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    Aqp4 aquaporin 4 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 25293, updated on 9-Jul-2017
    Official Symbol
    Aqp4provided by RGD
    Official Full Name
    aquaporin 4provided by RGD
    Primary source
    RGD:2143
    See related
    Ensembl:ENSRNOG00000016043
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    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 2015]
    Orthologs
    Location:
    18p13
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    106 current Rnor_6.0 (GCF_000001895.5) 18 NC_005117.4 (6766009..6782757, complement)
    104 previous assembly Rnor_5.0 (GCF_000001895.4) 18 NC_005117.3 (6720759..6737703, complement)

    Chromosome 18 - NC_005117.4Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC108348749 Neighboring gene uncharacterized LOC102551724 Neighboring gene uncharacterized LOC108348750 Neighboring gene similar to fibrillarin Neighboring gene uncharacterized LOC102551834

    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    porin activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    porin activity IEA
    Inferred from Electronic Annotation
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to estradiol stimulus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    cellular response to glucose stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to interferon-gamma IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to interferon-gamma ISO
    Inferred from Sequence Orthology
    more info
     
    cellular response to interleukin-1 IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    cellular response to interleukin-6 IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    female pregnancy IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    hyperosmotic salinity response IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    multicellular organismal water homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    multicellular organismal water homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of cell adhesion molecule production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of interleukin-1 beta production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of interleukin-6 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of vascular endothelial growth factor production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    renal water absorption ISO
    Inferred from Sequence Orthology
    more info
     
    response to glucocorticoid IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    response to radiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    sensory perception of sound ISO
    Inferred from Sequence Orthology
    more info
     
    transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    transport IEA
    Inferred from Electronic Annotation
    more info
     
    water homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    water transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    water transport ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    T-tubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    basal plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    basolateral plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    cell projection membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell-cell junction ISO
    Inferred from Sequence Orthology
    more info
     
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    external side of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    external side of plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    pore complex IEA
    Inferred from Electronic Annotation
    more info
     
    protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sarcolemma IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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_001142366.2NP_001135838.1  aquaporin-4 isoform M23

      See identical proteins and their annotated locations for NP_001135838.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as AQP4c) 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) has a shorter N-terminus compared to isoform M1.
      Source sequence(s)
      AABR07031271
      UniProtKB/TrEMBL
      A0A0G2K4I1
      Related
      ENSRNOP00000073052.1, ENSRNOT00000077606.1
      Conserved Domains (1) summary
      pfam00230
      Location:9226
      MIP; Major intrinsic protein
    2. NM_001270558.2NP_001257487.1  aquaporin-4 isoform 3

      See identical proteins and their annotated locations for NP_001257487.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3, also known as AQP4b) lacks an in-frame coding exon compared to variant 1. The resulting isoform (3) is shorter, missing an internal protein segment compared to isoform M1.
      Source sequence(s)
      AABR07031271
      UniProtKB/Swiss-Prot
      P47863
      Conserved Domains (1) summary
      cl00200
      Location:31193
      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_001270559.2NP_001257488.1  aquaporin-4 isoform 4

      See identical proteins and their annotated locations for NP_001257488.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4, also known as AQP4d) contains an alternate 5' terminal exon and lacks an in-frame coding exon compared to variant 1. These changes result in translation initiation from an in-frame, downstream start codon, and an isoform (4) with a shorter N-terminus and missing an internal protein segment compared to isoform M1.
      Source sequence(s)
      AABR07031271
      UniProtKB/TrEMBL
      A0A0H2UHZ1
      Related
      ENSRNOP00000050942.3, ENSRNOT00000048109.3
      Conserved Domains (1) summary
      cl00200
      Location:9171
      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_001317749.1NP_001304678.1  aquaporin-4 isoform M1x

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as AQP4a) 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 1036-1038), while the longer isoform (M1x) results from UGA stop codon readthrough to the downstream UAA termination codon (nt 1123-1125). 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)
      AABR07031271
      Conserved Domains (1) summary
      pfam00230
      Location:31248
      MIP; Major intrinsic protein
    5. NM_012825.4NP_036957.1  aquaporin-4 isoform M1

      See identical proteins and their annotated locations for NP_036957.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as AQP4a) 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 1036-1038), while the longer isoform (M1x) results from UGA stop codon readthrough to the downstream UAA termination codon (nt 1123-1125). This RefSeq represents the shorter isoform.
      Source sequence(s)
      AABR07031271
      UniProtKB/Swiss-Prot
      P47863
      Related
      ENSRNOP00000063720.1, ENSRNOT00000068150.3
      Conserved Domains (1) summary
      pfam00230
      Location:31248
      MIP; Major intrinsic protein

    RefSeqs of Annotated Genomes: Rattus norvegicus Annotation Release 106 details...Open this link in a new tab

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

    Reference Rnor_6.0 Primary Assembly

    Genomic

    1. NC_005117.4 Reference Rnor_6.0 Primary Assembly

      Range
      6766009..6782757 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017600857.1XP_017456346.1  aquaporin-4 isoform X1

      UniProtKB/TrEMBL
      A0A0G2K4I1
      Conserved Domains (1) summary
      pfam00230
      Location:9226
      MIP; Major intrinsic protein

    Alternate Rn_Celera

    Genomic

    1. AC_000086.1 Alternate Rn_Celera

      Range
      6530014..6546446 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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