CD40LG
entrez
959
canonical
uniprot
P29965
canonical
ensembl
ENSG00000102245
resolver
ensp
ENSP00000359663
resolver
enst
ENST00000370629
resolver
genesymbol
CD40LG
resolver
genesymbol_syn
CD40L
resolver
genesymbol_syn
TNFSF5
resolver
genesymbol_syn
TRAP
resolver
hgnc
HGNC:11935
resolver
uniprot_entry
CD40L_HUMAN
resolver
amino_acid_sequence
MIETYNQTSPRSAATGLPISMKIFMYLLTVFLITQMIGSALFAVYLHRRLDKIEDERNLHEDFVFMKTIQRCNTGERSLSLLNCEEIKSQFEGFVKDIMLNKEETKKENSFEMQKGDQNPQIAAHVISEASSKTTSVLQWAEKGYYTMSNNLVTLENGKQLTVKRQGLYYIYAQVTFCSNREASSQAPFIASLCLKSPGRFERILLRAANTHSSAKPCGQQSIHLGGVFELQPGASVFVNVTDPSQVSHGTGFTSFGLLKL
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230]: 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. {ECO:0000269|PubMed:26545377, ECO:0000269|PubMed:31331973, ECO:0000269|PubMed:7532185, ECO:0000269|PubMed:7678782, ECO:0000269|PubMed:7679206, ECO:0000269|PubMed:7679801, ECO:0000269|PubMed:7717401, ECO:0000269|PubMed:8094231, ECO:0000269|PubMed:8550833, ECO:0000269|PubMed:8889581, ECO:0000269|PubMed:9150729, ECO:0000269|PubMed:9746782}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Cytokine that acts as a ligand to CD40/TNFRSF5 (PubMed:1280226, PubMed:31331973). Costimulates T-cell proliferation and cytokine production (PubMed:8617933). Its cross-linking on T-cells generates a costimulatory signal which enhances the production of IL4 and IL10 in conjunction with the TCR/CD3 ligation and CD28 costimulation (PubMed:8617933). Induces the activation of NF-kappa-B (PubMed:15067037, PubMed:31331973). Induces the activation of kinases MAPK8 and PAK2 in T-cells (PubMed:15067037). Induces tyrosine phosphorylation of isoform 3 of CD28 (PubMed:15067037). Mediates B-cell proliferation in the absence of co-stimulus as well as IgE production in the presence of IL4 (By similarity). Involved in immunoglobulin class switching (By similarity). {ECO:0000250|UniProtKB:P27548, ECO:0000269|PubMed:1280226, ECO:0000269|PubMed:15067037, ECO:0000269|PubMed:31331973, ECO:0000269|PubMed:8617933}.; FUNCTION: [CD40 ligand, soluble form]: Acts as a ligand for integrins, specifically ITGA5:ITGB1 and ITGAV:ITGB3; both integrins and the CD40 receptor are required for activation of CD40-CD40LG signaling, which have cell-type dependent effects, such as B-cell activation, NF-kappa-B signaling and anti-apoptotic signaling. {ECO:0000269|PubMed:31331973}.
uniprot
proteins
mass_dalton
29274
uniprot
proteins
mutagenesis
MUTAGEN 170; /note="Y->E: Decreases ITGA5:ITGB1 binding, B-cell activation, activation of NF-kappa-B signaling, and anti-apoptotic signaling; in soluble form. Slightly decreases CD40 binding; in soluble form."; /evidence="ECO:0000269|PubMed:31331973"; MUTAGEN 224; /note="H->E: Decreases ITGA5:ITGB1 binding, B-cell activation, activation of NF-kappa-B signaling, and anti-apoptotic signaling; when associated with E-226 in soluble form. No effect on CD40 binding; when associated with E-226 in soluble form."; /evidence="ECO:0000269|PubMed:31331973"; MUTAGEN 226; /note="G->E: Decreases ITGA5:ITGB1 binding, B-cell activation, activation of NF-kappa-B signaling, and anti-apoptotic signaling; when associated with E-224 in soluble form. No effect on CD40 binding; when associated with E-224 in soluble form."; /evidence="ECO:0000269|PubMed:31331973"; MUTAGEN 252; /note="G->E: Decreases ITGA5:ITGB1 binding, B-cell activation, activation of NF-kappa-B signaling, and anti-apoptotic signaling; in soluble form. No effect on CD40 binding; in soluble form."; /evidence="ECO:0000269|PubMed:31331973
uniprot
proteins
post_translational_modification
PTM: The soluble form derives from the membrane form by proteolytic processing. {ECO:0000269|PubMed:8626375}.; PTM: N-linked glycan is a mixture of high mannose and complex type. Glycan structure does not influence binding affinity to CD40. {ECO:0000269|PubMed:11676606}.; PTM: Not O-glycosylated.
uniprot
proteins
protein_family
Tumor necrosis factor family
uniprot
proteins
pubmed
11676606
uniprot
proteins
pubmed
1280226
uniprot
proteins
pubmed
1281209
uniprot
proteins
pubmed
1385114
uniprot
proteins
pubmed
15067037
uniprot
proteins
pubmed
15193700
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
26545377
uniprot
proteins
pubmed
31331973
uniprot
proteins
pubmed
7532185
uniprot
proteins
pubmed
7678552
uniprot
proteins
pubmed
7678782
uniprot
proteins
pubmed
7679206
uniprot
proteins
pubmed
7679801
uniprot
proteins
pubmed
7717401
uniprot
proteins
pubmed
7999797
uniprot
proteins
pubmed
8094231
uniprot
proteins
pubmed
8550833
uniprot
proteins
pubmed
8589998
uniprot
proteins
pubmed
8617933
uniprot
proteins
pubmed
8626375
uniprot
proteins
pubmed
8889581
uniprot
proteins
pubmed
9150729
uniprot
proteins
pubmed
9605317
uniprot
proteins
pubmed
9746782
uniprot
proteins
sequence_length
261
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:8626375}; Single-pass type II membrane protein {ECO:0000303|PubMed:8626375}. Cell surface {ECO:0000269|PubMed:15067037, ECO:0000269|PubMed:7678552}.; SUBCELLULAR LOCATION: [CD40 ligand, soluble form]: Secreted {ECO:0000269|PubMed:8626375}. Note=Release of soluble CD40L from platelets is partially regulated by GP IIb/IIIa, actin polymerization, and a matrix metalloproteinases (MMP) inhibitor-sensitive pathway. {ECO:0000269|PubMed:15193700}.
uniprot
proteins
transmembrane_region
TRANSMEM 23..46; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins