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    AQP4 aquaporin 4 [ Bos taurus (domestic cattle) ]

    Gene ID: 281008, updated on 29-Jan-2025

    Summary

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    Official Symbol
    AQP4provided by VGNC
    Official Full Name
    aquaporin 4provided by VGNC
    Primary source
    VGNC:VGNC:26047
    See related
    BGD:BT13894; Ensembl:ENSBTAG00000051072
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Bos taurus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
    Also known as
    MIWC; WCH4; AQP-4
    Summary
    This gene encodes a member of the aquaporin family of intrinsic membrane proteins that function as water-selective channels in the plasma membranes of many cells. This protein is the predominant aquaporin found in brain and has an important role in brain water homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]
    Orthologs
    human mouse all
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    Genomic context

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    See AQP4 in Genome Data Viewer
    Location:
    chromosome: 24
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_12 current ARS-UCD2.0 (GCF_002263795.3) 24 NC_037351.1 (30013326..30027871)

    Chromosome 24 - NC_037351.1Genomic Context describing neighboring genes Neighboring gene peroxisomal membrane protein 4 pseudogene Neighboring gene carbohydrate sulfotransferase 9 Neighboring gene uncharacterized LOC112444146 Neighboring gene uncharacterized LOC100849762 Neighboring gene uncharacterized LOC132343766 Neighboring gene potassium channel tetramerization domain containing 1

    Genomic regions, transcripts, and products

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    Genomic Sequence:
    NC_037351.1 Chromosome 24 Reference ARS-UCD2.0 Primary Assembly

    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Dominette sequence data
    • BioProject: PRJNA294306
    • Analysis date: Tue Dec 17 08:57:05 2024

    Bibliography

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    Related articles in PubMed

    1. Molecular cloning of two bovine aquaporin-4 cDNA isoforms and their expression in brain endothelial cells. Sobue K, et al. Biochim Biophys Acta, 1999 Dec 23. PMID 10673041
    2. Evidence of efficient stop codon readthrough in four mammalian genes. Loughran G, et al. Nucleic Acids Res, 2014 Aug. PMID 25013167, Free PMC Article
    3. Misreading of termination codons in eukaryotes by natural nonsense suppressor tRNAs. Beier H, et al. Nucleic Acids Res, 2001 Dec 1. PMID 11726686, Free PMC Article
    4. A whole-genome assembly of the domestic cow, Bos taurus. Zimin AV, et al. Genome Biol, 2009. PMID 19393038, Free PMC Article
    5. Manual GO annotation of predictive protein signatures: the InterPro approach to GO curation. Burge S, et al. Database (Oxford), 2012. PMID 22301074, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RefSeq

    Function Evidence Code Pubs
    enables water channel activity IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    involved_in water transport IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in basolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    aquaporin-4
    Names
    mercurial-insensitive water channel

    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_001317792.2 → NP_001304721.1  aquaporin-4 isoform Ax

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as bAQP4-A) represents the predominant transcript and encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (A) results from translation termination at the upstream UGA stop codon, while the longer isoform (Ax) results from UGA stop codon readthrough to the downstream UAA termination codon. This RefSeq represents the longer, C-terminally extended isoform (Ax). As the UGA stop codon has been reported to specify several alternative amino acids (tryptophan, cysteine, arginine and serine), its location in the longer isoform is denoted by an 'X'.
      Source sequence(s)
      AB015947, DV840623, EV702155, NKLS02000024
      Related
      ENSBTAP00070029429.1, ENSBTAT00070049520.1
      Conserved Domains (1) summary
      pfam00230
      Location:31 → 248
      MIP; Major intrinsic protein

    2. NM_001317794.2 → NP_001304723.1  aquaporin-4 isoform B

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as bAQP4-B) contains an alternate 5' terminal exon, which causes translation initiation from an in-frame, downstream start codon, compared to variant 1. The resulting isoform (B) has a shorter N-terminus compared to isoform A.
      Source sequence(s)
      AB028642, DV840623, EH131563, EV702155, NKLS02000024
      Related
      ENSBTAP00070029453.1, ENSBTAT00070049555.1
      Conserved Domains (1) summary
      pfam00230
      Location:9 → 226
      MIP; Major intrinsic protein

    3. NM_181003.4 → NP_851346.1  aquaporin-4 isoform A

      See identical proteins and their annotated locations for NP_851346.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as bAQP4-A) represents the predominant transcript and encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (A) results from translation termination at the upstream UGA stop codon, while the longer isoform (Ax) results from UGA stop codon readthrough to the downstream UAA termination codon. This RefSeq represents the shorter isoform (A).
      Source sequence(s)
      AB015947, DV840623, EV702155, NKLS02000024
      UniProtKB/Swiss-Prot
      O77750, Q17QE1
      Related
      ENSBTAP00070029445.1, ENSBTAT00070049543.1
      Conserved Domains (1) summary
      pfam00230
      Location:31 → 248
      MIP; Major intrinsic protein

    RefSeqs of Annotated Genomes: GCF_002263795.3-RS_2024_12

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

    Reference ARS-UCD2.0 Primary Assembly

    Genomic

    1. NC_037351.1 Reference ARS-UCD2.0 Primary Assembly

      Range
      30013326..30027871
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O77750.3 GenPept UniProtKB/Swiss-Prot:O77750

    Gene LinkOut

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