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PDCD1 (programmed cell death 1)
Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5133
Gene nameGene Name - the full gene name approved by the HGNC.
Programmed cell death 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
PDCD1
SynonymsGene synonyms aliases
ADMIO4, AIMTBS, CD279, PD-1, PD1, SLEB2, hPD-1, hPD-l, hSLE1
ChromosomeChromosome number
2
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q37.3
SummarySummary 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
miRNAmiRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
YLCGAISLAPKAQIKESLRAELRVTERRAEVPTAHPSPSPRPAGQFQTLVVGVVGGLLGS
LVLLVWVLAVICSRAARGTIGARRTGQPLKEDPSAVPVFSVDYGELDFQWREKTPEPPVP
CVPEQTEYATIVFPSGMGTSSPARRGSADGPRSAQPLRPEDGHCSWPL
Sequence length 288
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
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
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Melanoma melanoma rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs1563902635, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050 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, rs483353038, rs61731956, rs568165874, rs767480544
Systemic lupus erythematosus Systemic lupus erythematosus rs77571059, rs10954213, rs2070197, rs72556554, rs3219018, rs121912990, rs1575496354, rs7574865, rs1307379746, rs758750492, rs1575497576
Unknown
Disease name Disease term dbSNP ID References
Central nervous system demyelination Central nervous system demyelination
Lupus erythematosus Lupus Erythematosus, Systemic 12402038
Mental depression Depressive disorder rs587778876, rs587778877
Mood swings Mood swings

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