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

Gene ID: 84433, updated on 15-May-2016
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 HPRD:06234; 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
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]
Orthologs
Location:
7p22
Exon count:
26
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 LOC105375129 Neighboring gene uncharacterized LOC105375130 Neighboring gene uncharacterized LOC100129603

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
CARD11 immunodeficiency
MedGen: C3554686 OMIM: 615206 GeneReviews: Not available
Compare labs
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 B cell receptor includes membrane ?? heavy chain molecules bound to a light chain and an Ig alpha (CD79A)/Ig beta (CD79B) heterodimer. Activation of the B cell receptor involves phosphorylation o...
  • 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...
  • TCR Signaling Pathway, organism-specific biosystem (from WikiPathways)
    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...
  • 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
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
 
T cell costimulation IDA
Inferred from Direct Assay
more info
PubMed 
T cell receptor signaling pathway TAS
Traceable Author Statement
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
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 IDA
Inferred from Direct Assay
more info
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
caspase recruitment domain family, member 11

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
  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, OTTHUMP00000024641, ENST00000396946, OTTHUMT00000059344
    Conserved Domains (5) 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
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011515587.1XP_011513889.1  

    See identical proteins and their annotated locations for XP_011513889.1

    Conserved Domains (5) 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
    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 ...
  2. XM_011515585.1XP_011513887.1  

    UniProtKB/Swiss-Prot
    Q9BXL7
    UniProtKB/TrEMBL
    A0A024R854, Q8TES3
    Conserved Domains (5) 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
    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 ...
  3. XM_011515586.1XP_011513888.1  

    See identical proteins and their annotated locations for XP_011513888.1

    UniProtKB/Swiss-Prot
    Q9BXL7
    UniProtKB/TrEMBL
    A0A024R854, Q8TES3
    Conserved Domains (5) 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
    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 ...

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 Alternate CHM1_1.1

    Range
    2945368..3083787 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)