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    CARD16 caspase recruitment domain family member 16 [ Homo sapiens (human) ]

    Gene ID: 114769, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CARD16provided by HGNC
    Official Full Name
    caspase recruitment domain family member 16provided by HGNC
    Primary source
    HGNC:HGNC:33701
    See related
    Ensembl:ENSG00000204397 MIM:615680; AllianceGenome:HGNC:33701
    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
    COP; COP1; PSEUDO-ICE; LLID-114769
    Summary
    Enables several functions, including CARD domain binding activity; cysteine-type endopeptidase inhibitor activity; and enzyme binding activity. Involved in several processes, including negative regulation of cysteine-type endopeptidase activity; regulation of gene expression; and regulation of signal transduction. Part of protease inhibitor complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in spleen (RPKM 14.0), appendix (RPKM 12.0) and 23 other tissues See more
    Orthologs
    all
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    Genomic context

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    See CARD16 in Genome Data Viewer
    Location:
    11q22.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (105041563..105045335, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (105045653..105049425, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (104912290..104916062, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 11455 Neighboring gene caspase 5 Neighboring gene uncharacterized LOC124902742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5460 Neighboring gene caspase 1 Neighboring gene uncharacterized LOC107984381 Neighboring gene caspase 1 pseudogene 2 Neighboring gene caspase recruitment domain family member 17, pseudogene Neighboring gene caspase 1 pseudogene 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Dysregulation of receptor interacting protein-2 and caspase recruitment domain only protein mediates aberrant caspase-1 activation in Huntington's disease. Wang X, et al. J Neurosci, 2005 Dec 14. PMID 16354923, Free PMC Article
    2. Altered expression of genes involved in inflammation and apoptosis in frontal cortex in major depression. Shelton RC, et al. Mol Psychiatry, 2011 Jul. PMID 20479761, Free PMC Article
    3. IL-1beta mediates MMP secretion and IL-1beta neosynthesis via upregulation of p22(phox) and NOX4 activity in human articular chondrocytes. Rousset F, et al. Osteoarthritis Cartilage, 2015 Nov. PMID 26521743
    4. Cop, a caspase recruitment domain-containing protein and inhibitor of caspase-1 activation processing. Lee SH, et al. J Biol Chem, 2001 Sep 14. PMID 11432859
    5. Regulation of IL-1beta generation by Pseudo-ICE and ICEBERG, two dominant negative caspase recruitment domain proteins. Druilhe A, et al. Cell Death Differ, 2001 Jun. PMID 11536016

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Expression of NOX4/p22(phox) as well as ROS production is enhanced by IL-1beta. On the other hand, the use of NOX4 inhibitors decreased IL-1beta-induced collagenase synthesis by chondrocytes.
      Title: IL-1beta mediates MMP secretion and IL-1beta neosynthesis via upregulation of p22(phox) and NOX4 activity in human articular chondrocytes.
    2. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    4. Cop inhibition of cell death, at least to a certain extent, results from its interference with the activation of caspase-1 and caspase-4.
      Title: Protective role of Cop in Rip2/caspase-1/caspase-4-mediated HeLa cell death.
    5. Caspase-1-mediated cell death is regulated, at least in part, by the balance of Rip2 and Cop; alterations of this balance may contribute to aberrant caspase-1-mediated pathogenesis in Huntington's disease.
      Title: Dysregulation of receptor interacting protein-2 and caspase recruitment domain only protein mediates aberrant caspase-1 activation in Huntington's disease.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of caspase recruitment domain family, member 16 (CARD16; COP1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables CARD domain binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables caspase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables cysteine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cysteine-type endopeptidase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to lipopolysaccharide IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in inhibition of cysteine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of cysteine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of interleukin-1 beta production IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of lipopolysaccharide-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of tumor necrosis factor-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of NF-kappaB transcription factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of canonical NF-kappaB signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of protease inhibitor complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    caspase recruitment domain-containing protein 16
    Names
    CARD only domain-containing protein 1
    CARD only protein
    CARD-only protein 1
    caspase recruitment domain-only protein 1
    caspase-1 dominant-negative inhibitor pseudo-ICE
    caspase-1 inhibitor COP
    pseudo interleukin-1 beta converting enzyme
    pseudo interleukin-1beta converting enzyme
    pseudo-IL1B-converting enzyme

    NCBI Reference Sequences (RefSeq)

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    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_001394580.1 → NP_001381509.1  caspase recruitment domain-containing protein 16 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AP001153
      Conserved Domains (1) summary
      cd08325
      Location:1 → 71
      CARD_CASP1-like; Caspase activation and recruitment domain found in Caspase-1 and related proteins

    2. NM_052889.4 → NP_443121.1  caspase recruitment domain-containing protein 16 isoform 2

      See identical proteins and their annotated locations for NP_443121.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) encodes the longer isoform (2).
      Source sequence(s)
      AP001153
      Consensus CDS
      CCDS41705.1
      UniProtKB/TrEMBL
      Q5FBZ0
      Related
      ENSP00000509408.1, ENST00000673097.2
      Conserved Domains (1) summary
      cd08325
      Location:5 → 87
      CARD_CASP1-like; Caspase activation and recruitment domain found in Caspase-1 and related proteins

    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
      105041563..105045335 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      105045653..105049425 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_024408.1: Suppressed sequence

      Description
      NG_024408.1: This RefSeq was permanently suppressed because it is now thought that this gene does encode a protein.

    2. NM_001017534.2: Suppressed sequence

      Description
      NM_001017534.2: This RefSeq was removed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5EG05.1 GenPept UniProtKB/Swiss-Prot:Q5EG05

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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