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Calpains represent a ubiquitous, well-conserved family of calcium-dependent cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large catalytic subunit has four domains: domain I, the N-terminal regulatory domain that is processed upon calpain activation; domain II, the protease domain; domain III, a linker domain of unknown function; and domain IV, the calmodulin-like calcium-binding domain. This gene encodes a large subunit. It is an atypical calpain in that it lacks the calmodulin-like calcium-binding domain and instead has a divergent C-terminal domain. It is similar in organization to calpains 5 and 6. This gene is associated with type 2 or non-insulin-dependent diabetes mellitus (NIDDM), and is located within the NIDDM1 region. Multiple alternative transcript variants have been described for this gene. [provided by RefSeq, Sep 2010]
CAPN10 (Calpain 10) is a Protein Coding gene. Diseases associated with CAPN10 include Type 1 Diabetes Mellitus 2 and Polycystic Ovary Syndrome. Among its related pathways are ERK Signaling and Degradation of the extracellular matrix. Gene Ontology (GO) annotations related to this gene include cytoskeletal protein binding and calcium-dependent cysteine-type endopeptidase activity. An important paralog of this gene is CAPN3.
Calpains are a group of calcium-sensitive cysteine proteases that are ubiquitously expressed in mammals. Structurally, calpains contain two subunits; an 80 kDa catalytic subunit and a 28 kDa regulatory subunit that functions as a chaperone to stabilize the 80 kDa structure.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000149 | SNARE binding | ISS | -- |
GO:0004198 | calcium-dependent cysteine-type endopeptidase activity | IEA,IMP | 15044459 |
GO:0005515 | protein binding | IPI | 32814053 |
GO:0008092 | cytoskeletal protein binding | ISS | -- |
GO:0008233 | peptidase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005739 | mitochondrion | IDA | 16790502 |
GO:0005829 | cytosol | ISS | -- |
GO:0005886 | plasma membrane | ISS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | nNOS Signaling in Skeletal Muscle |
nNOS Signaling in Skeletal Muscle
.37
Caspase Cascade
.36
|
Calpain Protease Regulates Cellular Mechanics
.31
|
2 | Degradation of the extracellular matrix | ||
3 | Apoptosis Pathway | ||
4 | ERK Signaling |
ERK Signaling
.61
|
|
5 | Integrin Pathway |
FAK1 Signaling
.67
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006508 | proteolysis | IEA,IMP | 15044459 |
GO:0006921 | cellular component disassembly involved in execution phase of apoptosis | IC | -- |
GO:0031532 | actin cytoskeleton reorganization | ISS | 12974673 |
GO:0032024 | positive regulation of insulin secretion | IMP | 15471947 |
GO:0032388 | positive regulation of intracellular transport | ISS | 12974673 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Metformin | Approved | Pharma | AMP-activated protein kinase (AMPK) activator | 2290 | ||
Tacrolimus | Approved, Investigational | Pharma | 1315 | |||
Calcium | Nutra | 6876 | ||||
Calpeptin | Pharma | Ca2+-dependent protease,calpain inhibitor, Calpain and cathepsin L inhibitor | 0 | |||
MDL 28170 | Pharma | Calpain and cathepsin B inhibitor, selective, Potent, selective calpain and cathepsin B inhibitor | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | · | 3d | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16a | · | 16b | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||
SP14: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
SP15: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP16: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP17: |
ExUns: | 16c | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20a | · | 20b | ^ | 21a | · | 21b | · | 21c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||
SP2: | |||||||||||||||||
SP3: | |||||||||||||||||
SP4: | |||||||||||||||||
SP5: | |||||||||||||||||
SP6: | |||||||||||||||||
SP7: | |||||||||||||||||
SP8: | |||||||||||||||||
SP9: | - | - | - | ||||||||||||||
SP10: | |||||||||||||||||
SP11: | - | - | |||||||||||||||
SP12: | - | ||||||||||||||||
SP13: | - | - | - | ||||||||||||||
SP14: | |||||||||||||||||
SP15: | |||||||||||||||||
SP16: | |||||||||||||||||
SP17: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CAPN10 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | LOC789674 30 |
|
||
CAPN10 31 |
|
OneToOne | |||
Dog (Canis familiaris) |
Mammalia | CAPN10 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Capn10 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Capn10 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CAPN10 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | CAPN10 30 |
|
||
Lizard (Anolis carolinensis) |
Reptilia | CAPN10 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | capn10 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | capn10 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CalpC 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
771849 | Benign: not provided | 240,598,657(+) |
A/. NM_023083.4(CAPN10):c.1996= (p.Ile666=) |
NO_SEQUENCE_ALTERATION | |
984988 | Uncertain Significance: Inborn genetic diseases | 240,591,007(+) |
G/A NM_023083.4(CAPN10):c.466G>A (p.Ala156Thr) |
MISSENSE | |
984989 | Pathogenic: Inborn genetic diseases | 240,594,547(+) |
G/GAAGGGTGGAGCCA
NM_023083.4(CAPN10):c.837_858dup (p.Ala287fs) |
FRAMESHIFT | |
rs1009002311 | Likely Benign: not provided | 240,593,973(+) |
G/A NM_023083.4(CAPN10):c.756G>A (p.Ala252=) |
SYNONYMOUS | |
rs114120181 | Benign: not provided | 240,597,889(+) |
T/C NM_023083.4(CAPN10):c.1745T>C (p.Val582Ala) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2759119 | CNV | gain | 17122850 |
nsv1001262 | CNV | gain | 25217958 |
nsv470529 | CNV | loss | 18288195 |
nsv834586 | CNV | loss | 17160897 |
nsv955291 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
type 1 diabetes mellitus 2 |
|
|
polycystic ovary syndrome |
|
|
type 2 diabetes mellitus |
|
|
diabetes mellitus |
|
|
hyperandrogenism |
|
|