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

Gene ID: 358, updated on 19-Sep-2021

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
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
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Genomic context

See AQP1 in Genome Data Viewer
Location:
7p14.3
Exon count:
4
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (30911853..30925516)
105.20201022 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 Sharpr-MPRA regulatory region 4 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

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
A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1.
GeneReviews: Not available
Colton Blood group system
MedGen: C1292295 OMIM: 110450 GeneReviews: Not available
Compare labs

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: MINDY4

Homology

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
PubMed 
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
PubMed 
enables carbon dioxide transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
enables glycerol transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 intracellular 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
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 transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in ammonium transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in ammonium transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cGMP-mediated signaling IDA
Inferred from Direct Assay
more info
PubMed 
involved_in carbon dioxide transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 cellular water homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cerebrospinal fluid secretion IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in defense response to Gram-negative bacterium IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in establishment or maintenance of actin cytoskeleton polarity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in glycerol transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in hyperosmotic response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in lateral ventricle development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in multicellular organismal 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 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 homeostasis TAS
Traceable Author Statement
more info
 
involved_in renal water transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in renal water transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in transepithelial water transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in water transport IBA
Inferred from Biological aspect of Ancestor
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 

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
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
  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
    P29972
    UniProtKB/TrEMBL
    A0A024RA31
    Related
    ENSP00000311165.4, ENST00000311813.11
    Conserved Domains (1) summary
    pfam00230
    Location:4227
    MIP; Major intrinsic protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    30911853..30925516
    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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