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FLASH GENE
Symbol PDCD1 contributors: mct - updated : 02-01-2017
HGNC name programmed cell death 1
HGNC id 8760
Location 2q37.3      Physical location : 242.792.033 - 242.801.058
Synonym name
  • protein PD-1
  • systemic lupus erythematosus susceptibility 2
  • programmed death 1
  • Synonym symbol(s) PD1, hPD-l, PCD1, CD279, PD-1, SLEB2, hSLE1
    DNA
    TYPE functioning gene
    STRUCTURE 9.03 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    Physical map
    LOC391502 2 similar to Gamma-2-syntrophin (G2SYN) (Syntrophin 5) (SYN5) LOC391500 2 similar to Hypothetical protein CBG17025 SNTG2 2p25 syntrophin, gamma 2 FLJ33590 2q37.3 hypothetical protein FLJ33590 LOC285095 2q37.3 hypothetical LOC285095 PDCD1 2q37.3 programmed cell death 1 LOC389091 2 LOC389091 LOC391501 2 similar to Hypothetical protein CBG20540 MGC25181 2q37.3 hypothetical protein MGC25181 SH3YL1 2p25.3 SH3 domain containing, Ysc84-like 1 (S. cerevisiae) ACP1 2p25 acid phosphatase 1, soluble LOC285016 2p25.3 hypothetical protein LOC285016 LOC285018 U43627 similar to Contains similarity to extensin (atExt1) from Arabidopsis thaliana gb LOC391342 2 similar to Hypothetical protein CBG24508 DKFZp434C1714 LOC200493 2p25.3 similar to ENSANGP00000000189 LOC200491 2p25.3 hypothetical LOC200491 LOC391343 2 similar to serine/arginine repetitive matrix 2 LOC388920 2 LOC388920 LOC388921 LOC348719 TPO 2p25-p24 thyroid peroxidase LOC391344 2 similar to LWamide neuropeptide precursor protein LOC391345 2 similar to splicing factor 3a, subunit 2 LOC391346 2 similar to hypothetical protein LOC391347 2 similar to Mucin 2 precursor (Intestinal mucin 2)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 2115 - 288 - 1997 9332365
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systembreastmammary gland  
    Urinarykidney    
    Visualeyeretina    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticmonocyte Homo sapiens
    Lymphoid/ImmuneB cell Homo sapiens
    Lymphoid/Immunedendritic cell Homo sapiens
    Lymphoid/ImmuneT cell Homo sapiens
    Visualganglion cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • tyrosine kinase association motif
  • one immunoglobulin-like V-type domain
  • conjugated PhosphoP
    HOMOLOGY
    interspecies homolog to murine Pd1
    Homologene
    FAMILY immunoglobulin superfamily
    CATEGORY receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • may be involved in apoptosis or B-cell differentiation
  • acting as an inhibitory molecule on T cells after interacting with its ligands CD274 and PDCD1LG2
  • play an important role in the negative regulation of immune reactions with its ligands CD274 and PDCD1LG2
  • blocks cell cycle progression and proliferation of T lymphocytes by affecting multiple regulators of the cell cycle
  • as reported in T cells, PDCD1/CD274 complexes acted as inhibitors of the B-cell activation cascade
  • potent regulator of immune responses and a promising therapeutic target
  • promotes immune exhaustion by inducing antiviral T cell motility paralysis
  • shapes memory phenotype CD8 T cell subsets in a cell-intrinsic manner
  • role of the PDCD1/CD274 pathway in regulating lymphocyte activation, promotion of T regulatory cell development and function, breakdown of tolerance and development of autoimmunity
  • inhibits inflammatory helper T-cell development through controlling the innate immune response
  • modulates steady-state and infection-induced IL10 production
  • expressed in innate cells, including activated DCs, and plays roles in suppressing production of inflammatory cytokines
  • plays an important role in apoptosis of activated Dendritic cells, suggesting important implications for PDCD1-mediated immune regulation
  • is dispensable for thymic Treg-cell development and suppressive function, but is critical for the extrathymic differentiation of pTreg cells
  • primary role for PDCD1 is to restrain T-cell activation/proliferation to self-Ags rather than promote generation of Treg cells
  • is responsible for T cell exhaustion during chronic viral infections and is expressed on a variety of immune cells following activation
  • plays a vital role in down-modulating immune responses and maintaining peripheral tolerance
  • important roles of HAVCR2 and PDCD1 pathways in regulating decidual CD8+ T-cell function and maintaining normal pregnancy
  • novel role for PDCD1 in preserving "exhausted" CD8(+) T cells (TEX cells) populations from overstimulation, excessive proliferation, and terminal differentiation
  • is a key negative receptor inducibly expressed on T cells, B cells and dendritic cells
  • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
  • PDCD1:CD274 pathway functions in modification of maternal decidual lymphocyte cytokine secretion during pregnancy (Taglauer 2008)
  • Treg cells may through PDCD1/CD274 pathway play a role of immunosuppression regulation, and the impairment of Treg cells function in recurrent early abortion cases may be due to CD274 decrease in deciduas or trophoblast cells rather than PDCD1 change
  • a component
  • constituent of cell surface membrane
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • with its receptor PDCD1LG2, CD274
  • T-cell FOS subsequently induces PDCD1 expression in response to tumor progression
  • is a potential downstream target of FOS in tumor-infiltrating T cells
  • potent inhibitory receptor of T cells which binds to two different ligands, namely CD274 and PDCD1LG2, and upon binding, it inhibits T cell activation, differentiation, and proliferation, leading to a state of immune tolerance
  • PDCD1 promotes fatty acid beta-oxidation (FAO) of endogenous lipids by increasing expression of CPT1A, and inducing lipolysis as indicated by elevation of the lipase PNPLA2, the lipolysis marker glycerol and release of fatty acids
  • NFKB1 regulates PDCD1 expression in macrophages
  • PDCD1 blocked NFKB1-dependent cytokine release in a PTPN11-dependent manner
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    significantly higher in subacute sclerosing panencephalitis patients than in the controls (Ishizaki 2010)
    constitutional       gain of function
    after optic nerve crush
    Susceptibility
  • to childhood-onset systemic lupus erythematosus(SLEB2), (Prokunina 2002)
  • to type 1 diabetes mellitus in Japanese
  • to systemic lupus erythematosus (SLE)
  • to cancer
  • Variant & Polymorphism SNP
  • intronic SNP increases the risk of systemic lupus erythematosus(SLEB2)in Europeans
  • association of the PD1.3A allele with lupus nephritis in European and SLE in Latin-American populations; furthermore, the PD1.5C allele was associated with SLE susceptibility in Europeans (Lee 2010)
  • PDCD-1.5 (rs2227981) and PDCD-1.3 (rs11568821) polymorphisms are associated with susceptibility of cancer
  • Candidate gene
    Marker
  • could be a marker for human cutaneous mastocytosis and regulate the growth of human PDCD1-positive mastocytosis cells
  • expression of PDCD1 identifies a diverse and patient-specific antitumor T cell response in peripheral blood, providing a novel noninvasive strategy to develop personalized therapies using neoantigen-reactive lymphocytes or TCRs to treat cancer
  • Therapy target
    SystemTypeDisorderPubmed
    immunologyinfectious 
    potential therapeutic target for designing measures to modulate the innate immune response, thereby preventing the detrimental effects of sepsis
    cancerskin 
    dual TIGIT and PDCD1 blockade should be further explored to elicit potent antitumor CD8⁺ T cell responses in patients with advanced melanoma
    ANIMAL & CELL MODELS
  • Pdcd1-deficient mice have increased susceptibility to T. gondii, with increased parasite cyst counts