ATP2B1

Chr 12q21.33

ATPase plasma membrane Ca2+ transporting 1

Aliases:: PMCA1
MANE:: ENST00000428670.8

OMIM: 108731 ↗NCBI: 490 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

ATP2B1 · P20020

v62025-08-01

Predicted Aligned Error matrix for ATP2B1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

74.6/ 100

Confident

1,220 residues

Confidence breakdown

Very high(≥ 90)21%
Confident(70–90)53%
Low(50–70)7%
Very low(< 50)19%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

intellectual developmental disorder, autosomal dominant 66
0.78
neurodevelopmental disorder
0.56
hereditary disease
0.51
hypertensive disorder
0.51
coronary artery disorder
0.46
myocardial infarction
0.44
essential hypertension
0.43
Abnormality of the skeletal system
0.42
alcohol drinking
0.41
prostate carcinoma
0.40

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Plasma membrane calcium-transporting ATPase 1

Catalyzes the hydrolysis of ATP coupled with the transport of calcium from the cytoplasm to the extracellular space thereby maintaining intracellular calcium homeostasis (PubMed:35358416). Plays a role in blood pressure regulation through regulation of intracellular calcium concentration and nitric oxide production leading to regulation of vascular smooth muscle cells vasoconstriction. Positively regulates bone mineralization through absorption of calcium from the intestine. Plays dual roles in osteoclast differentiation and survival by regulating RANKL-induced calcium oscillations in preosteoclasts and mediating calcium extrusion in mature osteoclasts (By similarity). Regulates insulin sensitivity through calcium/calmodulin signaling pathway by regulating AKT1 activation and NOS3 activation in endothelial cells (PubMed:29104511). May play a role in synaptic transmission by modulating calcium and proton dynamics at the synaptic vesicles