Hs07147611_cn

• Gene Symbol: ATP1A3
• Assay Reference Genome Location: Chr.19:41977184 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: Within Intron 15

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

More Information

• Set Membership: Intragenic, Intronic, 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