• Gene id: 825

Gene Summary

• Gene Symbol: CAPN3   Gene   UCSC   Ensembl
• Aliases: CANP3, CANPL3, LGMD2, LGMD2A, LGMDD4, LGMDR1, nCL-1, p94
• Gene name: calpain 3
• Alternate names: calpain-3, calpain p94, large [catalytic] subunit, calpain, large polypeptide L3, muscle-specific calcium-activated neutral protease 3 large subunit, new calpain 1,
• Gene location: 15q15.1 (103562813: 103556543)     Exons: 3     NC_000014.9
• Gene summary(Entrez): 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 bind
• OMIM: 114240

Protein Summary

• Protein general information: P20807  
  • Name: Calpain 3 (EC 3.4.22.54) (Calcium activated neutral proteinase 3) (CANP 3) (Calpain L3) (Calpain p94) (Muscle specific calcium activated neutral protease 3) (New calpain 1) (nCL 1)
  • Length: 821  
  • Mass: 94254
  • Tissue specificity: Isoform I is skeletal muscle specific.
• Sequence:

  MPTVISASVAPRTAAEPRSPGPVPHPAQSKATEAGGGNPSGIYSAIISRNFPIIGVKEKTFEQLHKKCLEKKVLY
  VDPEFPPDETSLFYSQKFPIQFVWKRPPEICENPRFIIDGANRTDICQGELGDCWFLAAIACLTLNQHLLFRVIP
  HDQSFIENYAGIFHFQFWRYGEWVDVVIDDCLPTYNNQLVFTKSNHRNEFWSALLEKAYAKLHGSYEALKGGNTT
  EAMEDFTGGVAEFFEIRDAPSDMYKIMKKAIERGSLMGCSIDDGTNMTYGTSPSGLNMGELIARMVRNMDNSLLQ
  DSDLDPRGSDERPTRTIIPVQYETRMACGLVRGHAYSVTGLDEVPFKGEKVKLVRLRNPWGQVEWNGSWSDRWKD
  WSFVDKDEKARLQHQVTEDGEFWMSYEDFIYHFTKLEICNLTADALQSDKLQTWTVSVNEGRWVRGCSAGGCRNF
  PDTFWTNPQYRLKLLEEDDDPDDSEVICSFLVALMQKNRRKDRKLGASLFTIGFAIYEVPKEMHGNKQHLQKDFF
  LYNASKARSKTYINMREVSQRFRLPPSEYVIVPSTYEPHQEGEFILRVFSEKRNLSEEVENTISVDRPVKKKKTK
  PIIFVSDRANSNKELGVDQESEEGKGKTSPDKQKQSPQPQPGSSDQESEEQQQFRNIFKQIAGDDMEICADELKK
  VLNTVVNKHKDLKTHGFTLESCRSMIALMDTDGSGKLNLQEFHHLWNKIKAWQKIFKHYDTDQSGTINSYEMRNA
  VNDAGFHLNNQLYDIITMRYADKHMNIDFDSFICCFVRLEGMFRAFHAFDKDGDGIIKLNVLEWLQLTMYA

• Structural information:
  • Protein Domains: (74..41-)
    (/note="Calpain-catalytic)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00239-)
    (649..68-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (692..72-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-Pro-)
  • Interpro: IPR033883  IPR022684  IPR022682  IPR022683  IPR036213   IPR029531  IPR011992  IPR018247  IPR002048  IPR038765  IPR000169  IPR001300  
  • Prosite: PS50203 PS00018 PS50222 PS00139
  • CDD: cd00214 cd00044
  • PDB: 1Y9V 4OKH 6BDT 6BGP 6BJD 6BKJ
  • PDBsum: 1Y9V 4OKH 6BDT 6BGP 6BJD 6BKJ
  • STRING: ENSP00000380349
• Other Databases: GeneCards:  CAPN3  Malacards:  CAPN3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004198	calcium-dependent cysteine-type endopeptidase activity	IBA	NOT|molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0006508	proteolysis	IBA	biological process
GO:0043066	negative regulation of apoptotic process	IBA	biological process
GO:1990092	calcium-dependent self proteolysis	IDA	biological process
GO:0031648	protein destabilization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0030163	protein catabolic process	IMP	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0045214	sarcomere organization	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0008234	cysteine-type peptidase activity	TAS	molecular function
GO:0005622	intracellular	TAS	cellular component
GO:0007517	muscle organ development	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071472	cellular response to salt stress	IEA	biological process
GO:0071277	cellular response to calcium ion	IEA	biological process
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0045862	positive regulation of proteolysis	IEA	biological process
GO:0043122	regulation of I-kappaB kinase/NF-kappaB signaling	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0032991	protein-containing complex	IEA	cellular component
GO:0031402	sodium ion binding	IEA	molecular function
GO:0014718	positive regulation of satellite cell activation involved in skeletal muscle regeneration	IEA	biological process
GO:0008307	structural constituent of muscle	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0072657	protein localization to membrane	IEA	biological process
GO:0070315	G1 to G0 transition involved in cell differentiation	IEA	biological process
GO:0065003	protein-containing complex assembly	IEA	biological process
GO:0061061	muscle structure development	IEA	biological process
GO:0060090	molecular adaptor activity	IEA	molecular function
GO:0051281	positive regulation of release of sequestered calcium ion into cytosol	IEA	biological process
GO:0045661	regulation of myoblast differentiation	IEA	biological process
GO:0045214	sarcomere organization	IEA	biological process
GO:0030239	myofibril assembly	IEA	biological process
GO:0012501	programmed cell death	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0097264	self proteolysis	IDA	biological process
GO:0008233	peptidase activity	IDA	molecular function
GO:0006508	proteolysis	IDA	biological process
GO:0006508	proteolysis	IDA	biological process
GO:0055103	ligase regulator activity	IDA	molecular function
GO:0050790	regulation of catalytic activity	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0006508	proteolysis	IDA	biological process
GO:0006508	proteolysis	IDA	biological process
GO:0033234	negative regulation of protein sumoylation	IDA	biological process
GO:0003824	catalytic activity	IDA	molecular function
GO:0071472	cellular response to salt stress	ISS	biological process
GO:0071277	cellular response to calcium ion	ISS	biological process
GO:0046716	muscle cell cellular homeostasis	TAS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0045862	positive regulation of proteolysis	ISS	biological process
GO:0032991	protein-containing complex	ISS	cellular component
GO:0043122	regulation of I-kappaB kinase/NF-kappaB signaling	IMP	biological process
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0031432	titin binding	IPI	molecular function
GO:0014850	response to muscle activity	ISS	biological process
GO:0014718	positive regulation of satellite cell activation involved in skeletal muscle regeneration	ISS	biological process
GO:0005829	cytosol	ISS	cellular component
GO:0005509	calcium ion binding	ISS	molecular function
GO:0045214	sarcomere organization	ISS	biological process
GO:0030239	myofibril assembly	TAS	biological process
GO:0030239	myofibril assembly	ISS	biological process
GO:0030018	Z disc	ISS	cellular component
GO:0065003	protein-containing complex assembly	ISS	biological process
GO:0005886	plasma membrane	ISS	cellular component
GO:0005886	plasma membrane	ISS	cellular component
GO:0004198	calcium-dependent cysteine-type endopeptidase activity	TAS	molecular function
GO:0004198	calcium-dependent cysteine-type endopeptidase activity	ISS	molecular function
GO:0004198	calcium-dependent cysteine-type endopeptidase activity	ISS	molecular function
GO:0051592	response to calcium ion	ISS	biological process
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IMP	biological process
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process
GO:0031432	titin binding	IPI	molecular function
GO:0031402	sodium ion binding	ISS	molecular function
GO:0030315	T-tubule	ISS	cellular component
GO:0008307	structural constituent of muscle	ISS	molecular function
GO:0007517	muscle organ development	TAS	biological process
GO:0072657	protein localization to membrane	ISS	biological process
GO:0061061	muscle structure development	ISS	biological process
GO:0051281	positive regulation of release of sequestered calcium ion into cytosol	ISS	biological process
GO:0060090	molecular adaptor activity	ISS	molecular function
GO:0030016	myofibril	ISS	cellular component
GO:0006915	apoptotic process	TAS	biological process

Diseases

Associated diseases	References
Limb-girdle muscular dystrophy	KEGG:H00593
Calpainopathy	KEGG:H00592
Limb-girdle muscular dystrophy	KEGG:H00593
Calpainopathy	KEGG:H00592
Muscular dystrophy	PMID:9150160
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray