Slc26a5 solute carrier family 26, member 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Slc26a5provided by MGI
Official Full Name: solute carrier family 26, member 5provided by MGI
Primary source: MGI:MGI:1933154
See related: Ensembl:ENSMUSG00000029015 AllianceGenome:MGI:1933154
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Pres; prestin
Summary: Enables spectrin binding activity. Acts upstream of or within regulation of membrane potential. Located in basolateral plasma membrane; lateral plasma membrane; and lateral wall of outer hair cell. Is expressed in brain; cochlea; embryo; and organ of Corti. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 61. Orthologous to human SLC26A5 (solute carrier family 26 member 5). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 5 A3; 5 9.97 cM

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (22013999..22070602, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (21809001..21865604, complement)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Oxidative stress inhibits the expression of Prestin protein, and the transcription mechanism is triggered to compensate for the loss of Prestin protein in HEI-OC1 cells. AP-2delta is one of the important TFs that suppresses transcription of the Prestin gene, and AP-2delta suppression further boosted Prestin mRNA activation under oxidative stress.
Title: The effect of AP-2δ on transcription of the Prestin gene in HEI-OC1 cells upon oxidative stress.
response of endogenously expressed prestin in HEI-OC1 cells is different from the response of prestin expressed exogenously in non-auditory cells
Title: HEI-OC1 cells as a model for investigating prestin function.
The IVS2-2A>G mutation in the Slc26a5 gene is insufficient to cause hearing loss in mice.
Title: Abnormal mRNA splicing but normal auditory brainstem response (ABR) in mice with the prestin (SLC26A5) IVS2-2A>G mutation.
Prestin expression imparts susceptibility to 2-hydroxypropyl-beta-cyclodextrin-induced hearing loss.
Title: Susceptibility of outer hair cells to cholesterol chelator 2-hydroxypropyl-β-cyclodextrine is prestin-dependent.
Prestin missense mutations reduce outer hair cell survival in knockin mice.
Title: Prestin-Dependence of Outer Hair Cell Survival and Partial Rescue of Outer Hair Cell Loss in PrestinV499G/Y501H Knockin Mice.
demonstrate that OHC lateral wall structure constrains the mobility of plasma membrane proteins and that the integrity of such membrane-associated structures are critical for Slc26a5's active and structural roles
Title: Outer Hair Cell Lateral Wall Structure Constrains the Mobility of Plasma Membrane Proteins.
SPAG6 is indispensible for the stability of outer hair cells by maintaining the normal expression of prestin
Title: Expression of prestin in OHCs is reduced in Spag6 gene knockout mice.
prestin is up-regulated by 32-58% in residual outer hair cell after noise exposure and that the prestin is functional.
Title: Prestin regulation and function in residual outer hair cells after noise-induced hearing loss.

Submit: New GeneRIF Correction See all GeneRIFs (38)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (7) 1 citation
Targeted (8) 1 citation

General gene information

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Markers

D5Mit61 (e-PCR), detects polymorphism
- UniSTS:130599

D5Buc45 (e-PCR), detects polymorphism
- UniSTS:166273

Slc26a5 (e-PCR), detects polymorphism
- UniSTS:532118

Slc26a5 (e-PCR), detects polymorphism
- UniSTS:545999

Gene Ontology Provided by MGI

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	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
enables secondary active sulfate transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
enables spectrin binding	IDA Inferred from Direct Assay more info	PubMed
enables sulfate transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in bicarbonate transport	ISO Inferred from Sequence Orthology more info
involved_in chloride transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in chloride transport	ISO Inferred from Sequence Orthology more info
involved_in fructose transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in monoatomic anion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in monoatomic ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of monoatomic ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in oxalate transport	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell motility	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell size	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of cell shape	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of membrane potential	IDA Inferred from Direct Assay more info	PubMed
involved_in sensory perception of sound	ISO Inferred from Sequence Orthology more info
involved_in sulfate transport	IEA Inferred from Electronic Annotation more info
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in lateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in lateral wall of outer hair cell	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: prestin

Names: outer hair cell motor protein; prestin (motor protein)

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.

mRNA and Protein(s)

NM_001289787.1 → NP_001276716.1 prestin isoform 2

See identical proteins and their annotated locations for NP_001276716.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 2, which lacks an internal segment and is shorter, compared to isoform 1.

Source sequence(s)

AC113028, AC125313, AY024359, CJ076475

Consensus CDS

CCDS71547.1

UniProtKB/TrEMBL

D3Z013, Q32MT6

Related

ENSMUSP00000110830.2, ENSMUST00000115176.8

Conserved Domains (3) summary

cd07042
Location:489 → 657

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

cd07043
Location:552 → 646

STAS_anti-anti-sigma_factors; Sulphate Transporter and Anti-Sigma factor antagonist) domain of anti-anti-sigma factors, key regulators of anti-sigma factors by phosphorylation

TIGR00815
Location:66 → 672

sulP; high affinity sulphate transporter 1
NM_001289788.1 → NP_001276717.1 prestin isoform 3

See identical proteins and their annotated locations for NP_001276717.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 3, which is shorter at the N-terminus, compared to isoform 1.

Source sequence(s)

AC113028, AC125313, AY024359, CJ076475

UniProtKB/TrEMBL

Q32MT7

Conserved Domains (3) summary

cd07042
Location:260 → 428

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

cd07043
Location:323 → 417

STAS_anti-anti-sigma_factors; Sulphate Transporter and Anti-Sigma factor antagonist) domain of anti-anti-sigma factors, key regulators of anti-sigma factors by phosphorylation

TIGR00815
Location:5 → 443

sulP; high affinity sulphate transporter 1
NM_030727.5 → NP_109652.3 prestin isoform 1

See identical proteins and their annotated locations for NP_109652.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC113028, AC125313, AY024359, CJ076475

Consensus CDS

CCDS19109.1

UniProtKB/Swiss-Prot

Q80ZB1, Q99NH7

UniProtKB/TrEMBL

D3Z013

Related

ENSMUSP00000030878.2, ENSMUST00000030878.8

Conserved Domains (3) 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

cd07043
Location:589 → 683

STAS_anti-anti-sigma_factors; Sulphate Transporter and Anti-Sigma factor antagonist) domain of anti-anti-sigma factors, key regulators of anti-sigma factors by phosphorylation

TIGR00815
Location:66 → 709

sulP; high affinity sulphate transporter 1

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

22013999..22070602 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006535818.1 → XP_006535881.1 prestin isoform X1

UniProtKB/TrEMBL

D3Z013

Conserved Domains (2) summary

cd07043
Location:527 → 621

STAS_anti-anti-sigma_factors; Sulphate Transporter and Anti-Sigma factor antagonist) domain of anti-anti-sigma factors, key regulators of anti-sigma factors by phosphorylation

TIGR00815
Location:4 → 647

sulP; high affinity sulphate transporter 1