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Information on EC 3.4.22.B35 - calpain 15
for references in articles please use BRENDA:EC3.4.22.B35
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preliminary BRENDA-supplied EC number
EC Tree 3 Hydrolases
3.4 Acting on peptide bonds (peptidases)
3.4.22 Cysteine endopeptidases
3.4.22.B35 calpain 15
The enzyme appears in viruses and cellular organisms
showSynonyms
capn15, sol calpain, calpain 15, more
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SYNONYM 
ORGANISM
UNIPROT
COMMENTARY 
LITERATURE
small optic lobes calpain
small optic lobes protein
-
-
-
-
SOL calpain
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REACTION
REACTION DIAGRAM
COMMENTARY
ORGANISM
UNIPROT
LITERATURE
broad endopeptidase specificity
-
-
-
-
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REACTION TYPE
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
hydrolysis of peptide bond
hydrolysis of peptide bond
-
-
endopeptidase
-
hydrolysis of peptide bond
-
-
peptides, endopeptidase
-
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CAS REGISTRY NUMBER
COMMENTARY
78990-62-2
-
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SUBSTRATE
PRODUCT
REACTION DIAGRAM
ORGANISM
UNIPROT
LITERATURE
COMMENTARY
Reversibility
r=reversible
ir=irreversible
?=not specified
r=reversible
ir=irreversible
?=not specified
additional information
?
-
-
Substrates: mutations in the small optic lobes gene cause specific cells to degenerate in the developing optic lobes, resulting in the absence of certain classes of columnar neurons
Products: -
Products: -
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NATURAL SUBSTRATE
NATURAL PRODUCT
REACTION DIAGRAM
ORGANISM
UNIPROT
LITERATURE
COMMENTARY
REVERSIBILITY
r=reversible
ir=irreversible
?=not specified
r=reversible
ir=irreversible
?=not specified
additional information
?
-
-
Substrates: mutations in the small optic lobes gene cause specific cells to degenerate in the developing optic lobes, resulting in the absence of certain classes of columnar neurons
Products: -
Products: -
?
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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Anophthalmos
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.
Cataract
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.
Coloboma
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.
Deafness
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.
Eye Diseases
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.
Microphthalmos
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.
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ORGANISM
COMMENTARY
LITERATURE
UNIPROT
SEQUENCE DB
SOURCE
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SOURCE TISSUE
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
SOURCE
Capn15 expression occurs throughout the brain and central nervous system, strongest during early development, and decreasing postnatally
brenda
additional information
Capn15 is highly expressed in the brain and eye
brenda
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LOCALIZATION
ORGANISM
UNIPROT
COMMENTARY
GeneOntology No.
LITERATURE
SOURCE
Highest Expressing Human Cell Lines
Cell Line LinksPlease wait a moment until the data is sorted. This message will disappear when the data is sorted.
GENERAL INFORMATION
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
evolution
calpain 15 (CAPN15) is an intracellular cysteine protease belonging to the non-classical small optic lobe (SOL) family of calpains, an important class of developmental proteins
malfunction
biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits. Five individuals with microphthalmia and/or coloboma from four independent families carry homozygous or compound heterozygous predicted damaging variants in gene CAPN15. Several individuals have additional phenotypes including growth deficits, developmental delay and hearing loss. Critical role of CAPN15 in vertebrate developmental eye disorders, phenotypes, detailed overview
physiological function
physiological function
-
SOL calpain zinc fingers bind poly- but not mono- or diubiquitin. No specific zinc finger is required for polyubiquitin binding. Neither polyubiquitin nor calcium is sufficient to induce purified SOL calpain to autolyse or to cleave the atypical protein kinase C to protein kinase M in vitro. In Aplysia californica, overexpression of the atypical protein kinase C in sensory neurons leads to an activity-dependent cleavage event and an increase in nuclear ubiquitin staining. Activity-dependent cleavage is partially blocked by a dominant negative SOL calpain
physiological function
-
SOL calpain zinc fingers bind to ubiquitin. No specific zinc finger is required for polyubiquitin binding
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UNIPROT
ENTRY NAME
ORGANISM
NO. OF AA
NO. OF TRANSM. HELICES
MOLECULAR WEIGHT[Da]
SOURCE
SEQUENCE
LOCALIZATION PREDICTION
The reliability class of the localization prediction ranges from 1 (very reliable) to 5 (not reliable).
The reliability class of the localization prediction ranges from 1 (very reliable) to 5 (not reliable). CAND_DROME
1594
0
174313
Swiss-Prot
Secretory Pathway (Reliability: 1)
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PROTEIN VARIANTS
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
G969S
naturally occurring mutation, the patient shows unilateral microphthalmia, bilateral coloboma, and unilatera, as well as laryngeal cleft, dysphonia, hirsute, and sacral dimple
R1028K
naturally occurring mutation, the patient shows bilateral myopia, and unilateral coloboma
S613L
naturally occurring mutation, the patients show uni- or bilateral coloboma, unilateral ptosis, a short stature, global delay, microcephaly, deafness, facial dysmorphism, imperforate anus, unilateral simple ear, and prominent columella, or autism spectrum disorder
S720F/R800W
naturally occurring mutation, the patient shows bilateral microphthalmia, iridio-corneal adhesion, cognitive delay, and autism
additional information
identification and analysis of gene CAPN15 mutations involved in eye disorders, genotyping, overview. Generation of Capn15 knockout model mice that exhibit similar severe developmental eye defects, including anophthalmia, microphthalmia and cataract, and diminished growth compared to human mutant variants. Capn15(-/-) mice have anophthalmia, microphthalmia, and cataract
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CLONED (Commentary)
ORGANISM
UNIPROT
LITERATURE
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APPLICATION
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
medicine
biomarkers proposed for stroke diagnosis include tissue leakage metalloproteins such as calpain-15, titin (isoform 3), and tropomyosin alpha-4 chain. Metalloproteins, such as selenoprotein P or glutathione peroxidase, are identified in all stroke type groups
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REF.
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
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
Drosophila melanogaster (P27398)
brenda
Delaney, S.J.; Hayward, D.C.; Barleben, F.; Fischback, K.F.; Miklos, G.L.G.
Molecular cloning and analysis of small optic lobes, a structural brain gene of Drosophila melanogaster
Proc. Natl. Acad. Sci. USA
88
7214-7218
1991
Drosophila melanogaster
brenda
Hastings, M.H.; Qiu, A.; Zha, C.; Farah, C.A.; Mahdid, Y.; Ferguson, L.; Sossin, W.S.
The zinc fingers of the small optic lobes calpain bind polyubiquitin
J. Neurochem.
146
429-445
2018
Aplysia californica, Mus musculus
brenda
Nahan, K.S.; Walsh, K.B.; Adeoye, O.; Landero-Figueroa, J.A.
The metal and metalloprotein profile of human plasma as biomarkers for stroke diagnosis
J. Trace Elem. Med. Biol.
42
81-91
2017
Homo sapiens (O75808)
brenda
Zha, C.; Farah, C.A.; Holt, R.J.; Ceroni, F.; Al-Abdi, L.; Thuriot, F.; Khan, A.O.; Helaby, R.; Levesque, S.; Alkuraya, F.S.; Kraus, A.; Ragge, N.K.; Sossin, W.S.
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits
Hum. Mol. Genet.
29
3054-3063
2020
Homo sapiens (O75808)
brenda
EXTERNAL LINKS (specific for EC-Number 3.4.22.B35)
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