CAPNS1

Chr 19q13.12

calpain small subunit 1

Aliases:: CANP, CANPS, 30K, CDPS
MANE:: ENST00000246533.8

OMIM: 114170 ↗NCBI: 826 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

CAPNS1 · P04632

v62025-08-01

Predicted Aligned Error matrix for CAPNS1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

75.3/ 100

Confident

268 residues

Confidence breakdown

Very high(≥ 90)53%
Confident(70–90)13%
Low(50–70)7%
Very low(< 50)27%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Pulmonary arterial hypertension
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

pulmonary hypertension, primary, 6
0.46
Alzheimer disease
0.37
neurodegenerative disease
0.28
nasopharyngeal carcinoma
0.11
ovarian carcinoma
0.08
esophageal squamous cell carcinoma
0.08
systemic sclerosis
0.08
neoplasm
0.08
intrahepatic cholangiocarcinoma
0.08
type 2 diabetes mellitus
0.08

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

Protein function (UniProt)

Calpain small subunit 1

Regulatory subunit of the calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. Essential for embryonic development (By similarity)