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

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: mouse all
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Genomic context

Location:: 7q22.1

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (103352730..103446207, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (104667171..104760648, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (102993177..103086654, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Evaluation of inner ear damage by mastoid drilling with measurement of serum prestin (SLC26A5) levels.
Title: Evaluation of inner ear damage by mastoid drilling with measurement of serum prestin (SLC26A5) levels.
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.
Functional Studies of Deafness-Associated Pendrin and Prestin Variants.
Title: Functional Studies of Deafness-Associated Pendrin and Prestin Variants.
Noise exposure levels predict blood levels of the inner ear protein prestin.
Title: Noise exposure levels predict blood levels of the inner ear protein prestin.
Molecular mechanism of prestin electromotive signal amplification.
Title: Molecular mechanism of prestin electromotive signal amplification.
Prestin and otolin-1 proteins in the hearing loss of adults chronically exposed to lead.
Title: Prestin and otolin-1 proteins in the hearing loss of adults chronically exposed to lead.
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.
prestin itself is the main regulator of intracellular chloride concentration via a route distinct from its transporter pathway.
Title: Current carried by the Slc26 family member prestin does not flow through the transporter pathway.
extracellular loop of pendrin and prestin modulates their voltage-sensing property
Title: The extracellular loop of pendrin and prestin modulates their voltage-sensing property.
Our study thus provides experimental evidence that supports a causal relationship between the R130S mutation in the prestin gene and hearing loss found in patients with this missense mutation.
Title: The R130S mutation significantly affects the function of prestin, the outer hair cell motor protein.

Submit: New GeneRIF Correction See all GeneRIFs (37)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal recessive nonsyndromic hearing loss 61 MedGen: C3151230 OMIM: 613865 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH69239 (e-PCR)
- UniSTS:64018

B296YE5 (e-PCR)
- UniSTS:29598

RH11504 (e-PCR)
- UniSTS:44750

SGC32632 (e-PCR)
- UniSTS:13306

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 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	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	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

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Preferred Names: prestin

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

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.

Genomic

NG_023055.1 RefSeqGene

Range

4971..76971

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001167962.2 → NP_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:494 → 662

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:66 → 677

sulP; high affinity sulphate transporter 1
NM_001321787.2 → NP_001308716.1 prestin isoform f

Status: REVIEWED

Source sequence(s)

AC005064, AY256823, DA197655

UniProtKB/TrEMBL

Q7Z7F4

Conserved Domains (2) summary

cd07042
Location:494 → 653

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:81 → 457

Sulfate_transp; Sulfate permease family
NM_198999.3 → NP_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: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

TIGR00815
Location:66 → 709

sulP; high affinity sulphate transporter 1
NM_206883.3 → NP_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:526 → 685

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:81 → 475

Sulfate_transp; Sulfate permease family
NM_206884.3 → NP_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

Related

ENSP00000377336.2, ENST00000393735.6

Conserved Domains (1) summary

pfam00916
Location:81 → 475

Sulfate_transp; Sulfate permease family
NM_206885.3 → NP_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:81 → 325

Sulfate_transp; Sulfate permease family

RNA

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
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
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
NR_135801.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC005064, AF523354, BC100833, DA197655
NR_135802.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC005064, AY256823, DA197655

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

103352730..103446207 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011516170.4 → XP_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: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

TIGR00815
Location:66 → 709

sulP; high affinity sulphate transporter 1
XM_047420347.1 → XP_047276303.1 prestin isoform X1