CAPN1

Chr 11q13.1

calpain 1

Aliases:: muCANP, muCL, CANP, CANPL1
MANE:: ENST00000279247.11

OMIM: 114220 ↗NCBI: 823 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

CAPN1 · P07384

v62025-08-01

Predicted Aligned Error matrix for CAPN1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

89.9/ 100

Confident

714 residues

Confidence breakdown

Very high(≥ 90)68%
Confident(70–90)28%
Low(50–70)3%
Very low(< 50)2%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Adult onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Autosomal recessive spastic paraplegia type 76
0.78
Alzheimer disease
0.38
neurodegenerative disease
0.33
hereditary spastic paraplegia 11
0.27
hereditary disease
0.19
neoplasm
0.10
melanoma
0.08
Cholecystitis
0.07
autosomal dominant macrothrombocytopenia
0.07
pulmonary arterial hypertension
0.06

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

Protein function (UniProt)

Calpain-1 catalytic subunit

Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction (PubMed:19617626, PubMed:21531719, PubMed:2400579). Proteolytically cleaves CTBP1 at 'Asn-375', 'Gly-387' and 'His-409' (PubMed:23707407). Cleaves and activates caspase-7 (CASP7) (PubMed:19617626)