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    Slc4a5 solute carrier family 4, sodium bicarbonate cotransporter, member 5 [ Mus musculus (house mouse) ]

    Gene ID: 232156, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Slc4a5provided by MGI
    Official Full Name
    solute carrier family 4, sodium bicarbonate cotransporter, member 5provided by MGI
    Primary source
    MGI:MGI:2443220
    See related
    Ensembl:ENSMUSG00000068323 AllianceGenome:MGI:2443220
    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
    C330006M16; C330016K18Rik
    Summary
    Predicted to enable sodium:bicarbonate symporter activity. Acts upstream of or within several processes, including cerebrospinal fluid secretion; mitochondrion distribution; and retina development in camera-type eye. Predicted to be located in apical plasma membrane. Predicted to be active in plasma membrane. Is expressed in several structures, including nervous system; retina; and thyroid gland. Orthologous to human SLC4A5 (solute carrier family 4 member 5). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in lung adult (RPKM 8.8), duodenum adult (RPKM 3.6) and 10 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    6 C3; 6 35.94 cM
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (83184561..83281927)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (83207580..83304945)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 1700003E16 gene Neighboring gene STARR-positive B cell enhancer ABC_E6447 Neighboring gene STARR-seq mESC enhancer starr_16458 Neighboring gene predicted gene 15624 Neighboring gene dynactin 1 Neighboring gene STARR-seq mESC enhancer starr_16459 Neighboring gene STARR-positive B cell enhancer ABC_E4836 Neighboring gene STARR-positive B cell enhancer ABC_E1323 Neighboring gene methylenetetrahydrofolate dehydrogenase (NAD+ dependent), methenyltetrahydrofolate cyclohydrolase Neighboring gene STARR-positive B cell enhancer ABC_E6448 Neighboring gene STARR-seq mESC enhancer starr_16463 Neighboring gene MOB kinase activator 1A

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. A Splicing Mutation in Slc4a5 Results in Retinal Detachment and Retinal Pigment Epithelium Dysfunction. Collin GB, et al. Int J Mol Sci, 2022 Feb 17. PMID 35216333, Free PMC Article
    2. NBCe2 (Slc4a5) Is Expressed in the Renal Connecting Tubules and Cortical Collecting Ducts and Mediates Base Extrusion. Barbuskaite D, et al. Front Physiol, 2020. PMID 32547422, Free PMC Article
    3. The choroid plexus sodium-bicarbonate cotransporter NBCe2 regulates mouse cerebrospinal fluid pH. Christensen HL, et al. J Physiol, 2018 Oct. PMID 29956324, Free PMC Article
    4. Deficient acid handling with distal RTA in the NBCe2 knockout mouse. Wen D, et al. Am J Physiol Renal Physiol, 2015 Sep 15. PMID 26109087, Free PMC Article
    5. NBCe2 exhibits a 3 HCO3(-):1 Na+ stoichiometry in mouse choroid plexus epithelial cells. Millar ID, et al. Biochem Biophys Res Commun, 2008 Sep 5. PMID 18588858

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A Splicing Mutation in Slc4a5 Results in Retinal Detachment and Retinal Pigment Epithelium Dysfunction.
      Title: A Splicing Mutation in Slc4a5 Results in Retinal Detachment and Retinal Pigment Epithelium Dysfunction.
    2. Study shows that the HCO3 (-) transporter NBCe2 in the choroid plexus of the blood-cerebrospinal fluid barrier is absolutely necessary for normalizing cerebrospinal fluid pH during high levels of CO2 .
      Title: The choroid plexus sodium-bicarbonate cotransporter NBCe2 regulates mouse cerebrospinal fluid pH.
    3. NBCe2 has an important role to regulate urinary acidification and the transport of K(+) and Ca(2+) in the distal nephron
      Title: Deficient acid handling with distal RTA in the NBCe2 knockout mouse.
    4. In the absence of Na(+)-HCO3 (-) cotransporter electrogenic 2 in the late distal tubule, acid-loaded mice exhibit disinhibition of ENaC-mediated Na(+) reabsorption, which results in Na(+) retention, K(+) wasting, and hypertension.
      Title: Increased Epithelial Sodium Channel Activity Contributes to Hypertension Caused by Na+-HCO3- Cotransporter Electrogenic 2 Deficiency.
    5. study has shown that SLC4A5 is involved in the regulation of the acid-base balance as well as in the regulation of blood pressure; concludes that the impairment of the function of SLC4A5 favors development of a hypertensive state
      Title: Targeted mutation of SLC4A5 induces arterial hypertension and renal metabolic acidosis.
    6. targeted disruption of the Slc4a5 gene encoding the electrogenic sodium bicarbonate cotransporter NBCe2 results in significant remodeling of choroid plexus epithelial cells, including abnormal mitochondrial distribution.
      Title: Severe neurologic impairment in mice with targeted disruption of the electrogenic sodium bicarbonate cotransporter NBCe2 (Slc4a5 gene).
    7. The NBCe2 mediates the efflux of HCO3(-) and Na(+) from the cell into the cerebrospinal fluid at the apical membrane of the choroid plexus.
      Title: NBCe2 exhibits a 3 HCO3(-):1 Na+ stoichiometry in mouse choroid plexus epithelial cells.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1) 
    • Chemically induced (ENU) (1)  1 citation
    • Targeted (2)  1 citation
    • Endonuclease-mediated (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables antiporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables monoatomic anion transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables sodium:bicarbonate symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables sodium:bicarbonate symporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables sodium:bicarbonate symporter activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables solute:inorganic anion antiporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in bicarbonate transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within cerebrospinal fluid secretion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within epithelial cell development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within mitochondrion distribution IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in monoatomic anion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within monoatomic ion transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of intracellular pH IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within regulation of systemic arterial blood pressure IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in renal system process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within renal system process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within retina development in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within sodium ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in apical plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in basolateral plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane 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
    electrogenic sodium bicarbonate cotransporter 4
    Names
    anion exchange protein
    solute carrier family 4 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.

    mRNA and Protein(s)

    1. NM_001166067.1 → NP_001159539.1  electrogenic sodium bicarbonate cotransporter 4

      Status: VALIDATED

      Source sequence(s)
      AC160400, BB398090, BQ175480, BY732178, CA526642, CF725373, CK626530, CK626745, CO424019, CO428205, CO431509, CX562762
      Consensus CDS
      CCDS51819.1
      UniProtKB/TrEMBL
      D3YVG0, D3YX36
      Related
      ENSMUSP00000041007.8, ENSMUST00000039212.8
      Conserved Domains (3) summary
      TIGR00834
      Location:7 → 931
      ae; anion exchange protein
      pfam00955
      Location:365 → 884
      HCO3_cotransp; HCO3- transporter family
      pfam07565
      Location:25 → 292
      Band_3_cyto; Band 3 cytoplasmic domain

    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

    1. NC_000072.7 Reference GRCm39 C57BL/6J

      Range
      83184561..83281927
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006505964.3 → XP_006506027.1  electrogenic sodium bicarbonate cotransporter 4 isoform X2

      UniProtKB/Swiss-Prot
      E9Q3M5
      Conserved Domains (1) summary
      cl26877
      Location:126 → 1094
      Band_3_cyto; Band 3 cytoplasmic domain

    2. XM_006505965.3 → XP_006506028.1  electrogenic sodium bicarbonate cotransporter 4 isoform X3

      UniProtKB/Swiss-Prot
      E9Q3M5
      Conserved Domains (1) summary
      cl26877
      Location:126 → 1059
      Band_3_cyto; Band 3 cytoplasmic domain

    3. XM_006505967.3 → XP_006506030.1  electrogenic sodium bicarbonate cotransporter 4 isoform X5

      UniProtKB/Swiss-Prot
      E9Q3M5
      Related
      ENSMUSP00000109533.2, ENSMUST00000113900.8
      Conserved Domains (1) summary
      cl26877
      Location:126 → 1059
      Band_3_cyto; Band 3 cytoplasmic domain

    4. XM_006505963.4 → XP_006506026.1  electrogenic sodium bicarbonate cotransporter 4 isoform X1

      UniProtKB/Swiss-Prot
      E9Q3M5
      Conserved Domains (1) summary
      cl26877
      Location:113 → 1174
      Band_3_cyto; Band 3 cytoplasmic domain

    5. XM_006505966.2 → XP_006506029.1  electrogenic sodium bicarbonate cotransporter 4 isoform X4

      UniProtKB/Swiss-Prot
      E9Q3M5
      Conserved Domains (1) summary
      cl26877
      Location:7 → 1059
      Band_3_cyto; Band 3 cytoplasmic domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    E9Q3M5.1 GenPept UniProtKB/Swiss-Prot:E9Q3M5

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