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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
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:55313417-55325540 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 27.38 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    86 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_103201
 protein coding gene Chr6:55313284-55325540 (+)
129S1/SvImJ MGP_129S1SvImJ_G0030772
 protein coding gene Chr6:54737915-54750036 (+)
A/J MGP_AJ_G0030741
 protein coding gene Chr6:52197331-52209452 (+)
AKR/J MGP_AKRJ_G0030668
 protein coding gene Chr6:53973131-53985250 (+)
BALB/cJ MGP_BALBcJ_G0030753
 protein coding gene Chr6:52570059-52582180 (+)
C3H/HeJ MGP_C3HHeJ_G0030466
 protein coding gene Chr6:53996808-54008929 (+)
C57BL/6NJ MGP_C57BL6NJ_G0031208
 protein coding gene Chr6:55965139-55977262 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028414
 protein coding gene Chr6:49807006-49819235 (+)
CAST/EiJ MGP_CASTEiJ_G0029869
 protein coding gene Chr6:53847105-53861203 (+)
CBA/J MGP_CBAJ_G0030440
 protein coding gene Chr6:58260531-58272652 (+)
DBA/2J MGP_DBA2J_G0030590
 protein coding gene Chr6:52096165-52108286 (+)
FVB/NJ MGP_FVBNJ_G0030542
 protein coding gene Chr6:51695611-51708278 (+)
LP/J MGP_LPJ_G0030675
 protein coding gene Chr6:54672268-54684389 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030576
 protein coding gene Chr6:60763030-60775151 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031238
 protein coding gene Chr6:53943201-53955322 (+)
PWK/PhJ MGP_PWKPhJ_G0029582
 protein coding gene Chr6:51762275-51774598 (+)
SPRET/EiJ MGP_SPRETEiJ_G0029416
 protein coding gene Chr6:53325909-53338155 (+)
WSB/EiJ MGP_WSBEiJ_G0029946
 protein coding gene Chr6:53972917-53985038 (+)



Homology
more
  • Human Ortholog
    AQP1, aquaporin 1 (Colton blood group)
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AQP1, aquaporin 1 (Colton blood group)
  • Synonyms
    AQP-CHIP, CHIP28, CO
  • Links
    NCBI Gene ID: 358
    neXtProt AC: NX_P29972
    UniProt: P29972

  • Chr Location
    7p14.3; chr7:30911853-30925517 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    34 phenotypes from 2 alleles in 3 genetic backgrounds
    12 phenotypes from multigenic genotypes
    92 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous mutation of this gene results in urine hypoosmality.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    165
  • GO References
    47
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    1689
  • Tissues
    268
  • cDNA Data
    171
  • Literature Summary
    108
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000004655 Ensembl Gene Model | MGI Sequence Detail 12124 C57BL/6J ±  kb
    transcript ENSMUST00000004774 Ensembl | MGI Sequence Detail 2627 Not Applicable  
    polypeptide ENSMUSP00000004774 Ensembl | MGI Sequence Detail 269 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 193
      Genomic 8
      cDNA 171
      Primer pair 12
      Other 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-24069
    References
    more
    • Summaries
      All 261
      Developmental Gene Expression 108
      Gene Ontology 47
      Phenotypes 92
    • 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:346907 Sunny SS, et al., Ovol2 promoter mutations in mice and human illuminate species-specific phenotypic divergence. Hum Mol Genet. 2024 Feb 28;33(6):491-500
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory