CAN5_HUMAN
Source:
PM19886704
PM23856902
BSc_CH
PM22954596
Marked as 'Non-membrane protein'
Confidence:
high (present in two of the MS resources)
Search PubMed for
(RBC AND this entry)
Gene names:
CAPN5
, NCL3
Protein names and data:
CAN5_HUMAN
, Calpain-5; 3.4.22.-
, Calpain htra-3; New calpain 3; nCL-3
Lenght: 640 a.a.
Mass: 73169 Da
fasta formatted sequence
Catalytic activity:
Broad endopeptidase specificity.
Disease:
( OMIM:
193235
602537
)
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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue specificity:
Expressed in many tissues. Strong expression in the photoreceptor cells of the retina, with a punctate pattern of labeling over the nuclei and inner segments with less expression along the other segments and outer plexiform layer.
Genetic variants
243 - 243
R -> L (in VRNI; largely mislocalized to the cytoplasm whereas the wild-type protein is localized near the cell surface). VAR_069277
244 - 244
L -> P (in VRNI; largely mislocalized to the cytoplasm whereas the wild-type protein is localized near the cell surface). VAR_069278
Database cross-references
UniProt:
O15484
Ensembl:
ENST00000278559
Ensembl:
ENST00000529629
Ensembl:
ENST00000571230
Ensembl:
ENST00000576267
MIM:
193235
MIM:
602537
neXtProt:
NX_O15484
Antibodypedia:
O15484
(may not find the protein thus also not any antibody)
Local full text data:
click here
Users' comments
Login to add a comment.