InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CARD11

Summary

InnateDB Protein

IDBP-236412.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CARD11

Protein Name

caspase recruitment domain family, member 11

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000380150

InnateDB Gene

IDBG-7145 (CARD11)

Protein Structure

UniProt Annotation

Function

Involved in the costimulatory signal essential for T- cell receptor (TCR)-mediated T-cell activation. Its binding to DPP4 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner. Activates NF-kappa-B via BCL10 and IKK. Stimulates the phosphorylation of BCL10.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:17287217}. Membrane raft {ECO:0000269PubMed:17287217}. Note=Colocalized with DPP4 in membrane rafts.

Disease Associations

Persistent polyclonal B-cell lymphocytosis (PPBL) [MIM:606445]: An autosomal dominant condition characterized by onset in infancy of splenomegaly and polyclonal expansion of B cells, resulting in peripheral lymphocytosis. Affected individuals also show mild immune dysfunction, including some defective antibody responses and T-cell anergy. There may be a predisposition to the development of B-cell malignancy. {ECO:0000269PubMed:23129749}. Note=The disease is caused by mutations affecting the gene represented in this entry.Immunodeficiency 11 (IMD11) [MIM:615206]: An autosomal recessive primary immunodeficiency characterized by normal numbers of T and B-lymphocytes, but defective intracellular signaling. There is a block in B-cell differentiation with increased numbers of transitional B-cells and hypogammaglobulinemia, as well as decreased numbers of regulatory T-cells and defects in T-cell function. {ECO:0000269PubMed:23374270}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Detected in adult peripheral blood leukocytes, thymus, spleen and liver. Also found in promyelocytic leukemia HL- 60 cells, chronic myelogenous leukemia K-562 cells, Burkitt's lymphoma Raji cells and colorectal adenocarcinoma SW480 cells. Not detected in HeLaS3, MOLT-4, A-549 and G431 cells. {ECO:0000269PubMed:11278692}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 42 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.

Experimentally validated
Total	42 [view]
Protein-Protein	41 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	8 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004385	guanylate kinase activity
GO:0005515	protein binding
GO:0050700	CARD domain binding

Biological Process

GO:0001819	positive regulation of cytokine production
GO:0007165	signal transduction
GO:0030890	positive regulation of B cell proliferation
GO:0031295	T cell costimulation
GO:0038095	Fc-epsilon receptor signaling pathway
GO:0042102	positive regulation of T cell proliferation
GO:0042981	regulation of apoptotic process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0045061	thymic T cell selection
GO:0045086	positive regulation of interleukin-2 biosynthetic process
GO:0045087	innate immune response
GO:0045577	regulation of B cell differentiation
GO:0045580	regulation of T cell differentiation
GO:0046939	nucleotide phosphorylation
GO:0050776	regulation of immune response
GO:0050852	T cell receptor signaling pathway
GO:0050870	positive regulation of T cell activation
GO:0051092	positive regulation of NF-kappaB transcription factor activity

Cellular Component

GO:0001772	immunological synapse
GO:0005622	intracellular
GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0005886	plasma membrane
GO:0042101	T cell receptor complex
GO:0045121	membrane raft