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    CAPN5 calpain 5 [ Homo sapiens (human) ]

    Gene ID: 726, updated on 3-Dec-2024

    Summary

    Official Symbol
    CAPN5provided by HGNC
    Official Full Name
    calpain 5provided by HGNC
    Primary source
    HGNC:HGNC:1482
    See related
    Ensembl:ENSG00000149260 MIM:602537; AllianceGenome:HGNC:1482
    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
    VRNI; ADNIV; HTRA3; nCL-3
    Summary
    Calpains are calcium-dependent cysteine proteases involved in signal transduction in a variety of cellular processes. A functional calpain protein consists of an invariant small subunit and 1 of a family of large subunits. CAPN5 is one of the large subunits. Unlike some of the calpains, CAPN5 and CAPN6 lack a calmodulin-like domain IV. Because of the significant similarity to Caenorhabditis elegans sex determination gene tra-3, CAPN5 is also called as HTRA3. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in colon (RPKM 33.5), duodenum (RPKM 28.3) and 19 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See CAPN5 in Genome Data Viewer
    Location:
    11q13.5
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (77066971..77126155)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (76997312..77056732)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (76778018..76837201)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369399 Neighboring gene uncharacterized LOC105369400 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:76777177-76777677 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:76797624-76798572 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:76824170-76824764 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:76824765-76825360 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:76825361-76825954 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:76837978-76838700 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:76838701-76839424 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:76840147-76840870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:76842316-76843037 Neighboring gene olfactory marker protein Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:76851056-76851622 Neighboring gene myosin VIIA Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:76893658-76894158 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:76902287-76902788 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:76902789-76903288 Neighboring gene glycerophosphodiester phosphodiesterase domain containing 4

    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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Proliferative vitreoretinopathy
    MedGen: C0242852 OMIM: 193235 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
    EBI GWAS Catalog
    Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ46245

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium-dependent cysteine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in focal adhesion HDA PubMed 
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    calpain-5
    Names
    calpain htra-3
    new calpain 3
    testis tissue sperm-binding protein Li 91mP

    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_033002.2 RefSeqGene

      Range
      5002..64186
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001425321.1NP_001412250.1  calpain-5 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AP000752
      UniProtKB/TrEMBL
      E7EV01, Q59GM2
      Related
      ENSP00000409996.2, ENST00000456580.6
    2. NM_001425322.1NP_001412251.1  calpain-5 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AP000752
      UniProtKB/Swiss-Prot
      O00263, O15484
      UniProtKB/TrEMBL
      A0A140VKH4, Q59GM2
      Related
      ENSP00000432332.1, ENST00000529629.5
    3. NM_001425323.1NP_001412252.1  calpain-5 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AP000752
      UniProtKB/TrEMBL
      Q59GM2
      Related
      ENSP00000496931.1, ENST00000648752.1
    4. NM_004055.5NP_004046.2  calpain-5 isoform 1

      See identical proteins and their annotated locations for NP_004046.2

      Status: REVIEWED

      Source sequence(s)
      AP000752, BC018123
      Consensus CDS
      CCDS8248.1
      UniProtKB/Swiss-Prot
      O00263, O15484
      UniProtKB/TrEMBL
      A0A140VKH4, Q59GM2
      Related
      ENSP00000498132.1, ENST00000648180.1
      Conserved Domains (3) summary
      cd04046
      Location:515638
      C2_Calpain; C2 domain present in Calpain proteins
      cd00214
      Location:352498
      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:27341
      Peptidase_C2; Calpain family cysteine protease

    RNA

    1. NR_189161.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AP000752

    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
      77066971..77126155
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545225.1XP_011543527.1  calpain-5 isoform X1

      See identical proteins and their annotated locations for XP_011543527.1

      UniProtKB/TrEMBL
      Q6ZRM8
      Conserved Domains (3) summary
      smart00230
      Location:53391
      CysPc; Calpain-like thiol protease family
      cd04046
      Location:555678
      C2_Calpain; C2 domain present in Calpain proteins
      pfam01067
      Location:394533
      Calpain_III; Calpain large subunit, domain III
    2. XM_017018223.3XP_016873712.3  calpain-5 isoform X2

      UniProtKB/TrEMBL
      Q59GM2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      76997312..77056732
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369805.1XP_054225780.1  calpain-5 isoform X1

      UniProtKB/TrEMBL
      Q6ZRM8
    2. XM_054369806.1XP_054225781.1  calpain-5 isoform X2

      UniProtKB/TrEMBL
      Q59GM2