Gene Gene information from NCBI Gene database.
Entrez ID 5133
Gene name Programmed cell death 1
Gene symbol PDCD1
Synonyms (NCBI Gene)
ADMIO4AIMTBSCD279PD-1PD1SLEB2hPD-1hPD-lhSLE1
Chromosome 2
Chromosome location 2q37.3
Summary Programmed cell death protein 1 (PDCD1) is an immune-inhibitory receptor expressed in activated T cells; it is involved in the regulation of T-cell functions, including those of effector CD8+ T cells. In addition, this protein can also promote the differe
miRNA miRNA information provided by mirtarbase database.
330
miRTarBase ID miRNA Experiments Reference
MIRT542838 hsa-miR-497-5p HITS-CLIP 22927820
MIRT542837 hsa-miR-15a-5p HITS-CLIP 22927820
MIRT542836 hsa-miR-424-5p HITS-CLIP 22927820
MIRT542835 hsa-miR-15b-5p HITS-CLIP 22927820
MIRT542834 hsa-miR-195-5p HITS-CLIP 22927820
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0001783 Process B cell apoptotic process IEA
GO:0002250 Process Adaptive immune response IEA
GO:0002376 Process Immune system process IEA
GO:0002644 Process Negative regulation of tolerance induction IEA
GO:0002841 Process Negative regulation of T cell mediated immune response to tumor cell IDA 38377992
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600244 8760 ENSG00000188389
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15116
Protein name Programmed cell death protein 1 (Protein PD-1) (hPD-1) (CD antigen CD279)
Protein function Inhibitory receptor on antigen activated T-cells that plays a critical role in induction and maintenance of immune tolerance to self (PubMed:21276005, PubMed:37208329). Delivers inhibitory signals upon binding to ligands CD274/PDCD1L1 and CD273/
PDB 2M2D , 3RRQ , 4ZQK , 5B8C , 5GGR , 5GGS , 5IUS , 5JXE , 5WT9 , 6HIG , 6J14 , 6J15 , 6JBT , 6JJP , 6K0Y , 6R5G , 6ROY , 6ROZ , 6UMT , 6UMU , 6UMV , 6XKR , 7BXA , 7CGW , 7CU5 , 7E9B , 7VUX , 7WSL , 7WVM , 8AS0 , 8EQ6 , 8GY5 , 8U31 , 8U32 , 9HK1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07686 V-set 37 145 Immunoglobulin V-set domain Domain
Sequence
MQIPQAPWPVVWAVLQLGWRPGWFLDSPDRPWNPPTFSPALLVVTEGDNATFTCSFSNTS
ESFVLNWYRMSPSNQTDKLAAFPEDRSQPGQDCRFRVTQLPNGRDFHMSVVRARRNDSGT
YLCGAISLAPKAQIKESLRAELRVT
ERRAEVPTAHPSPSPRPAGQFQTLVVGVVGGLLGS
LVLLVWVLAVICSRAARGTIGARRTGQPLKEDPSAVPVFSVDYGELDFQWREKTPEPPVP
CVPEQTEYATIVFPSGMGTSSPARRGSADGPRSAQPLRPEDGHCSWPL
Sequence length 288
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cell adhesion molecules
T cell receptor signaling pathway
PD-L1 expression and PD-1 checkpoint pathway in cancer
  PD-1 signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
6
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
PDCD1-related disorder Benign; Likely benign rs2227981, rs773116311, rs760386033, rs370660750 RCV003980768
RCV003939280
RCV003933821
RCV003931658
RCV003942181
RECLASSIFIED - PDCD1 POLYMORPHISM Benign rs11568821 RCV000009832
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency Associate 30783096
Abnormalities Drug Induced Associate 33057635
Acetyl Coa Carboxylase Deficiency Associate 36497046
ACTH Deficiency Isolated Associate 30814440
ACTH Secreting Pituitary Adenoma Associate 33112279
Actinic cheilitis Associate 21442435
Acute Coronary Syndrome Stimulate 26663396
Acute Disease Associate 29636753, 36742309
Acute Lung Injury Associate 37724530
Acute Phase Reaction Inhibit 32639111