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FLASH GENE
Symbol CARD11 contributors: mct/npt/pgu - updated : 17-01-2015
HGNC name caspase recruitment domain family, member 11
HGNC id 16393
Corresponding disease
IMD11 immunodeficiency 11
PPBL persistent polyclonal B-cell lymphocytosis
Location 7p22.2      Physical location : 2.945.768 - 3.083.579
Synonym name
  • BCL10-interacting MAGUK protein 3
  • CARD-MAGUK protein 1
  • Carma 1
  • Synonym symbol(s) CARMA1, BIMP3, MGC133069, PPBL, BENTA, IMD11
    DNA
    TYPE functioning gene
    STRUCTURE 137.81 kb     25 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    PSMC2 7q22.1-q22.3 proteasome (prosome, macropain) 26S subunit, ATPase, 2 MGC12518 7q11.21 similar to ZINC FINGER PROTEIN 257 (BONE MARROW ZINC FINGER 4) (BMZF-4) PTPN12 7q11.23 protein tyrosine phosphatase, non-receptor type 12 PRES 7q22.1 prestin (motor protein) TTYH3 7p22 tweety homolog 3 (Drosophila) LOC392701 7 LOC392701 KIAA1950 7p22.3 KIAA1950 protein ZNF117 7q11.2 zinc finger protein 117 (HPF9) H-plk 7q11.21 Krueppel-related zinc finger protein LOC285919 7p22.3 hypothetical LOC285919 RELN 7q22 reelin GNA12 7p22-p21 guanine nucleotide binding protein (G protein) alpha 12 LOC392621 7 LOC392621 LOC392740 7 hypothetical gene supported by AF290475; BC037783 FLJ42526 7q21.11 FLJ42526 protein FLJ25037 7q11.21 hypothetical protein FLJ25037 C7orf35 7q21.11 chromosome 7 open reading frame 35 PHTF2 7q11.23-q21 putative homeodomain transcription factor 2 CARD11 7p22 caspase recruitment domain family, member 11 SDK1 7p22.3 sidekick homolog 1 (chicken) LOC392702 7 LOC392702
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    25 - 4372 132 1147 - 2008 18323416
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node   highly Homo sapiens
     thymus   highly Homo sapiens
     tonsils   highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymphocyte Homo sapiens
    Lymphoid/ImmuneT cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal CARD domain
  • a central coiled-coil domain
  • a C terminal tripartite domain comprised of a PDZ, a SH3 homology and a MAGUK domains
  • mono polymer oligo
    HOMOLOGY
    intraspecies homolog to CARD14
    Homologene
    FAMILY
  • MAGUK membrane associated guanylate kinase family
  • CARD family
  • CATEGORY adaptor , chaperone/stress , signaling
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    text
  • can be expressed in several compartments, including cytosol, and lipid raft and nonraft membrane fractions in unstimulated T cells
  • basic FUNCTION
  • critical lipid raft-associated regulator of TCR-induced NF-kappa B activation and CD28 costimulation-dependent JNK activation
  • involved in factor- specific activation of NF-kappaB by the TCR complex and establishing a role for a MAGUK family member in antigen receptor signaling
  • involved in both the innate and adaptive immune systems
  • playing a critical role in mediating activation of the NFkappaB transcription factor following antigen receptor stimulation of both B and T lymphocytes
  • is a key upstream signaling component responsible for the constitutive IkappaB kinase activity in activated B-cell-like DLBCL
  • playing a critical role for coupling the common elements of the NF-kappaB pathway to the T-cell receptor (TCR) and CD28
  • serves as a physiological substrate for MAP4K1 upon TCR stimulation
  • role in regulatory T Cell regulation involves both NF-KB activation and IL2 receptor signaling
  • TRAF2 and CARD11 serve as keystones for formation of the full TNFRSF4 signalosome and for allowing NFkB activation by TNFRSF4 in T cells
  • is an adapter that links the TCR to NFKB1 activity, cell survival, and proliferation
  • is an essential adaptor protein that links Ag receptors to NFKB1 activation
  • CARD11/BCL10/MALT1 (CBM) signalosome mediates antigen receptor-induced NFKB1 signaling to regulate multiple lymphocyte functions
  • CARD11, BCL10, and MALT1, that have complex 5'UTRs and encode proteins with short half-lives, are involved in BCR signaling
  • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • CARD11-BCL10-MALT1 (CBM) complex connects T-cell receptor (TCR) signalling to the canonical IkappaB kinase (IKK)/NF (nuclear factor)-kappaB pathway
  • TCR/CARD11/NFKB1 axis is an essential T-cell–intrinsic pathway for functional activity of the Th17 transcriptional machinery
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with BCL10 via its caspase-recruitment domain (CARD)
  • CARD11 and CARD10 physically associate with IKBKG /NFkappaB essential modulator (IkappaKgamma-NEMO) in lymphoid and non-lymphoid cells
  • physical and functional interaction between AKT1 and CARD11 and for Akt-dependent phosphorylation of BCL10
  • interaction partner of PPP2R1A (is associated with CARD11 in resting as well as activated T cells in the context of the active CBM complex))
  • PRKCQ and CARD11 form a signalosome with TNFRSF4 in the immune synapse and play a major role in promoting maximum and prolonged NFKB activity mediated by TNFRSF4
  • FYB regulating T cell receptor-mediated activation of integrins via association with the SKAP1 adapter and the NFKB1 pathway through interactions with both the CARD11 adapter and MAP3K7
  • CARD11 serves as a scaffold for BCL10, MALT1 and other effector proteins and regulates various signaling pathways related to the immune response
  • STUB1 is a CARD11 associated protein, and ubiquitination of CARD11 by STUB1 promotes TCR-induced NFKB1 signaling
  • interaction mode between CARD11 CARD and BCL10 CARD based on a structure-based modeling study
  • SMO activates trimeric G proteins and CARD11-associated signaling complex, leading to NFKB1 activation, contributing to the survival of DLBCL
  • PLEKHO1 interacts with CARD11 and has an inhibitory effect on PKCQ-CBM-NFKB1 signaling
  • is a novel target for AKT1 phosphorylation, suggesting that AKT1-mediated phosphorylation of CARD11 is an additional regulatory mechanism tuning the NFKB1 response downstream of antigen receptor and co-stimulatory signaling
  • AIP augments CARMA1-BCL10-MALT1 complex formation to facilitate NFKB1 signaling upon T cell activation
  • cell & other
    REGULATION
    inhibited by KIF13B, the kinesin-3 family member GAKIN that is a CARD11 inhibitor
    Other regulated by MAP4K1(MAP4K1-mediated phosphorylation of CARD11 as an additional regulatory mechanism tuning the NF-KB response upon TCR stimulation
    ASSOCIATED DISORDERS
    corresponding disease(s) PPBL , IMD11
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral somatic mutation      
    in diffuse large B cell lymphoma, that enhance activity and that are mostly found in the coiled-coil domain
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS