENSMUSP00000110830.2, ENSMUST00000115176.8
    Conserved Domains (3) summary
    cd07042
    Location:489 → 657
    STAS_SulP_like_sulfate_transporter; Sulphate Transporter and Anti-Sigma factor antagonist domain of SulP-like sulfate transporters, plays a role in the function and regulation of the transport activity, proposed general NTP binding function
    cd07043
    Location:552 → 646
    STAS_anti-anti-sigma_factors; Sulphate Transporter and Anti-Sigma factor antagonist) domain of anti-anti-sigma factors, key regulators of anti-sigma factors by phosphorylation
    TIGR00815
    Location:66 → 672
    sulP; high affinity sulphate transporter 1

  2. NM_001289788.1 → NP_001276717.1  prestin isoform 3

    See identical proteins and their annotated locations for NP_001276717.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 3, which is shorter at the N-terminus, compared to isoform 1.
    Source sequence(s)
    AC113028, AC125313, AY024359, CJ076475
    UniProtKB/TrEMBL
    Q32MT7
    Conserved Domains (3) summary
    cd07042
    Location:260 → 428
    STAS_SulP_like_sulfate_transporter; Sulphate Transporter and Anti-Sigma factor antagonist domain of SulP-like sulfate transporters, plays a role in the function and regulation of the transport activity, proposed general NTP binding function
    cd07043
    Location:323 → 417
    STAS_anti-anti-sigma_factors; Sulphate Transporter and Anti-Sigma factor antagonist) domain of anti-anti-sigma factors, key regulators of anti-sigma factors by phosphorylation
    TIGR00815
    Location:5 → 443
    sulP; high affinity sulphate transporter 1

  3. NM_030727.5 → NP_109652.3  prestin isoform 1

    See identical proteins and their annotated locations for NP_109652.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC113028, AC125313, AY024359, CJ076475
    Consensus CDS
    CCDS19109.1
    UniProtKB/Swiss-Prot
    Q80ZB1, Q99NH7
    UniProtKB/TrEMBL
    D3Z013
    Related
    ENSMUSP00000030878.2, ENSMUST00000030878.8
    Conserved Domains (3) summary
    cd07042
    Location:526 → 694
    STAS_SulP_like_sulfate_transporter; Sulphate Transporter and Anti-Sigma factor antagonist domain of SulP-like sulfate transporters, plays a role in the function and regulation of the transport activity, proposed general NTP binding function
    cd07043
    Location:589 → 683
    STAS_anti-anti-sigma_factors; Sulphate Transporter and Anti-Sigma factor antagonist) domain of anti-anti-sigma factors, key regulators of anti-sigma factors by phosphorylation
    TIGR00815
    Location:66 → 709
    sulP; high affinity sulphate transporter 1

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    22013999..22070602 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006535818.1 → XP_006535881.1  prestin isoform X1

    UniProtKB/TrEMBL
    D3Z013
    Conserved Domains (2) summary
    cd07043
    Location:527 → 621
    STAS_anti-anti-sigma_factors; Sulphate Transporter and Anti-Sigma factor antagonist) domain of anti-anti-sigma factors, key regulators of anti-sigma factors by phosphorylation
    TIGR00815
    Location:4 → 647
    sulP; high affinity sulphate transporter 1
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99NH7.3 GenPept UniProtKB/Swiss-Prot:Q99NH7

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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Chemical Information
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