InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CAPN5

Summary

InnateDB Protein

IDBP-65278.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CAPN5

Protein Name

calpain 5

Synonyms

ADNIV; HTRA3; nCL-3; VRNI;

Species

Homo sapiens

Ensembl Protein

ENSP00000278559

InnateDB Gene

IDBG-65276 (CAPN5)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Disease Associations

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:0000269PubMed:23055945}. 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. {ECO:0000269PubMed:23055945}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004198	calcium-dependent cysteine-type endopeptidase activity
GO:0005515	protein binding

Biological Process

GO:0006508	proteolysis
GO:0007165	signal transduction

Cellular Component

GO:0005622	intracellular
GO:0005737	cytoplasm
GO:0009986	cell surface
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR000008 C2 domain
IPR001300 Peptidase C2, calpain, catalytic domain
IPR022682 Peptidase C2, calpain, large subunit, domain III
IPR022683 Peptidase C2, calpain, domain III
IPR022684 Peptidase C2, calpain family

PFAM

PF00168
PF00648
PF01067

PRINTS

PR00360
PR00704

PIRSF

SMART

SM00239
SM00230
SM00720

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt