P29965

PTMD Annotation Information

※ Protein Information

Tag	Content
UniProt Accession	CD40L_HUMAN; P29965;
Entrez ID	959
GenBank Protein ID
GenBank Nucleotide ID
Protein Name	CD40 ligand (CD40-L) (T-cell antigen Gp39) (TNF-related activation protein) (TRAP) (Tumor necrosis factor ligand superfamily member 5) (CD antigen CD154) [Cleaved into: CD40 ligand, membrane form; CD40 ligand, soluble form]
Gene Name	CD40LG; CD40L; TNFSF5; TRAP
Organism	Homo sapiens
NCBI Taxa ID	9606
Functional Description	Cytokine that binds to CD40/TNFRSF5 (PubMed:1280226). Costimulates T-cell proliferation and cytokine production. 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 and kinases MAPK8 and PAK2 in T-cells. 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. Involved in immunoglobulin class switching (By similarity).;Release of soluble CD40L from platelets is partially regulated by GP IIb/IIIa, actin polymerization, and an matrix metalloproteinases (MMP) inhibitor-sensitive pathway. Functional Description Cytokine that binds to CD40/TNFRSF5 (PubMed:1280226). Costimulates T-cell proliferation and cytokine production. 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 and kinases MAPK8 and PAK2 in T-cells. 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. Involved in immunoglobulin class switching (By similarity).;Release of soluble CD40L from platelets is partially regulated by GP IIb/IIIa, actin polymerization, and an matrix metalloproteinases (MMP) inhibitor-sensitive pathway.
Sequence (Fasta)	MIETYNQTSP RSAATGLPIS MKIFMYLLTV FLITQMIGSA LFAVYLHRRL DKIEDERNLH 60 EDFVFMKTIQ RCNTGERSLS LLNCEEIKSQ FEGFVKDIML NKEETKKENS FEMQKGDQNP 120 QIAAHVISEA SSKTTSVLQW AEKGYYTMSN NLVTLENGKQ LTVKRQGLYY IYAQVTFCSN 180 REASSQAPFI ASLCLKSPGR FERILLRAAN THSSAKPCGQ QSIHLGGVFE LQPGASVFVN 240 VTDPSQVSHG TGFTSFGLLK L 262 Fasta Sequence >P29965\|CD40LG; CD40L; TNFSF5; TRAP\|Homo sapiens (Human) MIETYNQTSPRSAATGLPISMKIFMYLLTVFLITQMIGSALFAVYLHRRLDKIEDERNLHEDFVFMKTIQRCNTGERSLSLLNCEEIKSQFEGFVKDIMLNKEETKKENSFEMQKGDQNPQIAAHVISEASSKTTSVLQWAEKGYYTMSNNLVTLENGKQLTVKRQGLYYIYAQVTFCSNREASSQAPFIASLCLKSPGRFERILLRAANTHSSAKPCGQQSIHLGGVFELQPGASVFVNVTDPSQVSHGTGFTSFGLLKL

※ PTM-Disease Association

Num	PTM	Disease	Cell Type	Type	PTM Site	PMID
1	Glycosylation	Hyper-IgM syndrome		C	N147	15924140
1	[Reference]: We identified three children with mendelian susceptibility to mycobacterial disease who were homozygous with respect to a missense mutation in IFNGR2 creating a new N-glycosylation site in the IFNR2 chain.
2	Glycosylation	Hyper-IgM syndrome		C	N211	15924140
2	[Reference]: We identified three children with mendelian susceptibility to mycobacterial disease who were homozygous with respect to a missense mutation in IFNGR2 creating a new N-glycosylation site in the IFNR2 chain.

※ Disease Cross-ref Annotation

Database	Annotation
CTD (Curated) (count: 8) (view all)	MESH:D000690 ; Amyotrophic Lateral Sclerosis MESH:D001327 ; Autoimmune Diseases MESH:D003324 ; Coronary Artery Disease MESH:D053307 ; Hyper-IgM Immunodeficiency Syndrome, Type 1 MESH:D006967 ; Hypersensitivity MESH:D006976 ; Hypertension, Pulmonary MESH:D009336 ; Necrosis MESH:D011014 ; Pneumonia
HGMD (count: 161) (view all)	CE045732; Systemic lupus erythematosus, association with; Repeat variations CD076768; Hyper-IgM syndrome; Small deletions CD050481; Hyper-IgM syndrome; Small deletions CD961880; Hyper-IgM syndrome; Small deletions CD080799; Hyper-IgM syndrome; Small deletions CD050480; Hyper-IgM syndrome; Small deletions CD034353; Hyper-IgM syndrome; Small deletions CD961882; Hyper-IgM syndrome; Small deletions CD034001; Hyper-IgM syndrome; Small deletions CD014149; Hyper-IgM syndrome; Small deletions CD034352; Hyper-IgM syndrome; Small deletions CD014668; Hyper-IgM syndrome; Small deletions CD034354; Hyper-IgM syndrome; Small deletions CD050479; Hyper-IgM syndrome; Small deletions CD972113; Hyper-IgM syndrome; Small deletions CD984592; Hyper-IgM syndrome; Small deletions CD050483; Hyper-IgM syndrome; Small deletions CD972112; Hyper-IgM syndrome; Small deletions CD050477; Hyper-IgM syndrome; Small deletions CD961878; Hyper-IgM syndrome; Small deletions CD050478; Hyper-IgM syndrome; Small deletions CD045337; Hyper-IgM syndrome; Small deletions CD086743; Hyper-IgM syndrome; Small deletions CD050476; Hyper-IgM syndrome; Small deletions CD963011; Hyper-IgM syndrome; Small deletions CD972114; Hyper-IgM syndrome; Small deletions CD951645; Hyper-IgM syndrome; Small deletions CD961881; Hyper-IgM syndrome; Small deletions CD004590; Hyper-IgM syndrome; Small deletions CD050475; Hyper-IgM syndrome; Small deletions CD050482; Hyper-IgM syndrome; Small deletions CD034355; Hyper-IgM syndrome; Small deletions CD930917; Hyper-IgM syndrome; Small deletions CD961879; Hyper-IgM syndrome; Small deletions CD973645; Hyper-IgM syndrome; Small deletions CG962957; Hyper-IgM syndrome; Gross deletions CG035350; Hyper-IgM syndrome; Gross deletions CG056910; Hyper-IgM syndrome; Gross deletions CG052759; Hyper-IgM syndrome; Gross deletions CG052760; Hyper-IgM syndrome; Gross deletions CG931336; Hyper-IgM syndrome; Gross deletions CG984480; Hyper-IgM syndrome; Gross deletions CN072785; Hyper-IgM syndrome; Gross insertions CX962373; Hypogammaglobulinaemia; Small indels CP931383; Hyper-IgM syndrome; Small indels CX034376; Hyper-IgM syndrome; Small indels CI951918; Hyper-IgM syndrome; Small insertions CI951920; Hyper-IgM syndrome; Small insertions CI050513; Hyper-IgM syndrome; Small insertions CI034373; Hyper-IgM syndrome; Small insertions CI984049; Hyper-IgM syndrome; Small insertions CI962412; Hyper-IgM syndrome; Small insertions CI963013; Hyper-IgM syndrome; Small insertions CI962236; Hyper-IgM syndrome; Small insertions CI951917; Hyper-IgM syndrome; Small insertions CI050514; Hyper-IgM syndrome; Small insertions CI973649; Hyper-IgM syndrome; Small insertions CI973650; Hyper-IgM syndrome; Small insertions CI973651; Hyper-IgM syndrome; Small insertions CI963014; Hyper-IgM syndrome; Small insertions CI951919; Hyper-IgM syndrome; Small insertions CI962237; Hyper-IgM syndrome; Small insertions CI984048; Hyper-IgM syndrome; Small insertions CM980314; Hyper-IgM syndrome; Missense/nonsense CM050342; Hyper-IgM syndrome; Missense/nonsense CM930084; Hyper-IgM syndrome; Missense/nonsense CM960250; Hyper-IgM syndrome; Missense/nonsense CM950218; Hyper-IgM syndrome; Missense/nonsense CM011011; Hyper-IgM syndrome; Missense/nonsense CM033821; Hyper-IgM syndrome; Missense/nonsense CM980315; Hyper-IgM syndrome; Missense/nonsense CM050343; Hyper-IgM syndrome; Missense/nonsense CM960251; Hyper-IgM syndrome; Missense/nonsense CM960252; Hyper-IgM syndrome; Missense/nonsense CM950219; Hyper-IgM syndrome; Missense/nonsense CM056939; Hyper-IgM syndrome; Missense/nonsense CM054160; Hyper-IgM syndrome; Missense/nonsense CM034929; Hyper-IgM syndrome; Missense/nonsense CM962549; Hyper-IgM syndrome; Missense/nonsense CM930085; Hyper-IgM syndrome; Missense/nonsense CM960253; Hyper-IgM syndrome; Missense/nonsense CM025242; Hyper-IgM syndrome; Missense/nonsense CM950220; Hyper-IgM syndrome; Missense/nonsense CM984228; Hyper-IgM syndrome; Missense/nonsense CM050344; Hyper-IgM syndrome; Missense/nonsense CM050345; Hyper-IgM syndrome; Missense/nonsense CM950222; Hyper-IgM syndrome; Missense/nonsense CM930089; Hyper-IgM syndrome; Missense/nonsense CM930088; Hyper-IgM syndrome; Missense/nonsense CM950221; Hyper-IgM syndrome; Missense/nonsense CM970246; Hyper-IgM syndrome; Missense/nonsense CM963008; Hyper-IgM syndrome; Missense/nonsense CM950223; Hyper-IgM syndrome; Missense/nonsense CM050346; Hyper-IgM syndrome; Missense/nonsense CM960254; Hyper-IgM syndrome; Missense/nonsense CM960255; Hyper-IgM syndrome; Missense/nonsense CM050347; Hyper-IgM syndrome; Missense/nonsense CM054161; Hyper-IgM syndrome; Missense/nonsense HM060039; Hyper-IgM syndrome; Missense/nonsense CM056305; Hyper-IgM syndrome; Missense/nonsense CM050348; Hyper-IgM syndrome; Missense/nonsense CM960256; Hyper-IgM syndrome; Missense/nonsense CM960257; Hyper-IgM syndrome; Missense/nonsense CM962550; Hyper-IgM syndrome; Missense/nonsense CM960258; Hyper-IgM syndrome; Missense/nonsense CM050349; Hyper-IgM syndrome; Missense/nonsense CM011012; Hyper-IgM syndrome; Missense/nonsense CM970247; Hyper-IgM syndrome; Missense/nonsense CM980316; Hyper-IgM syndrome; Missense/nonsense CM983683; Hyper-IgM syndrome; Missense/nonsense CM960259; Hyper-IgM syndrome; Missense/nonsense CM962551; Hyper-IgM syndrome; Missense/nonsense CM050350; Hyper-IgM syndrome; Missense/nonsense CM004495; Hyper-IgM syndrome; Missense/nonsense CM025241; Hyper-IgM syndrome; Missense/nonsense CM930090; Hyper-IgM syndrome; Missense/nonsense CM970248; Hyper-IgM syndrome; Missense/nonsense CM962552; Hyper-IgM syndrome; Missense/nonsense CM940225; Hyper-IgM syndrome; Missense/nonsense CM033985; Hyper-IgM syndrome; Missense/nonsense CM025243; Hyper-IgM syndrome; Missense/nonsense CM973625; Hyper-IgM syndrome; Missense/nonsense CM091083; Hyper-IgM syndrome; Missense/nonsense CM960260; Hyper-IgM syndrome; Missense/nonsense CM091085; Hyper-IgM syndrome; Missense/nonsense CM970249; Hyper-IgM syndrome; Missense/nonsense CM960261; Hyper-IgM syndrome; Missense/nonsense CM930091; Hyper-IgM syndrome; Missense/nonsense CM960262; Hyper-IgM syndrome; Missense/nonsense CM960263; Hyper-IgM syndrome; Missense/nonsense CM076083; Hyper-IgM syndrome; Missense/nonsense CM960264; Hyper-IgM syndrome; Missense/nonsense CM994240; Hyper-IgM syndrome; Missense/nonsense CM960265; Hyper-IgM syndrome; Missense/nonsense CM960266; Hyper-IgM syndrome; Missense/nonsense CR073541; Hyper-IgM syndrome; Regulatory CR063398; Increased soluble CD40L levels, association with; Regulatory CS984009; Hyper-IgM syndrome; Splicing CS050418; Hyper-IgM syndrome; Splicing CS962405; Hyper-IgM syndrome; Splicing CS971642; Hyper-IgM syndrome; Splicing CS025272; Hyper-IgM syndrome; Splicing CS982107; Hyper-IgM syndrome; Splicing CS034321; Hyper-IgM syndrome; Splicing CS034933; Hyper-IgM syndrome; Splicing CS050419; Hyper-IgM syndrome; Splicing CS982109; Hyper-IgM syndrome; Splicing CS055566; Hyper-IgM syndrome; Splicing CS962406; Hyper-IgM syndrome; Splicing CS050421; Hyper-IgM syndrome; Splicing CS961502; Hyper-IgM syndrome; Splicing CS963009; Hyper-IgM syndrome; Splicing CS050420; Hyper-IgM syndrome; Splicing CS034322; Hyper-IgM syndrome; Splicing CS033990; Hyper-IgM syndrome; Splicing CS982110; Hyper-IgM syndrome; Splicing CS004619; Hyper-IgM syndrome; Splicing CS963010; Hyper-IgM syndrome; Splicing CS971643; Hyper-IgM syndrome; Splicing CS962407; Hyper-IgM syndrome; Splicing CS050422; Hyper-IgM syndrome; Splicing
GWASdb (count: 1)	rs5930973; Alcohol dependence; alcohol dependence

※ PTM Sites

PTM	Modification Sites
Phosphorylation (count: 2)	4 **MIETYNQTSPR dbPAF 5 *MIETYNQTSPRS dbPAF

※ Protein-Protein Interaction

Network

Interaction

A

B

Source

O43866	P29965	HPRD
P01857	P29965	HPRD
P04637	P29965	HPRD
P06309	P29965	HPRD
P25942	P29965	HPRD; DIP
P29965	P29965	HPRD
P29965	Q8TEB7	HPRD