PD1

Induced at programmed cell death.

The protein expressed by the gene PDCD1 functions as an inhibitory receptor on antigen-activated T-cells, playing a critical role in the induction and maintenance of immune tolerance to self. It delivers inhibitory signals by binding to the ligands CD274/PDCD1L1 and CD273/PDCD1LG2. Tumors exploit the PDCD1-mediated inhibitory pathway to attenuate anti-tumor immunity, enabling tumor survival by evading immune system destruction. The interaction with CD274/PDCD1L1 inhibits the effector function of cytotoxic T lymphocytes (CTLs). Blocking the PDCD1-mediated pathway can reverse the exhausted T-cell phenotype and normalize the anti-tumor response, providing a rationale for cancer immunotherapy. This supplementary information is collated from multiple sources and compiled automatically.

Systemic lupus erythematosus 2

SLEB2

A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow.

None

Disease susceptibility is associated with variants affecting the gene represented in this entry.

Ubiquitinated at Lys-233 by the SCF(FBXO38) complex, leading to its proteasomal degradation (PubMed:30487606). Ubiquitinated via 'Lys-48'-linked polyubiquitin chains (PubMed:30487606).

Tyrosine phosphorylated at Tyr-223 (within ITIM motif) and Tyr-248 (ITSM motif) upon ligand binding. Phosphorylation at Tyr-248 promotes the recruitment of the protein tyrosine phosphatase PTPN11/SHP-2 that mediates dephosphorylation of key TCR proximal signaling molecules, such as ZAP70, PRKCQ/PKCtheta and CD247/CD3zeta.

N-glycosylation at Asn-58 contains at least two N-acetylglucosamine units and one fucose (PubMed:28165004). N-glycosylation does not affect binding to nivolumab drug (PubMed:28165004).

• Cell membrane
• Single-pass type I membrane protein

CD279, PD1, PDCD1, Programmed cell death protein 1, Protein PD-1, hPD-1

• entrezGene:5133
• omim:600244
• swissprot:Q15116

Proteins

Immunology & Infectious Disease

31647Da