CAPN5
entrez
726
canonical
uniprot
O15484
canonical
ensembl
ENSG00000149260
resolver
ensp
ENSP00000409996
resolver
ensp
ENSP00000432332
resolver
ensp
ENSP00000467244
resolver
ensp
ENSP00000496931
resolver
ensp
ENSP00000498132
resolver
ensp
ENSP00000556106
resolver
enst
ENST00000456580
resolver
enst
ENST00000529629
resolver
enst
ENST00000531028
resolver
enst
ENST00000648180
resolver
enst
ENST00000886047
resolver
genesymbol
CAPN5
resolver
genesymbol_syn
NCL3
resolver
hgnc
HGNC:1482
resolver
uniprot
A0A140VKH4
resolver
uniprot
E7EV01
resolver
uniprot
O00263
resolver
uniprot_entry
A0A140VKH4_HUMAN
resolver
uniprot_entry
CAN5_HUMAN
resolver
uniprot_entry
E7EV01_HUMAN
resolver
uniprot_sec
O00263
resolver
amino_acid_sequence
MFSCVKPYEDQNYSALRRDCRRRKVLFEDPLFPATDDSLYYKGTPGPAVRWKRPKGICEDPRLFVDGISSHDLHQGQVGNCWFVAACSSLASRESLWQKVIPDWKEQEWDPEKPNAYAGIFHFHFWRFGEWVDVVIDDRLPTVNNQLIYCHSNSRNEFWCALVEKAYAKLAGCYQALDGGNTADALVDFTGGVSEPIDLTEGDFANDETKRNQLFERMLKVHSRGGLISASIKAVTAADMEARLACGLVKGHAYAVTDVRKVRLGHGLLAFFKSEKLDMIRLRNPWGEREWNGPWSDTSEEWQKVSKSEREKMGVTVQDDGEFWMTFEDVCRYFTDIIKCRVINTSHLSIHKTWEEARLHGAWTLHEDPRQNRGGGCINHKDTFFQNPQYIFEVKKPEDEVLICIQQRPKRSTRREGKGENLAIGFDIYKVEENRQYRMHSLQHKAASSIYINSRSVFLRTDQPEGRYVIIPTTFEPGHTGEFLLRVFTDVPSNCRELRLDEPPHTCWSSLCGYPQLVTQVHVLGAAGLKDSPTGANSYVIIKCEGDKVRSAVQKGTSTPEYNVKGIFYRKKLSQPITVQVWNHRVLKDEFLGQVHLKADPDNLQALHTLHLRDRNSRQPSNLPGTVAVHILSSTSLMAV
uniprot
proteins
disease_involvement
DISEASE: Vitreoretinopathy, neovascular inflammatory (VRNI) [MIM:193235]: An autoimmune condition of the eye that sequentially mimics uveitis, retinitis pigmentosa, and proliferative diabetic retinopathy as it progresses to complete blindness. Patients present during the second or third decade of life with posterior uveitis and reduction of the electroretinogram b-wave. They become more symptomatic when cataracts, cystoid macular edema, and disk edema diminish visual acuity during the second stage. Severe vision loss begins during the third stage when proliferative retinal neovascularization and epiretinal membranes appear. There is an ongoing pigmentary retinal degeneration and peripheral visual field loss during all stages. In the fourth stage, proliferative vitreoretinopathy causes tractional retinal detachments at the macula and vitreous base. The fifth or end-stage disease is marked by phthisis. {ECO:0000269|PubMed:23055945}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.22.-
uniprot
proteins
function
FUNCTION: Calcium-regulated non-lysosomal thiol-protease. {ECO:0000250}.
uniprot
proteins
mass_dalton
73169
uniprot
proteins
protein_family
Peptidase C2 family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
23055945
uniprot
proteins
pubmed
9339374
uniprot
proteins
pubmed
9367857
uniprot
proteins
sequence_length
640
uniprot
proteins