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    AQP1 aquaporin 1 (Colton blood group) [ Homo sapiens (human) ]

    Gene ID: 358, updated on 17-Jun-2024

    Summary

    Official Symbol
    AQP1provided by HGNC
    Official Full Name
    aquaporin 1 (Colton blood group)provided by HGNC
    Primary source
    HGNC:HGNC:633
    See related
    Ensembl:ENSG00000240583 MIM:107776; AllianceGenome:HGNC:633
    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
    CO; CHIP28; AQP-CHIP
    Summary
    This gene encodes a small integral membrane protein with six bilayer spanning domains that functions as a water channel protein. This protein permits passive transport of water along an osmotic gradient. This gene is a possible candidate for disorders involving imbalance in ocular fluid movement. [provided by RefSeq, Aug 2016]
    Expression
    Broad expression in kidney (RPKM 409.8), lung (RPKM 246.0) and 15 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See AQP1 in Genome Data Viewer
    Location:
    7p14.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (30911853..30925516)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (31049501..31063163)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (30951468..30965131)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene INMT-MINDY4 readthrough (NMD candidate) Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18071 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18072 Neighboring gene Sharpr-MPRA regulatory region 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18073 Neighboring gene indolethylamine N-methyltransferase Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:30823626-30824126 Neighboring gene MINDY lysine 48 deubiquitinase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25817 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25819 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:30893171-30894073 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:30901315-30901474 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:30923659-30924560 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:30941843-30942646 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:30942647-30943449 Neighboring gene oxysterol binding protein like 9 pseudogene 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:30946833-30947332 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:30948457-30948956 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:30961348-30961528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25820 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:31014486-31014664 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18074 Neighboring gene uncharacterized LOC105375222 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:31024083-31024608 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:31029507-31030287 Neighboring gene growth hormone releasing hormone receptor Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:31032726-31033925 Neighboring gene uncharacterized LOC105375221

    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

    Associated conditions

    Description Tests
    Colton Blood group system
    MedGen: C1292295 OMIM: 110450 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: MINDY4

    Clone Names

    • MGC26324

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ammonium transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ammonium transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables carbon dioxide transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables carbon dioxide transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ephrin receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables glycerol transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables glycerol transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables intracellularly cGMP-activated cation channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables nitric oxide transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables potassium channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables potassium ion transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables water channel activity EXP
    Inferred from Experiment
    more info
    PubMed 
    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 transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in ammonium transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cGMP-mediated signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in camera-type eye morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in carbon dioxide transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in carbon dioxide transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in carbon dioxide transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell volume homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular hyperosmotic response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to UV IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to cAMP IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to cAMP IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cellular response to copper ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to dexamethasone stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to hydrogen peroxide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to inorganic substance IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to mechanical stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to mercury ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to nitric oxide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to retinoic acid IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to salt stress IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cerebrospinal fluid secretion IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in corticotropin secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in defense response to Gram-negative bacterium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in establishment of localization in cell IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment or maintenance of actin cytoskeleton polarity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in fibroblast migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glomerular filtration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glycerol transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in hyperosmotic response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intracellular water homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in lateral ventricle development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in lipid digestion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in metanephric descending thin limb development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in metanephric glomerulus vasculature development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in metanephric proximal convoluted tubule segment 2 development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in metanephric proximal straight tubule development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in multicellular organismal-level water homeostasis IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in nitric oxide transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in odontogenesis IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in pancreatic juice secretion IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in positive regulation of angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of fibroblast migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of fibroblast proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of saliva secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in potassium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in potassium ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in renal water absorption IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in renal water homeostasis TAS
    Traceable Author Statement
    more info
     
    involved_in renal water transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in renal water transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in secretory granule organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sensory perception of pain IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transepithelial water transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in water transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in water transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in wound healing IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of ankyrin-1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in apical part of cell IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
     
    located_in basal plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in brush border IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in brush border membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in sarcolemma IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    aquaporin-1
    Names
    Colton blood group antigen
    aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)
    aquaporin 1, Colton blood group antigen
    aquaporin-CHIP
    bloodgroup CO protein
    channel-like integral membrane protein, 28-kDa
    urine water channel
    water channel protein for red blood cells and kidney proximal tubule
    NP_001316801.1
    NP_932766.1

    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_007475.2 RefSeqGene

      Range
      63301..77124
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_808

    mRNA and Protein(s)

    1. NM_001329872.2NP_001316801.1  aquaporin-1 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks a segment in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (5) has a longer, distinct C-terminus than isoform 1.
      Source sequence(s)
      AC004691, AC005155
      UniProtKB/TrEMBL
      A0A0M7BEW0, B2R6P2, B4F4P6
    2. NM_198098.4NP_932766.1  aquaporin-1 isoform 1

      See identical proteins and their annotated locations for NP_932766.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes isoform 1.
      Source sequence(s)
      AC005155, DA197236, M77829
      Consensus CDS
      CCDS5431.1
      UniProtKB/Swiss-Prot
      B5BU39, E7EM69, E9PC21, F5GY19, P29972, Q8TBI5, Q8TDC1
      UniProtKB/TrEMBL
      A0A024RA31, A0A0M7BEW0, B2R6P2, B4F4P6
      Related
      ENSP00000311165.4, ENST00000311813.11
      Conserved Domains (1) summary
      pfam00230
      Location:4227
      MIP; Major intrinsic protein

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      30911853..30925516
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      31049501..31063163
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_000385.3: Suppressed sequence

      Description
      NM_000385.3: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
    2. NM_001185060.1: Suppressed sequence

      Description
      NM_001185060.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    3. NM_001185061.1: Suppressed sequence

      Description
      NM_001185061.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    4. NM_001185062.1: Suppressed sequence

      Description
      NM_001185062.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.