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    AQP9 aquaporin 9 [ Homo sapiens (human) ]

    Gene ID: 366, updated on 5-Mar-2024

    Summary

    Official Symbol
    AQP9provided by HGNC
    Official Full Name
    aquaporin 9provided by HGNC
    Primary source
    HGNC:HGNC:643
    See related
    Ensembl:ENSG00000103569 MIM:602914; AllianceGenome:HGNC:643
    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
    SSC1; AQP-9; T17287; HsT17287
    Summary
    The aquaporins are a family of water-selective membrane channels. This gene encodes a member of a subset of aquaporins called the aquaglyceroporins. This protein allows passage of a broad range of noncharged solutes and also stimulates urea transport and osmotic water permeability. This protein may also facilitate the uptake of glycerol in hepatic tissue . The encoded protein may also play a role in specialized leukocyte functions such as immunological response and bactericidal activity. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
    Expression
    Biased expression in liver (RPKM 174.7), appendix (RPKM 48.0) and 3 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    15q21.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (58138169..58185911)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (55940466..55988212)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (58430368..58478110)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene aldehyde dehydrogenase 1 family member A2 Neighboring gene calponin 2 pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr15:58341834-58342511 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:58356927-58357446 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:58357447-58357966 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6477 Neighboring gene ALDH1A2 antisense RNA 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:58402780-58403979 Neighboring gene MT-ND4L pseudogene 23 Neighboring gene MT-ND3 pseudogene 12 Neighboring gene MT-CO3 pseudogene 23 Neighboring gene MT-ND5 pseudogene 32 Neighboring gene MT-ND6 pseudogene 23 Neighboring gene MT-CYB pseudogene 23 Neighboring gene Sharpr-MPRA regulatory regions 15447 and 13480 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:58485939-58486439 Neighboring gene ribosomal protein L28 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6478 Neighboring gene uncharacterized LOC124903499

    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 Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of aquaporin 9 (AQP9) in peptide-treated PBMCs PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables glycerol channel activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables glycerol channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables glycerol channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables purine nucleobase transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables pyrimidine nucleobase transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables urea channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables urea transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables urea transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 
    Process Evidence Code Pubs
    involved_in amine transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in canalicular bile acid transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to cAMP IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in glycerol transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in glycerol transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in glycerol transmembrane transport TAS
    Traceable Author Statement
    more info
     
    involved_in purine nucleobase transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in purine nucleobase transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in pyrimidine nucleobase transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in pyrimidine-containing compound transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to pain IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in urea transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 
    Component Evidence Code Pubs
    is_active_in basolateral plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    aquaporin-9
    Names
    aquaglyceroporin-9
    small solute channel 1

    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.

    Genomic

    1. NG_011975.2 RefSeqGene

      Range
      5173..52703
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001320635.2NP_001307564.1  aquaporin-9 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 3' codingregion which results in a frameshift compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC025431, AC066616
      Conserved Domains (1) summary
      cl00200
      Location:24165
      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. NM_001320636.1NP_001307565.1  aquaporin-9 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate 5' most exon which results in a distinct 5' UTR and the use of a downstream start codon compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC066616, DC296768
      Consensus CDS
      CCDS81887.1
      UniProtKB/TrEMBL
      B4DT52, H0YK62
      Related
      ENSP00000452673.1, ENST00000558772.5
      Conserved Domains (1) summary
      cl00200
      Location:1201
      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_020980.5NP_066190.2  aquaporin-9 isoform 1

      See identical proteins and their annotated locations for NP_066190.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AB008775, AC066616
      Consensus CDS
      CCDS10165.1
      UniProtKB/Swiss-Prot
      O43315, Q9NP32
      UniProtKB/TrEMBL
      Q6FGT0
      Related
      ENSP00000219919.4, ENST00000219919.9
      Conserved Domains (1) summary
      cl00200
      Location:1266
      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 ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      58138169..58185911
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      55940466..55988212
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)