CAPN10: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

CAPN10

Aliases

CANP10, NIDDM1

Entrez Gene ID

11132

Gene Name

Calpain 10

Chromosomal Location

2q37.3

HGNC ID

HGNC:1477

Summary

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]

RefSeq DNA

NG_011558.2

RefSeq mRNA

NM_023083.3, NM_023083.4, NM_023085.4

e!Ensembl

Gene	ENSG00000142330
Transcript	ENST00000391984, ENST00000404753, ENST00000270364, ENST00000352879, ENST00000357048, ENST00000416591, ENST00000354082, ENST00000270361, ENST00000391983, ENST00000432084, ENST00000426297
Protein	ENSP00000375844, ENSP00000384422, ENSP00000270364, ENSP00000289381, ENSP00000349556, ENSP00000400144, ENSP00000270362, ENSP00000270361, ENSP00000375843, ENSP00000407090, ENSP00000404064

SNPs

SNP Id	Upstream Sequence	SNP	Downstream Sequence	Functional Significance	References
rs3792267	CGCTCACGCTTGCTGTGAAGTAAGGC	A/G	TTTGAAGGTGAGGCTAAGCCTTGAC	Intron variant	24993116
rs3842570	GAGGGTGATGATTCTGTCCCAGGAGC	-/CGGGAGGAGGGTGATGATTCTGTCCCAGGAGC	TGGGAGGAGGGTGGGCTTGTGGGAG	Intron variant	24993116
rs5030952	GGGGCCAGGGCCTGACGGGGGTGGAG	C/T	GAGGGGTGGGCCGCGTCTGTGCAGG		24993116
rs2975760	GGACTGCAGGGCGCTCACGCTTGCTG	C/T	GAAGTAAGGCGTTTGAAGGTGAGGC	Intron variant	22384174

Gene Ontology (GO)

Show/Hide all(13 )

GO ID	Ontology	Function	Evidence	Reference
GO:0006508	Biological process	Proteolysis	IBA	21873635
GO:0006508	Biological process	Proteolysis	IMP	15044459
GO:0031532	Biological process	Actin cytoskeleton reorganization	ISS	12974673
GO:0032024	Biological process	Positive regulation of insulin secretion	IMP	15471947
GO:0032388	Biological process	Positive regulation of intracellular transport	ISS	12974673
GO:0032869	Biological process	Cellular response to insulin stimulus	IMP	17572128
GO:0046326	Biological process	Positive regulation of glucose import	IMP	17572128
GO:0097050	Biological process	Type B pancreatic cell apoptotic process	IDA	15044459
GO:0005737	Cellular component	Cytoplasm	IBA	21873635
GO:0005739	Cellular component	Mitochondrion	IDA	16790502
GO:0005829	Cellular component	Cytosol	IDA	16790502
GO:0004198	Molecular function	Calcium-dependent cysteine-type endopeptidase activity	IBA	21873635
GO:0004198	Molecular function	Calcium-dependent cysteine-type endopeptidase activity	IMP	15044459

Protein Information

Protein Name

Calpain-10, calcium-activated neutral proteinase 10, calpain-like protease CAPN10

Function

Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. May play a role in insulin-stimulated glucose uptake

Refseq Proteins

NP_075571.1, NP_075571.2, NP_075573.3

UniProt

Q9HC96