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FLASH GENE

Symbol

ATP1A3

contributors: mct/npt - updated : 29-05-2024

HGNC name	ATPase, Na+/K+ transporting, alpha 3 polypeptide
HGNC id	801

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AHC2 alternating hemiplegia of childhood 2 CAPOS cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome DEE99 developmental and epileptic encephalopathy 99 DYT12 dystonia 12
Location	19q13.2      Physical location : 42.470.735 - 42.498.382
Synonym name	Na+/K+ ATPase 3
	sodium/potassium-transporting ATPase alpha-3 chain
	sodium pump subunit alpha-3
Synonym symbol(s)	MGC13276, RDP, AHC2, ATP1A1, CAPOS, DYT12
EC.number	3.6.1.37, 3.6.3.9

DNA

TYPE	functioning gene
STRUCTURE	27.69 kb     23 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_152296 23 - 3587 NP_689509 - 1013 - 2006 16630822 NM_001256214 23 - 3674 NP_001243143 - 1026 - 2006 16630822 NM_001256213 23 - 3504 NP_001243142 - 1024 - 2006 16630822

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Homo sapiens Nervous ganglia sensory ganglia dorsal root     Homo sapiens   nerve       specific Homo sapiens   spinal cord posterior horn       Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum cardiac myocardium   Homo sapiens Nervous central       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens

cell lineage
cell lines
fluid/secretion	lymph

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	E1-E2 ATPase
	haloacid dehalogenase-like hydrolase domain
	cation transporting ATPase
	C-terminus domain, of the alpha-subunit having a crucial role in the function of the Na+/K+-ATPase and a key impact of Na+ affinity in the pathophysiology of DYT12 (Blanco-Arias 2009)

HOMOLOGY

interspecies	ortholog to rattus atp1a3
	ortholog to murine Atp1a3

Homologene

FAMILY	cation transport ATPase (P-type) family
	type IIC subfamily

CATEGORY

receptor , transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,nucleus

basic FUNCTION	osmotic balance and cell volume stability
	neuronal receptor (for AGRN) activity
	is a target for phosphorylation and may participate in short term regulation of neuronal function
	role of ATP1A3 in the inhibitory synapse, and potential involvement of inhibitory synaptic dysfunction for the pathophysiology of dystonia
	plays a crucial role in both physiological and pathological conditions in the brain

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

active transport

text	Na+, K+ pump

PATHWAY

metabolism

signaling

a component

complexing with ATP1B3 and maybe others

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP

protein	binding to ATP1B3
	interacting with AGRN
	ATP1A3 and ATP1B2 are binding partners of retinoschisin (predominant role of Na/K-ATPase in anchoring retinoschisin to retinal cell surfaces)
	GPNMB promotes glioma growth via ATP1A1, ATP1A2, ATP1A3, ATP1A4

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DYT12 , AHC2 , CAPOS , DEE99

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neurology epilepsy   ATP1A3 regulators are putative targets for the rational design of antiepileptic therapie

ANIMAL & CELL MODELS