CASQ1

Chr 1q23.2

calsequestrin 1

Aliases:: PDIB1, CSQ1
MANE:: ENST00000368078.8

OMIM: 114250 ↗NCBI: 844 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CASQ1 · P31415

v62025-08-01

Predicted Aligned Error matrix for CASQ1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

90.0/ 100

Very high

396 residues

Confidence breakdown

Very high(≥ 90)82%
Confident(70–90)6%
Low(50–70)3%
Very low(< 50)9%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Rhabdomyolysis and metabolic muscle disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Acute rhabdomyolysis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

myopathy due to calsequestrin and SERCA1 protein overload
0.63
myopathy, tubular aggregate, 1
0.60
tubular aggregate myopathy
0.50
hereditary disease
0.19
neutropenia
0.19
Decreased total leukocyte count
0.19
myopathy
0.13
amyotrophic lateral sclerosis
0.09
Congenital myasthenic syndromes
0.08
Emery-Dreifuss muscular dystrophy
0.07

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

Protein function (UniProt)

Calsequestrin-1

Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle (PubMed:28895244). Calcium ions are bound by clusters of acidic residues at the protein surface, often at the interface between subunits. Can bind around 80 Ca(2+) ions (PubMed:28895244). Regulates the release of lumenal Ca(2+) via the calcium release channel RYR1; this plays an important role in triggering muscle contraction. Negatively regulates store-operated Ca(2+) entry (SOCE) activity (PubMed:27185316)