Hs04542432_cn

• Gene Symbol: ATP1B1
• Assay Reference Genome Location: Chr.1:169119481 on build GRCh38
• Cytoband: 1q24.2

Target Gene Details

• Entrez Gene ID: 481
• Gene Name: ATPase Na+/K+ transporting subunit beta 1
• Gene Aliases: ATP1B
• Location: Chr.1:169106709-169132722 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP1B1	NM_001677.3			NP_001668.1
	AK290181.1
	AK296059.1
	AK316043.1
	AY545986.1
	BC000006.2			AAH00006.1
	BQ934151.1
	BT009787.1			AAP88789.1
	CR407616.1			CAG28544.1
	U16799.1			AAC50132.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv22143	Chr.1:169090390 - 169652030 on Build GRCh38	Gain+Loss	ATP1B1 LOC101928596 F5 SLC19A2 CCDC181 NME7 SELP BLZF1
nsv831858	Chr.1:169053145 - 169209830 on Build GRCh38	Gain	ATP1B1 LOC101928596 LINC00970 NME7

More Information

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

Panther Classification:

Molecular Function -

primary active transporter

Gene Ontology Categories:

Process(es)

response to hypoxia
positive regulation of defense response to virus by host
cellular calcium ion homeostasis
cellular sodium ion homeostasis
cell adhesion
potassium ion import
establishment or maintenance of transmembrane electrochemical gradient
regulation of gene expression
regulation of cardiac muscle contraction by calcium ion signaling
cellular potassium ion homeostasis
positive regulation of ATPase activity
ion transmembrane transport
sodium ion export from cell
protein transport into plasma membrane raft
ATP metabolic process
protein stabilization
leukocyte migration
relaxation of cardiac muscle
cardiac muscle contraction
protein localization to plasma membrane
membrane repolarization
membrane repolarization during cardiac muscle cell action potential
cell communication by electrical coupling involved in cardiac conduction
ATP hydrolysis coupled transmembrane transport
mitophagy in response to mitochondrial depolarization
xenophagy
positive regulation of potassium ion transmembrane transporter activity
positive regulation of sodium ion export from cell
positive regulation of calcium:sodium antiporter activity
positive regulation of potassium ion import
regulation of cardiac conduction
potassium ion import across plasma membrane

Function(s)

ATPase activator activity
sodium:potassium-exchanging ATPase activity
protein binding
ATP binding
protein C-terminus binding
drug binding
ATPase activity
MHC class II protein complex binding
potassium ion binding
sodium ion binding
ATPase binding