Programmed cell death 1

Programmed cell death 1
Identifiers
Symbols	PDCD1; CD279; PD-1; PD1; SLEB2; hPD-1; hPD-l
External IDs	OMIM: 600244 MGI: 104879 HomoloGene: 3681 GeneCards: PDCD1 Gene
Gene Ontology Molecular function • protein tyrosine phosphatase activity • signal transducer activity Cellular component • plasma membrane • plasma membrane • external side of plasma membrane • integral to membrane Biological process • apoptosis • humoral immune response • signal transduction • multicellular organismal development • T cell costimulation • peptidyl-tyrosine dephosphorylation Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	5133	18566
Ensembl	ENSG00000188389	ENSMUSG00000026285
UniProt	Q15116	Q544F3
RefSeq (mRNA)	NM_005018	NM_008798.2
RefSeq (protein)	NP_005009	NP_032824.1
Location (UCSC)	Chr 2: 242.79 – 242.8 Mb	Chr 1: 95.93 – 95.95 Mb
PubMed search	[1]	[2]

Programmed cell death protein 1 is a protein that in humans is encoded by the PDCD1 gene.^[1][2] PDCD1 has also been designated as CD279 (cluster of differentiation 279).

This gene encodes a cell surface membrane protein of the immunoglobulin superfamily. This protein is expressed in pro-B-cells and is thought to play a role in their differentiation. In mice, expression of this gene is induced in the thymus when anti-CD3 antibodies are injected and large numbers of thymocytes undergo apoptosis. Mice deficient for this gene bred on a BALB/c background developed dilated cardiomyopathy and died from congestive heart failure. These studies suggest that this gene product may also be important in T cell function and contribute to the prevention of autoimmune diseases.^[2]

References

1. ^ Shinohara T, Taniwaki M, Ishida Y, Kawaichi M, Honjo T (Mar 1995). "Structure and chromosomal localization of the human PD-1 gene (PDCD1)". Genomics 23 (3): 704–6. doi:10.1006/geno.1994.1562. PMID 7851902. 
2. ^ ^{a b} "Entrez Gene: PDCD1 programmed cell death 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5133. 

Further reading

• Ishida Y, Agata Y, Shibahara K, Honjo T (1992). "Induced expression of PD-1, a novel member of the immunoglobulin gene superfamily, upon programmed cell death.". EMBO J. 11 (11): 3887–95. PMC 556898. PMID 1396582. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=556898. 
• Vibhakar R, Juan G, Traganos F, et al. (1997). "Activation-induced expression of human programmed death-1 gene in T-lymphocytes.". Exp. Cell Res. 232 (1): 25–8. doi:10.1006/excr.1997.3493. PMID 9141617. 
• Finger LR, Pu J, Wasserman R, et al. (1997). "The human PD-1 gene: complete cDNA, genomic organization, and developmentally regulated expression in B cell progenitors.". Gene 197 (1-2): 177–87. doi:10.1016/S0378-1119(97)00260-6. PMID 9332365. 
• Iwai Y, Okazaki T, Nishimura H, et al. (2003). "Microanatomical localization of PD-1 in human tonsils.". Immunol. Lett. 83 (3): 215–20. doi:10.1016/S0165-2478(02)00088-3. PMID 12095712. 
• Prokunina L, Castillejo-López C, Oberg F, et al. (2003). "A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans.". Nat. Genet. 32 (4): 666–9. doi:10.1038/ng1020. PMID 12402038. 
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• Bennett F, Luxenberg D, Ling V, et al. (2003). "Program death-1 engagement upon TCR activation has distinct effects on costimulation and cytokine-driven proliferation: attenuation of ICOS, IL-4, and IL-21, but not CD28, IL-7, and IL-15 responses.". J. Immunol. 170 (2): 711–8. PMID 12517932. 
• Wang S, Bajorath J, Flies DB, et al. (2003). "Molecular modeling and functional mapping of B7-H1 and B7-DC uncouple costimulatory function from PD-1 interaction.". J. Exp. Med. 197 (9): 1083–91. doi:10.1084/jem.20021752. PMC 2193977. PMID 12719480. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2193977. 
• Youngnak P, Kozono Y, Kozono H, et al. (2003). "Differential binding properties of B7-H1 and B7-DC to programmed death-1.". Biochem. Biophys. Res. Commun. 307 (3): 672–7. doi:10.1016/S0006-291X(03)01257-9. PMID 12893276. 
• Nielsen C, Hansen D, Husby S, et al. (2004). "Association of a putative regulatory polymorphism in the PD-1 gene with susceptibility to type 1 diabetes.". Tissue Antigens 62 (6): 492–7. doi:10.1046/j.1399-0039.2003.00136.x. PMID 14617032. 
• Prokunina L, Gunnarsson I, Sturfelt G, et al. (2004). "The systemic lupus erythematosus-associated PDCD1 polymorphism PD1.3A in lupus nephritis.". Arthritis Rheum. 50 (1): 327–8. doi:10.1002/art.11442. PMID 14730631. 
• Lin SC, Yen JH, Tsai JJ, et al. (2004). "Association of a programmed death 1 gene polymorphism with the development of rheumatoid arthritis, but not systemic lupus erythematosus.". Arthritis Rheum. 50 (3): 770–5. doi:10.1002/art.20040. PMID 15022318. 
• Prokunina L, Padyukov L, Bennet A, et al. (2004). "Association of the PD-1.3A allele of the PDCD1 gene in patients with rheumatoid arthritis negative for rheumatoid factor and the shared epitope.". Arthritis Rheum. 50 (6): 1770–3. doi:10.1002/art.20280. PMID 15188352. 
• Sanghera DK, Manzi S, Bontempo F, et al. (2004). "Role of an intronic polymorphism in the PDCD1 gene with the risk of sporadic systemic lupus erythematosus and the occurrence of antiphospholipid antibodies.". Hum. Genet. 115 (5): 393–8. doi:10.1007/s00439-004-1172-0. PMID 15322919. 
• Nielsen C, Laustrup H, Voss A, et al. (2005). "A putative regulatory polymorphism in PD-1 is associated with nephropathy in a population-based cohort of systemic lupus erythematosus patients.". Lupus 13 (7): 510–6. doi:10.1191/0961203303lu1052oa. PMID 15352422. 
• Johansson M, Arlestig L, Möller B, Rantapää-Dahlqvist S (2005). "Association of a PDCD1 polymorphism with renal manifestations in systemic lupus erythematosus.". Arthritis Rheum. 52 (6): 1665–9. doi:10.1002/art.21058. PMID 15934088. 
• Nielsen C, Ohm-Laursen L, Barington T, et al. (2005). "Alternative splice variants of the human PD-1 gene.". Cell. Immunol. 235 (2): 109–16. doi:10.1016/j.cellimm.2005.07.007. PMID 16171790. 
• Parry RV, Chemnitz JM, Frauwirth KA, et al. (2005). "CTLA-4 and PD-1 receptors inhibit T-cell activation by distinct mechanisms.". Mol. Cell. Biol. 25 (21): 9543–53. doi:10.1128/MCB.25.21.9543-9553.2005. PMC 1265804. PMID 16227604. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1265804. 
• Kobayashi M, Kawano S, Hatachi S, et al. (2005). "Enhanced expression of programmed death-1 (PD-1)/PD-L1 in salivary glands of patients with Sjögren's syndrome.". J. Rheumatol. 32 (11): 2156–63. PMID 16265694. 

External links

• MeSH PDCD1+protein,+human