Calpain-5 (CAPN5)
The protein contains 640 amino acids for an estimated molecular weight of 73169 Da.
Calcium-regulated non-lysosomal thiol-protease. (updated: Dec. 20, 2017)
Protein identification was indicated in the following studies:
- Goodman and co-workers. (2013) The proteomics and interactomics of human erythrocytes. Exp Biol Med (Maywood) 238(5), 509-518.
- Lange and co-workers. (2014) Annotating N termini for the human proteome project: N termini and Nα-acetylation status differentiate stable cleaved protein species from degradation remnants in the human erythrocyte proteome. J Proteome Res. 13(4), 2028-2044.
- Hegedűs and co-workers. (2015) Inconsistencies in the red blood cell membrane proteome analysis: generation of a database for research and diagnostic applications. Database (Oxford) 1-8.
- Wilson and co-workers. (2016) Comparison of the Proteome of Adult and Cord Erythroid Cells, and Changes in the Proteome Following Reticulocyte Maturation. Mol Cell Proteomics. 15(6), 1938-1946.
- Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
- D'Alessandro and co-workers. (2017) Red blood cell proteomics update: is there more to discover? Blood Transfus. 15(2), 182-187.
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
The reference OMIM entry for this protein is 193235
Vitreoretinopathy, neovascular inflammatory; vrni
Proliferative vitreoretinopathy; pvr
Vitreoretinopathy, neovascular inflammatory, autosomal dominant; adniv
A number sign (#) is used with this entry because of evidence that neovascular inflammatory vitreoretinopathy (VRNI) is caused by heterozygous mutation in the CAPN5 gene (602537) on chromosome 11q14.
DESCRIPTION
Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is a blinding disorder that shares some clinical features with retinitis pigmentosa (see 268000), uveitis, and proliferative diabetic retinopathy (see 603933). Features include prominent ocular inflammation; vascular dropout, large spots of hyperpigmentation, and neovascularization of the peripheral and posterior retina; vitreous hemorrhage; and retinal detachment (summary by Sheffield et al., 1992).CLINICAL FEATURES
Bennett et al. (1990) studied a large 6-generation family of northern European ancestry segregating autosomal dominant inflammatory eye disease. There were 28 affected individuals, the condition was present in every generation, and there was at least 1 documented male-to-male transmission. The youngest age at which symptoms developed was 16 years; most affected individuals remained asymptomatic until their third or fourth decade. The first signs of disease included vitreous cells, minimal far-peripheral arteriolar closure and pigmentation, and selective reduction in the b-wave of the electroretinogram (ERG). In middle age, more prominent anterior and posterior inflammation, progressive vascular closure with neovascularization of the far peripheral retina or optic disc, vitreous hemorrhage, tractional retinal detachment, fluorescein leakage in the posterior pole and midperiphery, and cystoid macular edema develop. By 60 years of age, cataracts, marked progressive neovascularization, and tractional retinal detachment were observed, and anterior segment neovascularization developed. Cystoid macular edema, vitreous hemorrhage, tractional retinal detachment, and neovascular glaucoma caused profound visual loss in some patients. The ERG was extinguished late in the disease. Mahajan et al. (2012) studied 2 families segregating autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) and noted that the phenotype was very similar to that described by the pedigree described by Bennett et al. (1990). Affected members exhibited noninfectious uveitis, early loss of the b-wave on electroretinography, pigmentary retinal degeneration, cystoid macular edema, retinal and iris neovascularization, vitreous hemorrhage, epiretinal membrane formation, proliferative vitreoretinopathy, retinal detachment, cataract, neovascular glaucoma, and ultimately phthisis and complete blindness. Both pedigrees were consistent with autosomal dominant inheritance with complete penetrance.MAPPING
Sheffield et al. (1992) established close linkage of VRNI to markers that map to 11q13. In a single large pedigree, linkage analysis with the closest marker, D11S527, demonstrated a maximum lod of 6.29 with no recombinants. Stone et al. (1992) reported that they had found 34 affected members in this pedigree, that no recombinants were found between the disease phenotype and D11S527, and that multipoint analysis yielded a maximum lod score of 11.9 centered on this marker. Another inherited retinal dystrophy, Best macular dystrophy (VMD; 153700), also maps to 11q13. However, Sheffield et al. (1992) stated that the 2 diseases appear to be at least 10 cM apart. Mahajan et al. (2012) genotyped 2 unrelated families segregating autosomal dominant neovasc ... More on the omim web site
Feb. 10, 2018: Protein entry updated
Automatic update: Entry updated from uniprot information.
Feb. 2, 2018: Protein entry updated
Automatic update: Uniprot description updated
Dec. 19, 2017: Protein entry updated
Automatic update: Uniprot description updated
Nov. 23, 2017: Protein entry updated
Automatic update: Uniprot description updated
June 20, 2017: Protein entry updated
Automatic update: comparative model was added.
March 25, 2017: Additional information
No protein expression data in P. Mayeux work for CAPN5
March 16, 2016: Protein entry updated
Automatic update: OMIM entry 193235 was added.