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    AQP4 aquaporin 4 [ Homo sapiens (human) ]

    Gene ID: 361, updated on 17-Jun-2019

    Summary

    Official Symbol
    AQP4provided by HGNC
    Official Full Name
    aquaporin 4provided by HGNC
    Primary source
    HGNC:HGNC:637
    See related
    Ensembl:ENSG00000171885 MIM:600308
    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. Additional isoforms, resulting from the use of alternative in-frame translation initiation codons, have also been described. Recent studies provided evidence for translational readthrough in this gene, and expression of C-terminally extended isoforms via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jun 2018]
    Expression
    Biased expression in brain (RPKM 248.2) and lung (RPKM 72.5) See more
    Orthologs

    Genomic context

    See AQP4 in Genome Data Viewer
    Location:
    18q11.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (26852038..26865803, 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 recognition factor in ER associated degradation 1 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

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • 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...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
    PubMed 
    water channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular response to interferon-gamma IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular water homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cerebrospinal fluid circulation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    multicellular organismal water homeostasis IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    protein homotetramerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    renal water homeostasis TAS
    Traceable Author Statement
    more info
     
    transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    water homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    water transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    water transport TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    astrocyte end-foot ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    basolateral plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    basolateral plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    sarcolemma IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    aquaporin-4
    Names
    aquaporin type4
    mercurial-insensitive water channel

    NCBI Reference Sequences (RefSeq)

    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
      4950..18715
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001317384.2NP_001304313.1  aquaporin-4 isoform M1x

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as hMIWC2) represents the predominant transcript and encodes four isoforms, resulting from the use of two alternative in-frame translation initiation codons and two alternative in-frame translation termination codons. This RefSeq represents the longest, C-terminally extended isoform (M1x, also known as M1ex), which results from the use of the upstream AUG start codon and readthrough of the upstream UGA stop codon to the downstream UAA stop codon. As the UGA stop codon has been reported to specify several alternative amino acids (tryptophan, cysteine, arginine and serine), its location in this isoform is denoted by an 'X'.
      Source sequence(s)
      AC018371, AK222684, BU687682, DA244620, DT220791, HQ901095
      UniProtKB/TrEMBL
      F1DSG4
      Conserved Domains (1) summary
      pfam00230
      Location:31248
      MIP; Major intrinsic protein
    2. NM_001317387.2NP_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, and downregulates the expression and water channel activity of isoform M1; thus, appears to function as a regulator of water permeability (PMID:24356448).
      Source sequence(s)
      AC018371, AK222684, BU687682, DA244620, DT220791, HQ901095
      UniProtKB/TrEMBL
      F1DSG4, V9PBN7
      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_001364286.1NP_001351215.1  aquaporin-4 isoform M23

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as hMIWC2) represents the predominant transcript and encodes four isoforms, resulting from the use of two alternative in-frame translation initiation codons and two alternative in-frame translation termination codons. This RefSeq represents isoform M23, which results from the use of the downstream in-frame AUG start codon and the upstream UGA stop codon. Isoform M23 has a shorter N-terminus compared to isoform M1. An alternatively spliced transcript variant (NM_004028.4) encodes the same isoform.
      Source sequence(s)
      AC018371, AK222684, BU687682, DA244620, DT220791, HQ901095
      Conserved Domains (1) summary
      pfam00230
      Location:9226
      MIP; Major intrinsic protein
    4. NM_001364287.1NP_001351216.1  aquaporin-4 isoform M23x

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as hMIWC2) represents the predominant transcript and encodes four isoforms, resulting from the use of two alternative in-frame translation initiation codons and two alternative in-frame translation termination codons. This RefSeq represents a C-terminally extended isoform (M23x, also known as M23ex), which results from the use of the downstream in-frame AUG start codon and readthrough of the upstream UGA stop codon to the downstream UAA stop codon. As the UGA stop codon has been reported to specify several alternative amino acids (tryptophan, cysteine, arginine and serine), its location in this isoform is denoted by an 'X'. An alternatively spliced transcript variant (NM_001364289.1) encodes the same isoform.
      Source sequence(s)
      AC018371, AK222684, BU687682, DA244620, DT220791, HQ901095
      Conserved Domains (1) summary
      pfam00230
      Location:9226
      MIP; Major intrinsic protein
    5. NM_001364289.1NP_001351218.1  aquaporin-4 isoform M23x

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as hMIWC1) is alternatively spliced at the 5' end, which causes translation initiation from an in-frame, downstream start codon, compared to variant 1. Variant 2 encodes two isoforms, resulting from the use of alternative in-frame translation termination codons. The encoded isoform (M23x, also known as M23ex), which results from readthrough of the upstream UGA stop codon to the downstream UAA stop codon, has a shorter N-terminus and a longer C-terminus compared to isoform M1. As the UGA stop codon has been reported to specify several alternative amino acids (tryptophan, cysteine, arginine and serine), its location in isoform M23x is denoted by an 'X'. This isoform is the same as that represented in NM_001364287.1.
      Source sequence(s)
      AC018371, BC030745, BU687682, HQ901095, U34845
      Conserved Domains (1) summary
      pfam00230
      Location:9226
      MIP; Major intrinsic protein
    6. NM_001650.7NP_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 four isoforms, resulting from the use of two alternative in-frame translation initiation codons and two alternative in-frame translation termination codons. This RefSeq represents isoform M1, which results from the use of the upstream AUG start codon and the upstream UGA stop codon.
      Source sequence(s)
      AC018371, AK222684, BU687682, DA244620, DT220791, HQ901095
      Consensus CDS
      CCDS11889.1
      UniProtKB/Swiss-Prot
      P55087
      UniProtKB/TrEMBL
      F1DSG4
      Related
      ENSP00000372654.4, ENST00000383168.9
      Conserved Domains (1) summary
      pfam00230
      Location:31248
      MIP; Major intrinsic protein
    7. 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) is alternatively spliced at the 5' end, which causes translation initiation from an in-frame, downstream start codon, compared to variant 1. Variant 2 encodes two isoforms, resulting from the use of alternative in-frame translation termination codons. The encoded isoform (M23), which results from the use of the upstream UGA stop codon, has a shorter N-terminus compared to isoform M1. This isoform is the same as that represented in NM_001364286.1.
      Source sequence(s)
      AC018371, BC030745, BU687682, HQ901095, U34845
      Consensus CDS
      CCDS58617.1
      UniProtKB/Swiss-Prot
      P55087
      UniProtKB/TrEMBL
      F1DSG4
      Related
      ENSP00000462597.1, ENST00000581374.5
      Conserved Domains (1) summary
      pfam00230
      Location:9226
      MIP; Major intrinsic protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

      Range
      26852038..26865803 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525942.3XP_011524244.1  aquaporin-4 isoform X1

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