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    CASP14 caspase 14 [ Homo sapiens (human) ]

    Gene ID: 23581, updated on 17-Jun-2024

    Summary

    Official Symbol
    CASP14provided by HGNC
    Official Full Name
    caspase 14provided by HGNC
    Primary source
    HGNC:HGNC:1502
    See related
    Ensembl:ENSG00000105141 MIM:605848; AllianceGenome:HGNC:1502
    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
    ARCI12; caspase-14
    Summary
    This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This caspase has been shown to be processed and activated by caspase 8 and caspase 10 in vitro, and by anti-Fas agonist antibody or TNF-related apoptosis inducing ligand in vivo. The expression and processing of this caspase may be involved in keratinocyte terminal differentiation, which is important for the formation of the skin barrier. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward skin (RPKM 223.1) See more
    Orthologs
    NEW
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    Genomic context

    See CASP14 in Genome Data Viewer
    Location:
    19p13.12
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (15049480..15058293)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (15174417..15183232)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (15160291..15169104)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 1 member 6 Neighboring gene Sharpr-MPRA regulatory region 13248 Neighboring gene tektin like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10264 Neighboring gene olfactory receptor family 1 subfamily I member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:15219898-15220448 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:15222723-15223250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:15223251-15223776 Neighboring gene synapse defective Rho GTPase homolog 1

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC119078, MGC119079

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cysteine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cornification TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in epidermis development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in keratinization TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of neuron apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    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 cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in keratin filament IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    caspase-14
    Names
    CASP-14
    apoptosis-related cysteine protease
    caspase 14, apoptosis-related cysteine peptidase
    caspase 14, apoptosis-related cysteine protease
    mini-ICE
    NP_036246.1
    XP_011526163.1
    XP_054176391.1

    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.

    mRNA and Protein(s)

    1. NM_012114.3NP_036246.1  caspase-14 precursor

      See identical proteins and their annotated locations for NP_036246.1

      Status: REVIEWED

      Source sequence(s)
      AC004699, AK313992, BM840054
      Consensus CDS
      CCDS12323.1
      UniProtKB/Swiss-Prot
      O95823, P31944, Q3SYC9
      UniProtKB/TrEMBL
      A9UFC0, B2CIS9
      Related
      ENSP00000393417.2, ENST00000427043.4
      Conserved Domains (1) summary
      cd00032
      Location:18242
      CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues; Cysteine-dependent aspartate-directed proteases that mediate programmed cell death (apoptosis). Caspases are synthesized as inactive zymogens and activated by proteolysis of the peptide ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      15049480..15058293
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527861.2XP_011526163.1  caspase-14 isoform X1

      See identical proteins and their annotated locations for XP_011526163.1

      Conserved Domains (1) summary
      cl00042
      Location:18181
      CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues; Cysteine-dependent aspartate-directed proteases that mediate programmed cell death (apoptosis). Caspases are synthesized as inactive zymogens and activated by proteolysis of the peptide ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      15174417..15183232
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320416.1XP_054176391.1  caspase-14 isoform X1