ATP1B1

Chr 1Multi

ATPase Na+/K+ transporting subunit beta 1

Also known as: ATP1B

NCBI Gene: 481 ENSG00000143153 UniProt: P05026 OMIM: 182330

This gene encodes the beta-1 subunit of Na+/K+-ATPase, which regulates the number of sodium pumps transported to the plasma membrane and is essential for maintaining electrochemical gradients across cell membranes. ATP1B1 is associated with blood pressure regulation as a quantitative trait locus with multifactorial inheritance. The gene is highly constrained against loss-of-function variants (pLI 0.999, LOEUF 0.153), suggesting intolerance to haploinsufficiency.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

MultiLOEUF 0.151 OMIM phenotype

Clinical Summary— ATP1B1

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.

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ClinVar Variants

27 VUS of 49 total submissions

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Clinical Trials

1 active or recruiting trial — potential therapeutic options may be available

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

LoF intolerant — likely haploinsufficient

LoF Constraint?

0.15LOEUF

pLI 0.999

Z-score 4.10

OE 0.00 (0.00–0.15)

Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?

2.00Z-score

OE missense 0.57 (0.48–0.67)

97 obs / 170.6 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.00 (0.00–0.15)

0≤0.351.4

Missense OE?0.57 (0.48–0.67)

0≤0.61.4

Synonymous OE?1.00

0≤1.21.6

LoF obs/exp: 0 / 19.5Missense obs/exp: 97 / 170.6Syn Z: -0.01

ClinVar Variant Classifications

49 submitted variants in ClinVar

ClinVar

Classification Summary

VUS27

Likely Benign6

Benign4

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0	0
Likely Pathogenic	0	0	0	0	0
VUS	1	24	2	0	27
Likely Benign	0	2	0	4	6
Benign	0	0	1	3	4
Total	1	26	3	7	37

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

20 pathogenic / likely-pathogenic (of 24) ClinVar copy-number / structural variants overlap ATP1B1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →