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Aliases for CAPNS1 Gene

Aliases for CAPNS1 Gene

  • Calpain Small Subunit 1 2 3 5
  • Calcium-Activated Neutral Proteinase Small Subunit 3 4
  • Calcium-Dependent Protease Small Subunit 1 3 4
  • Calpain Regulatory Subunit 3 4
  • CANP Small Subunit 3 4
  • CAPN4 3 4
  • CSS1 3 4
  • CDPS 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
  • GC19P036141
  • GC19P036147

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 Arrhythmogenic right ventricular cardiomyopathy (ARVC). 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 CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CAPNS1 Gene

Genomics for CAPNS1 Gene

Regulatory Elements for CAPNS1 Gene

Enhancers for CAPNS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G035897 1.8 FANTOM5 ENCODE dbSUPER 6 -235.5 -235518 13.0 CREB3L1 FEZF1 YY1 ZNF143 ZNF548 ZNF263 SP3 NFYC TBX21 ZFP41 TMEM147-AS1 ZNF345 ZNF850 ZNF567 ZNF529 RBM42 KMT2B ZFP14 ZNF260 ZNF792
GH19G036159 0.7 ENCODE dbSUPER 12.6 +21.3 21273 1.9 ZNF362 NFE2 CAPNS1 POLR2I TBCB OVOL3 SDHAF1 ZNF565 GC19P036360 GC19M038244
GH19G036770 1.1 ENCODE 6.8 +632.7 632724 2.8 HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF302 ZNF345 ZNF383 ZNF567 ZNF850 ZNF585B ZNF461 ZFP82 ZNF529 ZNF790 ZNF793
GH19G036100 0.4 ENCODE 11.4 -39.0 -38981 0.1 ZIC2 ZNF18 CAPNS1 GC19P036363 ENSG00000280023
GH19G036149 0.9 ENCODE dbSUPER 4.9 +12.0 12013 4.6 SCRT1 KLF1 AGO1 ZNF623 ZNF311 ZNF121 POLR2A ZNF169 ZNF547 ZBTB33 ZNF345 COX7A1 ZNF850 ZNF567 ZNF829 TMEM147-AS1 ZNF790 CAPNS1 ZNF565 ZNF461
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CAPNS1 on UCSC Golden Path with GeneCards custom track

Promoters for CAPNS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000109118 825 2001 MLX CREB3L1 AGO1 FEZF1 YY1 ZNF143 ZNF548 SP3 TBX21 ZNF610

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

Post-translational modifications for CAPNS1 Gene

  • Ubiquitination at posLast=172172
  • 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.
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.

Gene Ontology (GO) - Molecular Function for CAPNS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity TAS --
GO:0004198 calcium-dependent cysteine-type endopeptidase activity TAS 8702541
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 10639123
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CAPNS1: view
genes like me logo Genes that share phenotypes with CAPNS1: view

Animal Models for CAPNS1 Gene

MGI Knock Outs for CAPNS1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , 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
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 CAPNS1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
nucleus 3
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CAPNS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IDA 14559243
GO:0070062 extracellular exosome IDA 19199708
genes like me logo Genes that share ontologies with CAPNS1: view

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:0006508 proteolysis IEA --
GO:0008284 positive regulation of cell proliferation TAS 8702541
GO:0016241 regulation of macroautophagy NAS 17264674
GO:0022617 extracellular matrix disassembly TAS --
GO:0070268 cornification 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
PD150606 Experimental Pharma Target 0
calcium Nutra 0
Acetyl-Calpastatin (184-210) (human) Pharma Calpain I/II inhibitor, Selective calpain inhibitor 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
MG 132
133407-82-6

(2) Tocris Compounds for CAPNS1 Gene

Compound Action Cas Number
Acetyl-Calpastatin (184-210) (human) Selective calpain inhibitor 123714-50-1
MG 132 Proteasome and calpain inhibitor. Inhibits NF-kappaB activation 133407-82-6
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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for CAPNS1 Gene

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



Protein tissue co-expression partners for CAPNS1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CAPNS1 Gene:

CAPNS1

SOURCE GeneReport for Unigene cluster for CAPNS1 Gene:

Hs.515371

Evidence on tissue expression from TISSUES for CAPNS1 Gene

  • Lung(4.9)
  • Pancreas(4.8)
  • Skin(4.8)
  • Muscle(4.7)
  • Liver(4.5)
  • Nervous system(4.5)
  • Intestine(3.8)
  • Eye(3.7)
  • Heart(3.4)
  • Kidney(3.2)
  • Blood(2.8)
  • Spleen(2.7)
  • Bone(2.6)
  • Lymph node(2.6)
  • Bone marrow(2.5)
  • Stomach(2.5)
  • Adrenal gland(2.1)
  • Gall bladder(2.1)
  • Thyroid gland(2.1)
genes like me logo Genes that share expression patterns with CAPNS1: view

Primer 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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 35
  • 99.36 (n)
cow
(Bos Taurus)
Mammalia CAPNS1 34 35
  • 91.67 (n)
oppossum
(Monodelphis domestica)
Mammalia CAPNS1 35
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CAPNS1 34 35
  • 87.31 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CAPNS1 35
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Capns1 34 16 35
  • 84.45 (n)
rat
(Rattus norvegicus)
Mammalia Capns1 34
  • 83.58 (n)
lizard
(Anolis carolinensis)
Reptilia CAPNS1 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia capns2 34
  • 71.96 (n)
Str.273 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.23845 34
zebrafish
(Danio rerio)
Actinopterygii capns1a 34 35
  • 67.62 (n)
capns1b 35
  • 66 (a)
ManyToMany
capns1 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9382 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4609 35
  • 11 (a)
OneToMany
Species where no ortholog for CAPNS1 was found in the sources mined by GeneCards:
  • 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
rs1000092115 -- 36,141,787(+) GCCAC(C/G)GCCAC intron-variant, upstream-variant-2KB
rs1000130897 -- 36,145,025(+) GAGAA(A/G)GTGAT intron-variant
rs1000436841 -- 36,145,447(+) TGAAC(C/T)GCCTG intron-variant
rs1000644142 -- 36,148,036(+) CATTG(A/C)ACTCC intron-variant
rs1000676557 -- 36,143,680(+) CACAG(G/T)GAAAC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv579424 CNV loss 21841781

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 64
  2. Nucleotide sequence of a cDNA coding for the small subunit of human calcium-dependent protease. (PMID: 3016651) Ohno S. … Suzuki K. (Nucleic Acids Res. 1986) 2 3 4 64
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  4. 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 22 64
  5. 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 22 64

Products for CAPNS1 Gene

Sources for CAPNS1 Gene

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