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

Gene ID: 358, updated on 3-Jun-2018
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; Vega:OTTHUMG00000023944
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
See AQP1 in Genome Data Viewer
Location:
7p14.3
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (30911694..30925517)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (30951415..30965131)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene INMT-MINDY4 readthrough (NMD candidate) Neighboring gene indolethylamine N-methyltransferase Neighboring gene MINDY lysine 48 deubiquitinase 4 Neighboring gene oxysterol binding protein like 9 pseudogene 6 Neighboring gene uncharacterized LOC105375222 Neighboring gene growth hormone releasing hormone receptor Neighboring gene uncharacterized LOC105375221

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Colton Blood group system
MedGen: C1292295 OMIM: 110450 GeneReviews: Not available
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NHGRI 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.
NHGRI GWA Catalog
  • 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...
  • Erythrocytes take up carbon dioxide and release oxygen, organism-specific biosystem (from REACTOME)
    Erythrocytes take up carbon dioxide and release oxygen, organism-specific biosystemCarbon dioxide (CO2) in plasma is hydrated to yield protons (H+) and bicarbonate (HCO3-) by carbonic anhydrase IV (CA4) located on the apical plasma membranes of endothelial cells. Plasma CO2 is also...
  • Erythrocytes take up oxygen and release carbon dioxide, organism-specific biosystem (from REACTOME)
    Erythrocytes take up oxygen and release carbon dioxide, organism-specific biosystemErythrocytes circulating through the capillaries of the lung must exchange carbon dioxide (CO2) for oxygen (O2) during their short (0.5-1 sec.) transit time in pulmonary tissue (Reviewed in Jensen 20...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • O2/CO2 exchange in erythrocytes, organism-specific biosystem (from REACTOME)
    O2/CO2 exchange in erythrocytes, organism-specific biosystemIn capillaries of the lungs erythrocytes release carbon dioxide (CO2) and acquire oxygen (O2). In other tissues of the body the reverse reaction occurs (reviewed in Nikinmaa 1997, Jensen 2004).In the...
  • 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...
  • Proximal tubule bicarbonate reclamation, organism-specific biosystem (from KEGG)
    Proximal tubule bicarbonate reclamation, organism-specific biosystemOne of the major tasks of the renal proximal tubule (PT) is to secrete acid into the tubule lumen, thereby reabsorbing approximately 80% of the filtered bicarbonate (HCO3(-)), as well as generating "...
  • Proximal tubule bicarbonate reclamation, conserved biosystem (from KEGG)
    Proximal tubule bicarbonate reclamation, conserved biosystemOne of the major tasks of the renal proximal tubule (PT) is to secrete acid into the tubule lumen, thereby reabsorbing approximately 80% of the filtered bicarbonate (HCO3(-)), as well as generating "...
  • Renin secretion, organism-specific biosystem (from KEGG)
    Renin secretion, organism-specific biosystemThe aspartyl-protease renin is the key regulator of the renin-angiotensin-aldosterone system, which is critically involved in extracellular fluid volume and blood pressure homeostasis of the body. R...
  • Renin secretion, conserved biosystem (from KEGG)
    Renin secretion, conserved biosystemThe aspartyl-protease renin is the key regulator of the renin-angiotensin-aldosterone system, which is critically involved in extracellular fluid volume and blood pressure homeostasis of the body. R...
  • 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...
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Potential readthrough

Included gene: MINDY4

Homology

Clone Names

  • MGC26324

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ammonium transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ammonium transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
carbon dioxide transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
carbon dioxide transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
carbon dioxide transmembrane transporter activity TAS
Traceable Author Statement
more info
 
glycerol transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
intracellular cGMP activated cation channel activity IDA
Inferred from Direct Assay
more info
PubMed 
nitric oxide transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
potassium channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
potassium ion transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
water channel activity EXP
Inferred from Experiment
more info
PubMed 
water channel activity IDA
Inferred from Direct Assay
more info
PubMed 
water channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
water transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
ammonium transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
ammonium transport IDA
Inferred from Direct Assay
more info
PubMed 
bicarbonate transport TAS
Traceable Author Statement
more info
 
cGMP biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
carbon dioxide transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
carbon dioxide transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
carbon dioxide transport IDA
Inferred from Direct Assay
more info
PubMed 
cell volume homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
cellular hyperosmotic response IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to UV IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to cAMP IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to cAMP IEP
Inferred from Expression Pattern
more info
PubMed 
cellular response to copper ion IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to dexamethasone stimulus IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to hydrogen peroxide IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to hypoxia IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to inorganic substance IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to mechanical stimulus IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to mercury ion IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to nitric oxide IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to retinoic acid IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to salt stress IDA
Inferred from Direct Assay
more info
PubMed 
cerebrospinal fluid secretion IEP
Inferred from Expression Pattern
more info
PubMed 
establishment or maintenance of actin cytoskeleton polarity IMP
Inferred from Mutant Phenotype
more info
PubMed 
glycerol transport IDA
Inferred from Direct Assay
more info
PubMed 
lateral ventricle development IEP
Inferred from Expression Pattern
more info
PubMed 
maintenance of symbiont-containing vacuole by host IMP
Inferred from Mutant Phenotype
more info
PubMed 
multicellular organismal water homeostasis IEP
Inferred from Expression Pattern
more info
PubMed 
negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
nitric oxide transport IDA
Inferred from Direct Assay
more info
PubMed 
odontogenesis IEP
Inferred from Expression Pattern
more info
PubMed 
pancreatic juice secretion IEP
Inferred from Expression Pattern
more info
PubMed 
positive regulation of angiogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of fibroblast proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of saliva secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
potassium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
potassium ion transport ISS
Inferred from Sequence or Structural Similarity
more info
 
renal water homeostasis TAS
Traceable Author Statement
more info
 
renal water transport IDA
Inferred from Direct Assay
more info
PubMed 
response to drug IDA
Inferred from Direct Assay
more info
PubMed 
transepithelial water transport IDA
Inferred from Direct Assay
more info
PubMed 
water transport IDA
Inferred from Direct Assay
more info
PubMed 
water transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
water transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
apical part of cell IDA
Inferred from Direct Assay
more info
PubMed 
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
basal plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
basolateral plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
brush border IDA
Inferred from Direct Assay
more info
PubMed 
brush border membrane IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
nuclear membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
NOT 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 
symbiont-containing vacuole ISS
Inferred from Sequence or Structural Similarity
more info
 
colocalizes_with symbiont-containing vacuole membrane IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
aquaporin-1
Names
aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)
aquaporin 1, Colton blood group antigen
aquaporin-CHIP
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

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)

mRNA and Protein(s)

  1. NM_001329872.1NP_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
  2. NM_198098.3NP_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
    P29972
    UniProtKB/TrEMBL
    A0A024RA31
    Related
    ENSP00000311165.4, OTTHUMP00000123398, ENST00000311813.9, OTTHUMT00000215002
    Conserved Domains (1) summary
    pfam00230
    Location:4227
    MIP; Major intrinsic protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    30911694..30925517
    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.
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