SLC26A5
Prestin
Also known as: DFNB61, PRES, S26A5_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P58743
- Gene
- SLC26A5
- Ensembl
- ENSG00000170615
- Chromosome
- 7
- Canonical length
- 744 aa
- Protein class
- Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
- Quaternary structure
- Homodimer
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
744 residues, UniProt reviewed canonical sequence.
>P58743|SLC26A5
1 MDHAEENEIL AATQRYYVER PIFSHPVLQE RLHTKDKVPD SIADKLKQAF TCTPKKIRNI
61 IYMFLPITKW LPAYKFKEYV LGDLVSGIST GVLQLPQGLA FAMLAAVPPI FGLYSSFYPV
121 IMYCFLGTSR HISIGPFAVI SLMIGGVAVR LVPDDIVIPG GVNATNGTEA RDALRVKVAM
181 SVTLLSGIIQ FCLGVCRFGF VAIYLTEPLV RGFTTAAAVH VFTSMLKYLF GVKTKRYSGI
241 FSVVYSTVAV LQNVKNLNVC SLGVGLMVFG LLLGGKEFNE RFKEKLPAPI PLEFFAVVMG
301 TGISAGFNLK ESYNVDVVGT LPLGLLPPAN PDTSLFHLVY VDAIAIAIVG FSVTISMAKT
361 LANKHGYQVD GNQELIALGL CNSIGSLFQT FSISCSLSRS LVQEGTGGKT QLAGCLASLM
421 ILLVILATGF LFESLPQAVL SAIVIVNLKG MFMQFSDLPF FWRTSKIELT IWLTTFVSSL
481 FLGLDYGLIT AVIIALLTVI YRTQSPSYKV LGKLPETDVY IDIDAYEEVK EIPGIKIFQI
541 NAPIYYANSD LYSNALKRKT GVNPAVIMGA RRKAMRKYAK EVGNANMANA TVVKADAEVD
601 GEDATKPEEE DGEVKYPPIV IKSTFPEEMQ RFMPPGDNVH TVILDFTQVN FIDSVGVKTL
661 AGIVKEYGDV GIYVYLAGCS AQVVNDLTRN RFFENPALWE LLFHSIHDAV LGSQLREALA
721 EQEASAPPSQ EDLEPNATPA TPEALocalizationUniProt · AlphaFold · HPA
Whether an antibody against SLC26A5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 14
- Mean surface accessibility (rSASA)
- 0.29
- Highest tissue expression
- 0.7 nTPM
Expression across tissuesHPA
Tissue
- breast: 0.7 nTPM
- cerebellum: 0.7 nTPM
- stomach: 0.5 nTPM
- lung: 0.4 nTPM
- urinary bladder: 0.4 nTPM
- prostate: 0.3 nTPM
Single-cell type
- epicardial cells: 98 nCPM
- prostatic glandular cells: 92 nCPM
- gonadotrophs: 89 nCPM
- cardiomyocytes: 87 nCPM
- prostatic hillock cells: 71 nCPM
- foveolar cells: 71 nCPM
Immune cell
- basophil: 0.4 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebellum: 4.7 nTPM
- white matter: 1.2 nTPM
- midbrain: 1.1 nTPM
- medulla oblongata: 1 nTPM
- hypothalamus: 0.9 nTPM
- spinal cord: 0.9 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SLC26A5.
Disease | AllUniProt
Conditions SLC26A5 is implicated in, by any mechanism.
- Deafness, autosomal recessive, 61 (DFNB61) MIM:613865
Disease | GeneticClinVar
23 pathogenic / likely-pathogenic of 311 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Autosomal recessive nonsyndromic hearing loss 61
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.72
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.9
- DepMap mean gene effect
- -0.07
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 1% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- bicarbonate transport
- chloride transmembrane transport
- chloride transport
- cochlea development
- fructose transmembrane transport
- negative regulation of monoatomic ion transmembrane transport
- oxalate transport
- positive regulation of cell motility
- positive regulation of cell size
- regulation of cell shape
- regulation of membrane potential
- response to auditory stimulus
- response to ischemia
- response to potassium ion
- response to salt
- response to thyroid hormone
- response to xenobiotic stimulus
- sensory perception of sound
- sulfate transmembrane transport
- response to salicylic acid
Molecular functions
- chloride:bicarbonate antiporter activity
- oxalate transmembrane transporter activity
- protein homodimerization activity
- secondary active sulfate transmembrane transporter activity
- spectrin binding
- sulfate transmembrane transporter activity
Cellular components
- basolateral plasma membrane
- lateral plasma membrane
- plasma membrane
- lateral wall of outer hair cell
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SLC26A5 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SLC26A5 as an antibody target. Whether an autoantibody or antibody against SLC26A5 could matter depends on whether native SLC26A5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SLC26A5 is annotated at the cell surface, where native SLC26A5 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label SLC26A5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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