CAPN1 gene

calpain 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Calcium-regulated non-lysosomal thiol-protease which catalyze limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction.

From NCBI Gene:

  • Spastic paraplegia 76, autosomal recessive

Cytogenetic Location: 11q13, which is the long (q) arm of chromosome 11 at position 13

Molecular Location: base pairs 65,181,215 to 65,212,006 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11q13, which is the long (q) arm of chromosome 11 at position 13
  • CANP
  • CANP1
  • CANPL1
  • muCANP
  • muCL
  • SPG76