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Atp1a3 Gene Detail
Summary
  • Symbol
    Atp1a3
  • Name
    ATPase, Na+/K+ transporting, alpha 3 polypeptide
  • Synonyms
    Atpa-2, MGC:27631, MGC:38713, MGC:38914, MGC:39036
  • Feature Type
    protein coding gene
  • IDs
    MGI:88107
    NCBI Gene: 232975
  • Alliance
    gene page
  • Transcription Start Sites
    31 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:24677592-24705383 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 13.73 cM
  • Mapping Data
    18 experiments
Strain
Comparison
more
  • SNPs within 2kb
    158 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    5
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88107
 protein coding gene Chr7:24677592-24705502 (-)
129S1/SvImJ MGP_129S1SvImJ_G0031851
 protein coding gene Chr7:23394510-23426896 (-)
A/J MGP_AJ_G0031830
 protein coding gene Chr7:22816522-22844764 (-)
AKR/J MGP_AKRJ_G0031759
 protein coding gene Chr7:23349510-23378671 (-)
BALB/cJ MGP_BALBcJ_G0031837
 protein coding gene Chr7:23020564-23048035 (-)
C3H/HeJ MGP_C3HHeJ_G0031556
 protein coding gene Chr7:23773117-23801495 (-)
C57BL/6NJ MGP_C57BL6NJ_G0032299
 protein coding gene Chr7:24182994-24211690 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0029354
 protein coding gene Chr7:24245593-24273559 (-)
CAST/EiJ MGP_CASTEiJ_G0030896
 protein coding gene Chr7:17244256-17276681 (-)
CBA/J MGP_CBAJ_G0031521
 protein coding gene Chr7:25060416-25096027 (-)
DBA/2J MGP_DBA2J_G0031675
 protein coding gene Chr7:22718957-22748620 (-)
FVB/NJ MGP_FVBNJ_G0031628
 protein coding gene Chr7:22705971-22736873 (-)
LP/J MGP_LPJ_G0031754
 protein coding gene Chr7:23707355-23736925 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0031665
 protein coding gene Chr7:24800246-24830810 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0032331
 protein coding gene Chr7:23046677-23074713 (-)
PWK/PhJ MGP_PWKPhJ_G0030620
 protein coding gene Chr7:17651024-17678960 (-)
SPRET/EiJ MGP_SPRETEiJ_G0030451
 protein coding gene Chr7:14362382-14391516 (-)
WSB/EiJ MGP_WSBEiJ_G0030999
 protein coding gene Chr7:23217988-23245526 (-)



Homology
more
  • Human Ortholog
    ATP1A3, ATPase Na+/K+ transporting subunit alpha 3
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ATP1A3, ATPase Na+/K+ transporting subunit alpha 3
  • Synonyms
    AHC2, ATP1A1, CAPOS, DEE99, DYT12, RDP
  • Links
    NCBI Gene ID: 478
    neXtProt AC: NX_P13637
    UniProt: P13637

  • Chr Location
    19q13.2; chr19:41966582-41994276 (-)  GRCh38.p7
Human Diseases
more
  • Diseases
    2 with Atp1a3 mouse models; 5 with human ATP1A3 associations

Human Disease Mouse Models
      
IDs
 View 4 models
IDs
 View 1 model
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    72 phenotypes from 7 alleles in 9 genetic backgrounds
    6 phenotypes from multigenic genotypes
    32 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.
Mice homozygous for a mutation in this gene display neonatal lethality. Heterozygous mice display hyperactivity, increased activity in responses to methamphetamine, and impaired spatial learning. Mice heterozygous for an ENU mutation exhibit convulsive and vestibular stress induced seizures.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    63
  • GO References
    10
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
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
    907
  • Tissues
    159
  • cDNA Data
    9
  • Literature Summary
    21
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000040907 Ensembl Gene Model | MGI Sequence Detail 27792 C57BL/6J ±  kb
    transcript ENSMUST00000102858 Ensembl | MGI Sequence Detail 3895 Not Applicable  
    polypeptide ENSMUSP00000099922 Ensembl | MGI Sequence Detail 1053 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 19
      cDNA 15
      Primer pair 3
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-1459, MGD-MRK-1471
    References
    more
    • Summaries
      All 88
      Developmental Gene Expression 21
      Diseases 6
      Gene Ontology 10
      Phenotypes 32
    • Earliest
      J:8782 Kent RB, et al., Genes encoding alpha and beta subunits of Na,K-ATPase are located on three different chromosomes in the mouse. Proc Natl Acad Sci U S A. 1987 Aug;84(15):5369-73
    • Latest
      J:330184 Tuomainen T, et al., PGC-1alpha4 Interacts with REST to Upregulate Neuronal Genes and Augment Energy Consumption in Developing Cardiomyocytes. Cells. 2022 Sep 20;11(19)
    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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    05/24/2023
    MGI 6.22     		The Jackson Laboratory