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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
    Chr7:24677592-24705338 bp, - strand
    From NCBI 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
    828 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 Chr7:24677592-24705383 (-)
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; chr19:41966582-41997497 (-)  GRCh38
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
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  • Phenotype Summary
    73 phenotypes from 8 alleles in 12 genetic backgrounds
    35 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 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
    134
  • 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
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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
    927
  • Tissues
    163
  • cDNA Data
    9
  • Literature Summary
    24
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 232975 NCBI Gene Model | MGI Sequence Detail 27747 C57BL/6J ±  kb
    transcript NM_001420792 RefSeq | MGI Sequence Detail 3952 ZRU/MplStud  
    polypeptide Q6PIC6 UniProt | EBI | MGI Sequence Detail 1013 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • Protein Ontology
      PR:000004437 sodium/potassium-transporting ATPase subunit alpha-3
      (term hierarchy)
    • EC
      7.2.2.13
    • InterPro Domains
      IPR050510 Cation transport ATPase (P-type)
      IPR006068 Cation-transporting P-type ATPase, C-terminal
      IPR004014 Cation-transporting P-type ATPase, N-terminal
      IPR036412 HAD-like superfamily
      IPR023214 HAD superfamily
      IPR001757 P-type ATPase
      IPR008250 P-type ATPase, A domain superfamily
      IPR023299 P-type ATPase, cytoplasmic domain N
      IPR044492 P-type ATPase, haloacid dehalogenase domain
      IPR018303 P-type ATPase, phosphorylation site
      IPR005775 P-type ATPase subfamily IIC, subunit alpha
      IPR023298 P-type ATPase, transmembrane domain superfamily
    • GlyGen
      Q6PIC6 9 sites, 7 N-linked glycans (6 sites), 1 O-linked glycan (3 sites)
    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 96
      Developmental Gene Expression 24
      Diseases 6
      Gene Ontology 27
      Phenotypes 35
    • 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:353404 Liu YB, et al., Phenotype Distinctions in Mice Deficient in the Neuron-Specific alpha3 Subunit of Na,K-ATPase: Atp1a3(tm1Ling/+) and Atp1a3 (+/D801Y). eNeuro. 2024 Aug;11(8):ENEURO.0101-24.2024
    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)
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    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