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    CAPN6 calpain 6 [ Homo sapiens (human) ]

    Gene ID: 827, updated on 28-Oct-2024

    Summary

    Official Symbol
    CAPN6provided by HGNC
    Official Full Name
    calpain 6provided by HGNC
    Primary source
    HGNC:HGNC:1483
    See related
    Ensembl:ENSG00000077274 MIM:300146; AllianceGenome:HGNC:1483
    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
    CANPX; CAPNX; CalpM; DJ914P14.1
    Summary
    Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is highly expressed in the placenta. Its C-terminal region lacks any homology to the calmodulin-like domain of other calpains. The protein lacks critical active site residues and thus is suggested to be proteolytically inactive. The protein may play a role in tumor formation by inhibiting apoptosis and promoting angiogenesis. [provided by RefSeq, Nov 2009]
    Expression
    Biased expression in placenta (RPKM 59.5), endometrium (RPKM 13.7) and 5 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CAPN6 in Genome Data Viewer
    Location:
    Xq23
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (111245099..111270483, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (109693306..109718689, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (110488327..110513711, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene p21 (RAC1) activated kinase 3 Neighboring gene NANOG hESC enhancer GRCh37_chrX:110438658-110439159 Neighboring gene FCF1 pseudogene 4 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:110489468-110490667 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:110498437-110498970 Neighboring gene glutamate dehydrogenase 1 pseudogene 9 Neighboring gene doublecortin Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:110654454-110654986 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:110654987-110655518 Neighboring gene RNA, U6 small nuclear 496, pseudogene

    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

    Replication interactions

    Interaction Pubs
    Knockdown of calpain 6 (CAPN6) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT enables calcium-dependent cysteine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables microtubule binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in microtubule bundle formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    NOT involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in spindle microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    calpain-6
    Names
    calpain-like protease X-linked
    calpamodulin

    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_015962.2 RefSeqGene

      Range
      5000..30384
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014289.4NP_055104.2  calpain-6

      See identical proteins and their annotated locations for NP_055104.2

      Status: REVIEWED

      Source sequence(s)
      AL031117
      Consensus CDS
      CCDS14555.1
      UniProtKB/Swiss-Prot
      D3DUY7, Q9UEQ1, Q9UJA8, Q9Y6Q1
      UniProtKB/TrEMBL
      B2R6T2
      Related
      ENSP00000317214.1, ENST00000324068.2
      Conserved Domains (3) summary
      smart00230
      Location:13351
      CysPc; Calpain-like thiol protease family
      cd04046
      Location:514639
      C2_Calpain; C2 domain present in Calpain proteins
      cd00214
      Location:349497
      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 ...

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      111245099..111270483 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      109693306..109718689 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)