CAPN1: Calpain 1 Gene
Genetic and Functional Insights into CAPN1
Gene Information Card
| Symbol | CAPN1 |
|---|---|
| Full Name | Calpain 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 823 ncbi.nlm.nih.gov/gene/823 |
| Ensembl ID | ENSG00000016402 |
| UniProt ID | P07384 |
| OMIM ID | 114220 |
| HGNC ID | 1476 |
| Aliases | CANP1, CANPL1, mu-calpain, calpain-1 large subunit |
Description
CAPN1 encodes the large catalytic subunit of calpain 1, a calcium-dependent cysteine protease. Calpain 1 is involved in various cellular processes including cytoskeletal remodeling, cell signaling, and apoptosis. Mutations in CAPN1 are associated with autosomal recessive spastic paraplegia type 76 (SPG76), characterized by progressive spasticity and neurodegeneration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spastic paraplegia 76 (SPG76) | Loss-of-function mutations impair calpain 1 activity, leading to axonal degeneration | ClinVar, OMIM |
| Autosomal recessive cerebellar ataxia | Disrupted proteolysis of neuronal substrates | ClinVar |
| Neurodegeneration with brain iron accumulation (NBIA) | Altered calcium homeostasis and protein aggregation | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Skeletal muscle | 8.3 | Medium |
| Heart | 7.1 | Medium |
| Liver | 4.2 | Low |
| Kidney | 5.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| HeLa (cervical carcinoma) | 9.8 | Medium expression |
| HEK293 (embryonic kidney) | 6.5 | Medium expression |
| HepG2 (hepatocellular carcinoma) | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.635C>T (p.Pro212Leu) | Missense | Rare | Loss of proteolytic activity |
| c.1285C>T (p.Arg429*) | Nonsense | Rare | Premature truncation, loss of function |
| c.1946_1947del (p.Glu649Valfs*12) | Frameshift | Rare | Loss of function via nonsense-mediated decay |
Mutation functional classification
Loss of Function (LOF)
Most CAPN1 mutations cause loss of function, reducing calpain 1 activity and leading to neurodegeneration.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Calpain proteolysis pathway (Reactome: R-HSA-5625740)
• Apoptosis (KEGG: hsa04210)
• Alzheimer disease (KEGG: hsa05010)
Protein Summary
Calpain 1 (mu-calpain) is a heterodimeric calcium-dependent cysteine protease composed of a large catalytic subunit (encoded by CAPN1) and a small regulatory subunit (CAPNS1). It cleaves specific substrates involved in cytoskeletal dynamics, cell adhesion, and signal transduction. Dysregulation of calpain 1 activity is implicated in neurodegenerative disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CAPN14 Knockout HCT 116 Cell Line | EDJ-KQ77238 | Human | 440854 | Details Get a Quote |
| CAPN13 Knockout HCT 116 Cell Line | EDJ-KQ74756 | Human | 92291 | Details Get a Quote |
| CAPN11 Knockout HCT 116 Cell Line | EDJ-KQ72524 | Human | 11131 | Details Get a Quote |
| CAPN14 Knockout A-549 Cell Line | EDJ-KQ68877 | Human | 440854 | Details Get a Quote |
| CAPN13 Knockout A-549 Cell Line | EDJ-KQ66331 | Human | 92291 | Details Get a Quote |
| CAPN11 Knockout A-549 Cell Line | EDJ-KQ64075 | Human | 11131 | Details Get a Quote |
| CAPN14 Knockout HeLa Cell Line | EDJ-KQ60409 | Human | 440854 | Details Get a Quote |
| CAPN12 Knockout HeLa Cell Line | EDJ-KQ58594 | Human | 147968 | Details Get a Quote |
| CAPN13 Knockout HeLa Cell Line | EDJ-KQ57833 | Human | 92291 | Details Get a Quote |
| CAPN11 Knockout HeLa Cell Line | EDJ-KQ55578 | Human | 11131 | Details Get a Quote |
| CAPN12 Knockout HCT 116 Cell Line | EDJ-KQ38249 | Human | 147968 | Details Get a Quote |
| CAPN12 Knockout A-549 Cell Line | EDJ-KQ38248 | Human | 147968 | Details Get a Quote |
| CAPN10 Knockout HeLa Cell Line | EDJ-KQ32345 | Human | 11132 | Details Get a Quote |
| CAPN10 Knockout HCT 116 Cell Line | EDJ-KQ32344 | Human | 11132 | Details Get a Quote |
| CAPN10 Knockout A-549 Cell Line | EDJ-KQ32343 | Human | 11132 | Details Get a Quote |
