PDCD1 gene

GPTKB entity

Statements (54)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alternativeName gptkb:CD279
gptkb:PD-1
Programmed cell death 1
gptkbp:associatedWith gptkb:immunotherapy
autoimmune diseases
gptkbp:discoveredBy gptkb:Tasuku_Honjo
gptkbp:discoveredIn 1992
gptkbp:encodes gptkb:Programmed_cell_death_protein_1
gptkbp:Entrez_Gene_ID 5133
ENSG00000188389
PDCD1
gptkbp:expressedIn gptkb:B_cells
gptkb:T_cells
myeloid cells
gptkbp:function regulation of immune response
gptkbp:GO_term gptkb:GO:0006955_(immune_response)
GO:0001816 (cytokine production)
gptkbp:HGNC_ID gptkb:HGNC:8765
gptkbp:interactsWith gptkb:PD-L2
PD-L1
gptkbp:involvedIn immune checkpoint pathway
gptkbp:locatedOnChromosome chromosome 2
2q37.3
gptkbp:mutationAssociatedWith gptkb:systemic_lupus_erythematosus
multiple sclerosis
type 1 diabetes
rheumatoid arthritis
cancer susceptibility
gptkbp:OMIM 600244
gptkbp:organism gptkb:Homo_sapiens
gptkbp:orthologInMouse Pdcd1
gptkbp:product gptkb:PD-1
gptkbp:proteinFamily gptkb:immunoglobulin_superfamily
transmembrane domain
cytoplasmic tail
IgV-like domain
gptkbp:regulates T cell activation
autoimmunity
immune exhaustion
peripheral tolerance
gptkbp:reviewedBy gptkb:GeneCards
gptkb:NCBI_Gene
gptkb:UniProtKB/Swiss-Prot
gptkbp:target immune checkpoint inhibitors
gptkbp:targetOfDrug gptkb:pembrolizumab
gptkb:cemiplimab
gptkb:nivolumab
gptkbp:UniProtID Q15116
gptkbp:bfsParent gptkb:programmed_cell_death_protein_1_(PD-1)
gptkb:CD279
gptkb:PD-1
gptkbp:bfsLayer 8
https://www.w3.org/2000/01/rdf-schema#label PDCD1 gene