CAPN1 Gene Summary [Human]

The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 1. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]

Details

Type
Protein Coding
Official Symbol
CAPN1
Official Name
calpain 1 [Source:HGNC Symbol;Acc:HGNC:1476]
Ensembl ID
ENSG00000014216
Bio databases IDs NCBI: 823 Ensembl: ENSG00000014216
Aliases calpain 1
Synonyms CALCIUM ACTIVATED NEUTRAL PROTEASE, Calpain-1, CALPAIN I, CANP, CANP 1, CANPL1, Capa-1, MU-CALPAIN, mu-calpin, muCANP, muCL, SPG76
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CAPN1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • The penta-EF hand (PEF) family
  • Calpain family cysteine protease
  • cytoskeletal protein binding
  • calpain
  • peptidase
  • calcium ion binding
  • enzyme binding
  • EFh
  • protein binding
  • Calpain_III
  • CysPc

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • Alzheimer disease
  • diabetes mellitus
  • autosomal recessive spastic paraplegia type 76
  • atopic dermatitis
  • late-phase allergic reaction
  • neurodegeneration
  • thrombosis
  • streptozotocin induced type1 diabetes
regulated by
regulates
role in cell
  • autophagy in
  • expression in
  • apoptosis
  • proliferation
  • formation
  • phosphorylation in
  • growth
  • activation in
  • production in
  • migration

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • glutaminergic synapse
  • cornified envelope
  • ficolin-1-rich granule lumen
  • presynaptic regions
  • Extracellular Space
  • postsynaptic region
  • cellular membrane
  • Nucleus
  • Plasma Membrane
  • lysosome
  • Golgi Apparatus
  • Mitochondria
  • cytosol
  • mitochondrial intermembrane space
  • neurites
  • perikaryon
  • axons
  • postsynaptic density
  • dendritic branches
  • apical processes
  • cytosolic fraction

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human CAPN1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • self proteolysis
  • mammary gland involution
  • receptor catabolic process
  • regulation of catalytic activity
  • positive regulation of cell proliferation
  • proteolysis
  • regulation of macroautophagy
  • regulation of N-methyl-D-aspartate selective glutamate receptor activity

Cellular Component

Where in the cell the gene product is active
  • cornified envelope
  • extracellular vesicular exosome
  • focal adhesion
  • cytoplasm
  • membrane
  • mitochondrion
  • cytosol
  • extracellular region
  • plasma membrane
  • lysosome

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • calcium ion binding
  • calcium-dependent cysteine-type endopeptidase activity
  • peptidase activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.