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Aqp1 Gene Detail
Summary
  • Symbol
    Aqp1
  • Name
    aquaporin 1
  • Synonyms
    CHIP28
  • Feature Type
    protein coding gene
  • IDs
    MGI:103201
    NCBI Gene: 11826
  • Gene Overview
    MyGene.info: AQP1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr6:55336432-55348555 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      12124 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 27.38 cM
  • Mapping Data
    6 experiments
Homology
more
  • Human Ortholog
    AQP1, aquaporin 1 (Colton blood group)
  • Vertebrate Orthologs
    10
  • Human Ortholog
    AQP1, aquaporin 1 (Colton blood group)
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AQP-CHIP, CHIP28, CO
  • Links
    NCBI Gene ID: 358
    neXtProt AC: NX_P29972
    UniProt: P29972

  • Chr Location
    7p14.3; chr7:30911800-30925516 (+)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    25 phenotypes from 2 alleles in 3 genetic backgrounds
    12 phenotypes from multigenic genotypes
    70 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous mutation of this gene results in urine hypoosmality.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000026098 VEGA Gene Model | MGI Sequence Detail 12124 C57BL/6J ±  kb
    transcript OTTMUST00000064430 VEGA | MGI Sequence Detail 2627 Not Applicable  
    polypeptide OTTMUSP00000031991 VEGA | MGI Sequence Detail 269 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      87 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 184
      Genomic 8
      cDNA 170
      Primer pair 5
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-24069
    References
    more
    • Summaries
      All 198
      Developmental Gene Expression 71
      Gene Ontology 45
      Phenotypes 70
    • Earliest
      J:27223 Lanahan A, et al., Growth factor-induced delayed early response genes. Mol Cell Biol. 1992 Sep;12(9):3919-29
    • Latest
      J:262190 Sugie J, et al., Water transport and homeostasis as a major function of erythrocytes. Am J Physiol Heart Circ Physiol. 2018 May 1;314(5):H1098-H1107

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    07/31/2018
    MGI 6.12
    The Jackson Laboratory