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Atp1a1 Gene Detail
Summary
  • Symbol
    Atp1a1
  • Name
    ATPase, Na+/K+ transporting, alpha 1 polypeptide
  • Synonyms
    Atpa-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:88105
    NCBI Gene: 11928
  • Alliance
    gene page
  • Transcription Start Sites
    14 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:101483535-101512000 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 44.30 cM, cytoband F3
  • Mapping Data
    12 experiments
Strain
Comparison
more
  • SNPs within 2kb
    769 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88105
 protein coding gene Chr3:101483535-101512023 (-)
129S1/SvImJ MGP_129S1SvImJ_G0027676
 protein coding gene Chr3:102758983-102787471 (-)
A/J MGP_AJ_G0027635
 protein coding gene Chr3:99505584-99534057 (-)
AKR/J MGP_AKRJ_G0027601
 protein coding gene Chr3:101970975-101999450 (-)
BALB/cJ MGP_BALBcJ_G0027648
 protein coding gene Chr3:99260884-99289342 (-)
C3H/HeJ MGP_C3HHeJ_G0027377
 protein coding gene Chr3:102254708-102283943 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028091
 protein coding gene Chr3:106540557-106570808 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0025432
 protein coding gene Chr3:95700826-95729604 (-)
CAST/EiJ MGP_CASTEiJ_G0026833
 protein coding gene Chr3:101354444-101384734 (-)
CBA/J MGP_CBAJ_G0027352
 protein coding gene Chr3:110201448-110229935 (-)
DBA/2J MGP_DBA2J_G0027495
 protein coding gene Chr3:98744987-98773444 (-)
FVB/NJ MGP_FVBNJ_G0027463
 protein coding gene Chr3:96684534-96713011 (-)
LP/J MGP_LPJ_G0027602
 protein coding gene Chr3:104114661-104143096 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0027493
 protein coding gene Chr3:116377253-116405679 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028146
 protein coding gene Chr3:101453079-101481549 (-)
PWK/PhJ MGP_PWKPhJ_G0026560
 protein coding gene Chr3:98507861-98536839 (-)
SPRET/EiJ MGP_SPRETEiJ_G0026382
 protein coding gene Chr3:99537340-99567706 (-)
WSB/EiJ MGP_WSBEiJ_G0026913
 protein coding gene Chr3:102014713-102043212 (-)



Homology
more
  • Human Ortholog
    ATP1A1, ATPase Na+/K+ transporting subunit alpha 1
  • Vertebrate Orthologs
    8
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ATP1A1, ATPase Na+/K+ transporting subunit alpha 1
  • Synonyms
    CMT2DD, HOMGSMR2
  • Links
    NCBI Gene ID: 476
    neXtProt AC: NX_P05023
    UniProt: P05023

  • Chr Location
    1p13.1; chr1:116372668-116410261 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human ATP1A1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    24 phenotypes from 3 alleles in 5 genetic backgrounds
    1 phenotype from multigenic genotypes
    47 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.
Mice homozygous for disruptions in this gene have a lethal phenotype. Heterozygotes display increased anxiety and decreased exploratory behavior in a new environment.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    108
  • GO References
    27
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
membraneless 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
    1036
  • Tissues
    252
  • cDNA Data
    732
  • Literature Summary
    67
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000033161 Ensembl Gene Model | MGI Sequence Detail 28466 C57BL/6J ±  kb
    transcript ENSMUST00000036493 Ensembl | MGI Sequence Detail 3679 Not Applicable  
    polypeptide ENSMUSP00000039657 Ensembl | MGI Sequence Detail 1023 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 746
      Genomic 4
      cDNA 739
      Primer pair 3

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-1457, MGD-MRK-1470, MGI:2387620
    References
    more
    • Summaries
      All 188
      Developmental Gene Expression 67
      Diseases 1
      Gene Ontology 27
      Phenotypes 47
    • Earliest
      J:7397 Levenson R, et al., Molecular cloning of the mouse ouabain-resistance gene. Proc Natl Acad Sci U S A. 1984 Mar;81(5):1489-93
    • Latest
      J:346057 Lu D, et al., ESCRT-I protein UBAP1 controls ventricular expansion and cortical neurogenesis via modulating adherens junctions of radial glial cells. Cell Rep. 2024 Feb 24;43(3):113818
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory