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    CAPN1 calpain 1 [ Homo sapiens (human) ]

    Gene ID: 823, updated on 3-Mar-2019

    Summary

    Official Symbol
    CAPN1provided by HGNC
    Official Full Name
    calpain 1provided by HGNC
    Primary source
    HGNC:HGNC:1476
    See related
    Ensembl:ENSG00000014216 MIM:114220
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CANP; muCL; CANP1; SPG76; CANPL1; muCANP
    Summary
    The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 1. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
    Expression
    Ubiquitous expression in esophagus (RPKM 94.2), skin (RPKM 48.8) and 24 other tissues See more
    Orthologs

    Genomic context

    See CAPN1 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (65181215..65212006)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (64948686..64979477)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene speedy/RINGO cell cycle regulator family member C Neighboring gene phosphoglycerate mutase 1 pseudogene 8 Neighboring gene uncharacterized LOC728975 Neighboring gene solute carrier family 22 member 20, pseudogene Neighboring gene DNA polymerase alpha 2, accessory subunit Neighboring gene uncharacterized LOC105369344

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Activation of the Ca(2+)-dependent protease, calpain, is involved in cytotoxic effects mediated by HIV-1 gp120 in neuroblastoma cultures PubMed
    Tat tat Calpain-mediated cleavage of HIV-1 Tat occurs in the C-terminus of this viral protein, between amino acids 68 and 69. The cleavage of Tat by calpain 1 increases neurotoxic effect of this viral protein PubMed
    tat HIV-1 Tat increases plasma membrane (PM) dopamine transporter (DAT) activity and calpain protease activity at the PM PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Alzheimer's disease, organism-specific biosystem (from KEGG)
      Alzheimer's disease, organism-specific biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Alzheimer's disease, conserved biosystem (from KEGG)
      Alzheimer's disease, conserved biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Alzheimers Disease, organism-specific biosystem (from WikiPathways)
      Alzheimers Disease, organism-specific biosystemThis pathway displays current genes, proteolytic events and other processes associated with the progression of Alzheimer's disease. This pathway was adapted from KEGG on 10/7/2011. Note: mitochondria...
    • Apoptosis, organism-specific biosystem (from KEGG)
      Apoptosis, organism-specific biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
    • Apoptosis, conserved biosystem (from KEGG)
      Apoptosis, conserved biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
    • Degradation of the extracellular matrix, organism-specific biosystem (from REACTOME)
      Degradation of the extracellular matrix, organism-specific biosystemMatrix metalloproteinases (MMPs), previously referred to as matrixins because of their role in degradation of the extracellular matrix (ECM), are zinc and calcium dependent proteases belonging to the...
    • Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models, organism-specific biosystem (from REACTOME)
      Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models, organism-specific biosystemPost-mitotic neurons do not have an active cell cycle. However, deregulation of Cyclin Dependent Kinase-5 (CDK5) activity in these neurons can aberrantly activate various components of cell cycle lea...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
      Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
    • Focal Adhesion, organism-specific biosystem (from WikiPathways)
      Focal Adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Formation of the cornified envelope, organism-specific biosystem (from REACTOME)
      Formation of the cornified envelope, organism-specific biosystemAs keratinocytes progress towards the upper epidermis, they undergo a unique process of cell death termed cornification (Eckhart et al. 2013). This involves the crosslinking of keratinocyte proteins ...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
    • Integrin-mediated Cell Adhesion, organism-specific biosystem (from WikiPathways)
      Integrin-mediated Cell Adhesion, organism-specific biosystemIntegrins are receptors that mediate attachment between a cell and the tissues surrounding it, which may be other cells or the extracellular matrix (ECM). They also play a role in cell signaling and ...
    • Keratinization, organism-specific biosystem (from REACTOME)
      Keratinization, organism-specific biosystemKeratins are the major structural protein of vertebrate epidermis, constituting up to 85% of a fully differentiated keratinocyte (Fuchs 1995). Keratins belong to a superfamily of intermediate filamen...
    • Neurodegenerative Diseases, organism-specific biosystem (from REACTOME)
      Neurodegenerative Diseases, organism-specific biosystemNeurodegenerative diseases manifest as the progressive dysfunction and loss of neurons, which is frequently accompanied by formation of misfolded protein deposits in the brain. Classification of neur...
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
    • Protein processing in endoplasmic reticulum, organism-specific biosystem (from KEGG)
      Protein processing in endoplasmic reticulum, organism-specific biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
    • Protein processing in endoplasmic reticulum, conserved biosystem (from KEGG)
      Protein processing in endoplasmic reticulum, conserved biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
    • Signaling events mediated by PTP1B, organism-specific biosystem (from Pathway Interaction Database)
      Signaling events mediated by PTP1B, organism-specific biosystem
      Signaling events mediated by PTP1B

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ56829

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calcium-dependent cysteine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    calcium-dependent cysteine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calcium-dependent cysteine-type endopeptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    calcium-dependent cysteine-type endopeptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cornification TAS
    Traceable Author Statement
    more info
     
    extracellular matrix disassembly TAS
    Traceable Author Statement
    more info
     
    mammary gland involution IEA
    Inferred from Electronic Annotation
    more info
     
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    positive regulation of cell proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    proteolysis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    receptor catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of NMDA receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of catalytic activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of macroautophagy NAS
    Non-traceable Author Statement
    more info
    PubMed 
    self proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome HDA PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    ficolin-1-rich granule lumen TAS
    Traceable Author Statement
    more info
     
    focal adhesion HDA PubMed 
    lysosome IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    calpain-1 catalytic subunit
    Names
    CANP 1
    calcium-activated neutral proteinase 1
    calpain 1, (mu/I) large subunit
    calpain mu-type
    calpain, large polypeptide L1
    calpain-1 large subunit
    cell proliferation-inducing gene 30 protein
    cell proliferation-inducing protein 30
    micromolar-calpain
    NP_001185797.1
    NP_001185798.1
    NP_005177.2
    XP_006718761.1
    XP_011543594.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_052817.1 RefSeqGene

      Range
      5001..35792
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001198868.1NP_001185797.1  calpain-1 catalytic subunit

      See identical proteins and their annotated locations for NP_001185797.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1, 2, and 3 all encode the same protein.
      Source sequence(s)
      AK315556, BC008751, DA788342, X04366
      Consensus CDS
      CCDS44644.1
      UniProtKB/Swiss-Prot
      P07384
      UniProtKB/TrEMBL
      B2RDI5
      Related
      ENSP00000435272.1, ENST00000533820.5
      Conserved Domains (3) summary
      cd00214
      Location:364524
      Calpain_III; Calpain, subdomain III. Calpains are calcium-activated cytoplasmic cysteine proteinases, participate in cytoskeletal remodeling processes, cell differentiation, apoptosis and signal transduction. Catalytic domain and the two calmodulin-like domains are ...
      pfam00648
      Location:56352
      Peptidase_C2; Calpain family cysteine protease
      cd16198
      Location:546714
      EFh_PEF_CAPN1; Penta-EF hand, calcium binding motifs, found in mu-type calpain (CAPN1)
    2. NM_001198869.1NP_001185798.1  calpain-1 catalytic subunit

      See identical proteins and their annotated locations for NP_001185798.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same protein.
      Source sequence(s)
      AK301538, BC008751, BC075862, DC372552
      Consensus CDS
      CCDS44644.1
      UniProtKB/Swiss-Prot
      P07384
      UniProtKB/TrEMBL
      B4DWH5
      Related
      ENSP00000434176.1, ENST00000524773.5
      Conserved Domains (3) summary
      cd00214
      Location:364524
      Calpain_III; Calpain, subdomain III. Calpains are calcium-activated cytoplasmic cysteine proteinases, participate in cytoskeletal remodeling processes, cell differentiation, apoptosis and signal transduction. Catalytic domain and the two calmodulin-like domains are ...
      pfam00648
      Location:56352
      Peptidase_C2; Calpain family cysteine protease
      cd16198
      Location:546714
      EFh_PEF_CAPN1; Penta-EF hand, calcium binding motifs, found in mu-type calpain (CAPN1)
    3. NM_005186.3NP_005177.2  calpain-1 catalytic subunit

      See identical proteins and their annotated locations for NP_005177.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same protein.
      Source sequence(s)
      BC008751, BE018156, X04366
      Consensus CDS
      CCDS44644.1
      UniProtKB/Swiss-Prot
      P07384
      Related
      ENSP00000279247.6, ENST00000279247.10
      Conserved Domains (3) summary
      cd00214
      Location:364524
      Calpain_III; Calpain, subdomain III. Calpains are calcium-activated cytoplasmic cysteine proteinases, participate in cytoskeletal remodeling processes, cell differentiation, apoptosis and signal transduction. Catalytic domain and the two calmodulin-like domains are ...
      pfam00648
      Location:56352
      Peptidase_C2; Calpain family cysteine protease
      cd16198
      Location:546714
      EFh_PEF_CAPN1; Penta-EF hand, calcium binding motifs, found in mu-type calpain (CAPN1)

    RNA

    1. NR_040008.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate 5' splice pattern, compared to variant 1. It is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK315556, BC008751, BE018156, DC365116, X04366

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

      Range
      65181215..65212006
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006718698.2XP_006718761.1  calpain-1 catalytic subunit isoform X1

      See identical proteins and their annotated locations for XP_006718761.1

      UniProtKB/Swiss-Prot
      P07384
      Related
      ENSP00000431686.1, ENST00000533129.5
      Conserved Domains (3) summary
      cd00214
      Location:364524
      Calpain_III; Calpain, subdomain III. Calpains are calcium-activated cytoplasmic cysteine proteinases, participate in cytoskeletal remodeling processes, cell differentiation, apoptosis and signal transduction. Catalytic domain and the two calmodulin-like domains are ...
      pfam00648
      Location:56352
      Peptidase_C2; Calpain family cysteine protease
      cd16198
      Location:546714
      EFh_PEF_CAPN1; Penta-EF hand, calcium binding motifs, found in mu-type calpain (CAPN1)
    2. XM_011545292.1XP_011543594.1  calpain-1 catalytic subunit isoform X1

      See identical proteins and their annotated locations for XP_011543594.1

      UniProtKB/Swiss-Prot
      P07384
      Related
      ENSP00000431984.1, ENST00000527323.5
      Conserved Domains (3) summary
      cd00214
      Location:364524
      Calpain_III; Calpain, subdomain III. Calpains are calcium-activated cytoplasmic cysteine proteinases, participate in cytoskeletal remodeling processes, cell differentiation, apoptosis and signal transduction. Catalytic domain and the two calmodulin-like domains are ...
      pfam00648
      Location:56352
      Peptidase_C2; Calpain family cysteine protease
      cd16198
      Location:546714
      EFh_PEF_CAPN1; Penta-EF hand, calcium binding motifs, found in mu-type calpain (CAPN1)
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