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    SLC26A5 solute carrier family 26 member 5 [ Homo sapiens (human) ]

    Gene ID: 375611, updated on 11-Sep-2019

    Summary

    Official Symbol
    SLC26A5provided by HGNC
    Official Full Name
    solute carrier family 26 member 5provided by HGNC
    Primary source
    HGNC:HGNC:9359
    See related
    Ensembl:ENSG00000170615 MIM:604943
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PRES; DFNB61
    Summary
    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]
    Expression
    Ubiquitous expression in adrenal (RPKM 1.9), kidney (RPKM 1.8) and 25 other tissues See more
    Orthologs

    Genomic context

    See SLC26A5 in Genome Data Viewer
    Location:
    7q22.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    109.20190905 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (103352598..103446207, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (102993177..103086624, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene peptidase, mitochondrial processing beta subunit Neighboring gene DnaJ heat shock protein family (Hsp40) member C2 Neighboring gene ribosomal protein S29 pseudogene 16 Neighboring gene proteasome 26S subunit, ATPase 2 Neighboring gene uncharacterized LOC101927870 Neighboring gene RN7SK pseudogene 86 Neighboring gene uncharacterized LOC105375435 Neighboring gene reelin

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    General gene information

    Markers

    Homology

    Clone Names

    • MGC118886, MGC118887, MGC118888, MGC118889

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    anion:anion antiporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    bicarbonate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    chloride transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    oxalate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    secondary active sulfate transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    spectrin binding IEA
    Inferred from Electronic Annotation
    more info
     
    sulfate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    transcription factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    bicarbonate transport IEA
    Inferred from Electronic Annotation
    more info
     
    chloride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    cochlea development IEA
    Inferred from Electronic Annotation
    more info
     
    fructose transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    oxalate transport IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell motility IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell size IEA
    Inferred from Electronic Annotation
    more info
     
    protein tetramerization IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cell shape IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of membrane potential IEA
    Inferred from Electronic Annotation
    more info
     
    response to auditory stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    response to ischemia IEA
    Inferred from Electronic Annotation
    more info
     
    response to potassium ion IEA
    Inferred from Electronic Annotation
    more info
     
    response to salicylic acid IEA
    Inferred from Electronic Annotation
    more info
     
    response to salt IEA
    Inferred from Electronic Annotation
    more info
     
    response to thyroid hormone IEA
    Inferred from Electronic Annotation
    more info
     
    sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    sulfate transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    basolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    lateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    prestin
    Names
    prestin (motor protein)
    solute carrier family 26 (anion exchanger), member 5

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_023055.1 RefSeqGene

      Range
      4971..98448
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001167962.1NP_001161434.1  prestin isoform e

      See identical proteins and their annotated locations for NP_001161434.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (e) lacks an alternate in-frame exon in the 3' coding region, compared to variant a. The resulting isoform (e) lacks an internal segment, compared to isoform a.
      Source sequence(s)
      AF523354, BC100833, DA197655
      Consensus CDS
      CCDS55150.1
      UniProtKB/Swiss-Prot
      P58743
      Related
      ENSP00000389733.2, ENST00000432958.6
      Conserved Domains (2) summary
      cd07042
      Location:494662
      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
      TIGR00815
      Location:66677
      sulP; high affinity sulphate transporter 1
    2. NM_001321787.2NP_001308716.1  prestin isoform f

      Status: REVIEWED

      Source sequence(s)
      AC005064, AY256823, DA197655
      UniProtKB/Swiss-Prot
      P58743
      Conserved Domains (2) summary
      cd07042
      Location:494653
      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
      pfam00916
      Location:81457
      Sulfate_transp; Sulfate permease family
    3. NM_198999.3NP_945350.1  prestin isoform a

      See identical proteins and their annotated locations for NP_945350.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (a), also known as SLC26A5a, represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC005064, AF523354, DA197655
      Consensus CDS
      CCDS5733.1
      UniProtKB/Swiss-Prot
      P58743
      Related
      ENSP00000304783.3, ENST00000306312.7
      Conserved Domains (2) summary
      cd07042
      Location:526694
      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
      TIGR00815
      Location:66709
      sulP; high affinity sulphate transporter 1
    4. NM_206883.3NP_996766.1  prestin isoform b

      See identical proteins and their annotated locations for NP_996766.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (b), also known as SLC26A5b, 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.
      Source sequence(s)
      AC005064, AY256823, DA197655
      Consensus CDS
      CCDS43630.1
      UniProtKB/Swiss-Prot
      P58743
      Related
      ENSP00000342396.6, ENST00000339444.10
      Conserved Domains (2) summary
      cd07042
      Location:526685
      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
      pfam00916
      Location:81475
      Sulfate_transp; Sulfate permease family
    5. NM_206884.3NP_996767.1  prestin isoform c

      See identical proteins and their annotated locations for NP_996767.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (c), also known as SLC26A5c, lacks multiple exons within the coding region and uses 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.
      Source sequence(s)
      AC005064, AY256824, DA197655
      Consensus CDS
      CCDS43629.1
      UniProtKB/Swiss-Prot
      P58743
      Related
      ENSP00000377336.2, ENST00000393735.6
      Conserved Domains (1) summary
      pfam00916
      Location:81475
      Sulfate_transp; Sulfate permease family
    6. NM_206885.3NP_996768.1  prestin isoform d

      See identical proteins and their annotated locations for NP_996768.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (d), also known as SLC26A5d, lacks multiple exons within the coding region and uses 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.
      Source sequence(s)
      AC005064, AY256825, DA197655
      Consensus CDS
      CCDS5732.1
      UniProtKB/Swiss-Prot
      P58743
      Related
      ENSP00000349210.4, ENST00000356767.8
      Conserved Domains (1) summary
      cl28030
      Location:81335
      Sulfate_transp; Sulfate permease family

    RNA

    1. NR_120441.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (f) lacks a 5' exon and two alternate internal exons, compared to variant a. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant a, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD) candidate.
      Source sequence(s)
      AF523354, BC100832
      Related
      ENST00000423416.5
    2. NR_120442.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (g) lacks a 5' exon, uses an alternate internal splice site, and lacks two alternate internal exons, compared to variant a. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant a, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD) candidate.
      Source sequence(s)
      AF523354, BC100834
      Related
      ENST00000445809.5
    3. NR_120443.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (h) lacks a 5' exon and four alternate internal exons, compared to variant a. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant a, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD) candidate.
      Source sequence(s)
      AF523354, BC100835
      Related
      ENST00000454864.5
    4. NR_135801.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AF523354, BC100833, DA197655
    5. NR_135802.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC005064, AY256823, DA197655

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

      Range
      103352598..103446207 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011516170.3XP_011514472.1  prestin isoform X1

      See identical proteins and their annotated locations for XP_011514472.1

      UniProtKB/Swiss-Prot
      P58743
      Conserved Domains (2) summary
      cd07042
      Location:526694
      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
      TIGR00815
      Location:66709
      sulP; high affinity sulphate transporter 1

    RNA

    1. XR_001744726.1 RNA Sequence

    2. XR_001744727.2 RNA Sequence

    3. XR_001744725.2 RNA Sequence

    4. XR_002956437.1 RNA Sequence

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