Gene: ATP1B1

Alternate names for this Gene: ATP1B

Gene Summary: The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 1 subunit. Alternatively spliced transcript variants encoding different isoforms have been described, but their biological validity is not known.

Gene is located in Chromosome: 1

Location in Chromosome : 1q24.2

Description of this Gene: ATPase Na+/K+ transporting subunit beta 1

Type of Gene: protein-coding

Gene: NME7

Alternate names for this Gene: CFAP67|MN23H7|NDK 7|NDK7|nm23-H7

Gene Summary: This gene encodes a member of the non-metastatic expressed family of nucleoside diphosphate kinases. Members of this family are enzymes that catalyzes phosphate transfer from nucleoside triphosphates to nucleoside diphosphates. This protein contains two kinase domains, one of which is involved in autophosphorylation and the other may be inactive. This protein localizes to the centrosome and functions as a component of the gamma-tubulin ring complex which plays a role in microtubule organization. Mutations in this gene may be associated with venous thromboembolism. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 1

Location in Chromosome : 1q24.2

Description of this Gene: NME/NM23 family member 7

Type of Gene: protein-coding

rs1138486 in ATP1B1;NME7 gene and QT interval feature (observable entity) PMID 29213071 2017 GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals.

PMID 30679814 2019 Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits.