CAPN3
entrez
825
canonical
uniprot
P20807
canonical
ensembl
ENSG00000092529
resolver
ensp
ENSP00000183936
resolver
ensp
ENSP00000350181
resolver
ensp
ENSP00000380349
resolver
ensp
ENSP00000380384
resolver
ensp
ENSP00000380387
resolver
ensp
ENSP00000501303
resolver
genesymbol
CAPN3
resolver
genesymbol_syn
CANP3
resolver
genesymbol_syn
CANPL3
resolver
genesymbol_syn
NCL1
resolver
hgnc
HGNC:1480
resolver
uniprot
A0A0S2Z3E1
resolver
uniprot
A6H8K6
resolver
uniprot
Q7L4R0
resolver
uniprot
Q9BQC8
resolver
uniprot
Q9BTU4
resolver
uniprot
Q9Y5S6
resolver
uniprot
Q9Y5S7
resolver
uniprot_entry
A0A0S2Z3E1_HUMAN
resolver
uniprot_entry
CAN3_HUMAN
resolver
uniprot_sec
A6H8K6
resolver
uniprot_sec
Q7L4R0
resolver
uniprot_sec
Q9BQC8
resolver
uniprot_sec
Q9BTU4
resolver
uniprot_sec
Q9Y5S6
resolver
uniprot_sec
Q9Y5S7
resolver
activity_regulation
ACTIVITY REGULATION: Activated by micromolar concentrations of calcium and inhibited by calpastatin.
uniprot
proteins
amino_acid_sequence
MPTVISASVAPRTAAEPRSPGPVPHPAQSKATEAGGGNPSGIYSAIISRNFPIIGVKEKTFEQLHKKCLEKKVLYVDPEFPPDETSLFYSQKFPIQFVWKRPPEICENPRFIIDGANRTDICQGELGDCWFLAAIACLTLNQHLLFRVIPHDQSFIENYAGIFHFQFWRYGEWVDVVIDDCLPTYNNQLVFTKSNHRNEFWSALLEKAYAKLHGSYEALKGGNTTEAMEDFTGGVAEFFEIRDAPSDMYKIMKKAIERGSLMGCSIDDGTNMTYGTSPSGLNMGELIARMVRNMDNSLLQDSDLDPRGSDERPTRTIIPVQYETRMACGLVRGHAYSVTGLDEVPFKGEKVKLVRLRNPWGQVEWNGSWSDRWKDWSFVDKDEKARLQHQVTEDGEFWMSYEDFIYHFTKLEICNLTADALQSDKLQTWTVSVNEGRWVRGCSAGGCRNFPDTFWTNPQYRLKLLEEDDDPDDSEVICSFLVALMQKNRRKDRKLGASLFTIGFAIYEVPKEMHGNKQHLQKDFFLYNASKARSKTYINMREVSQRFRLPPSEYVIVPSTYEPHQEGEFILRVFSEKRNLSEEVENTISVDRPVKKKKTKPIIFVSDRANSNKELGVDQESEEGKGKTSPDKQKQSPQPQPGSSDQESEEQQQFRNIFKQIAGDDMEICADELKKVLNTVVNKHKDLKTHGFTLESCRSMIALMDTDGSGKLNLQEFHHLWNKIKAWQKIFKHYDTDQSGTINSYEMRNAVNDAGFHLNNQLYDIITMRYADKHMNIDFDSFICCFVRLEGMFRAFHAFDKDGDGIIKLNVLEWLQLTMYA
uniprot
proteins
disease_involvement
DISEASE: Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600]: An autosomal recessive degenerative myopathy characterized by progressive symmetrical atrophy and weakness of the proximal limb muscles and elevated serum creatine kinase. The symptoms usually begin during the first two decades of life, and the disease gradually worsens, often resulting in loss of walking ability 10 or 20 years after onset. {ECO:0000269|PubMed:10330340, ECO:0000269|PubMed:27020652, ECO:0000269|PubMed:27234031, ECO:0000269|PubMed:7720071, ECO:0000269|PubMed:8624690, ECO:0000269|PubMed:9150160, ECO:0000269|PubMed:9266733, ECO:0000269|PubMed:9452114, ECO:0000269|PubMed:9655129, ECO:0000269|PubMed:9762961, ECO:0000269|PubMed:9771675}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Muscular dystrophy, limb-girdle, autosomal dominant 4 (LGMDD4) [MIM:618129]: A form of autosomal dominant limb-girdle muscular dystrophy, a myopathy characterized by proximal and/or distal muscle weakness and atrophy. The age at onset is variable and can range from the first to the sixth decade, although later onset is less common. LGMDD4 is characterized by onset of proximal muscle weakness in young adulthood, gait difficulties, increased serum creatine kinase, myalgia, and back pain. Some patients may have upper limb involvement. Disease severity and expressivity are highly variable. {ECO:0000269|PubMed:27259757, ECO:0000269|PubMed:28881388}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.22.54
uniprot
proteins
function
FUNCTION: Calcium-regulated non-lysosomal thiol-protease. Proteolytically cleaves CTBP1 at 'His-409'. Mediates, with UTP25, the proteasome-independent degradation of p53/TP53 (PubMed:23357851, PubMed:27657329). {ECO:0000269|PubMed:23357851, ECO:0000269|PubMed:23707407, ECO:0000269|PubMed:27657329}.
uniprot
proteins
mass_dalton
94254
uniprot
proteins
mutagenesis
MUTAGEN 129; /note="C->S: Loss of activity. No effect on CMYA5-binding. Does not degradate p53/TP53."; /evidence="ECO:0000269|PubMed:20634290, ECO:0000269|PubMed:27657329
uniprot
proteins
protein_family
Peptidase C2 family
uniprot
proteins
pubmed
10330340
uniprot
proteins
pubmed
14583192
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
20634290
uniprot
proteins
pubmed
23357851
uniprot
proteins
pubmed
23707407
uniprot
proteins
pubmed
24846670
uniprot
proteins
pubmed
2555341
uniprot
proteins
pubmed
27020652
uniprot
proteins
pubmed
27234031
uniprot
proteins
pubmed
27259757
uniprot
proteins
pubmed
27657329
uniprot
proteins
pubmed
28881388
uniprot
proteins
pubmed
7720071
uniprot
proteins
pubmed
8624690
uniprot
proteins
pubmed
9150160
uniprot
proteins
pubmed
9266733
uniprot
proteins
pubmed
9452114
uniprot
proteins
pubmed
9655129
uniprot
proteins
pubmed
9762961
uniprot
proteins
pubmed
9771675
uniprot
proteins
sequence_length
821
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm. Nucleus, nucleolus {ECO:0000269|PubMed:23357851, ECO:0000269|PubMed:27657329}.
uniprot
proteins