ATP1B1
ATPase Na+/K+ transporting subunit beta 1
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. [provided by RefSeq, Mar 2010]
Known Variants23 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs144750047 | 1:169,076,067 | C/A | — | benign |
| rs753332289 | 1:169,076,112 | C/T | — | likely benign |
| rs1657604508 | 1:169,076,174 | G/C | — | uncertain significance |
| rs774346745 | 1:169,080,645 | C/T | — | likely benign |
| rs764962595 | 1:169,080,727 | G/A | — | uncertain significance |
| rs144621395 | 1:169,080,732 | G/A | — | benign |
| rs1040503 | 1:169,086,221 | A/C | — | — |
| rs1200150 | 1:169,088,337 | A/G | — | — |
| rs61742560 | 1:169,094,216 | A/G | — | benign |
| rs2526201869 | 1:169,094,232 | A/G | — | uncertain significance |
| rs769851426 | 1:169,094,277 | G/A | — | likely benign |
| rs144685960 | 1:169,096,601 | G/A | — | benign |
| rs10919070 | 1:169,099,037 | A/C | downstream gene variant | — |
| rs556615808 | 1:169,099,228 | A/C | — | uncertain significance |
| rs371385406 | 1:169,099,263 | T/A | — | uncertain significance |
| rs61803314 | 1:169,099,280 | A/C | — | likely benign |
| rs2526216132 | 1:169,099,291 | A/G | — | uncertain significance |
| rs10919071 | 1:169,099,483 | A/G | downstream gene variant | — |
| rs12406341 | 1:169,099,795 | G/T | downstream gene variant | — |
| rs772382642 | 1:169,100,662 | G/A | — | uncertain significance |
| rs760933888 | 1:169,100,671 | A/G | — | uncertain significance |
| rs1442610738 | 1:169,100,689 | A/G | — | uncertain significance |
| rs145238933 | 1:169,100,718 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.