CARD9
Encyclopedia
Caspase recruitment domain-containing protein 9 is an adaptor protein that in humans is encoded by the CARD9 gene
.
). CARD is a protein interaction domain known to participate in activation or suppression of CARD containing members of the caspase
family, and thus plays an important regulatory role in cell apoptosis
. This protein was identified by its selective association with the CARD domain of BCL10
, a positive regulator of apoptosis and NF-κB activation, and is thought to function as a molecular scaffold for the assembly of a BCL10 signaling complex that activates NF-κB. Several alternatively spliced transcript variants have been observed, but their full-length nature is not clearly defined.
Importantly, it was reported that an autosomal recessive form of susceptibility to chronic mucocutaneous candidiasis
is associated with homozygous mutations in CARD9.
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Function
CARD9 is a member of the CARD protein family, which is defined by the presence of a characteristic caspase-associated recruitment domain (CARDCARD domain
Caspase recruitment domains, or Caspase activation and recruitment domains , are interaction motifs found in a wide array of proteins, typically those involved in processes relating to inflammation and apoptosis. These domains mediate the formation of larger protein complexes via direct...
). CARD is a protein interaction domain known to participate in activation or suppression of CARD containing members of the caspase
Caspase
Caspases, or cysteine-aspartic proteases or cysteine-dependent aspartate-directed proteases are a family of cysteine proteases that play essential roles in apoptosis , necrosis, and inflammation....
family, and thus plays an important regulatory role in cell apoptosis
Apoptosis
Apoptosis is the process of programmed cell death that may occur in multicellular organisms. Biochemical events lead to characteristic cell changes and death. These changes include blebbing, cell shrinkage, nuclear fragmentation, chromatin condensation, and chromosomal DNA fragmentation...
. This protein was identified by its selective association with the CARD domain of BCL10
BCL10
B-cell lymphoma/leukemia 10 is a protein that in humans is encoded by the BCL10 gene.-Interactions:BCL10 has been shown to interact with CARD10, CARD11, MALT1, TRAF2, IKBKG and CARD9.-Further reading:...
, a positive regulator of apoptosis and NF-κB activation, and is thought to function as a molecular scaffold for the assembly of a BCL10 signaling complex that activates NF-κB. Several alternatively spliced transcript variants have been observed, but their full-length nature is not clearly defined.
Clinical significance
It recently became clear that Card9 plays important roles as part of the innate immune response for the defense against pathogens such as yeasts. Card9 mediates signals from so called pattern recognition receptors to downstream signalling pathways such as NF-κB and by this activates pro-inflammatory cytokines and subsequently an appropriate innate and adaptive immune response for the efficient clearance of the infection.Importantly, it was reported that an autosomal recessive form of susceptibility to chronic mucocutaneous candidiasis
Candidiasis
Thrush redirects here. For the hoof infection see Thrush .Candidiasis or thrush is a fungal infection of any of the Candida species , of which Candida albicans is the most common...
is associated with homozygous mutations in CARD9.