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    AQP11 aquaporin 11 [ Homo sapiens (human) ]

    Gene ID: 282679, updated on 27-Nov-2024

    Summary

    Official Symbol
    AQP11provided by HGNC
    Official Full Name
    aquaporin 11provided by HGNC
    Primary source
    HGNC:HGNC:19940
    See related
    Ensembl:ENSG00000178301 MIM:609914; AllianceGenome:HGNC:19940
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AQPX1
    Summary
    Enables glycerol channel activity; hydrogen peroxide channel activity; and water channel activity. Involved in several processes, including glycerol transmembrane transport; hydrogen peroxide transmembrane transport; and intracellular water homeostasis. Located in cell surface; endoplasmic reticulum; and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in duodenum (RPKM 12.3), small intestine (RPKM 11.2) and 11 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See AQP11 in Genome Data Viewer
    Location:
    11q14.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (77589953..77610356)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (77523008..77543410)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (77300998..77321401)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene RNA, U7 small nuclear 59 pseudogene Neighboring gene long intergenic non-protein coding RNA 3030 Neighboring gene MPRA-validated peak1361 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3800 Neighboring gene MPRA-validated peak1362 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr11:77316282-77316821 Neighboring gene chloride nucleotide-sensitive channel 1A Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:77348567-77349086 Neighboring gene uncharacterized LOC107984369 Neighboring gene CRISPRi-validated cis-regulatory element chr11.4537

    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 channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables glycerol channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables hydrogen peroxide channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 endosomal lumen acidification IEA
    Inferred from Electronic Annotation
    more info
     
    NOT involved_in glycerol transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in glycerol transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in hydrogen peroxide transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intracellular oxygen homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular water homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in intracellular water homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intracellular water homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    NOT involved_in monoatomic ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of ERAD pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of epithelial cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of response to endoplasmic reticulum stress ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within_positive_effect protein glycosylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein homooligomerization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein targeting to membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in proximal tubule development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    NOT involved_in urea transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT involved_in water transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in water transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasmic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    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_001363477.2NP_001350406.1  aquaporin-11 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AP000609, AP002789
    2. NM_173039.3NP_766627.1  aquaporin-11 isoform 1

      See identical proteins and their annotated locations for NP_766627.1

      Status: VALIDATED

      Source sequence(s)
      AB028147, BJ994586, CX867790
      Consensus CDS
      CCDS8251.1
      UniProtKB/Swiss-Prot
      Q8NBQ7
      Related
      ENSP00000318770.3, ENST00000313578.4
      Conserved Domains (1) summary
      cl00200
      Location:46257
      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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      77589953..77610356
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      77523008..77543410
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)