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Calpains are 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 subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is highly expressed in the placenta. Its C-terminal region lacks any homology to the calmodulin-like domain of other calpains. The protein lacks critical active site residues and thus is suggested to be proteolytically inactive. The protein may play a role in tumor formation by inhibiting apoptosis and promoting angiogenesis. [provided by RefSeq, Nov 2009]
CAPN6 (Calpain 6) is a Protein Coding gene. Diseases associated with CAPN6 include Leiomyosarcoma and Leiomyoma. Among its related pathways are Degradation of the extracellular matrix and nNOS Signaling in Skeletal Muscle. Gene Ontology (GO) annotations related to this gene include microtubule binding and calcium-dependent cysteine-type endopeptidase activity. An important paralog of this gene is CAPN5.
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.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH0XJ111268 | Promoter/Enhancer | 1.4 | EPDnew Ensembl ENCODE CraniofacialAtlas | 605.3 | +1.6 | 1571 | 3.4 | PRDM10 TAF1 JUND | CAPN6 5MWI_A-196 CHRDL1 lnc-PAK3-1 PAK3 | |
GH0XJ112081 | Promoter | 0.7 | Ensembl | 3.6 | -812.8 | -812818 | 1.8 | SP1 EZH2 YY1 RAD21 HNF4A RXRA CTCF | TRPC5 RTL4 CAPN6 piR-39891-088 LHFPL1 | |
GH0XJ111282 | Enhancer | 0.2 | ENCODE | 4.1 | -12.6 | -12625 | 2.2 | CHRDL1 CAPN6 piR-31292-229 DCX | ||
GH0XJ111284 | Enhancer | 0.6 | ENCODE | 0.4 | -14.3 | -14299 | 0.1 | GATAD2A SP1 FOXA2 YY1 HNF4A RXRA MAX FOXA1 ATF3 EGR1 | CAPN6 piR-31292-229 DCX | |
GH0XJ111255 | Enhancer | 0.5 | ENCODE | 0.4 | +15.0 | 15015 | 0.2 | ZNF316 MAFF MAFK MAFG FOS JUND EMSY | 5MWI_A-196 lnc-PAK3-1 CAPN6 PAK3 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004198 | NOT calcium-dependent cysteine-type endopeptidase activity | TAS,IBA | 21873635 |
GO:0008017 | microtubule binding | IEA,ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005819 | spindle | IEA | -- |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0005874 | microtubule | IEA | -- |
GO:0005876 | spindle microtubule | IDA | 17210638 |
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 | B Cell Receptor Signaling Pathway (sino) | ||
5 | ERK Signaling |
ERK Signaling
.61
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001578 | microtubule bundle formation | IEA,ISS | -- |
GO:0006508 | NOT proteolysis | IBA | 21873635 |
GO:0051493 | regulation of cytoskeleton organization | IEA,ISS | -- |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13a | · | 13b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CAPN6 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CAPN6 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CAPN6 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Capn6 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Capn6 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CAPN6 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CAPN6 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CAPN6 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CAPN6 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | CR847986.1 31 |
|
ManyToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | tra-3 31 32 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3869 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
777822 | Benign: not provided | 111,248,637(-) | G/A | SYNONYMOUS_VARIANT | |
rs193921059 | Uncertain Significance: Malignant tumor of prostate | 111,246,746(-) | C/T | MISSENSE_VARIANT | |
VAR_036048 | A colorectal cancer sample | p.Gly358Arg | |||
rs12013711 | - | p.Val277Leu | |||
rs12851517 | - | p.Thr518Ile |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3361732 | OTHER | inversion | 20981092 |
Disorder | Aliases | PubMed IDs |
---|---|---|
leiomyosarcoma |
|
|
leiomyoma |
|
|
coffin-siris syndrome 1 |
|
|
autosomal recessive limb-girdle muscular dystrophy type 2a |
|
|