GENE REFERENCE / HGNC:799

ATP1A1

ATPase Na+/K+ transporting subunit alpha 1

protein-coding gene1p13.1Gene information

What does this gene do?

The ATP1A1 gene provides instructions for making one part (the alpha-1 subunit) of a protein pump known as a Na⁺/K⁺ ATPase. This protein uses energy from a molecule called adenosine triphosphate (ATP) to transport charged atoms (ions) into and out of cells. Specifically, the protein pumps sodium ions (Na⁺) out of cells and potassium ions (K⁺) into cells.

Na⁺/K⁺ ATPases that include the alpha-1 subunit are found in many types of cells, although the pumps appear to play a particularly important role in the adrenal glands, which are small hormone-producing glands located on top of each kidney. In the adrenal glands, the flow of sodium and potassium ions helps regulate the production of the hormone aldosterone, which controls blood pressure by maintaining proper salt and fluid levels in the body.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-03-07. Source review: 2017-07.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
Charcot-Marie-tooth disease, axonal, type 2DDMONDO:0054833 · Evaluated 2026-07-29	Autosomal dominant	DefinitiveCharcot-Marie-Tooth Disease Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 1,005
Submissions for variants in or overlapping this gene: 1,302
Submissions explicitly reporting this gene: 1,271
Alleles reported pathogenic / likely pathogenic: 28
VariationIDs with uncertain significance: 388
VariationIDs with conflicting classifications: 13

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about ATP1A1?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 28 alleles in ATP1A1 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in ATP1A1.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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