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    AQP4 aquaporin 4 [ Homo sapiens (human) ]

    Gene ID: 361, updated on 22-Apr-2017
    Official Symbol
    AQP4provided by HGNC
    Official Full Name
    aquaporin 4provided by HGNC
    Primary source
    HGNC:HGNC:637
    See related
    Ensembl:ENSG00000171885 MIM:600308; Vega:OTTHUMG00000131955
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MIWC; 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:
    18q11.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 18 NC_000018.10 (26852038..26865844, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (24432007..24445735, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372035 Neighboring gene ubiquitin fusion degradation 1 like (yeast) pseudogene Neighboring gene AQP4 antisense RNA 1 Neighboring gene carbohydrate sulfotransferase 9 Neighboring gene ATPase H+ transporting V1 subunit E1 pseudogene 2 Neighboring gene uncharacterized LOC105372036

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Aquaporin-mediated transport, organism-specific biosystem (from REACTOME)
      Aquaporin-mediated transport, organism-specific biosystemAquaporins (AQP's) are six-pass transmembrane proteins that form channels in membranes. Each monomer contains a central channel formed in part by two asparagine-proline-alanine motifs (NPA boxes) tha...
    • Bile secretion, organism-specific biosystem (from KEGG)
      Bile secretion, organism-specific biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
    • Bile secretion, conserved biosystem (from KEGG)
      Bile secretion, conserved biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
    • Passive transport by Aquaporins, organism-specific biosystem (from REACTOME)
      Passive transport by Aquaporins, organism-specific biosystemAquaporins (AQP's) are six-pass transmembrane proteins that form channels in membranes. Each monomer contains a central channel formed in part by two asparagine-proline-alanine motifs (NPA boxes) tha...
    • Spinal Cord Injury, organism-specific biosystem (from WikiPathways)
      Spinal Cord Injury, organism-specific biosystemThis pathway provides an overview of cell types, therapeutic targets, drugs, new proposed targets and pathways implicated in spinal cord injury. Spinal cord injury is a complex multistep process that...
    • Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
      Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    • Vasopressin regulates renal water homeostasis via Aquaporins, organism-specific biosystem (from REACTOME)
      Vasopressin regulates renal water homeostasis via Aquaporins, organism-specific biosystemIn the kidney water and solutes are passed out of the bloodstream and into the proximal tubule via the slit-like structure formed by nephrin in the glomerulus. Water is reabsorbed from the filtrate d...
    • Vasopressin-regulated water reabsorption, organism-specific biosystem (from KEGG)
      Vasopressin-regulated water reabsorption, organism-specific biosystemIn the kidney, the antidiuretic hormone vasopressin (AVP) is a critical regulator of water homeostasis by controlling the water movement from lumen to the interstitium for water reabsorption and adju...
    • Vasopressin-regulated water reabsorption, conserved biosystem (from KEGG)
      Vasopressin-regulated water reabsorption, conserved biosystemIn the kidney, the antidiuretic hormone vasopressin (AVP) is a critical regulator of water homeostasis by controlling the water movement from lumen to the interstitium for water reabsorption and adju...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC22454

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    water channel activity EXP
    Inferred from Experiment
    more info
    PubMed 
    water channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    water transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular response to interferon-gamma IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    multicellular organismal water homeostasis IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    renal water homeostasis TAS
    Traceable Author Statement
    more info
     
    transport TAS
    Traceable Author Statement
    more info
    PubMed 
    water transport TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    basolateral plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    aquaporin-4
    Names
    aquaporin type4
    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.

    Genomic

    1. NG_029560.1 RefSeqGene

      Range
      4909..18715
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001317384.1NP_001304313.1  aquaporin-4 isoform M1x

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as hMIWC2) 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 1125-1127), while the longer isoform (M1x) results from UGA stop codon readthrough to the downstream UAA termination codon (nt 1212-1214). 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)
      AC018371, BC030745, BU687682, HQ901095
      UniProtKB/TrEMBL
      F1DSG4
      Conserved Domains (1) summary
      pfam00230
      Location:31248
      MIP; Major intrinsic protein
    2. NM_001317387.1NP_001304316.1  aquaporin-4 isoform delta4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame coding exon compared to variant 1, and encodes a shorter isoform (delta4) missing an internal protein segment compared to isoform M1. This isoform exhibits no water transport properties, downregulates the expression and water channel activity of the full-length isoform; thus, appears to function as a regulator of water permeability (PMID:24356448).
      Source sequence(s)
      AC018371, BC030745, BU687682, HQ901095, KF055862
      Consensus CDS
      CCDS82244.1
      UniProtKB/TrEMBL
      F1DSG4, V9PBN7
      Related
      ENSP00000484446.1, ENST00000622234.4
      Conserved Domains (1) summary
      cl00200
      Location:31221
      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_001650.5NP_001641.1  aquaporin-4 isoform M1

      See identical proteins and their annotated locations for NP_001641.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as hMIWC2) 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 1125-1127), while the longer isoform (M1x) results from UGA stop codon readthrough to the downstream UAA termination codon (nt 1212-1214). This RefSeq represents the shorter isoform.
      Source sequence(s)
      AC018371, BC030745, BU687682, HQ901095
      Consensus CDS
      CCDS11889.1
      UniProtKB/Swiss-Prot
      P55087
      UniProtKB/TrEMBL
      F1DSG4
      Related
      ENSP00000372654.4, OTTHUMP00000162792, ENST00000383168.8, OTTHUMT00000254914
      Conserved Domains (1) summary
      pfam00230
      Location:31248
      MIP; Major intrinsic protein
    4. NM_004028.4NP_004019.1  aquaporin-4 isoform M23

      See identical proteins and their annotated locations for NP_004019.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as hMIWC1) 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)
      AC018371, BC030745, BU687682, HQ901095, U34845
      Consensus CDS
      CCDS58617.1
      UniProtKB/Swiss-Prot
      P55087
      UniProtKB/TrEMBL
      F1DSG4
      Related
      ENSP00000462597.1, OTTHUMP00000261815, ENST00000581374.5, OTTHUMT00000447067
      Conserved Domains (1) summary
      pfam00230
      Location:9226
      MIP; Major intrinsic protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p7 Primary Assembly

      Range
      26852038..26865844 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525942.2XP_011524244.1  aquaporin-4 isoform X1

      Conserved Domains (1) summary
      pfam00230
      Location:24241
      MIP; Major intrinsic protein

    Alternate CHM1_1.1

    Genomic

    1. NC_018929.2 Alternate CHM1_1.1

      Range
      24359745..24373546 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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