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

Gene ID: 375611, updated on 13-Feb-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 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (103352598..103446177, 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 RNA, 7SK small nuclear 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 FunctionsWhat'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
    5001..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_001321787.1NP_001308716.1  prestin isoform f

    Status: REVIEWED

    Source sequence(s)
    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_198999.2NP_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)
    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_206883.2NP_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)
    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_206884.2NP_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)
    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_206885.2NP_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)
    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_135802.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AY256823, DA197655

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    103352598..103446177 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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