CAPN11 (calpain 11)

Gene

• Entrez ID: 11131
• Gene name: Calpain 11
• Gene symbol: CAPN11
• Synonyms (NCBI Gene): calpain11
• Chromosome: 6
• Chromosome location: 6p21.1
• Summary: Calpains constitute a family of intracellular calcium-dependent cysteine proteases. There are eight members in this superfamily. They consist of a variable 80 kDa subunit and an invariant 30 kDa subunit. This calpain protein appears to have protease activ

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016936	hsa-miR-335-5p	Microarray	18185580
MIRT022184	hsa-miR-124-3p	Microarray	18668037
MIRT2193336	hsa-miR-138	CLIP-seq
MIRT2193337	hsa-miR-3160-3p	CLIP-seq
MIRT2193338	hsa-miR-3529	CLIP-seq
MIRT2193339	hsa-miR-3616-3p	CLIP-seq
MIRT2193340	hsa-miR-379	CLIP-seq
MIRT2193341	hsa-miR-4451	CLIP-seq
MIRT2193342	hsa-miR-4650-3p	CLIP-seq
MIRT2193343	hsa-miR-4721	CLIP-seq
MIRT2193344	hsa-miR-639	CLIP-seq
MIRT2193336	hsa-miR-138	CLIP-seq
MIRT2446151	hsa-miR-3150a-5p	CLIP-seq
MIRT2446152	hsa-miR-3150b-5p	CLIP-seq
MIRT2193338	hsa-miR-3529	CLIP-seq
MIRT2193340	hsa-miR-379	CLIP-seq
MIRT2193341	hsa-miR-4451	CLIP-seq
MIRT2193342	hsa-miR-4650-3p	CLIP-seq
MIRT2193344	hsa-miR-639	CLIP-seq
MIRT2446153	hsa-miR-720	CLIP-seq
MIRT2193336	hsa-miR-138	CLIP-seq
MIRT2446151	hsa-miR-3150a-5p	CLIP-seq
MIRT2446152	hsa-miR-3150b-5p	CLIP-seq
MIRT2193338	hsa-miR-3529	CLIP-seq
MIRT2193340	hsa-miR-379	CLIP-seq
MIRT2193341	hsa-miR-4451	CLIP-seq
MIRT2193342	hsa-miR-4650-3p	CLIP-seq
MIRT2193344	hsa-miR-639	CLIP-seq
MIRT2446153	hsa-miR-720	CLIP-seq
MIRT2193336	hsa-miR-138	CLIP-seq
MIRT2446151	hsa-miR-3150a-5p	CLIP-seq
MIRT2446152	hsa-miR-3150b-5p	CLIP-seq
MIRT2193338	hsa-miR-3529	CLIP-seq
MIRT2193340	hsa-miR-379	CLIP-seq
MIRT2193341	hsa-miR-4451	CLIP-seq
MIRT2193342	hsa-miR-4650-3p	CLIP-seq
MIRT2193344	hsa-miR-639	CLIP-seq
MIRT2446153	hsa-miR-720	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0004198	Function	Calcium-dependent cysteine-type endopeptidase activity	IBA
GO:0004198	Function	Calcium-dependent cysteine-type endopeptidase activity	IEA
GO:0004198	Function	Calcium-dependent cysteine-type endopeptidase activity	TAS	10409436
GO:0005509	Function	Calcium ion binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008233	Function	Peptidase activity	TAS	10409436
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 604822
• HGNC: 1478
• e!Ensembl: ENSG00000137225

Protein

• UniProt ID: Q9UMQ6
• Protein name: Calpain-11 (EC 3.4.22.-) (Calcium-activated neutral proteinase 11) (CANP 11)
• Protein function: Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00648	Peptidase_C2	80 → 376	Calpain family cysteine protease	Family
  PF01067	Calpain_III	397 → 539	Calpain large subunit, domain III	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highest expression in testis. {ECO:0000269|PubMed:10409436}.
• Sequence:

  MLYSPGPSLPESAESLDGSQEDKPRGSCAEPTFTDTGMVAHINNSRLKAKGVGQHDNAQN
  FGNQSFEELRAACLRKGELFEDPLFPAEPSSLGFKDLGPNSKNVQNISWQRPKDIINNPL
  FIMDGISPTDICQGILGDCWLLAAIGSLTTCPKLLYRVVPRGQSFKKNYAGIFHFQIWQF
  GQWVNVVVDDRLPTKNDKLVFVHSTERSEFWSALLEKAYAKLSGSYEALSGGSTMEGLED
  FTGGVAQSFQLQRPPQNLLRLLRKAVERSSLMGCSIEVTSDSELESMTDKMLVRGHAYSV
  TGLQDVHYRGKMETLIRVRNPWGRIEWNGAWSDSAREWEEVASDIQMQLLHKTEDGEFWM
  SYQDFLNNFTLLEICNLTPDTLSGDYKSYWHTTFYEGSWRRGSSAGGCRNHPGTFWTNPQ
  FKISLPEGDDPEDDAEGNVVVCTCLVALMQKNWRHARQQGAQLQTIGFVLYAVPKEFQNI
  QDVHLKKEFFTKYQDHGFSEIFTNSREVSSQLRLPPGEYIIIPSTFEPHRDADFLLRVFT
  EKHSESWELDEVNYAEQLQEEKVSEDDMDQDFLHLFKIVAGEGKEIGVYELQRLLNRMAI
  KFKSFKTKGFGLDACRCMINLMDKDGSGKLGLLEFKILWKKLKKWMDIFRECDQDHSGTL
  NSYEMRLVIEKAGIKLNNKVMQVLVARYADDDLIIDFDSFISCFLRLKTMFTFFLTMDPK
  NTGHICLSLEQWLQMTMWG

• Sequence length: 739

Pathways

Reactome:

Degradation of the extracellular matrix

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CHAGAS CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Azoospermia Nonobstructive	Nonobstructive azoospermia	Pubtator	24012201	Associate	★☆☆☆☆ Found in Text Mining only
Congenital central hypoventilation syndrome	Congenital central hypoventilation syndrome	Pubtator	35451555	Associate	★☆☆☆☆ Found in Text Mining only