Caspase recruitment domain-containing protein 14, also known as D-containing MAGUK protein 2 (Carma 2), is a

protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respon ...

in the CARD-CC protein family that in humans is encoded by the ''CARD14''

gene In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...

Function

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-CC protein family, which is defined by carrying a characteristic caspase-associated recruitment domain (

CARD Card or The Card may refer to: * Various types of plastic cards: **By type *** Magnetic stripe card ***Chip card ***Digital card **By function *** Payment card **** Credit card ****Debit card **** EC-card **** Identity card **** European Health Ins ...

) and a coiled-coil (CC) domain. This protein thus shares a similar domain structure with the

CARD10 Caspase recruitment domain-containing protein 10 is a protein in the CARD-CC protein family that in humans is encoded by the ''CARD10'' gene. Function The caspase recruitment domain (CARD) is a protein module that consists of 6 or 7 antipara ...

and CARD11 proteins. The CARD domains of both proteins have been shown to specifically interact with

BCL10 B-cell lymphoma/leukemia 10 is a protein that in humans is encoded by the ''BCL10'' gene. Like BCL2, BCL3, BCL5, BCL6, BCL7A, and BCL9, it has clinical significance in lymphoma. Function Bcl10 was identified by its translocation in a case of m ...

, a protein known to function as a positive regulator of cell apoptosis and

NF-κB Nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB) is a protein complex that controls transcription of DNA, cytokine production and cell survival. NF-κB is found in almost all animal cell types and is involved in cellular ...

activation. The homotypic interaction with BCL10 is believed to be prevented by the linker region of CARD14, when in an inactive state. CARD14 overexpression leads to an activation of the transcription factor

and phosphorylation of BCL10. CARD14 has been shown to form a CBM signalosome, similar to the signalling of CARD11, with

and

MALT1 Mucosa-associated lymphoid tissue lymphoma translocation protein 1 is a protein that in humans is encoded by the ''MALT1'' gene. It's the human paracaspase. Function Genetic ablation of the paracaspase gene in mice and biochemical studies hav ...

Link to Psoriasis

The CARD14 gene was recently identified as the first gene directly linked to the most common form of

Psoriasis Psoriasis is a long-lasting, noncontagious autoimmune disease characterized by raised areas of abnormal skin. These areas are red, pink, or purple, dry, itchy, and scaly. Psoriasis varies in severity from small, localized patches to complet ...

. It has been suggested that a mutation in the gene plus an environmental trigger were enough to elicit

plaque psoriasis Psoriasis is a long-lasting, noncontagious autoimmune disease characterized by raised areas of abnormal skin. These areas are red, pink, or purple, dry, itchy, and scaly. Psoriasis varies in severity from small, localized patches to complete b ...

. These rare, but highly penetrant, mutations were found to disrupt an auto-inhibited state of CARD14, which leads to the binding of BCL10 and the activation of NF-κB.

Function

Link to Psoriasis

References

External links

Further reading