CAPN3

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Calpain 3, (p94)
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols CAPN3 ; CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94
External IDs OMIM114240 MGI107437 HomoloGene52 GeneCards: CAPN3 Gene
EC number 3.4.22.54
RNA expression pattern
PBB GE CAPN3 gnf1h02293 at tn.png
PBB GE CAPN3 gnf1h06575 at tn.png
PBB GE CAPN3 gnf1h08766 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 825 12335
Ensembl ENSG00000092529 ENSMUSG00000079110
UniProt P20807 Q64691
RefSeq (mRNA) NM_000070 NM_001109761
RefSeq (protein) NP_000061 NP_001103231
Location (UCSC) Chr 15:
42.64 – 42.7 Mb
Chr 2:
120.46 – 120.5 Mb
PubMed search [1] [2]

Calpain-3 is a protein that in humans is encoded by the CAPN3 gene.[1][2]

Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed.[3]

In melanocytic cells CAPN3 gene expression may be regulated by MITF.[4]

Interactions[edit]

CAPN3 has been shown to interact with Titin.[5][6]

References[edit]

  1. ^ Sorimachi H, Imajoh-Ohmi S, Emori Y, Kawasaki H, Ohno S, Minami Y, Suzuki K (December 1989). "Molecular cloning of a novel mammalian calcium-dependent protease distinct from both m- and mu-types. Specific expression of the mRNA in skeletal muscle". J Biol Chem 264 (33): 20106–11. PMID 2555341. 
  2. ^ Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C, et al. (May 1995). "Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A". Cell 81 (1): 27–40. doi:10.1016/0092-8674(95)90368-2. PMID 7720071. 
  3. ^ "Entrez Gene: CAPN3 calpain 3, (p94)". 
  4. ^ Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. 
  5. ^ Ono, Y; Shimada H; Sorimachi H; Richard I; Saido T C; Beckmann J S; Ishiura S; Suzuki K (July 1998). "Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A". J. Biol. Chem. (UNITED STATES) 273 (27): 17073–8. doi:10.1074/jbc.273.27.17073. ISSN 0021-9258. PMID 9642272. 
  6. ^ Sorimachi, H; Kinbara K; Kimura S; Takahashi M; Ishiura S; Sasagawa N; Sorimachi N; Shimada H; Tagawa K; Maruyama K (December 1995). "Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence". J. Biol. Chem. (UNITED STATES) 270 (52): 31158–62. doi:10.1074/jbc.270.52.31158. ISSN 0021-9258. PMID 8537379. 

Further reading[edit]

External links[edit]