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    CARD11 caspase recruitment domain family member 11 [ Homo sapiens (human) ]

    Gene ID: 84433, updated on 3-Jun-2018
    Official Symbol
    CARD11provided by HGNC
    Official Full Name
    caspase recruitment domain family member 11provided by HGNC
    Primary source
    HGNC:HGNC:16393
    See related
    Ensembl:ENSG00000198286 MIM:607210; Vega:OTTHUMG00000023023
    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
    PPBL; BENTA; BIMP3; IMD11; CARMA1; IMD11A
    Summary
    The protein encoded by this gene belongs to the membrane-associated guanylate kinase (MAGUK) family, a class of proteins that functions as molecular scaffolds for the assembly of multiprotein complexes at specialized regions of the plasma membrane. This protein is also a member of the CARD protein family, which is defined by carrying a characteristic caspase-associated recruitment domain (CARD). This protein has a domain structure similar to that of CARD14 protein. The CARD domains of both proteins have been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. When expressed in cells, this protein activated NF-kappaB and induced the phosphorylation of BCL10. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in lymph node (RPKM 19.0), spleen (RPKM 15.1) and 10 other tissues See more
    Orthologs
    See CARD11 in Genome Data Viewer
    Location:
    7p22.2
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (2906075..3043945, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (2945709..3083579, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene archaelysin family metallopeptidase 1 Neighboring gene G protein subunit alpha 12 Neighboring gene prefoldin subunit 4 pseudogene Neighboring gene uncharacterized LOC101927256 Neighboring gene uncharacterized LOC107986761 Neighboring gene RNA, 7SK small nuclear pseudogene 130 Neighboring gene uncharacterized LOC105375130 Neighboring gene uncharacterized LOC100129603

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    B-cell expansion with NFKB and T-cell anergy
    MedGen: CN231446 OMIM: 616452 GeneReviews: Not available
    Compare labs
    Immunodeficiency 11
    MedGen: C3554686 OMIM: 615206 GeneReviews: Not available
    Compare labs
    IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS
    MedGen: CN417134 OMIM: 617638 GeneReviews: Not available
    not available
    Persistent polyclonal B-cell lymphocytosis
    MedGen: C1847973 OMIM: 606445 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.
    NHGRI GWA Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    NHGRI GWA Catalog
    White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder.
    NHGRI GWA Catalog
    • Activation of NF-kappaB in B cells, organism-specific biosystem (from REACTOME)
      Activation of NF-kappaB in B cells, organism-specific biosystemDAG and calcium activate protein kinase C beta (PKC-beta, Kochs et al. 1991) which phosphorylates CARMA1 and other proteins (Sommer et al. 2005). Phosphorylated CARMA1 recruits BCL10 and MALT1 to for...
    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • B Cell Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
      B Cell Receptor Signaling Pathway, organism-specific biosystemThe functional B-cell receptor is a multi-protein complex consisting of an antigen binding subunit and a signaling subunit. The antigen binding subunit is the membrane bound immunoglobulin and the si...
    • B cell receptor signaling pathway, organism-specific biosystem (from KEGG)
      B cell receptor signaling pathway, organism-specific biosystemB cells are an important component of adaptive immunity. They produce and secrete millions of different antibody molecules, each of which recognizes a different (foreign) antigen. The B cell receptor...
    • B cell receptor signaling pathway, conserved biosystem (from KEGG)
      B cell receptor signaling pathway, conserved biosystemB cells are an important component of adaptive immunity. They produce and secrete millions of different antibody molecules, each of which recognizes a different (foreign) antigen. The B cell receptor...
    • BCR signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      BCR signaling pathway, organism-specific biosystem
      BCR signaling pathway
    • C-type lectin receptors (CLRs), organism-specific biosystem (from REACTOME)
      C-type lectin receptors (CLRs), organism-specific biosystemPathogen recognition is central to the induction of T cell differentiation. Groups of pathogens share similar structures known as pathogen-associated molecular patterns (PAMPs), which are recognised ...
    • CLEC7A (Dectin-1) signaling, organism-specific biosystem (from REACTOME)
      CLEC7A (Dectin-1) signaling, organism-specific biosystemCLEC7A (also known as Dectin-1) is a pattern-recognition receptor (PRR) expressed by myeloid cells (macrophages, dendritic cells and neutrophils) that detects pathogens by binding to beta-1,3-glucans...
    • Downstream TCR signaling, organism-specific biosystem (from REACTOME)
      Downstream TCR signaling, organism-specific biosystemChanges in gene expression are required for the T cell to gain full proliferative competence and to produce effector cytokines. Three transcription factors in particular have been found to play a key...
    • Downstream signaling events of B Cell Receptor (BCR), organism-specific biosystem (from REACTOME)
      Downstream signaling events of B Cell Receptor (BCR), organism-specific biosystemSecond messengers (calcium, diacylglycerol, inositol 1,4,5-trisphosphate, and phosphatidyinositol 3,4,5-trisphosphate) trigger signaling pathways: NF-kappaB is activated via protein kinase C beta, RA...
    • FCERI mediated NF-kB activation, organism-specific biosystem (from REACTOME)
      FCERI mediated NF-kB activation, organism-specific biosystemThe increase in intracellular Ca+2 in conjunction with DAG also activates PKC and RasGRP, which inturn contributes to cytokine production by mast cells (Kambayashi et al. 2007). Activation of the FCE...
    • Fc epsilon receptor (FCERI) signaling, organism-specific biosystem (from REACTOME)
      Fc epsilon receptor (FCERI) signaling, organism-specific biosystemMast cells (MC) are distributed in tissues throughout the human body and have long been recognized as key cells of type I hypersensitivity reactions. They also play important roles in inflammatory an...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • NF-kappa B signaling pathway, organism-specific biosystem (from KEGG)
      NF-kappa B signaling pathway, organism-specific biosystemNuclear factor-kappa B (NF-kappa B) is the generic name of a family of transcription factors that function as dimers and regulate genes involved in immunity, inflammation and cell survival. There are...
    • NF-kappa B signaling pathway, conserved biosystem (from KEGG)
      NF-kappa B signaling pathway, conserved biosystemNuclear factor-kappa B (NF-kappa B) is the generic name of a family of transcription factors that function as dimers and regulate genes involved in immunity, inflammation and cell survival. There are...
    • Signaling by the B Cell Receptor (BCR), organism-specific biosystem (from REACTOME)
      Signaling by the B Cell Receptor (BCR), organism-specific biosystemMature B cells express IgM and IgD immunoglobulins which are complexed at the plasma membrane with Ig-alpha (CD79A, MB-1) and Ig-beta (CD79B, B29) to form the B cell receptor (BCR) (Fu et al. 1974, F...
    • T cell receptor signaling pathway, organism-specific biosystem (from KEGG)
      T cell receptor signaling pathway, organism-specific biosystemActivation of T lymphocytes is a key event for an efficient response of the immune system. It requires the involvement of the T-cell receptor (TCR) as well as costimulatory molecules such as CD28. En...
    • T cell receptor signaling pathway, conserved biosystem (from KEGG)
      T cell receptor signaling pathway, conserved biosystemActivation of T lymphocytes is a key event for an efficient response of the immune system. It requires the involvement of the T-cell receptor (TCR) as well as costimulatory molecules such as CD28. En...
    • T-Cell antigen Receptor (TCR) Signaling Pathway, organism-specific biosystem (from WikiPathways)
      T-Cell antigen Receptor (TCR) Signaling Pathway, organism-specific biosystemThe T-cell antigen receptor (TCR) complex is composed of a ligand-binding subunit, the ? and ? chains, and a signaling subunit, namely the CD3?, ? and ? chains and the TCR? chain. This complex partic...
    • T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection, organism-specific biosystem (from WikiPathways)
      T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection, organism-specific biosystemThis pathway is based on Figure 4 of "A Model of an Integrated Immune System Pathway in Homo sapiens and Its Interaction with Superantigen Producing Expression Regulatory Pathway in Staphylococcus au...
    • TCR signaling, organism-specific biosystem (from REACTOME)
      TCR signaling, organism-specific biosystemThe TCR is a multisubunit complex that consists of clonotypic alpha/beta chains noncovalently associated with the invariant CD3 delta/epsilon/gamma and TCR zeta chains. T cell activation by antigen p...
    • TCR signaling in naive CD4+ T cells, organism-specific biosystem (from Pathway Interaction Database)
      TCR signaling in naive CD4+ T cells, organism-specific biosystem
      TCR signaling in naive CD4+ T cells
    • TCR signaling in naive CD8+ T cells, organism-specific biosystem (from Pathway Interaction Database)
      TCR signaling in naive CD8+ T cells, organism-specific biosystem
      TCR signaling in naive CD8+ T cells
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC133069

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    CARD domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    guanylate kinase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    B cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    B cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    Fc-epsilon receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    GDP metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    GMP metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    I-kappaB kinase/NF-kappaB signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    T cell costimulation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    T cell receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    TORC1 signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    homeostasis of number of cells IEA
    Inferred from Electronic Annotation
    more info
     
    immunoglobulin production IEA
    Inferred from Electronic Annotation
    more info
     
    interleukin-2 secretion IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of B cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of I-kappaB kinase/NF-kappaB signaling IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of NF-kappaB transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of T cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cytokine production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of interleukin-2 biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of B cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of T cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    stimulatory C-type lectin receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    thymic T cell selection IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    CBM complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with T cell receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome HDA PubMed 
    immunological synapse IEA
    Inferred from Electronic Annotation
    more info
     
    membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    caspase recruitment domain-containing protein 11
    Names
    CARD-containing MAGUK protein 1
    bcl10-interacting maguk protein 3
    carma 1

    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_027759.1 RefSeqGene

      Range
      4931..142801
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001324281.1NP_001311210.1  caspase recruitment domain-containing protein 11

      Status: REVIEWED

      Description
      Transcript Variant: Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC004906, AC092689, CR975176, HY086990
      Consensus CDS
      CCDS5336.2
      UniProtKB/Swiss-Prot
      Q9BXL7
      UniProtKB/TrEMBL
      A0A024R854, Q8TES3
      Conserved Domains (7) summary
      cd00992
      Location:680752
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd08808
      Location:22107
      CARD_CARD11_CARMA1; Caspase activation and recruitment domain of CARD11-like proteins
      cd16269
      Location:387398
      GBP_C; coiled coil [structural motif]
      cl12013
      Location:173257
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
      cl17036
      Location:777839
      SH3; Src Homology 3 domain superfamily
      cl17190
      Location:10091143
      NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
      cl20817
      Location:252418
      GBP_C; Guanylate-binding protein, C-terminal domain
    2. NM_032415.5NP_115791.3  caspase recruitment domain-containing protein 11

      See identical proteins and their annotated locations for NP_115791.3

      Status: REVIEWED

      Description
      Transcript Variant: Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AA594170, AK074049, HY086990
      Consensus CDS
      CCDS5336.2
      UniProtKB/Swiss-Prot
      Q9BXL7
      UniProtKB/TrEMBL
      A0A024R854, Q8TES3
      Related
      ENSP00000380150.4, OTTHUMP00000024641, ENST00000396946.8, OTTHUMT00000059344
      Conserved Domains (7) summary
      cd00992
      Location:680752
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd08808
      Location:22107
      CARD_CARD11_CARMA1; Caspase activation and recruitment domain of CARD11-like proteins
      cd16269
      Location:387398
      GBP_C; coiled coil [structural motif]
      cl12013
      Location:173257
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
      cl17036
      Location:777839
      SH3; Src Homology 3 domain superfamily
      cl17190
      Location:10091143
      NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
      cl20817
      Location:252418
      GBP_C; Guanylate-binding protein, C-terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

      Range
      2906075..3043945 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515587.2XP_011513889.1  caspase recruitment domain-containing protein 11 isoform X2

      See identical proteins and their annotated locations for XP_011513889.1

      Conserved Domains (7) summary
      cd00992
      Location:679751
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd08808
      Location:22107
      CARD_CARD11_CARMA1; Caspase activation and recruitment domain of CARD11-like proteins
      cd16269
      Location:387398
      GBP_C; coiled coil [structural motif]
      cl12013
      Location:173257
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
      cl17036
      Location:776838
      SH3; Src Homology 3 domain superfamily
      cl17190
      Location:10081142
      NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
      cl20817
      Location:252418
      GBP_C; Guanylate-binding protein, C-terminal domain
    2. XM_011515586.2XP_011513888.1  caspase recruitment domain-containing protein 11 isoform X1

      See identical proteins and their annotated locations for XP_011513888.1

      UniProtKB/Swiss-Prot
      Q9BXL7
      UniProtKB/TrEMBL
      A0A024R854, Q8TES3
      Conserved Domains (7) summary
      cd00992
      Location:680752
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd08808
      Location:22107
      CARD_CARD11_CARMA1; Caspase activation and recruitment domain of CARD11-like proteins
      cd16269
      Location:387398
      GBP_C; coiled coil [structural motif]
      cl12013
      Location:173257
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
      cl17036
      Location:777839
      SH3; Src Homology 3 domain superfamily
      cl17190
      Location:10091143
      NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
      cl20817
      Location:252418
      GBP_C; Guanylate-binding protein, C-terminal domain

    RNA

    1. XR_001744885.1 RNA Sequence

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