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    Aqp4 aquaporin 4 [ Mus musculus (house mouse) ]

    Gene ID: 11829, updated on 26-Jun-2016
    Official Symbol
    Aqp4provided by MGI
    Official Full Name
    aquaporin 4provided by MGI
    Primary source
    MGI:MGI:107387
    See related
    Ensembl:ENSMUSG00000024411
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    WCH4
    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 2015]
    Orthologs
    Location:
    18 A1; 18 8.74 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 18 NC_000084.6 (15389394..15410982, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 18 NC_000084.5 (15547903..15562193, complement)

    Chromosome 18 - NC_000084.6Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA A830021F12 gene Neighboring gene predicted gene, 30230 Neighboring gene fibrillarin pseudogene Neighboring gene carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 Neighboring gene predicted gene, 30452

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    glycerol channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    porin activity ISO
    Inferred from Sequence Orthology
    more info
     
    transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    water channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    water channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    carbon dioxide transport ISO
    Inferred from Sequence Orthology
    more info
     
    cellular response to glucose stimulus ISO
    Inferred from Sequence Orthology
    more info
     
    cellular response to interferon-gamma ISO
    Inferred from Sequence Orthology
    more info
     
    cellular water homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    negative regulation of cell adhesion molecule production ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of interleukin-1 beta production ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of interleukin-6 production ISO
    Inferred from Sequence Orthology
    more info
     
    protein homooligomerization ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of vascular endothelial growth factor production ISO
    Inferred from Sequence Orthology
    more info
     
    renal water absorption IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    renal water absorption IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transport IEA
    Inferred from Electronic Annotation
    more info
     
    water homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    water homeostasis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    water transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    water transport ISO
    Inferred from Sequence Orthology
    more info
     
    water transport TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    T-tubule ISO
    Inferred from Sequence Orthology
    more info
     
    basal plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    basolateral plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    cell projection membrane ISO
    Inferred from Sequence Orthology
    more info
     
    cell-cell junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    external side of plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    integral component of membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    integral component of plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    membrane ISO
    Inferred from Sequence Orthology
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    protein complex ISO
    Inferred from Sequence Orthology
    more info
     
    sarcolemma ISO
    Inferred from Sequence Orthology
    more info
     
    Preferred Names
    aquaporin-4
    Names
    mercurial-insensitive water channel

    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_001308641.1NP_001295570.1  aquaporin-4 isoform M23

      See identical proteins and their annotated locations for NP_001295570.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3, also known as a/1) contains an alternate 5' terminal exon, which causes translation initiation from an in-frame, downstream start codon, compared to variant 1. The resulting isoform (M23, also known as M23A) has a shorter N-terminus compared to isoform 1. Variants 2-8 encode the same isoform.
      Source sequence(s)
      AC133525
      UniProtKB/Swiss-Prot
      P55088
      UniProtKB/TrEMBL
      Q50H70
      Conserved Domains (1) summary
      cd00333
      Location:14229
      MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...
    2. NM_001308642.1NP_001295571.1  aquaporin-4 isoform M23

      See identical proteins and their annotated locations for NP_001295571.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4, also known as ad/1) contains alternate exons at the 5' end, which cause translation initiation from an in-frame, downstream start codon, compared to variant 1. The resulting isoform (M23, also known as M23A) has a shorter N-terminus compared to isoform 1. Variants 2-8 encode the same isoform.
      Source sequence(s)
      AC133525
      UniProtKB/Swiss-Prot
      P55088
      UniProtKB/TrEMBL
      Q50H70
      Conserved Domains (1) summary
      cd00333
      Location:14229
      MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...
    3. NM_001308643.1NP_001295572.1  aquaporin-4 isoform M23

      See identical proteins and their annotated locations for NP_001295572.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5, also known as ab/1) contains alternate exons at the 5' end, which cause translation initiation from an in-frame, downstream start codon, compared to variant 1. The resulting isoform (M23, also known as M23A) has a shorter N-terminus compared to isoform 1. Variants 2-8 encode the same isoform.
      Source sequence(s)
      AC133525
      UniProtKB/Swiss-Prot
      P55088
      UniProtKB/TrEMBL
      Q50H70
      Conserved Domains (1) summary
      cd00333
      Location:14229
      MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...
    4. NM_001308644.1NP_001295573.1  aquaporin-4 isoform M23

      See identical proteins and their annotated locations for NP_001295573.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6, also known as ac/1) contains alternate exons at the 5' end, which cause translation initiation from an in-frame, downstream start codon, compared to variant 1. The resulting isoform (M23, also known as M23A) has a shorter N-terminus compared to isoform 1. Variants 2-8 encode the same isoform.
      Source sequence(s)
      AC133525
      UniProtKB/Swiss-Prot
      P55088
      UniProtKB/TrEMBL
      Q50H70
      Conserved Domains (1) summary
      cd00333
      Location:14229
      MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...
    5. NM_001308645.1NP_001295574.1  aquaporin-4 isoform M23

      See identical proteins and their annotated locations for NP_001295574.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7, also known as abc/1) contains alternate exons at the 5' end, which cause translation initiation from an in-frame, downstream start codon, compared to variant 1. The resulting isoform (M23, also known as M23A) has a shorter N-terminus compared to isoform 1. Variants 2-8 encode the same isoform.
      Source sequence(s)
      AC133525
      UniProtKB/Swiss-Prot
      P55088
      UniProtKB/TrEMBL
      Q50H70
      Conserved Domains (1) summary
      cd00333
      Location:14229
      MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...
    6. NM_001308646.1NP_001295575.1  aquaporin-4 isoform M23

      See identical proteins and their annotated locations for NP_001295575.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8, also known as abcd/1) contains alternate exons at the 5' end, which cause translation initiation from an in-frame, downstream start codon, compared to variant 1. The resulting isoform (M23, also known as M23A) has a shorter N-terminus compared to isoform 1. Variants 2-8 encode the same isoform.
      Source sequence(s)
      AC133525
      UniProtKB/Swiss-Prot
      P55088
      UniProtKB/TrEMBL
      Q50H70
      Conserved Domains (1) summary
      cd00333
      Location:14229
      MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...
    7. NM_001308647.2NP_001295576.1  aquaporin-4 isoform M23

      See identical proteins and their annotated locations for NP_001295576.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as AQP4.M23X or mMIWC1) contains an alternate 5' terminal exon, which causes translation initiation from an in-frame, downstream start codon, compared to variant 1. The resulting isoform (M23, also known as M23X) has a shorter N-terminus compared to isoform 1. Variants 2-8 encode the same isoform.
      Source sequence(s)
      AC133525, AF469169, AK045357, AK079614, BB750519, BX633380, U88623
      UniProtKB/Swiss-Prot
      P55088
      UniProtKB/TrEMBL
      Q50H70, Q8BR89
      Conserved Domains (1) summary
      cd00333
      Location:14229
      MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...
    8. NM_001317729.1NP_001304658.1  aquaporin-4 isoform M1x

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as AQP4.M1 or mMIWC2) represents the predominant transcript and encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (M1) results from translation termination at the upstream UGA stop codon (nt 1097-1099), while the longer isoform (M1x) results from UGA stop codon readthrough to the downstream UAA termination codon (nt 1184-1186). This RefSeq represents the longer, C-terminally extended isoform. 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)
      AC133525, AF469168, AK045357, AK079614, BB750519, BX633380, U88623
      UniProtKB/Swiss-Prot
      P55088
      UniProtKB/TrEMBL
      Q8BR89
      Conserved Domains (1) summary
      cd00333
      Location:36251
      MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...
    9. NM_009700.3NP_033830.2  aquaporin-4 isoform M1

      See identical proteins and their annotated locations for NP_033830.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as AQP4.M1 or mMIWC2) represents the predominant transcript and encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (M1) results from translation termination at the upstream UGA stop codon (nt 1097-1099), while the longer isoform (M1x) results from UGA stop codon readthrough to the downstream UAA termination codon (nt 1184-1186). This RefSeq represents the shorter isoform.
      Source sequence(s)
      AC133525, AF469168, AK045357, AK079614, BB750519, BX633380, U88623
      Consensus CDS
      CCDS29073.1
      UniProtKB/Swiss-Prot
      P55088
      UniProtKB/TrEMBL
      A0A0R4J0Z3, Q8BR89
      Related
      ENSMUSP00000078088, ENSMUST00000079081
      Conserved Domains (1) summary
      cd00333
      Location:36251
      MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106 details...

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000084.6 Reference GRCm38.p4 C57BL/6J

      Range
      15389394..15410982 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)