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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
Location & Maps
more
  • Sequence Map
    Chr7:24978167-25005958 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      27792 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    ATP1A3, ATPase, Na+/K+ transporting, alpha 3 polypeptide
  • Vertebrate Orthologs
    11
  • Human Ortholog
    ATP1A3, ATPase, Na+/K+ transporting, alpha 3 polypeptide
    Orthology source: HomoloGene
  • Synonyms
    AHC2, CAPOS, DYT12, RDP
  • Links
    NCBI Gene ID: 478
    neXtProt AC: NX_P13637

  • Chr Location
    19q13.31; chr19:41966582-41994276 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    3 with human ATP1A3 associations

Human Disease Mouse Models
       Alternating Hemiplegia of Childhood 2; AHC2   OMIM: 614820
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss; CAPOS   OMIM: 601338
Dystonia 12; DYT12   OMIM: 128235
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    41 phenotypes from 4 alleles in 6 genetic backgrounds
    15 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    7
  • Chemically induced (ENU)
    1
  • Gene trapped
    1
  • Targeted
    4
  • Transgenic
    1
  • Incidental Mutations
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
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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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016491 VEGA Gene Model | MGI Sequence Detail 27792 C57BL/6J ±  kb
transcript OTTMUST00000039800 VEGA | MGI Sequence Detail 3895 Not Applicable  
polypeptide OTTMUSP00000017755 VEGA | MGI Sequence Detail 1053 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    158 from dbSNP Build 137
  • RFLP
Protein
Information
less
Molecular
Reagents
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  • All nucleic 17
    cDNA 13
    Primer pair 3
    Other 1

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-1459, MGD-MRK-1471
References
more
  • Summaries
    All 56
    Developmental Gene Expression 11
    Gene Ontology 9
    Phenotypes 15
  • 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:216997 Sugimoto H, et al., Heterozygous mice deficient in Atp1a3 exhibit motor deficits by chronic restraint stress. Behav Brain Res. 2014 Oct 1;272:100-10

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory