Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CAPNS1 Gene

Aliases for CAPNS1 Gene

  • Calpain Small Subunit 1 2 3 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
  • 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
  • GC19P036141
  • GC19P036147
  • GC19P036342
  • GC19P036434
  • GC19P036596

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 B Cell Receptor Signaling Pathway (sino) and Keratinization. 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 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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for CAPNS1 Gene

Promoters and enhancers for CAPNS1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J036138 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 +1.0 956 3.7 CLOCK MLX FEZF1 IRF4 YY1 ZNF213 ZNF143 ZNF548 SP3 NFYC CAPNS1 LOC105372385 GC19P036884 ZNF345 TMEM147-AS1 ZNF567 ZNF850 HAUS5 ZNF790-AS1 RBM42
GH19J035897 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6 -235.5 -235517 13 CLOCK FEZF1 IRF4 YY1 ZNF213 ZNF143 ZNF548 SP3 NFYC ZFP41 NFKBID TYROBP HCST ENSG00000280194 ZNF567 TMEM147-AS1 ZNF790 ZNF566 ZNF529 ZNF260
GH19J036770 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 6.8 +632.7 632723 2.8 HDGF PKNOX1 CLOCK SMAD1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF850 LOC728485 ZNF345 ZNF567 ZNF383 ZNF527 ZNF585B ZNF790 ZNF571 ZFP30
GH19J036149 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 4.9 +12.0 12013 4.6 SCRT1 ZNF121 KLF1 POLR2A RBM22 ZBTB33 ZNF623 COX7A1 PIR51983 CAPNS1 ZNF565 ZNF461 GC19P036865 GC19P036884
GH19J036159 Enhancer 0.6 ENCODE dbSUPER 12.6 +21.3 21272 1.9 ZNF362 NFE2 CAPNS1 POLR2I TBCB OVOL3 SDHAF1 ZNF565 GC19P036863 GC19M039131
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CAPNS1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CAPNS1 gene promoter:
  • deltaCREB
  • CREB
  • GATA-2
  • SRF (504 AA)
  • SRF
  • LCR-F1
  • Pax-2a
  • Pax-2
  • AML1a

Genomic Locations for CAPNS1 Gene

Genomic Locations for CAPNS1 Gene
chr19:36,139,575-36,150,353
(GRCh38/hg38)
Size:
10,779 bases
Orientation:
Plus strand
chr19:36,630,477-36,641,255
(GRCh37/hg19)
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 Lys172
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CAPNS1 Gene

Domains & Families for CAPNS1 Gene

Gene Families for CAPNS1 Gene

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

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.

Phenotypes From GWAS Catalog for CAPNS1 Gene

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 IDA 17646163
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

miRNA for CAPNS1 Gene

miRTarBase miRNAs that target CAPNS1

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CAPNS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA,TAS --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IDA 14559243
GO:0070062 extracellular exosome HDA 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
calcium Approved Nutra 0
PD150606 Experimental Pharma Target 0
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

(1) Additional Compounds for CAPNS1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(2) Tocris Compounds for CAPNS1 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 CAPNS1: view

Transcripts for CAPNS1 Gene

Unigene Clusters for CAPNS1 Gene

Calpain, small subunit 1:
Representative Sequences:

Clone 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, 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(3.3)
  • Blood(2.8)
  • Lymph node(2.7)
  • Spleen(2.7)
  • Bone(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

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 33
  • 99.36 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CAPNS1 34 33
  • 91.67 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CAPNS1 34
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CAPNS1 34 33
  • 87.31 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CAPNS1 34
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Capns1 16 34 33
  • 84.45 (n)
rat
(Rattus norvegicus)
Mammalia Capns1 33
  • 83.58 (n)
lizard
(Anolis carolinensis)
Reptilia CAPNS1 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia capns2 33
  • 71.96 (n)
Str.273 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.23845 33
zebrafish
(Danio rerio)
Actinopterygii capns1a 34 33
  • 67.62 (n)
ManyToMany
capns1b 34
  • 66 (a)
ManyToMany
capns1 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9382 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4609 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CAPNS1: view image

Paralogs for CAPNS1 Gene

Paralogs for CAPNS1 Gene

(11) SIMAP similar genes for CAPNS1 Gene using alignment to 10 proteins:

  • CPNS1_HUMAN
  • K7EIV0_HUMAN
  • K7EKD8_HUMAN
  • K7ELJ7_HUMAN
  • K7EM73_HUMAN
  • K7EMQ1_HUMAN
  • K7ES78_HUMAN
  • S4R3F9_HUMAN
  • U3KPR7_HUMAN
  • U3KQE2_HUMAN

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 Variation AA Info Type
rs1000092115 -- 36,141,787(+) G/C intron_variant
rs1000130897 -- 36,145,025(+) A/G intron_variant
rs1000436841 -- 36,145,447(+) C/T intron_variant
rs1000644142 -- 36,148,036(+) C/A intron_variant
rs1000676557 -- 36,143,680(+) T/G 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)

Additional Variant Information 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

Additional Disease Information for CAPNS1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 research 1986) 2 3 4 58
  2. Nucleotide sequence of a cDNA coding for the small subunit of human calcium-dependent protease. (PMID: 3016651) Ohno S … Suzuki K (Nucleic acids research 1986) 2 3 4 58
  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 SD … DREAM investigators (Diabetes care 2010) 3 44 58
  4. 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 (Journal of medical virology 2010) 3 22 58
  5. An integrated expression phenotype mapping approach defines common variants in LEP, ALOX15 and CAPNS1 associated with induction of IL-6. (PMID: 19942621) Fairfax BP … Knight JC (Human molecular genetics 2010) 3 22 58

Products for CAPNS1 Gene

Sources for CAPNS1 Gene

Content
Loading form....