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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE CHRONIC HEPATITIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE ClinGen, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 4 HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute pancreatitis Pancreatitis BEFREE 28705256
★☆☆☆☆
Found in Text Mining only
Adamantinous Craniopharyngioma Adamantinous Craniopharyngioma BEFREE 29509940
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 26081225, 26134222, 26183759, 27403614, 29675791, 30616523
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 28429196
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 29332341
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 27346415, 28039262, 28664936, 28870260, 29127022, 29176936, 30197262, 30544423, 31159869, 31540976, 31605439, 31718573
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 31644329, 38415841, 40109215 Associate
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 29118007
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 28097534, 28473905, 28648302, 29222273, 29222312, 29698935, 30564891, 31581738
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia LHGDN 18830259
★☆☆☆☆
Found in Text Mining only