ATP1A3 information

ATP1A3
Identifiers
Aliases	ATP1A3, AHC2, DYT12, RDP, CAPOS, ATPase Na+/K+ transporting subunit alpha 3, ATP1A1, DEE99
External IDs	OMIM: 182350; MGI: 88107; HomoloGene: 113729; GeneCards: ATP1A3; OMA:ATP1A3 - orthologs
Gene location (Human)
Chr.	Chromosome 19 (human)
End	41,997,497 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	24,705,383 bp
RNA expression pattern
	Top expressed in
	superior frontal gyrus; ; primary visual cortex; ; right hemisphere of cerebellum; ; prefrontal cortex; ; apex of heart; ; dorsolateral prefrontal cortex; ; right frontal lobe; ; Brodmann area 9; ; hypothalamus; ; anterior cingulate cortex;
	Top expressed in
	primary visual cortex; ; dentate gyrus of hippocampal formation granule cell; ; neural layer of retina; ; superior frontal gyrus; ; subiculum; ; dorsomedial hypothalamic nucleus; ; pontine nuclei; ; cerebellar cortex; ; dorsal tegmental nucleus; ; habenula;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	steroid hormone binding; nucleotide binding; chaperone binding; P-type sodium:potassium-exchanging transporter activity; metal ion binding; P-type sodium:potassium-exchanging transporter activity involved in regulation of cardiac muscle cell membrane potential; heparan sulfate proteoglycan binding; D1 dopamine receptor binding; hydrolase activity; ATP binding; amyloid-beta binding; P-type potassium transmembrane transporter activity; ion antiporter activity involved in regulation of presynaptic membrane potential;
Cellular component	cytoplasm; integral component of membrane; dendritic spine neck; extracellular vesicle; Golgi apparatus; membrane; myelin sheath; plasma membrane; synapse; sodium:potassium-exchanging ATPase complex; axon; dendritic spine head; endoplasmic reticulum; sarcolemma; nucleus; neuronal cell body membrane; neuronal cell body;
Biological process	visual learning; cellular response to steroid hormone stimulus; regulation of cardiac conduction; cardiac muscle contraction; sodium ion transport; cellular sodium ion homeostasis; adult locomotory behavior; sodium ion export across plasma membrane; cell communication by electrical coupling involved in cardiac conduction; response to glycoside; ion transport; memory; cellular potassium ion homeostasis; potassium ion transport; ion transmembrane transport; ionotropic glutamate receptor signaling pathway; transport; regulation of cardiac muscle cell membrane potential; establishment or maintenance of transmembrane electrochemical gradient; cerebral cortex development; cellular response to retinoic acid; cellular response to thyroid hormone stimulus; regulation of resting membrane potential; regulation of presynaptic membrane potential; cellular response to amyloid-beta; neuron projection maintenance; potassium ion import across plasma membrane;
	Sources:Amigo / QuickGO
Orthologs
	478
	232975
	ENSG00000105409
	ENSMUSG00000040907
	P13637
	Q6PIC6
	NM_001256213; NM_001256214; NM_152296
	NM_001290469; NM_144921; NM_001374627
	NP_001243142; NP_001243143; NP_689509
	NP_001277398; NP_001361556
	Wikidata
View/Edit Human	View/Edit Mouse

Sodium/potassium-transporting ATPase subunit alpha-3 is an enzyme that in humans is encoded by the ATP1A3 gene.^[5]^[6]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000105409 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000040907 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Brashear A, Dobyns WB, de Carvalho Aguiar P, Borg M, Frijns CJ, Gollamudi S, Green A, Guimaraes J, Haake BC, Klein C, Linazasoro G, Münchau A, Raymond D, Riley D, Saunders-Pullman R, Tijssen MA, Webb D, Zaremba J, Bressman SB, Ozelius LJ (Mar 2007). "The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene". Brain. 130 (Pt 3): 828–35. doi:10.1093/brain/awl340. PMID 17282997.
^ "Entrez Gene: ATP1A3 ATPase, Na⁺/K⁺ transporting, alpha 3 polypeptide".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000105409 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000040907 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid17282997-5] Brashear A, Dobyns WB, de Carvalho Aguiar P, Borg M, Frijns CJ, Gollamudi S, Green A, Guimaraes J, Haake BC, Klein C, Linazasoro G, Münchau A, Raymond D, Riley D, Saunders-Pullman R, Tijssen MA, Webb D, Zaremba J, Bressman SB, Ozelius LJ (Mar 2007). "The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene". Brain. 130 (Pt 3): 828–35. doi:10.1093/brain/awl340. PMID 17282997.

[entrez-6] "Entrez Gene: ATP1A3 ATPase, Na⁺/K⁺ transporting, alpha 3 polypeptide".

ATP1A3 information

and 14 Related for: ATP1A3 information

ATP1A3

Flunarizine

Dystonia

Alternating hemiplegia of childhood

CAPOS syndrome

Channelopathy

Alternating hemiplegia

ATPase

List of genetic disorders

Chromosome 19

Development of the cerebral cortex

Jared Roach

Allison Brashear

List of OMIM disorder codes