CAPN1
entrez
823
canonical
uniprot
P07384
canonical
ensembl
ENSG00000014216
resolver
ensp
ENSP00000279247
resolver
ensp
ENSP00000431686
resolver
ensp
ENSP00000431984
resolver
ensp
ENSP00000434176
resolver
ensp
ENSP00000435272
resolver
ensp
ENSP00000573883
resolver
enst
ENST00000279247
resolver
enst
ENST00000524773
resolver
enst
ENST00000527323
resolver
enst
ENST00000533129
resolver
enst
ENST00000533820
resolver
genesymbol
CAPN1
resolver
genesymbol_syn
CANPL1
resolver
hgnc
HGNC:1476
resolver
uniprot
B2RDI5
resolver
uniprot
B4DWH5
resolver
uniprot
Q2TTR0
resolver
uniprot
Q6DHV4
resolver
uniprot_entry
B2RDI5_HUMAN
resolver
uniprot_entry
B4DWH5_HUMAN
resolver
uniprot_entry
CAN1_HUMAN
resolver
uniprot_sec
Q2TTR0
resolver
uniprot_sec
Q6DHV4
resolver
activity_regulation
ACTIVITY REGULATION: Activated by micromolar concentrations of calcium and inhibited by calpastatin. {ECO:0000269|PubMed:8954105, ECO:0000269|PubMed:9271093}.
uniprot
proteins
amino_acid_sequence
MSEEIITPVYCTGVSAQVQKQRARELGLGRHENAIKYLGQDYEQLRVRCLQSGTLFRDEAFPPVPQSLGYKDLGPNSSKTYGIKWKRPTELLSNPQFIVDGATRTDICQGALGDCWLLAAIASLTLNDTLLHRVVPHGQSFQNGYAGIFHFQLWQFGEWVDVVVDDLLPIKDGKLVFVHSAEGNEFWSALLEKAYAKVNGSYEALSGGSTSEGFEDFTGGVTEWYELRKAPSDLYQIILKALERGSLLGCSIDISSVLDMEAITFKKLVKGHAYSVTGAKQVNYRGQVVSLIRMRNPWGEVEWTGAWSDSSSEWNNVDPYERDQLRVKMEDGEFWMSFRDFMREFTRLEICNLTPDALKSRTIRKWNTTLYEGTWRRGSTAGGCRNYPATFWVNPQFKIRLDETDDPDDYGDRESGCSFVLALMQKHRRRERRFGRDMETIGFAVYEVPPELVGQPAVHLKRDFFLANASRARSEQFINLREVSTRFRLPPGEYVVVPSTFEPNKEGDFVLRFFSEKSAGTVELDDQIQANLPDEQVLSEEEIDENFKALFRQLAGEDMEISVKELRTILNRIISKHKDLRTKGFSLESCRSMVNLMDRDGNGKLGLVEFNILWNRIRNYLSIFRKFDLDKSGSMSAYEMRMAIESAGFKLNKKLYELIITRYSEPDLAVDFDNFVCCLVRLETMFRFFKTLDTDLDGVVTFDLFKWLQLTMFA
uniprot
proteins
disease_involvement
DISEASE: Spastic paraplegia 76, autosomal recessive (SPG76) [MIM:616907]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269|PubMed:27153400}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.22.52
uniprot
proteins
function
FUNCTION: Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction (PubMed:19617626, PubMed:21531719, PubMed:2400579). Proteolytically cleaves CTBP1 at 'Asn-375', 'Gly-387' and 'His-409' (PubMed:23707407). Cleaves and activates caspase-7 (CASP7) (PubMed:19617626). {ECO:0000269|PubMed:19617626, ECO:0000269|PubMed:21531719, ECO:0000269|PubMed:23707407, ECO:0000269|PubMed:2400579}.
uniprot
proteins
mass_dalton
81890
uniprot
proteins
mutagenesis
MUTAGEN 398; /note="K->R: Complete loss of ubiquitination."; /evidence="ECO:0000269|PubMed:36964131
uniprot
proteins
post_translational_modification
PTM: Undergoes calcium-induced successive autoproteolytic cleavages that generate a membrane-bound 78 kDa active form and an intracellular 75 kDa active form. Calpastatin reduces with high efficiency the transition from 78 kDa to 75 kDa calpain forms. {ECO:0000269|PubMed:8769305, ECO:0000269|PubMed:8954105}.; PTM: Ubiquitinated via 'Lys6'-, 'Lys27'-, 'Lys29'-, and 'Lys63'-linked chains by the E3 ubiquitin ligase complex at least composed of CUL3, KCTD7 and RBX1 to execute atypical, non-degradative ubiquitination. {ECO:0000269|PubMed:36964131}.
uniprot
proteins
protein_family
Peptidase C2 family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16411745
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19617626
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21531719
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23707407
uniprot
proteins
pubmed
2400579
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
27153400
uniprot
proteins
pubmed
3017764
uniprot
proteins
pubmed
36964131
uniprot
proteins
pubmed
8769305
uniprot
proteins
pubmed
8954105
uniprot
proteins
pubmed
9271093
uniprot
proteins
sequence_length
714
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21531719, ECO:0000269|PubMed:36964131, ECO:0000269|PubMed:8769305}. Cell membrane {ECO:0000269|PubMed:8769305}. Note=Translocates to the plasma membrane upon Ca(2+) binding. In granular keratinocytes and in lower corneocytes, colocalizes with FLG and FLG2 (PubMed:21531719). {ECO:0000269|PubMed:21531719}.
uniprot
proteins