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    Aqp4 aquaporin 4 [ Mus musculus (house mouse) ]

    Gene ID: 11829, updated on 17-Dec-2024

    Summary

    Official Symbol
    Aqp4provided by MGI
    Official Full Name
    aquaporin 4provided by MGI
    Primary source
    MGI:MGI:107387
    See related
    Ensembl:ENSMUSG00000024411 AllianceGenome:MGI:107387
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; 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]
    Expression
    Biased expression in cerebellum adult (RPKM 26.4), frontal lobe adult (RPKM 12.8) and 4 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Aqp4 in Genome Data Viewer
    Location:
    18 A1; 18 8.74 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (15522451..15544039, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (15389394..15410982, complement)

    Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr18:15490295-15490483 Neighboring gene STARR-seq mESC enhancer starr_43886 Neighboring gene RIKEN cDNA A830021F12 gene Neighboring gene predicted gene, 30230 Neighboring gene predicted gene, 57651 Neighboring gene fibrillarin pseudogene Neighboring gene STARR-seq mESC enhancer starr_43888 Neighboring gene carbohydrate sulfotransferase 9 Neighboring gene STARR-seq mESC enhancer starr_43889 Neighboring gene predicted gene, 30452

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables identical protein binding  
    enables protein binding PubMed 
    enables water channel activity  
    enables water channel activity PubMed 
    enables water channel activity  
    Items 1 - 25 of 26
    Process Evidence Code Pubs
    involved_in carbon dioxide transport  
    involved_in cell-cell adhesion  
    involved_in cellular response to glucose stimulus  
    involved_in cellular response to type II interferon  
    involved_in cerebrospinal fluid circulation PubMed 
    involved_in cerebrospinal fluid secretion PubMed 
    acts_upstream_of_or_within establishment of localization in cell PubMed 
    involved_in intracellular water homeostasis PubMed 
    involved_in intracellular water homeostasis  
    involved_in multicellular organismal-level water homeostasis PubMed 
    acts_upstream_of_or_within multicellular organismal-level water homeostasis PubMed 
    involved_in negative regulation of cell adhesion molecule production  
    involved_in negative regulation of interleukin-1 beta production  
    involved_in negative regulation of interleukin-6 production  
    involved_in protein homotetramerization  
    involved_in protein homotetramerization  
    involved_in regulation of vascular endothelial growth factor production  
    acts_upstream_of_or_within renal water absorption PubMed 
    acts_upstream_of_or_within renal water absorption PubMed 
    acts_upstream_of_or_within sensory perception of sound PubMed 
    involved_in transmembrane transport  
    involved_in water transport  
    involved_in water transport PubMed 
    acts_upstream_of_or_within water transport PubMed 
    involved_in water transport  
    acts_upstream_of_or_within water transport PubMed 
    Items 1 - 25 of 26
    Items 1 - 20 of 22
    Component Evidence Code Pubs
    located_in T-tubule  
    located_in astrocyte end-foot PubMed 
    located_in astrocyte end-foot  
    located_in basal plasma membrane  
    is_active_in basolateral plasma membrane  
    located_in basolateral plasma membrane PubMed 
    located_in basolateral plasma membrane  
    located_in cell projection membrane  
    located_in cell-cell junction PubMed 
    located_in cytoplasm PubMed 
    located_in cytoplasm  
    located_in endosome membrane  
    located_in external side of plasma membrane  
    located_in extracellular region  
    located_in membrane PubMed 
    is_active_in plasma membrane  
    located_in plasma membrane PubMed 
    located_in plasma membrane  
    located_in plasma membrane PubMed 
    part_of protein-containing complex  
    located_in sarcolemma PubMed 
    located_in sarcolemma  
    Items 1 - 20 of 22

    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_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
      Consensus CDS
      CCDS89196.1
      UniProtKB/Swiss-Prot
      P55088, P97818, Q4FJP1, Q61131, Q61132, Q8VHE4, Q8VHE5, Q9EQI3
      UniProtKB/TrEMBL
      Q50H70
      Related
      ENSMUSP00000159185.2, ENSMUST00000238946.2
      Conserved Domains (1) summary
      pfam00230
      Location:9226
      MIP; Major intrinsic protein
    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
      Consensus CDS
      CCDS89196.1
      UniProtKB/Swiss-Prot
      P55088, P97818, Q4FJP1, Q61131, Q61132, Q8VHE4, Q8VHE5, Q9EQI3
      UniProtKB/TrEMBL
      Q50H70
      Related
      ENSMUSP00000157337.2, ENSMUST00000234053.2
      Conserved Domains (1) summary
      pfam00230
      Location:9226
      MIP; Major intrinsic protein
    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
      Consensus CDS
      CCDS89196.1
      UniProtKB/Swiss-Prot
      P55088, P97818, Q4FJP1, Q61131, Q61132, Q8VHE4, Q8VHE5, Q9EQI3
      UniProtKB/TrEMBL
      Q50H70
      Related
      ENSMUSP00000157152.2, ENSMUST00000234473.2
      Conserved Domains (1) summary
      pfam00230
      Location:9226
      MIP; Major intrinsic protein
    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
      Consensus CDS
      CCDS89196.1
      UniProtKB/Swiss-Prot
      P55088, P97818, Q4FJP1, Q61131, Q61132, Q8VHE4, Q8VHE5, Q9EQI3
      UniProtKB/TrEMBL
      Q50H70
      Related
      ENSMUSP00000157239.2, ENSMUST00000234518.2
      Conserved Domains (1) summary
      pfam00230
      Location:9226
      MIP; Major intrinsic protein
    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
      Consensus CDS
      CCDS89196.1
      UniProtKB/Swiss-Prot
      P55088, P97818, Q4FJP1, Q61131, Q61132, Q8VHE4, Q8VHE5, Q9EQI3
      UniProtKB/TrEMBL
      Q50H70
      Related
      ENSMUSP00000157347.2, ENSMUST00000234391.2
      Conserved Domains (1) summary
      pfam00230
      Location:9226
      MIP; Major intrinsic protein
    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
      Consensus CDS
      CCDS89196.1
      UniProtKB/Swiss-Prot
      P55088, P97818, Q4FJP1, Q61131, Q61132, Q8VHE4, Q8VHE5, Q9EQI3
      UniProtKB/TrEMBL
      Q50H70
      Related
      ENSMUSP00000157000.2, ENSMUST00000235044.2
      Conserved Domains (1) summary
      pfam00230
      Location:9226
      MIP; Major intrinsic protein
    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
      Consensus CDS
      CCDS89196.1
      UniProtKB/Swiss-Prot
      P55088, P97818, Q4FJP1, Q61131, Q61132, Q8VHE4, Q8VHE5, Q9EQI3
      UniProtKB/TrEMBL
      Q50H70
      Related
      ENSMUSP00000157060.2, ENSMUST00000234643.2
      Conserved Domains (1) summary
      pfam00230
      Location:9226
      MIP; Major intrinsic protein
    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, 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)
      AC133525, AF469168, AK045357, AK079614, BB750519, BX633380, U88623
      UniProtKB/TrEMBL
      A0A5F8MQ17
      Conserved Domains (1) summary
      pfam00230
      Location:31248
      MIP; Major intrinsic protein
    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, 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)
      AC133525, AF469168, AK045357, AK079614, BB750519, BX633380, U88623
      Consensus CDS
      CCDS29073.1
      UniProtKB/Swiss-Prot
      P55088, P97818, Q4FJP1, Q61131, Q61132, Q8VHE4, Q8VHE5, Q9EQI3
      UniProtKB/TrEMBL
      A0A0R4J0Z3
      Related
      ENSMUSP00000078088.7, ENSMUST00000079081.8
      Conserved Domains (1) summary
      pfam00230
      Location:31248
      MIP; Major intrinsic protein

    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_000084.7 Reference GRCm39 C57BL/6J

      Range
      15522451..15544039 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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