• Gene id: 5133

Gene Summary

• Gene Symbol: PDCD1   Gene   UCSC   Ensembl
• Aliases: CD279, PD-1, PD1, SLEB2, hPD-1, hPD-l, hSLE1
• Gene name: programmed cell death 1
• Alternate names: programmed cell death protein 1, programmed cell death 1 protein, protein PD-1, systemic lupus erythematosus susceptibility 2,
• Gene location: 2q37.3 (32013693: 32060858)     Exons: 11     NC_000001.11
• Gene summary(Entrez): This gene encodes a cell surface membrane protein of the immunoglobulin superfamily. This protein is expressed in pro-B-cells and is thought to play a role in their differentiation. In mice, expression of this gene is induced in the thymus when anti-CD3 a
• OMIM: 600244

Protein Summary

• Protein general information: Q15116  
  • Name: Programmed cell death protein 1 (Protein PD 1) (hPD 1) (CD antigen CD279)
  • Length: 288  
  • Mass: 31,647
• Sequence:

  MQIPQAPWPVVWAVLQLGWRPGWFLDSPDRPWNPPTFSPALLVVTEGDNATFTCSFSNTSESFVLNWYRMSPSNQ
  TDKLAAFPEDRSQPGQDCRFRVTQLPNGRDFHMSVVRARRNDSGTYLCGAISLAPKAQIKESLRAELRVTERRAE
  VPTAHPSPSPRPAGQFQTLVVGVVGGLLGSLVLLVWVLAVICSRAARGTIGARRTGQPLKEDPSAVPVFSVDYGE
  LDFQWREKTPEPPVPCVPEQTEYATIVFPSGMGTSSPARRGSADGPRSAQPLRPEDGHCSWPL

• Structural information:
  • Protein Domains: Ig-like (35-145)
  • Interpro: IPR007110  IPR036179  IPR013783  IPR003599  IPR013106  
  • Prosite: PS50835
  • PDB: 2M2D 3RRQ 4ZQK 5B8C 5GGR 5GGS 5IUS 5JXE 5WT9
  • PDBsum: 2M2D 3RRQ 4ZQK 5B8C 5GGR 5GGS 5IUS 5JXE 5WT9
  • DIP: 44126
  • STRING: ENSP00000335062
• Other Databases: GeneCards:  PDCD1  Malacards:  PDCD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002644	negative regulation of tolerance induction	IEA	biological process
GO:0004871	signal transducer activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0006959	humoral immune response	TAS	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0007275	multicellular organism development	TAS	biological process
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0031295	T cell costimulation	TAS	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0070234	positive regulation of T cell apoptotic process	IDA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0002644	negative regulation of tolerance induction	IEA	biological process
GO:0004871	signal transducer activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0006915	apoptotic process	TAS	biological process
GO:0006959	humoral immune response	TAS	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0007275	multicellular organism development	TAS	biological process
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0031295	T cell costimulation	TAS	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0070234	positive regulation of T cell apoptotic process	IDA	biological process
GO:0004871	signal transducer activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006915	apoptotic process	TAS	biological process
GO:0006959	humoral immune response	TAS	biological process
GO:0007275	multicellular organism development	TAS	biological process
GO:0031295	T cell costimulation	TAS	biological process
GO:0070234	positive regulation of T cell apoptotic process	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04514	Cell adhesion molecules
hsa04660	T cell receptor signaling pathway
hsa05235	PD-L1 expression and PD-1 checkpoint pathway in cancer

Diseases

Associated diseases	References
Cancer	GAD: 19959217
Cancer (cervical)	GAD: 18337305
Cancer (cholangiocarcinoma)	GAD: 19263877
Cancer (leukemia)	GAD: 20959405
Cardiovascular disease	GAD: 17002900
Myocardial Infarction	GAD: 17002900
Graves disease	GAD: 18322304
Addison's disease	GAD: 17535987
Alveolitis	GAD: 20447384
Ankylosing spondylitis	GAD: 17064404
Autoimmune diseases	GAD: 18041714
Ulcerative colitis	GAD: 19160029
Inflammatory bowel disease	GAD: 15959535
Ulcerative colitis	GAD: 19160029
Rheumatoid arthritis	GAD: 15188352
Inflammatory disease	GAD: 15959535
Systemic lupus erythematosus (SLE)	KEGG: H00080
Multiple sclerosis	KEGG: H01490
Diabetes	GAD: 15883854
Rasmussen encephalitis	KEGG: H01812
Uveomeningoencephalitic syndrome	GAD: 19234630
Antisperm antibody-related infertility	MIK: 25399062
Wegener granulomatosis	GAD: 19449188
Antisperm antibody-related infertility	MIK: 25399062
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25399062	Antisperm antibody-related infertility	G/A genotype, G/G and A/A genotype	Iranian	145 (61 patients with antisperm antibody-related infertility and 84 healthy controls)	Male infertility
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq