ATP1A1 Chromosome 1

ATPase Na+/K+ transporting subunit alpha 1

31 variants 31 Health Risk

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What This Gene Does

The protein encoded by this gene belongs to the family of P-type cation transport ATPases, 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 catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 1 subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

Gene Info

Gene Group

ATPase Na+/K+ transporting subunits

Locus Type

gene with protein product

Location

1p13.1

Ensembl

ENSG00000163399

Associated Conditions (12)

Charcot-Marie-tooth disease

axonal

type 2DD

Charcot-Marie-Tooth disease type 2A2

Hypomagnesemia

seizures

and intellectual disability 2

Inborn genetic diseases

Intellectual disability

ATP1A1-related disorder

Marfanoid habitus and intellectual disability

Aldosterone-producing adrenal cortex adenoma

Key Variants

RS1553192783

Conflicting classifications of pathogenicity

Charcot-Marie-tooth disease, axonal, type 2DD

Health Risk

RS2101066038

Conflicting classifications of pathogenicity

Hypomagnesemia, seizures, and intellectual disability 2

Health Risk

RS2525861491

Conflicting classifications of pathogenicity

Charcot-Marie-tooth disease, axonal, type 2DD

Health Risk

RS754714789

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS756724088

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS764054683

Conflicting classifications of pathogenicity

Health Risk

RS765069962

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS775005099

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS780391814

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS945278904

Conflicting classifications of pathogenicity

Hypomagnesemia, seizures, and intellectual disability 2

Health Risk

RS983463553

Conflicting classifications of pathogenicity

Health Risk

RS140135222

Likely pathogenic

Health Risk

All Variants (31)

RSID	Category	Clinical Significance	Conditions
RS1553192783	Health Risk	Conflicting classifications of pathogenicity	Charcot-Marie-tooth disease, axonal, type 2DD
RS2101066038	Health Risk	Conflicting classifications of pathogenicity	Hypomagnesemia, seizures, and intellectual disability 2
RS2525861491	Health Risk	Conflicting classifications of pathogenicity	Charcot-Marie-tooth disease, axonal, type 2DD
RS754714789	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS756724088	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS764054683	Health Risk	Conflicting classifications of pathogenicity	—
RS765069962	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS775005099	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS780391814	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS945278904	Health Risk	Conflicting classifications of pathogenicity	Hypomagnesemia, seizures, and intellectual disability 2
RS983463553	Health Risk	Conflicting classifications of pathogenicity	ATP1A1-related disorder, ATP1A1-related disorder
RS140135222	Health Risk	Likely pathogenic	—
RS1401759980	Health Risk	Likely pathogenic	Marfanoid habitus and intellectual disability, Marfanoid habitus and intellectual disability
RS1553192091	Health Risk	Likely pathogenic	Charcot-Marie-tooth disease, axonal, type 2DD
RS1653241392	Health Risk	Likely pathogenic	Charcot-Marie-tooth disease, axonal, type 2DD
RS1653448255	Health Risk	Likely pathogenic	Charcot-Marie-tooth disease, axonal, type 2DD
RS2101045655	Health Risk	Likely pathogenic	Charcot-Marie-tooth disease, axonal, type 2DD
RS2101055022	Health Risk	Likely pathogenic	Charcot-Marie-tooth disease, axonal, type 2DD
RS2101066445	Health Risk	Likely pathogenic	—
RS2525834257	Health Risk	Likely pathogenic	Hypomagnesemia, seizures, and intellectual disability 2
RS781629728	Health Risk	Likely pathogenic	Hypomagnesemia, seizures, and intellectual disability 2
RS11540945	Health Risk	Pathogenic	Aldosterone-producing adrenal cortex adenoma, Aldosterone-producing adrenal cortex adenoma
RS1553190285	Health Risk	Pathogenic	Charcot-Marie-tooth disease, axonal, type 2DD
RS1557785499	Health Risk	Pathogenic	Hypomagnesemia, seizures, and intellectual disability 2
RS1557785503	Health Risk	Pathogenic	Hypomagnesemia, seizures, and intellectual disability 2
RS1570980551	Health Risk	Pathogenic	Hypomagnesemia, seizures, and intellectual disability 2
RS724160008	Health Risk	Pathogenic	Aldosterone-producing adrenal cortex adenoma, Aldosterone-producing adrenal cortex adenoma
RS724160010	Health Risk	Pathogenic	Aldosterone-producing adrenal cortex adenoma, Aldosterone-producing adrenal cortex adenoma
RS1553192086	Health Risk	Pathogenic/Likely pathogenic	Charcot-Marie-tooth disease, axonal, type 2DD
RS2101052251	Health Risk	Pathogenic/Likely pathogenic	Charcot-Marie-tooth disease, axonal, type 2DD
RS2101066493	Health Risk	Pathogenic/Likely pathogenic	Inborn genetic diseases, Inborn genetic diseases