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

    Gene ID: 375611, updated on 19-Sep-2024

    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; AllianceGenome:HGNC:9359
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC26A5 in Genome Data Viewer
    Location:
    7q22.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (103352730..103446207, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (104667171..104760648, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (102993177..103086654, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26442 Neighboring gene peptidase, mitochondrial processing subunit beta Neighboring gene DnaJ heat shock protein family (Hsp40) member C2 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:103021047-103021334 Neighboring gene ribosomal protein S29 pseudogene 16 Neighboring gene Sharpr-MPRA regulatory region 10264 Neighboring gene proteasome 26S subunit, ATPase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:103086027-103086603 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18511 Neighboring gene SLC26A5 antisense RNA 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:103130126-103131325 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 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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC118886, MGC118887, MGC118888, MGC118889

    Gene Ontology Provided by GOA

    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 ISS
    Inferred from Sequence or Structural Similarity
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables secondary active sulfate transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables spectrin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables sulfate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in bicarbonate transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in chloride transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in chloride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chloride transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cochlea development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in fructose transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of monoatomic ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in oxalate transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell motility IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell size IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cell shape IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of membrane potential IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to auditory stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to ischemia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to potassium ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to salicylic acid IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to salt IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to thyroid hormone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sulfate transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sulfate transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in basolateral plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in lateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lateral wall of outer hair cell IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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..76971
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001167962.2NP_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)
      AC005064, AF523354, BC100833, DA197655
      Consensus CDS
      CCDS55150.1
      UniProtKB/TrEMBL
      Q7Z7F4
      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/TrEMBL
      Q7Z7F4
      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, Q496J2, Q7Z7F3, Q86UF8, Q86UF9, Q86UG0
      UniProtKB/TrEMBL
      Q7Z7F4
      Related
      ENSP00000304783.3, ENST00000306312.8
      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/TrEMBL
      Q7Z7F4
      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/TrEMBL
      Q496J3
      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
      pfam00916
      Location:81325
      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_135801.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC005064, AF523354, BC100833, DA197655
    5. NR_135802.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC005064, AY256823, DA197655

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      103352730..103446207 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011516170.4XP_011514472.1  prestin isoform X2

      See identical proteins and their annotated locations for XP_011514472.1

      UniProtKB/Swiss-Prot
      P58743, Q496J2, Q7Z7F3, Q86UF8, Q86UF9, Q86UG0
      UniProtKB/TrEMBL
      Q7Z7F4
      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
    2. XM_047420347.1XP_047276303.1  prestin isoform X1

      UniProtKB/TrEMBL
      Q496J3

    RNA

    1. XR_007060034.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      104667171..104760648 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358167.1XP_054214142.1  prestin isoform X1

      UniProtKB/TrEMBL
      Q496J3

    RNA

    1. XR_008487614.1 RNA Sequence