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    CAPN8 calpain 8 [ Homo sapiens (human) ]

    Gene ID: 388743, updated on 15-Jun-2019

    Summary

    Official Symbol
    CAPN8provided by HGNC
    Official Full Name
    calpain 8provided by HGNC
    Primary source
    HGNC:HGNC:1485
    See related
    Ensembl:ENSG00000203697
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    nCL-2
    Annotation information
    Note: This gene aligns across a gap in the GRCh38 reference genome assembly, and therefore, the 5' end of this gene was annotated on NT_167186.2 and the 3' end was annotated on NT_004487.20 in NCBI's Homo sapiens Annotation Release 106. [17 Jun 2014]
    Annotation category: suggests misassembly
    Expression
    Biased expression in stomach (RPKM 65.0), lung (RPKM 7.1) and 2 other tissues See more
    Orthologs

    Genomic context

    See CAPN8 in Genome Data Viewer
    Location:
    1q41
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (223541609..223665734, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (223714972..223853436, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 185 Neighboring gene uncharacterized LOC105373034 Neighboring gene small nuclear ribonucleoprotein polypeptide E pseudogene 10 Neighboring gene uncharacterized LOC105373281 Neighboring gene RNA, U6 small nuclear 1248, pseudogene Neighboring gene calpain 2 Neighboring gene uncharacterized LOC105373046

    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

    Pathways from BioSystems

    • 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...
    • 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...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    calcium-dependent cysteine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    digestion IEA
    Inferred from Electronic Annotation
    more info
     
    proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    calpain-8
    Names
    new calpain 2
    stomach-specific M-type calpain
    NP_001137434.1
    XP_016856754.1
    XP_016856755.1
    XP_016856756.1
    XP_016856757.1

    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.

    mRNA and Protein(s)

    1. NM_001143962.1NP_001137434.1  calpain-8

      See identical proteins and their annotated locations for NP_001137434.1

      Status: VALIDATED

      Source sequence(s)
      BC157893, BG187068, BM739137, BM843240, DA874912
      Consensus CDS
      CCDS73038.1
      UniProtKB/Swiss-Prot
      A6NHC0
      Related
      ENSP00000355837.6, ENST00000366872.9
      Conserved Domains (4) summary
      PTZ00183
      Location:618692
      PTZ00183; centrin; Provisional
      cd00051
      Location:580635
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      pfam00648
      Location:46342
      Peptidase_C2; Calpain family cysteine protease
      pfam01067
      Location:356509
      Calpain_III; Calpain large subunit, domain III

    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.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      223541609..223665734 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001265.1XP_016856754.1  calpain-8 isoform X1

    2. XM_017001266.1XP_016856755.1  calpain-8 isoform X2

    3. XM_017001267.2XP_016856756.1  calpain-8 isoform X3

    4. XM_017001268.1XP_016856757.1  calpain-8 isoform X4

      UniProtKB/TrEMBL
      B1B154
      Related
      ENSP00000355838.2, ENST00000366873.6
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