Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5133
Gene name Gene Name - the full gene name approved by the HGNC.
Programmed cell death 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PDCD1
Synonyms (NCBI Gene) Gene synonyms aliases
ADMIO4, AIMTBS, CD279, PD-1, PD1, SLEB2, hPD-1, hPD-l, hSLE1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
AIMTBS, SLEB2
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q37.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002250 Process Adaptive immune response IEA
GO:0005515 Function Protein binding IPI 15240681, 17489864, 20587542, 21982860, 23417675, 26602187, 28046066, 30487606
GO:0005886 Component Plasma membrane TAS
GO:0006915 Process Apoptotic process IEA
GO:0006959 Process Humoral immune response TAS 9332365
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600244 8760 ENSG00000188389
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Melanoma melanoma rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340
View all (64 more)
21802280
Multiple sclerosis Multiple Sclerosis, Multiple Sclerosis, Acute Fulminating, NON RARE IN EUROPE: Multiple sclerosis rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039
View all (4 more)
Systemic lupus erythematosus Systemic lupus erythematosus rs72556554, rs1575496354, rs1307379746, rs758750492, rs1575497576
Unknown
Disease term Disease name Evidence References Source
Mental depression Depressive disorder ClinVar
Dermatitis Dermatitis GWAS
Associations from Text Mining
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