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 activity and calcium-binding ability. A similar mouse protein may play a functional role in spermatogenesis and in the regulation ... See more...

Aliases for CAPN11 Gene

Aliases for CAPN11 Gene

  • Calpain 11 2 3 5
  • Calcium-Activated Neutral Proteinase 11 3 4
  • Calpain-11 3 4
  • CANP 11 3 4
  • EC 3.4.22.54 50
  • EC 3.4.22.52 50
  • EC 3.4.22.- 4
  • Calpain11 3
  • EC 3.4.22 50
  • CAPN11 5

External Ids for CAPN11 Gene

Previous GeneCards Identifiers for CAPN11 Gene

  • GC06P044128
  • GC06P044173
  • GC06P044235
  • GC06P043847
  • GC06P044126
  • GC06P044420
  • GC06P044826
  • GC06P044710
  • GC06P046131
  • GC06P047543
  • GC06P049597

Summaries for CAPN11 Gene

Entrez Gene Summary for CAPN11 Gene

  • 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 activity and calcium-binding ability. A similar mouse protein may play a functional role in spermatogenesis and in the regulation of calcium-dependent signal transduction events during meiosis. [provided by RefSeq, Dec 2008]

GeneCards Summary for CAPN11 Gene

CAPN11 (Calpain 11) is a Protein Coding gene. Diseases associated with CAPN11 include Coffin-Siris Syndrome 1. Among its related pathways are Degradation of the extracellular matrix and Apoptosis Pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding and calcium-dependent cysteine-type endopeptidase activity. An important paralog of this gene is CAPN1.

UniProtKB/Swiss-Prot Summary for CAPN11 Gene

  • Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction.

Tocris Summary for CAPN11 Gene

  • 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.

No data available for CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CAPN11 Gene

Genomics for CAPN11 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CAPN11 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CAPN11 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CAPN11

Top Transcription factor binding sites by QIAGEN in the CAPN11 gene promoter:
  • c-Myc
  • COUP
  • COUP-TF
  • COUP-TF1
  • LCR-F1
  • Max1
  • MZF-1
  • POU2F1
  • POU2F1a
  • POU3F2

Genomic Locations for CAPN11 Gene

Latest Assembly
chr6:44,158,811-44,184,401
(GRCh38/hg38)
Size:
25,591 bases
Orientation:
Plus strand

Previous Assembly
chr6:44,126,557-44,152,138
(GRCh37/hg19 by Entrez Gene)
Size:
25,582 bases
Orientation:
Plus strand

chr6:44,126,548-44,152,139
(GRCh37/hg19 by Ensembl)
Size:
25,592 bases
Orientation:
Plus strand

Genomic View for CAPN11 Gene

Genes around CAPN11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CAPN11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CAPN11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CAPN11 Gene

Proteins for CAPN11 Gene

  • Protein details for CAPN11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UMQ6-CAN11_HUMAN
    Recommended name:
    Calpain-11
    Protein Accession:
    Q9UMQ6
    Secondary Accessions:
    • B2RA64
    • Q5T3G1
    • Q8N4R5

    Protein attributes for CAPN11 Gene

    Size:
    739 amino acids
    Molecular mass:
    84423 Da
    Quaternary structure:
    • Heterodimer of a large (catalytic) and a small (regulatory) subunit.
    SequenceCaution:
    • Sequence=AAH33733.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAG36761.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAB52137.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for CAPN11 Gene

Selected DME Specific Peptides for CAPN11 Gene

Q9UMQ6:
  • LGDCWLLA
  • YEALSGG
  • PSTFEPH
  • LEICNLTPD
  • LFEDPLFPA
  • TFWTNPQ
  • IDFDSFI
  • YAGIFHF
  • KLVFVHS
  • LLEKAYAK
  • EDFTGGV

Post-translational modifications for CAPN11 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibodies for research

  • Boster Bio Antibodies for CAPN11

Domains & Families for CAPN11 Gene

Gene Families for CAPN11 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for CAPN11 Gene

GenScript: Design optimal peptide antigens:
  • Calcium-activated neutral proteinase 11 (CAN11_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UMQ6

UniProtKB/Swiss-Prot:

CAN11_HUMAN :
  • Belongs to the peptidase C2 family.
Family:
  • Belongs to the peptidase C2 family.
genes like me logo Genes that share domains with CAPN11: view

Function for CAPN11 Gene

Molecular function for CAPN11 Gene

UniProtKB/Swiss-Prot Function:
Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction.
GENATLAS Biochemistry:
calpain 11,large polypeptide 11,calcium dependent,neutral cysteine proteinase,papain superfamily expressed in the testis

Enzyme Numbers (IUBMB) for CAPN11 Gene

Phenotypes From GWAS Catalog for CAPN11 Gene

Gene Ontology (GO) - Molecular Function for CAPN11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004198 calcium-dependent cysteine-type endopeptidase activity TAS,IBA 21873635
GO:0005509 calcium ion binding IEA --
GO:0008233 peptidase activity TAS 10409436
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CAPN11: view
genes like me logo Genes that share phenotypes with CAPN11: view

Animal Models for CAPN11 Gene

MGI Knock Outs for CAPN11:

miRNA for CAPN11 Gene

miRTarBase miRNAs that target CAPN11

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CAPN11

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CAPN11 Gene

Localization for CAPN11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CAPN11 Gene

Cytoplasmic vesicle, secretory vesicle, acrosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CAPN11 gene
Compartment Confidence
cytosol 3
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CAPN11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0005737 cytoplasm IBA 21873635
GO:0031410 cytoplasmic vesicle IEA --
genes like me logo Genes that share ontologies with CAPN11: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CAPN11 Gene

Pathways & Interactions for CAPN11 Gene

PathCards logo

SuperPathways for CAPN11 Gene

SuperPathway Contained pathways
1 DREAM Repression and Dynorphin Expression
.37
.36
.31
2 Degradation of the extracellular matrix
3 Apoptosis Pathway
4 ERK Signaling
.61
5 Integrin Pathway
.67
genes like me logo Genes that share pathways with CAPN11: view

Pathways by source for CAPN11 Gene

1 BioSystems pathway for CAPN11 Gene
1 Tocris pathway for CAPN11 Gene
5 Qiagen pathways for CAPN11 Gene
  • Calpain Protease Regulates Cellular Mechanics
  • Caspase Cascade
  • ERK Signaling
  • FAK1 Signaling
  • nNOS Signaling in Skeletal Muscle

Gene Ontology (GO) - Biological Process for CAPN11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA,IBA 21873635
genes like me logo Genes that share ontologies with CAPN11: view

No data available for SIGNOR curated interactions for CAPN11 Gene

Drugs & Compounds for CAPN11 Gene

(3) Drugs for CAPN11 Gene - From: HMDB and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6959
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

(2) Tocris Compounds for CAPN11 Gene

Compound Action Cas Number
Calpeptin Calpain and cathepsin L inhibitor 117591-20-5
MDL 28170 Potent, selective calpain and cathepsin B inhibitor 88191-84-8
genes like me logo Genes that share compounds with CAPN11: view

Transcripts for CAPN11 Gene

mRNA/cDNA for CAPN11 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CAPN11

Alternative Splicing Database (ASD) splice patterns (SP) for CAPN11 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^
SP1: - - -
SP2: -
SP3: - -
SP4: - -
SP5: -
SP6:
SP7: -

ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for CAPN11 Gene

GeneLoc Exon Structure for
CAPN11

Expression for CAPN11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CAPN11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

mRNA differential expression in normal tissues according to GTEx for CAPN11 Gene

This gene is overexpressed in Testis (x27.2).

Protein differential expression in normal tissues from HIPED for CAPN11 Gene

This gene is overexpressed in Liver (24.8), Spleen (12.7), Kidney (12.5), and Platelet (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CAPN11 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CAPN11

SOURCE GeneReport for Unigene cluster for CAPN11 Gene:

Hs.225953

mRNA Expression by UniProt/SwissProt for CAPN11 Gene:

Q9UMQ6-CAN11_HUMAN
Tissue specificity: Highest expression in testis.

Evidence on tissue expression from TISSUES for CAPN11 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with CAPN11: view

Primer products for research

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CAPN11 Gene

Orthologs for CAPN11 Gene

This gene was present in the common ancestor of animals.

Orthologs for CAPN11 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CAPN11 29 30
  • 98.83 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CAPN11 29 30
  • 84.16 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CAPN11 29 30
  • 84 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Capn11 29 16 30
  • 79.6 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Capn11 29
  • 79.2 (n)
Zebrafish
(Danio rerio)
Actinopterygii zgc:85932 30
  • 35 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CalpA 30 31
  • 36 (a)
ManyToMany
CalpB 30 31
  • 31 (a)
ManyToMany
CalpC 31
  • 29 (a)
Worm
(Caenorhabditis elegans)
Secernentea clp-6 30 31
  • 33 (a)
ManyToMany
clp-4 30
  • 31 (a)
ManyToMany
clp-1 30
  • 30 (a)
ManyToMany
clp-7 30 31
  • 28 (a)
ManyToMany
clp-3 30 31
  • 26 (a)
ManyToMany
Species where no ortholog for CAPN11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for CAPN11 Gene

ENSEMBL:
Gene Tree for CAPN11 (if available)
TreeFam:
Gene Tree for CAPN11 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CAPN11: view image
Alliance of Genome Resources:
Additional Orthologs for CAPN11

Paralogs for CAPN11 Gene

(14) SIMAP similar genes for CAPN11 Gene using alignment to 4 proteins:

  • CAN11_HUMAN
  • E9PIX3_HUMAN
  • E9PQZ4_HUMAN
  • F5GX91_HUMAN
genes like me logo Genes that share paralogs with CAPN11: view

Variants for CAPN11 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CAPN11 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs118045574 Benign: not provided 44,158,854(+) G/A
NM_007058.4(CAPN11):c.6G>A (p.Leu2=)
SYNONYMOUS
rs187597064 Benign: not provided 44,172,345(+) C/T
NM_007058.4(CAPN11):c.453C>T (p.Cys151=)
SYNONYMOUS
rs189429774 Likely Benign: not provided 44,169,963(+) C/T
NM_007058.4(CAPN11):c.397C>T (p.Gln133Ter)
NONSENSE
rs16871612 -- p.Val441Ala
rs34710081 -- p.Ile521Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CAPN11 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CAPN11 Gene

Variant ID Type Subtype PubMed ID
dgv1003e201 CNV deletion 23290073
dgv3506e59 CNV duplication 20981092
esv1158501 CNV deletion 17803354
esv1646210 CNV deletion 17803354
esv2292197 CNV deletion 18987734
esv2732004 CNV deletion 23290073
esv2732005 CNV deletion 23290073
esv2732007 CNV deletion 23290073
esv2732008 CNV deletion 23290073
esv2732009 CNV deletion 23290073
esv2732011 CNV deletion 23290073
esv3608825 CNV loss 21293372
esv3608826 CNV gain 21293372
nsv1110794 CNV insertion 24896259
nsv1135962 CNV deletion 24896259
nsv509132 CNV insertion 20534489
nsv510028 OTHER sequence alteration 20534489
nsv958346 CNV deletion 24416366

Variation tolerance for CAPN11 Gene

Residual Variation Intolerance Score: 85.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.36; 90.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CAPN11 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CAPN11
Leiden Open Variation Database (LOVD)
CAPN11

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAPN11 Gene

Disorders for CAPN11 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CAPN11 Gene - From: COP

Disorder Aliases PubMed IDs
coffin-siris syndrome 1
  • css1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CAPN11

genes like me logo Genes that share disorders with CAPN11: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CAPN11 Gene

Publications for CAPN11 Gene

  1. CAPN11: A calpain with high mRNA levels in testis and located on chromosome 6. (PMID: 10409436) Dear TN … Boehm T (Genomics 1999) 2 3 4 22
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. (PMID: 30021884) Fasci D … Heck AJR (Molecular & cellular proteomics : MCP 2018) 3
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C … Emili A (Nature 2015) 3
  5. Toward an understanding of the protein interaction network of the human liver. (PMID: 21988832) Wang J … Yang X (Molecular systems biology 2011) 3

Products for CAPN11 Gene

Sources for CAPN11 Gene