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Aliases for CAPNS1 Gene

Aliases for CAPNS1 Gene

  • Calpain Small Subunit 1 2 3
  • Calcium-Activated Neutral Proteinase Small Subunit 3 4
  • Calcium-Dependent Protease Small Subunit 1 3 4
  • Calpain Regulatory Subunit 3 4
  • Calpain, Small Subunit 1 3 5
  • CANP Small Subunit 3 4
  • CAPN4 3 4
  • CDPS 3 4
  • CSS1 3 4
  • Calcium-Dependent Protease, Small Subunit 3
  • Calcium-Dependent Protease Small Subunit 4
  • Calpain 4, Small Subunit (30K) 3
  • Calpain, Small Polypeptide 3
  • CALPAIN4 3
  • CANPS 3
  • CAPNS 4
  • CANP 3

External Ids for CAPNS1 Gene

Previous HGNC Symbols for CAPNS1 Gene

  • CAPN4

Previous GeneCards Identifiers for CAPNS1 Gene

  • GC19P037270
  • GC19P037079
  • GC19P041306
  • GC19P041322
  • GC19P036630
  • GC19P033136

Summaries for CAPNS1 Gene

Entrez Gene Summary for CAPNS1 Gene

  • This gene is a member of the calpain small subunit family. Calpains are calcium-dependent cysteine proteinases that are widely distributed in mammalian cells. Calpains operate as heterodimers, comprising a specific large catalytic subunit (calpain 1 subunit in Calpain I, and calpain 2 subunit in Calpain II), and a common small regulatory subunit encoded by this gene. This encoded protein is essential for the stability and function of both calpain heterodimers, whose proteolytic activities influence various cellular functions including apoptosis, proliferation, migration, adhesion, and autophagy. Calpains have been implicated in neurodegenerative processes, such as myotonic dystrophy. A pseudogene of this gene has been defined on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

GeneCards Summary for CAPNS1 Gene

CAPNS1 (Calpain Small Subunit 1) is a Protein Coding gene. Diseases associated with CAPNS1 include chronic neutrophilic leukemia. Among its related pathways are Degradation of the extracellular matrix and Integrin Pathway. GO annotations related to this gene include calcium ion binding and calcium-dependent cysteine-type endopeptidase activity. An important paralog of this gene is CAPNS2.

UniProtKB/Swiss-Prot for CAPNS1 Gene

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

Tocris Summary for CAPNS1 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.

Gene Wiki entry for CAPNS1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CAPNS1 Gene

Genomics for CAPNS1 Gene

Regulatory Elements for CAPNS1 Gene

Promoters for CAPNS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CAPNS1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CAPNS1 Gene

Chromosome:
19
Start:
36,139,575 bp from pter
End:
36,150,353 bp from pter
Size:
10,779 bases
Orientation:
Plus strand

Genomic View for CAPNS1 Gene

Genes around CAPNS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CAPNS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CAPNS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CAPNS1 Gene

Proteins for CAPNS1 Gene

  • Protein details for CAPNS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04632-CPNS1_HUMAN
    Recommended name:
    Calpain small subunit 1
    Protein Accession:
    P04632
    Secondary Accessions:
    • A8K0P1
    • Q8WTX3
    • Q96EW0

    Protein attributes for CAPNS1 Gene

    Size:
    268 amino acids
    Molecular mass:
    28316 Da
    Quaternary structure:
    • Homodimer or heterodimer of a large (catalytic) and a small (regulatory) subunit. In presence of calcium, the heterodimer dissociates (By similarity).

    Three dimensional structures from OCA and Proteopedia for CAPNS1 Gene

neXtProt entry for CAPNS1 Gene

Proteomics data for CAPNS1 Gene at MOPED

Post-translational modifications for CAPNS1 Gene

  • Ubiquitination at Lys 172
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for CAPNS1 Gene

Domains & Families for CAPNS1 Gene

Gene Families for CAPNS1 Gene

Protein Domains for CAPNS1 Gene

Suggested Antigen Peptide Sequences for CAPNS1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P04632

UniProtKB/Swiss-Prot:

CPNS1_HUMAN :
  • The contact of the 5th EF-hand domain from each monomer allows the formation of the homodimer and also appears to mediate the contact between the large catalytic subunit and small regulatory subunit for the formation of the heterodimer.
Domain:
  • The contact of the 5th EF-hand domain from each monomer allows the formation of the homodimer and also appears to mediate the contact between the large catalytic subunit and small regulatory subunit for the formation of the heterodimer.
  • EF-hand domains are paired. EF-hand 1 is paired with EF-hand 2 and EF-hand 3 is paired with EF-hand 4. The fifth EF-hand domain, left unpaired, does not bind the calcium but is responsible of the dimerization by EF-embrace. The first four EF-hand domains bind calcium, however it is not sure if the binding of EF-hand 4 to calcium is physiologically relevant.
  • Contains 5 EF-hand domains.
genes like me logo Genes that share domains with CAPNS1: view

Function for CAPNS1 Gene

Molecular function for CAPNS1 Gene

UniProtKB/Swiss-Prot Function:
Regulatory subunit of the calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction.
genes like me logo Genes that share phenotypes with CAPNS1: view

Animal Models for CAPNS1 Gene

MGI Knock Outs for CAPNS1:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CAPNS1 Gene

Localization for CAPNS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CAPNS1 Gene

Cytoplasm. Cell membrane. Note=Translocates to the plasma membrane upon calcium binding. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CAPNS1 Gene COMPARTMENTS Subcellular localization image for CAPNS1 gene
Compartment Confidence
cytosol 5
extracellular 5
plasma membrane 4
nucleus 3
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for CAPNS1 Gene

Pathways & Interactions for CAPNS1 Gene

genes like me logo Genes that share pathways with CAPNS1: view

Gene Ontology (GO) - Biological Process for CAPNS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0022617 extracellular matrix disassembly TAS --
genes like me logo Genes that share ontologies with CAPNS1: view

No data available for SIGNOR curated interactions for CAPNS1 Gene

Drugs & Compounds for CAPNS1 Gene

(5) Drugs for CAPNS1 Gene - From: DrugBank, Novoseek, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
PD150606 Experimental Pharma Target 0
calcium Nutra 0
MDL 28170 Pharma Calpain and cathepsin B inhibitor, selective, Potent, selective calpain and cathepsin B inhibitor 0

(5) Additional Compounds for CAPNS1 Gene - From: Tocris and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Calpeptin
117591-20-5
Acetyl-Calpastatin (184-210) (human)
123714-50-1
MG 132
133407-82-6
PD 150606
179528-45-1
genes like me logo Genes that share compounds with CAPNS1: view

Transcripts for CAPNS1 Gene

Unigene Clusters for CAPNS1 Gene

Calpain, small subunit 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CAPNS1 Gene

No ASD Table

Relevant External Links for CAPNS1 Gene

GeneLoc Exon Structure for
CAPNS1
ECgene alternative splicing isoforms for
CAPNS1

Expression for CAPNS1 Gene

mRNA expression in normal human tissues for CAPNS1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CAPNS1 Gene



SOURCE GeneReport for Unigene cluster for CAPNS1 Gene Hs.515371

genes like me logo Genes that share expression patterns with CAPNS1: view

Protein tissue co-expression partners for CAPNS1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CAPNS1 Gene

Orthologs for CAPNS1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CAPNS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CAPNS1 36
  • 99 (a)
OneToOne
CAPNS1 35
  • 99.36 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia CAPNS1 35
  • 91.67 (n)
  • 96.7 (a)
CAPNS1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CAPNS1 36
  • 96 (a)
OneToOne
CAPNS1 35
  • 87.31 (n)
  • 93.28 (a)
mouse
(Mus musculus)
Mammalia Capns1 16
Capns1 36
  • 95 (a)
OneToOne
Capns1 35
  • 84.45 (n)
  • 90.67 (a)
oppossum
(Monodelphis domestica)
Mammalia CAPNS1 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CAPNS1 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Capns1 35
  • 83.58 (n)
  • 88.81 (a)
lizard
(Anolis carolinensis)
Reptilia CAPNS1 36
  • 82 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.23845 35
tropical clawed frog
(Silurana tropicalis)
Amphibia capns2 35
  • 71.96 (n)
  • 77.4 (a)
Str.273 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9382 35
zebrafish
(Danio rerio)
Actinopterygii capns1 35
capns1a 35
  • 67.62 (n)
  • 68.9 (a)
capns1a 36
  • 68 (a)
ManyToMany
capns1b 36
  • 66 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4609 36
  • 11 (a)
OneToMany
Species with no ortholog for CAPNS1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CAPNS1 Gene

ENSEMBL:
Gene Tree for CAPNS1 (if available)
TreeFam:
Gene Tree for CAPNS1 (if available)

Paralogs for CAPNS1 Gene

Paralogs for CAPNS1 Gene

Pseudogenes.org Pseudogenes for CAPNS1 Gene

genes like me logo Genes that share paralogs with CAPNS1: view

Variants for CAPNS1 Gene

Sequence variations from dbSNP and Humsavar for CAPNS1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs17878750 - 36,146,261(+) GGAAC(A/G)TGGAT reference, missense
rs14100 -- 36,149,867(+) CTCAC(C/T)GCCTT utr-variant-3-prime
rs1049339 -- 36,149,862(+) GCCCC(C/T)TCACC utr-variant-3-prime
rs5827950 -- 36,145,222(+) TTTTT(-/T)GAGAC intron-variant
rs4806281 -- 36,146,491(+) CCAGA(C/T)AGTGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CAPNS1 Gene

Variant ID Type Subtype PubMed ID
dgv3854n71 CNV Loss 21882294
dgv3855n71 CNV Loss 21882294

Variation tolerance for CAPNS1 Gene

Residual Variation Intolerance Score: 37.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.68; 57.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CAPNS1 Gene

HapMap Linkage Disequilibrium report
CAPNS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAPNS1 Gene

Disorders for CAPNS1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CAPNS1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
chronic neutrophilic leukemia
  • cnl
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CAPNS1

Genetic Association Database (GAD)
CAPNS1
Human Genome Epidemiology (HuGE) Navigator
CAPNS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CAPNS1
genes like me logo Genes that share disorders with CAPNS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CAPNS1 Gene

Publications for CAPNS1 Gene

  1. Gene organization of the small subunit of human calcium-activated neutral protease. (PMID: 3024120) Miyake S. … Suzuki K. (Nucleic Acids Res. 1986) 2 3 4 67
  2. An integrated expression phenotype mapping approach defines common variants in LEP, ALOX15 and CAPNS1 associated with induction of IL-6. (PMID: 19942621) Fairfax B.P. … Knight J.C. (Hum. Mol. Genet. 2010) 3 23
  3. Hepatitis B virus X protein upregulates expression of calpain small subunit 1 via nuclear factor-kappaB/p65 in hepatoma cells. (PMID: 20419804) Zhang F. … Zhang X. (J. Med. Virol. 2010) 3 23
  4. NRF-1, and AP-1 regulate the promoter of the human calpain small subunit 1 (CAPNS1) gene. (PMID: 18234454) Asangani I.A. … Allgayer H. (Gene 2008) 3 23
  5. The calpain system as a modulator of stress/damage response. (PMID: 17264674) Demarchi F. … Schneider C. (Cell Cycle 2007) 3 23

Products for CAPNS1 Gene

Sources for CAPNS1 Gene

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