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Blindness
Two Novel CAPN5 Variants Associated with Mild and Severe Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Phenotypes.
Breast Neoplasms
Calpain-5 gene expression in the mouse eye and brain.
Cardiovascular Diseases
Calpain-5 gene variants are associated with diastolic blood pressure and cholesterol levels.
Cataract
Calpains and their multiple roles in diabetes mellitus.
Deaf-Blind Disorders
Early Onset Neovascular Inflammatory Vitreoretinopathy Due to a De Novo CAPN5 Mutation: Report of a Case.
Diabetes Mellitus
Specific haplotypes of the CALPAIN-5 gene are associated with polycystic ovary syndrome.
Diabetes Mellitus, Type 2
Specific haplotypes of the CALPAIN-5 gene are associated with polycystic ovary syndrome.
Eye Diseases
A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay.
Eye Diseases
Calpain-5 Expression in the Retina Localizes to Photoreceptor Synapses.
Eye Diseases
Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.
Eye Diseases
Structural modeling of a novel CAPN5 mutation that causes uveitis and neovascular retinal detachment.
Glaucoma
Secondary glaucoma in CAPN5-associated neovascular inflammatory vitreoretinopathy.
Hearing Loss
A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay.
Hearing Loss
Early Onset Neovascular Inflammatory Vitreoretinopathy Due to a De Novo CAPN5 Mutation: Report of a Case.
Hepatitis C
Hepatitis C virus enters liver cells using the CD81 receptor complex proteins calpain-5 and CBLB.
Hypertension
Specific haplotypes of the CALPAIN-5 gene are associated with polycystic ovary syndrome.
Leukemia
Calpain 5 is highly expressed in the central nervous system (CNS), carries dual nuclear localization signals, and is associated with nuclear promyelocytic leukemia protein bodies.
Lymphoma
Hepatitis C virus enters liver cells using the CD81 receptor complex proteins calpain-5 and CBLB.
Meningioma
First insight into the somatic mutation burden of neurofibromatosis type 2-associated grade I and grade II meningiomas: a case report comprehensive genomic study of two cranial meningiomas with vastly different clinical presentation.
Metabolic Syndrome
Calpain-5 gene variants are associated with diastolic blood pressure and cholesterol levels.
Metabolic Syndrome
Characterization of mitochondrial calpain-5.
Neoplasms
Calpain-5 Expression in the Retina Localizes to Photoreceptor Synapses.
Neoplasms
Calpain-5 gene expression in the mouse eye and brain.
Neoplasms
Characterization of mitochondrial calpain-5.
Neoplasms
First insight into the somatic mutation burden of neurofibromatosis type 2-associated grade I and grade II meningiomas: a case report comprehensive genomic study of two cranial meningiomas with vastly different clinical presentation.
Neuroblastoma
Molecular cloning and characterization of rat and human calpain-5.
Neuroblastoma
The C2 domain of calpain 5 contributes to enzyme activation and membrane localization.
Neurodegenerative Diseases
Characterization of mitochondrial calpain-5.
Neuroinflammatory Diseases
Structural Insights into the Unique Activation Mechanisms of a Non-classical Calpain and Its Disease-Causing Variants.
Obesity
Calpains and their multiple roles in diabetes mellitus.
Obesity
Interaction between Calpain 5, Peroxisome proliferator-activated receptor-gamma and Peroxisome proliferator-activated receptor-delta genes: a polygenic approach to obesity.
Obesity
Specific haplotypes of the CALPAIN-5 gene are associated with polycystic ovary syndrome.
Polycystic Ovary Syndrome
Specific haplotypes of the CALPAIN-5 gene are associated with polycystic ovary syndrome.
Retinal Degeneration
A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay.
Retinal Degeneration
Functional validation of a human CAPN5 exome variant by lentiviral transduction into mouse retina.
Retinal Degeneration
Phenotypic variance in Calpain-5 retinal degeneration.
Retinal Detachment
Structural modeling of a novel CAPN5 mutation that causes uveitis and neovascular retinal detachment.
Retinal Diseases
Calpain-5 Expression in the Retina Localizes to Photoreceptor Synapses.
Retinal Diseases
Molecular Surgery: Proteomics of a Rare Genetic Disease Gives Insight into Common Causes of Blindness.
Retinal Diseases
Presence of calpain-5 in mitochondria.
Retinal Diseases
Structural Insights into the Unique Activation Mechanisms of a Non-classical Calpain and Its Disease-Causing Variants.
Retinal Dystrophies
Phenotypic variance in Calpain-5 retinal degeneration.
Retinal Neovascularization
Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.
Retinal Neovascularization
Phenotypic variance in Calpain-5 retinal degeneration.
Retinal Vasculitis
Retinal vasculitis.
Retinoblastoma
Calpain-5 Expression in the Retina Localizes to Photoreceptor Synapses.
Thyroid Cancer, Papillary
Absence of allelic imbalance involving EMSY, CAPN5, and PAK1 genes in papillary thyroid carcinoma.
Uveitis
A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay.
Uveitis
Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.
Uveitis
CAPN5 mutation in hereditary uveitis: the R243L mutation increases calpain catalytic activity and triggers intraocular inflammation in a mouse model.
Uveitis
Functional validation of a human CAPN5 exome variant by lentiviral transduction into mouse retina.
Uveitis
Phenotypic variance in Calpain-5 retinal degeneration.
Uveitis
Secondary glaucoma in CAPN5-associated neovascular inflammatory vitreoretinopathy.
Uveitis
Structural modeling of a novel CAPN5 mutation that causes uveitis and neovascular retinal detachment.
Uveitis
Whole-Exome Sequencing of Patients with Posterior Segment Uveitis.
Vesicular Stomatitis
Hepatitis C virus enters liver cells using the CD81 receptor complex proteins calpain-5 and CBLB.
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calpain-5 is localized in the mitochondria of photoreceptor cells and is present in each mitochondrial subfraction. The molecular weight of mitochondrial calpain-5 is slightly smaller than the cytosolic one
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the enzyme carries the nuclear localization signal RRRK (aa 2124)
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the enzyme carries dual nuclear localization signals
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the enzyme carries dual nuclear localization signals
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the enzyme carries dual nuclear localization signals
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the enzyme carries dual nuclear localization signals
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additional information
unlike findings in classical calpains, which are characterized as being mainly cytosolic, CAPN5 is predominantly a noncytosolic calpain, present in the nucleus in the nucleic acidbinding protein fraction. The enzyme CAPN5 is associated with one or more nuclear bodies. Non-nuclear, particularly perinuclear. CAPN5 is found in punctate domains associated with promyelocytic leukemia protein within the nucleus
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brenda
additional information
unlike findings in classical calpains, which are characterized as being mainly cytosolic, CAPN5 is predominantly a noncytosolic calpain, present in the nucleus in the nucleic acidbinding protein fraction. The enzyme is associated with nuclear promyelocytic leukemia protein bodies
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brenda
additional information
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unlike findings in classical calpains, which are characterized as being mainly cytosolic, CAPN5 is predominantly a noncytosolic calpain, present in the nucleus in the nucleic acidbinding protein fraction. The enzyme is associated with nuclear promyelocytic leukemia protein bodies
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additional information
unlike findings in classical calpains, which are characterized as being mainly cytosolic, CAPN5 is predominantly a noncytosolic calpain, present in the nucleus in the nucleic acidbinding protein fraction. The enzyme is associated with nuclear promyelocytic leukemia protein bodies
-
brenda
additional information
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unlike findings in classical calpains, which are characterized as being mainly cytosolic, CAPN5 is predominantly a noncytosolic calpain, present in the nucleus in the nucleic acidbinding protein fraction. The enzyme is associated with nuclear promyelocytic leukemia protein bodies
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evolution
calpain 5 is a non-classical member of the calpain family. It lacks the EF hand motif characteristic of classical calpains but retains catalytic and Ca2 binding domains, and it contains a unique C-terminal domain
evolution
calpain 5 is a non-classical member of the calpain family. It lacks the EF hand motif characteristic of classical calpains but retains catalytic and Ca2 binding domains, and it contains a unique C-terminal domain
evolution
calpain 5 is a non-classical member of the calpain family. It lacks the EF hand motif characteristic of classical calpains but retains catalytic and Ca2 binding domains, and it contains a unique C-terminal domain
evolution
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calpain 5 is a non-classical member of the calpain family. It lacks the EF hand motif characteristic of classical calpains but retains catalytic and Ca2 binding domains, and it contains a unique C-terminal domain
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evolution
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calpain 5 is a non-classical member of the calpain family. It lacks the EF hand motif characteristic of classical calpains but retains catalytic and Ca2 binding domains, and it contains a unique C-terminal domain
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physiological function
hepatitis C uses the membrane protein CD81 to invade human liver cells. Calpain-5 and the ubiquitin ligase Casitas B-lineage lymphoma proto-oncogene CBLB form a complex with CD81 and support hepatitis C virus entry. Calpain-5 and CBLB are required for a post-binding and pre-replication step in the hepatitis C virus life cycle. Knockout of calpain-5 and CBLB reduces susceptibility to all tested hepatitis C virus genotypes
physiological function
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in a zebrafish model of chronic rod photoreceptor degeneration and regeneration, expression of Capn5 is increased. Acute light damage to the zebrafish retina is accompanied by an increase in expression of Capn5 in the surviving cones and in a subset of Mueller glia
additional information
the enzyme is associated with nuclear promyelocytic leukemia protein bodies
additional information
the enzyme is associated with nuclear promyelocytic leukemia protein bodies
additional information
the enzyme is associated with nuclear promyelocytic leukemia protein bodies
additional information
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the enzyme is associated with nuclear promyelocytic leukemia protein bodies
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additional information
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the enzyme is associated with nuclear promyelocytic leukemia protein bodies
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Boeckmann, B.; Bairoch, A.; Apweiler, R.; Blatter, M.C.; Estreicher, A.; Gasteiger, E.; Martin M.J.; Michoud, K.; O'Donovan, C.; Phan, I.; Pilbout, S.; Schneider, M.
The SWISS-PROT protein knowledgebase and its supplement TrEMBL
Nucleic Acids Res.
31
365-370
2003
Mus musculus (O08688), Rattus norvegicus (Q8R4C0), Rattus norvegicus Sprague-Dawley (Q8R4C0)
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Strausberg R.L.; Feingold E.A.; Grouse L.H.; Derge J.G.; et al.
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences
Proc. Natl. Acad. Sci. USA
99
16899-16903
2002
Mus musculus (O08688), Homo sapiens (O15484)
brenda
Dear T.N.; Matena K.; Vingron M.; Boehm T.
A new subfamily of vertebrate calpains lacking a calmodulin-like domain: implications for calpain regulation and evolution
Genomics
45
175-184
1997
Mus musculus (O08688), Mus musculus
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Matena, K.; Boehm, T.; Dear, N.
Genomic organization of mouse Capn5 and Capn6 genes confirms that they are a distinct calpain subfamily
Genomics
48
117-120
1998
Mus musculus (O08688), Mus musculus, Homo sapiens (O15484), Homo sapiens
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Mugita, N.; Kimura, Y.; Ogawa, M.; Saya, H.; Nakao, M.
Identification of a novel, tissue-specific calpain htra-3; a human homologue of the Caenorhabditis elegans sex determination gene
Biochem. Biophys. Res. Commun.
239
845-850
1997
Homo sapiens (O15484), Homo sapiens
brenda
Waghray, A.; Wang, D.S.; McKinsey, D.; Hayes, R.L.; Wang, K.K.
Molecular cloning and characterization of rat and human calpain-5
Biochem. Biophys. Res. Commun.
324
46-51
2004
Homo sapiens (O15484), Homo sapiens, Rattus norvegicus (Q8R4C0)
brenda
Gonzalez, A.; Saez, M.E.; Aragon, M.J.; Galan, J.J.; Vettori, P.; Molina, L.; Rubio, C.; Real, L.M.; Ruiz, A.; Ramirez-Lorca, R.
Specific haplotypes of the CALPAIN-5 gene are associated with polycystic ovary syndrome
Hum. Reprod.
21
943-951
2006
Homo sapiens (O15484), Homo sapiens
brenda
Saez Maria , S.M.; Martinez-Larrad Maria , M.M.; Ramirez-Lorca Repos, R.R.; Gonzalez-Sanchez Jose , G.J.; Zabena Carin, Z.C.; Martinez-Calatrava Maria , M.M.; Gonzalez Alejandr, G.A.; Moron Francisco , M.F.; Ruiz Agusti, R.A.; Serrano-Rios Manue, S.M.
Calpain-5 gene variants are associated with diastolic blood pressure and cholesterol levels
BMC Med. Genet.
8
1-1
2007
Homo sapiens
brenda
Singh, R.; Brewer, M.K.; Mashburn, C.B.; Lou, D.; Bondada, V.; Graham, B.; Geddes, J.W.
Calpain 5 is highly expressed in the central nervous system (CNS), carries dual nuclear localization signals, and is associated with nuclear promyelocytic leukemia protein bodies
J. Biol. Chem.
289
19383-19394
2014
Mus musculus (O08688), Homo sapiens (O15484), Rattus norvegicus (Q8R4C0), Rattus norvegicus Sprague-Dawley (Q8R4C0), Mus musculus C57/BL6J (O08688)
brenda
Iwamoto, T.; Ishiyama, E.; Ishida, K.; Yamashita, T.; Tomita, H.; Ozaki, T.
Presence of calpain-5 in mitochondria
Biochem. Biophys. Res. Commun.
504
454-459
2018
Sus scrofa
brenda
Schaefer, K.; Mahajan, M.; Gore, A.; Tsang, S.H.; Bassuk, A.G.; Mahajan, V.B.
Calpain-5 gene expression in the mouse eye and brain
BMC Res. Notes
10
602
2017
Mus musculus (O08688), Mus musculus
brenda
Coomer, C.E.; Morris, A.C.
Capn5 expression in the healthy and regenerating zebrafish retina
Invest. Ophthalmol. Vis. Sci.
59
3643-3654
2018
Danio rerio
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Nakashima, N.; Nakashima, K.; Takaku-Nakashima, A.; Takano, M.
Olfactory receptor neurons express olfactory marker protein but not calpain 5 from the same genomic locus
Mol. Brain
12
54
2019
Mus musculus (O08688)
brenda
Bruening, J.; Lasswitz, L.; Banse, P.; Kahl, S.; Marinach, C.; Vondran, F.; Kaderali, L.; Silvie, O.; Pietschmann, T.; Meissner, F.; Gerold, G.
Hepatitis C virus enters liver cells using the CD81 receptor complex proteins calpain-5 and CBLB
PLoS Pathog.
14
e1007111
2018
Homo sapiens (O15484), Homo sapiens
brenda