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    Aqp4 aquaporin 4 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 25293, updated on 13-Apr-2024

    Summary

    Official Symbol
    Aqp4provided by RGD
    Official Full Name
    aquaporin 4provided by RGD
    Primary source
    RGD:2143
    See related
    Ensembl:ENSRNOG00000016043 AllianceGenome:RGD:2143
    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]
    Expression
    Biased expression in Brain (RPKM 565.9), Muscle (RPKM 337.5) and 2 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    18p13
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 18 NC_086036.1 (6782389..6799034, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 18 NC_051353.1 (6507903..6524558, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 18 NC_005117.4 (6766009..6782757, complement)

    Chromosome 18 - NC_086036.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102551724 Neighboring gene uncharacterized LOC108348750 Neighboring gene rRNA 2'-O-methyltransferase fibrillarin-like Neighboring gene uncharacterized LOC134482912

    Genomic regions, transcripts, and products

    Expression

    • 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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables water channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables water channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables water channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables water channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in carbon dioxide transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell-cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to estradiol stimulus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cellular response to glucose stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to interleukin-1 IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cellular response to interleukin-6 IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cellular response to type II interferon IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to type II interferon ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cerebrospinal fluid circulation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cerebrospinal fluid circulation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cerebrospinal fluid secretion ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within establishment of localization in cell ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in female pregnancy IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in intracellular water homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in intracellular water homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular water homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in intracellular water homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in multicellular organismal-level water homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within multicellular organismal-level water homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in multicellular organismal-level water homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in multicellular organismal-level water homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cell adhesion molecule production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of interleukin-1 beta production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of interleukin-6 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein homotetramerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein homotetramerization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein homotetramerization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of vascular endothelial growth factor production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within renal water absorption ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to glucocorticoid IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    acts_upstream_of_or_within sensory perception of sound ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in water transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in water transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in water transport IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within water transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in water transport ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in T-tubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in astrocyte end-foot IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in astrocyte end-foot ISO
    Inferred from Sequence Orthology
    more info
     
    located_in basal plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in basolateral plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell projection membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell-cell junction ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in external side of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in external side of plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in extracellular region 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 ISO
    Inferred from Sequence Orthology
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in sarcolemma IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in sarcolemma IEA
    Inferred from Electronic Annotation
    more info
     
    located_in sarcolemma ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    aquaporin-4
    Names
    mercurial-insensitive water channel

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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)
      JAXUCZ010000018
      UniProtKB/TrEMBL
      A0A8L2R6N8
      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)
      JAXUCZ010000018
      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)
      JAXUCZ010000018
      UniProtKB/TrEMBL
      A0A0H2UHZ1
      Related
      ENSRNOP00000050942.3, ENSRNOT00000048109.4
      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, while the longer isoform (M1x) results from UGA stop codon readthrough to the downstream UAA termination codon. This RefSeq represents the longer, C-terminally extended isoform (M1x). 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)
      JAXUCZ010000018
      UniProtKB/TrEMBL
      A0A8L2R6N8
      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, while the longer isoform (M1x) results from UGA stop codon readthrough to the downstream UAA termination codon. This RefSeq represents the shorter isoform (M1).
      Source sequence(s)
      JAXUCZ010000018
      UniProtKB/Swiss-Prot
      A0A0G2K4I1, P47863, Q8CIY8
      UniProtKB/TrEMBL
      A0A8L2R6N8, A6KLU9
      Related
      ENSRNOP00000073052.2, ENSRNOT00000077606.2
      Conserved Domains (1) summary
      pfam00230
      Location:31248
      MIP; Major intrinsic protein

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086036.1 Reference GRCr8

      Range
      6782389..6799034 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039096583.2XP_038952511.1  aquaporin-4 isoform X8

      UniProtKB/TrEMBL
      A0A8I5ZY68
      Conserved Domains (1) summary
      cl00200
      Location:72234
      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. XM_039096581.2XP_038952509.1  aquaporin-4 isoform X3

      UniProtKB/TrEMBL
      A0A8I5ZY68
      Related
      ENSRNOP00000072488.1
      Conserved Domains (1) summary
      pfam00230
      Location:72289
      MIP; Major intrinsic protein
    3. XM_039096587.2XP_038952515.1  aquaporin-4 isoform X10

      UniProtKB/TrEMBL
      A0A8I5ZY68
      Conserved Domains (1) summary
      pfam00230
      Location:9226
      MIP; Major intrinsic protein
    4. XM_063277111.1XP_063133181.1  aquaporin-4 isoform X5

    5. XM_063277112.1XP_063133182.1  aquaporin-4 isoform X6

    6. XM_039096584.2XP_038952512.2  aquaporin-4 isoform X1

    7. XM_063277109.1XP_063133179.1  aquaporin-4 isoform X2

      UniProtKB/TrEMBL
      A0A8L2UNG3
    8. XM_039096582.2XP_038952510.1  aquaporin-4 isoform X7

      Conserved Domains (1) summary
      cl00200
      Location:72272
      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. XM_039096585.2XP_038952513.1  aquaporin-4 isoform X12

      Conserved Domains (1) summary
      cl00200
      Location:72273
      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 ...
    10. XM_063277117.1XP_063133187.1  aquaporin-4 isoform X14

    11. XM_063277116.1XP_063133186.1  aquaporin-4 isoform X13

    12. XM_063277115.1XP_063133185.1  aquaporin-4 isoform X11

    13. XM_063277110.1XP_063133180.1  aquaporin-4 isoform X4

    14. XM_063277114.1XP_063133184.1  aquaporin-4 isoform X9