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    AQP8 aquaporin 8 [ Homo sapiens (human) ]

    Gene ID: 343, updated on 3-Dec-2024

    Summary

    Official Symbol
    AQP8provided by HGNC
    Official Full Name
    aquaporin 8provided by HGNC
    Primary source
    HGNC:HGNC:642
    See related
    Ensembl:ENSG00000103375 MIM:603750; AllianceGenome:HGNC:642
    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
    AQP-8
    Summary
    Aquaporin 8 (AQP8) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 8 mRNA is found in pancreas and colon but not other tissues. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward colon (RPKM 257.9) See more
    Orthologs
    NEW
    Try the new Gene table
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    Genomic context

    See AQP8 in Genome Data Viewer
    Location:
    16p12.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (25216947..25228932)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (25496437..25508423)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (25228268..25240253)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene leucine carboxyl methyltransferase 1 Neighboring gene LCMT1 antisense RNA 2 Neighboring gene RNA, 7SL, cytoplasmic 557, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10606 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:25268532-25269092 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7296 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10607 Neighboring gene zinc finger with KRAB and SCAN domains 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10608 Neighboring gene ZKSCAN2 divergent transcript Neighboring gene NANOG hESC enhancer GRCh37_chr16:25422594-25423095 Neighboring gene long intergenic non-protein coding RNA 2191

    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?

    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 ammonium channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables methylammonium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables urea channel 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 
    enables water channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables water channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in B cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ammonium import across plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ammonium transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ammonium transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular detoxification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to cAMP IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in hydrogen peroxide transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in hydrogen peroxide transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in methylammonium transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in methylammonium transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of cholesterol biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in transepithelial water transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in urea transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in urea transport ISS
    Inferred from Sequence or Structural Similarity
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in apical part of cell IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in apical plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in basolateral plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in brush border membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in intracellular canaliculus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intracellular canaliculus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in intracellular vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrial membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in smooth endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in smooth endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     

    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_001169.3NP_001160.2  aquaporin-8

      See identical proteins and their annotated locations for NP_001160.2

      Status: REVIEWED

      Source sequence(s)
      AB013456, AC008741, BC040630
      Consensus CDS
      CCDS10626.1
      UniProtKB/Swiss-Prot
      O94778, Q8IUU3, Q9UIA4
      UniProtKB/TrEMBL
      Q53GF6
      Related
      ENSP00000219660.5, ENST00000219660.6
      Conserved Domains (1) summary
      cl00200
      Location:38231
      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_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      25216947..25228932
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545822.3XP_011544124.1  aquaporin-8 isoform X1

      See identical proteins and their annotated locations for XP_011544124.1

      UniProtKB/TrEMBL
      Q53GF6
      Conserved Domains (1) summary
      cl00200
      Location:39232
      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_011545823.3XP_011544125.1  aquaporin-8 isoform X2

      Conserved Domains (1) summary
      cl00200
      Location:40118
      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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      25496437..25508423
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054380235.1XP_054236210.1  aquaporin-8 isoform X1

      UniProtKB/TrEMBL
      Q53GF6
    2. XM_054380236.1XP_054236211.1  aquaporin-8 isoform X2