Hs00455502_cn

• Gene Symbol: ATP1A3
• Assay Reference Genome Location: Chr.19:41976583 on build GRCh38
• Cytoband: 19q13.2

Target Gene Details

• Entrez Gene ID: 478
• Gene Name: ATPase Na+/K+ transporting subunit alpha 3
• Gene Aliases: AHC2, ATP1A1, CAPOS, DYT12, RDP
• Location: Chr.19:41966582-41994276 on Build GRCh38
• Assay Gene Location: Overlaps Intron 15 - Exon 16

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP1A3	NM_001256213.1			NP_001243142.1
	NM_001256214.1			NP_001243143.1
	NM_152296.4			NP_689509.1
	AK054736.1
	AK094628.1
	AK122693.1
	AK223569.1			BAD97289.1
	AK293784.1
	AK295078.1
	AK295833.1
	AK296557.1
	AK307921.1
	AK316069.1
	BC009282.2			AAH09282.1
	BC009394.2			AAH09394.1
	BC015566.2			AAH15566.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv520239	Chr.19:41853387 - 42426852 on Build GRCh38	Loss	CD79A ATP1A3 PRR19 MIR6797 RPS19 GRIK5 CNFN RABAC1 LIPE-AS1 GSK3A TMEM145 MEGF8 LOC101930071 ZNF574 ERF MIR8077 LOC390937 MIR4323 CIC LOC100505585 POU2F2 PAFAH1B3 LIPE ZNF526 DEDD2 ARHGEF1 LOC100505622
nsv953580	Chr.19:41888230 - 41997948 on Build GRCh38	Deletion	RABAC1 ATP1A3 LOC390937 LOC100505585 ARHGEF1
dgv3550n100	Chr.19:41916194 - 42001892 on Build GRCh38	Gain	RABAC1 ATP1A3 LOC390937 LOC100505585 GRIK5
nsv522854	Chr.19:41613927 - 42426852 on Build GRCh38	Gain	CD79A ATP1A3 PRR19 MIR6797 RPS19 CEACAM7 GRIK5 CNFN RABAC1 LIPE-AS1 GSK3A TMEM145 MEGF8 CEACAM5 LOC101930071 CEACAM6 ZNF574 ERF MIR8077 CEACAM4 LOC390937 MIR4323 CIC LOC100505585 POU2F2 LYPD4 PAFAH1B3 LIPE CEACAM3 ZNF526 DMRTC2 DEDD2 ARHGEF1 LOC100505622

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

primary active transporter

Gene Ontology Categories:

Process(es)

cellular sodium ion homeostasis
memory
adult locomotory behavior
visual learning
potassium ion import
establishment or maintenance of transmembrane electrochemical gradient
ATP hydrolysis coupled proton transport
cellular potassium ion homeostasis
ion transmembrane transport
ionotropic glutamate receptor signaling pathway
sodium ion export from cell
response to drug
cardiac muscle contraction
cellular response to steroid hormone stimulus
regulation of cardiac muscle cell membrane potential
cell communication by electrical coupling involved in cardiac conduction
response to glycoside
regulation of cardiac conduction

Function(s)

sodium:potassium-exchanging ATPase activity
ATP binding
D1 dopamine receptor binding
heparan sulfate proteoglycan binding
metal ion binding
chaperone binding
sodium:potassium-exchanging ATPase activity involved in regulation of cardiac muscle cell membrane potential
steroid hormone binding