ATP2A1

Chr 16p11.2

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1

Aliases:: SERCA1
MANE:: ENST00000395503.9

OMIM: 108730 ↗NCBI: 487 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

ATP2A1 · O14983

v62025-08-01

Predicted Aligned Error matrix for ATP2A1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

88.7/ 100

Confident

1,001 residues

Confidence breakdown

Very high(≥ 90)56%
Confident(70–90)39%
Low(50–70)4%
Very low(< 50)1%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Skeletal Muscle Channelopathies
BIALLELIC, autosomal or pseudoautosomal
Skeletal muscle channelopathy
BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Brody myopathy
0.77
Abnormality of the skeletal system
0.29
metabolic dysfunction-associated steatotic liver disease
0.25
obesity disorder
0.20
hereditary disease
0.19
intelligence
0.17
type 2 diabetes mellitus
0.16
risk-taking behaviour
0.16
schizophrenia
0.13
smoking behavior
0.13

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

Protein function (UniProt)

Sarcoplasmic/endoplasmic reticulum calcium ATPase 1

Key regulator of striated muscle performance by acting as the major Ca(2+) ATPase responsible for the reuptake of cytosolic Ca(2+) into the sarcoplasmic reticulum. Catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen (By similarity). Contributes to calcium sequestration involved in muscular excitation/contraction (PubMed:10914677)