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    CAPN1 calpain 1 [ Homo sapiens (human) ]

    Gene ID: 823, updated on 10-Oct-2024

    Summary

    Official Symbol
    CAPN1provided by HGNC
    Official Full Name
    calpain 1provided by HGNC
    Primary source
    HGNC:HGNC:1476
    See related
    Ensembl:ENSG00000014216 MIM:114220; AllianceGenome:HGNC:1476
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See CAPN1 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (65181373..65212006)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (65174678..65205290)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (64948844..64979477)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene hESC enhancers GRCh37_chr11:64949086-64949875 and GRCh37_chr11:64949876-64950664 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64950665-64951454 Neighboring gene phosphoglycerate mutase 1 pseudogene 8 Neighboring gene speedy/RINGO cell cycle regulator family member C Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:64952638-64953204 Neighboring gene CAPN1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64953771-64954337 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64955709-64956255 Neighboring gene MPRA-validated peak1300 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64971432-64972419 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4949 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:64976880-64978079 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:64978770-64978973 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64980323-64981239 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64981240-64982155 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64984183-64984746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64984747-64985310 Neighboring gene solute carrier family 22 member 20, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr11:64989237-64989466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4951 Neighboring gene MPRA-validated peak1301 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:65011321-65011846 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3512 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:65028571-65029458 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:65029459-65030344 Neighboring gene DNA polymerase alpha 2, accessory subunit Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:65046741-65047940 Neighboring gene uncharacterized LOC105369344 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65068776-65069313 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65069314-65069850

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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 Functions

    What'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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ56829

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    acts_upstream_of NMDA selective glutamate receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in mammary gland involution IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell population proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in proteolysis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in proteolysis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in receptor catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of catalytic activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of macroautophagy NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in self proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of calpain complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cornified envelope IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in ficolin-1-rich granule lumen TAS
    Traceable Author Statement
    more info
     
    located_in focal adhesion HDA PubMed 
    located_in lysosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in 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
    XP_054226070.1
    XP_054226071.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5714..35792
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001198868.2NP_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, X04366
      Consensus CDS
      CCDS44644.1
      UniProtKB/Swiss-Prot
      P07384, Q2TTR0, Q6DHV4
      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_001198869.2NP_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
      Consensus CDS
      CCDS44644.1
      UniProtKB/Swiss-Prot
      P07384, Q2TTR0, Q6DHV4
      UniProtKB/TrEMBL
      B2RDI5
      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_005186.4NP_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, X04366
      Consensus CDS
      CCDS44644.1
      UniProtKB/Swiss-Prot
      P07384, Q2TTR0, Q6DHV4
      UniProtKB/TrEMBL
      B2RDI5
      Related
      ENSP00000279247.7, ENST00000279247.11
      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_040008.2 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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      65181373..65212006
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006718698.3XP_006718761.1  calpain-1 catalytic subunit isoform X1

      See identical proteins and their annotated locations for XP_006718761.1

      UniProtKB/Swiss-Prot
      P07384, Q2TTR0, Q6DHV4
      UniProtKB/TrEMBL
      B2RDI5
      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_011545292.2XP_011543594.1  calpain-1 catalytic subunit isoform X1

      See identical proteins and their annotated locations for XP_011543594.1

      UniProtKB/Swiss-Prot
      P07384, Q2TTR0, Q6DHV4
      UniProtKB/TrEMBL
      B2RDI5
      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)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      65174678..65205290
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370095.1XP_054226070.1  calpain-1 catalytic subunit isoform X1

    2. XM_054370096.1XP_054226071.1  calpain-1 catalytic subunit isoform X1