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CD40LG Mediates B-cell proliferation in the absence of co- stimulus as well as IgE production in the presence of IL-4. Involved in immunoglobulin class switching. Defects in CD40LG are the cause of X-linked immunodeficiency with hyper-IgM type 1 (HIGM1); also known as X-linked hyper IgM syndrome (XHIM). HIGM1 is an immunoglobulin isotype switch defect characterized by elevated concentrations of serum IgM and decreased amounts of all other isotypes. Affected males present at an early age (usually within the first year of life) recurrent bacterial and opportunistic infections, including Pneumocystis carinii pneumonia and intractable diarrhea due to cryptosporidium infection. Despite substitution treatment with intravenous immunoglobulin, the overall prognosis is rather poor, with a death rate of about 10% before adolescence. Belongs to the tumor necrosis factor family. Note: This description may include information from UniProtKB.
Protein type: Cell adhesion; Membrane protein, integral
Chromosomal Location of Human Ortholog: Xq26.3
Cellular Component: cell surface; external side of plasma membrane; extracellular space; integral component of membrane; integral component of plasma membrane; intracellular; plasma membrane
Molecular Function: CD40 receptor binding; cytokine activity; protein binding; tumor necrosis factor receptor binding
Biological Process: activation of JNK activity; B cell differentiation; B cell proliferation; immunoglobulin secretion; inflammatory response; isotype switching; leukocyte adhesion; negative regulation of apoptosis; platelet activation; positive regulation of interleukin-10 production; positive regulation of interleukin-12 production; positive regulation of interleukin-4 production; positive regulation of NF-kappaB transcription factor activity; positive regulation of T cell proliferation; regulation of immune response; regulation of immunoglobulin secretion; T cell costimulation; tumor necrosis factor-mediated signaling pathway
Disease: Immunodeficiency With Hyper-igm, Type 1
Reference #:  P29965 (UniProtKB)
Alt. Names/Synonyms: CD154; CD40 antigen ligand; CD40 ligand; CD40 ligand, membrane form; CD40 ligand, soluble form; CD40-L; CD40L; CD40LG; gp39; hCD40L; HIGM1; IGM; IMD3; T-B cell-activating molecule; T-BAM; T-cell antigen Gp39; TNF-related activation protein; TNFSF5; TRAP; tumor necrosis factor (ligand) superfamily member 5; Tumor necrosis factor ligand superfamily member 5
Gene Symbols: CD40LG
Molecular weight: 29,274 Da
Basal Isoelectric point: 8.53  Predict pI for various phosphorylation states
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