Homo sapiens Gene: CAPN3
Summary
InnateDB Gene IDBG-7659.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CAPN3
Gene Name calpain 3, (p94)
Synonyms CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94;
Species Homo sapiens
Ensembl Gene ENSG00000092529
Encoded Proteins
calpain 3, (p94)
calpain 3, (p94)
calpain 3, (p94)
calpain 3, (p94)
calpain 3, (p94)
calpain 3, (p94)
calpain 3, (p94)
calpain 3, (p94)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 15:42359500-42412318
Strand Forward strand
Band q15.1
Transcripts
ENST00000356316 ENSP00000348667
ENST00000318023 ENSP00000326281
ENST00000357568 ENSP00000350181
ENST00000349748 ENSP00000183936
ENST00000337571 ENSP00000336840
ENST00000397204 ENSP00000380387
ENST00000397200 ENSP00000380384
ENST00000397163 ENSP00000380349
ENST00000466222
ENST00000562199
ENST00000564503 ENSP00000457898
ENST00000565559 ENSP00000457878
ENST00000567817 ENSP00000456514
ENST00000568153 ENSP00000454937
ENST00000565274 ENSP00000457759
ENST00000569136 ENSP00000455254
ENST00000567071 ENSP00000456607
ENST00000569827 ENSP00000454379
ENST00000561817 ENSP00000456575
ENST00000565173
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 5 [view]
Protein-Protein 5 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0004198 calcium-dependent cysteine-type endopeptidase activity
GO:0004871 signal transducer activity
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0008233 peptidase activity
GO:0008234 cysteine-type peptidase activity
GO:0008307 structural constituent of muscle
GO:0031402 sodium ion binding
GO:0031432 titin binding
GO:0032947 protein complex scaffold
GO:0055103 ligase regulator activity
Biological Process
GO:0001896 autolysis
GO:0006461 protein complex assembly
GO:0006508 proteolysis
GO:0006915 apoptotic process
GO:0007165 signal transduction
GO:0007517 muscle organ development
GO:0014718 positive regulation of satellite cell activation involved in skeletal muscle regeneration
GO:0014850 response to muscle activity
GO:0030239 myofibril assembly
GO:0033234 negative regulation of protein sumoylation
GO:0043066 negative regulation of apoptotic process
GO:0043122 regulation of I-kappaB kinase/NF-kappaB signaling
GO:0045214 sarcomere organization
GO:0045661 regulation of myoblast differentiation
GO:0045862 positive regulation of proteolysis
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0046716 muscle cell cellular homeostasis
GO:0050790 regulation of catalytic activity
GO:0051092 positive regulation of NF-kappaB transcription factor activity
GO:0051281 positive regulation of release of sequestered calcium ion into cytosol
GO:0051592 response to calcium ion
GO:0061061 muscle structure development
GO:0070315 G1 to G0 transition involved in cell differentiation
GO:0071277 cellular response to calcium ion
GO:0071472 cellular response to salt stress
GO:0072657 protein localization to membrane
GO:0097264 self proteolysis
Cellular Component
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0030016 myofibril
GO:0030018 Z disc
GO:0030315 T-tubule
GO:0043234 protein complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL H3BUR3
UniProt Splice Variant
Entrez Gene 825
UniGene Hs.143261 Hs.733336
RefSeq NM_000070 NM_024344 NM_173087 NM_173088 NM_173089 NM_173090
HUGO HGNC:1480
OMIM 114240
CCDS CCDS10085 CCDS10086 CCDS32207 CCDS45245 CCDS45246
HPRD 00255
IMGT
EMBL AC012651
GenPept
RNA Seq Atlas 825