|
|
| Record Information |
| Record ID |
18 |
| Pubmed ID |
28451790 |
| SNP |
|
| Gene ID |
5133 |
| Protein ID |
Q15116 |
| Vaccine Adverse Events |
usual type vulvar intraepithelial neoplasia |
| Vaccine |
HPV16 E7 DNA vaccine |
| Gene Name |
PDCD1 |
| Official Symbol |
programmed cell death 1 [Homo sapiens (human)] |
| Aliases |
CD279, PD-1, PD1, SLEB2, hPD-1, hPD-l, hSLE1 |
| Other Designations |
programmed cell death protein 1; programmed cell death 1 protein; protein PD-1; systemic lupus erythematosus susceptibility 2 |
| Chromosome |
2 |
| Location |
2q37.3 |
| Annotation |
Chromosome 2 NC_000002.12 (241849884..241858894, complement) |
| MIM |
600244 |
| DNA Sequence |
>NC_000002.12:241849884-241858894 Homo sapiens chromosome 2, GRCh38.p14 Primary Assembly
TTAGCATGCTCTCATATTTAATTATAATTATAATATAATAGAACCACAGGGAAGGGGGATCCCTTGTCCC
AGCCACTCAGGTGCCTGCTGGCCGCCTGGATGCTGGTGGCCCTGCCCCAGGAGTGGGGGTGCAGTGTGTG
GATGTGAGGAGTGGATAGGCCACGGCGGGGGTACTAGGCCCCGGGGGAACGCCTGTACCTTCCCACCCAG
GCCCTGGTGGGAGCCCGGCCAACCCCTTTAAATAATTTCAGGAATGGGTTCCAAGGAGAGCTCCCAGGGT
GGGCACATGGGGGGCCCTAGGTGCCTGCACTTCTGCCCTCCCAACACCCAGGTGGCCACAGCTGGGAGGG
GCCTGAGTCAACCCCAGCCCTGCCCTCCTGACCTTGGGACCGTAGGATGTCCCTCTCCCGAGTGGTGTGA
GGGGCTGGGGTGGAATGCGGCGGCAGGAGGCCAGAGTGCTGGCTGGGCCTGAAAGGCCTCCAGCTCTGCC
TGCCCGCTTACTGCCTCAGCTTCCCTGCCCCACAAAGGGCCTGAGGTGCTGCCTGGGCATGTGTAAAGGT
GGAGGGGTTTCCTGCCCTGCCCACCACAGCCAGGAGCTCTTCTGACCTTCCCTGAAACTTCTCTAGGCCT
GCAGGGAGCAGATAACTCCTGGGGAGTCCCCAGCCCCATGTACCTCCCACTCCTGTGCCCAGTCTTGGGC
CCTGCGTCCAGGGCGTTTCGGGATGCCACTGCCAGGGGCACCTTGGCTGCTCCAAGGCCATCTCCAACCA
GCCCCCAAGTTCAGGCAGGAGGCTCCGGGGCGTCAGGCAGGGCCACGGCGCCTTCAGCCCCGGGCCGCAG
GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGAGATTCAGGGAGCTGGACGCAGGCAGCTCTGTGCTGGCA
GGACCTGAAGCAGTGACTGCATCTGGCCCTCCCTGTAGGGGACGGTGACACCTGCTGCCTGGGCTCACTG
TGGGCATTGAGACATGAGTCCTGTGGTGGGGCTGTGCCTGGTGCAGGTGCAGGCTGGAGCCCCGGTCGCC
CCCAGGCAGCTCAGCCCCTGGACGGCCTGCAATGGCCTGCACCCTGCCTGCTTCTCCTGAGGAAATGCGC
TGACCCGGGCTCATGGTGGAGGGTCTGCAGAACACTGGTGGCCAAGGAAGCCGGTCAGAGGGGCCAAGAG
CAGTGTCCATCCTCAGGCCTCAGTGGCTGGGCACTCCGAGGGCCGTCAGCTGAGCCCCTGCGGGCGGGGG
ATGAGGTGCCCATTCCGCTAGGAAAGACAATGGTGGCATACTCCGTCTGCTCAGGGACACAGGGCACGGG
GGGCTCCGGGGTCTTCTCTCGCCACTGGAAATCCAGCTCCCCATAGTCCACAGAGAACACAGGCACGGCT
GAGGGGTCCTCCTTCTTTGAGGAGAAAGGGAGAGGGAGTCAGCCCCACGGCCCACCGCAGGAAGGAGGCC
CGCGGCTCCACAGCCTGGCTGCAGTACCGGCACCGAACCTGGGCCCCCCACTATGAGCTGCTTACCCTGA
GCTGTCCCACCACTGCCCTCTGTGTGATCTGGGGACACCACCCCTCCTCTCTGGCTCAATGTCCCCCTCT
GAAATGTCCCTGGCATTCTTGCAGATTTAGGATTCCAAAATGTGACTTTTCAAGCTCTCCTGTCTCCAAT
GTAAGATAAGAAATGACCAAGCCCACCCCACGCCCTCGCAGGTGGGCACACGCATGGGCCGGGCACACCT
GGAGACCGCAGGCAGGCACATATGTGGGCCGGGCACCCCCAGAGACCGCAGGCGGGCACACGCGTGGGCC
AGGCACCCCTGGAGACCGCAGGCAGGCACACACATGGGCCGGGCACCCCCGGAGACCGCAGGTGGGCTGG
GGCCCCAGATCATGGCTTTAGGGATTGAGGTTGCTGCCTGGGGGCTGGGGAGGTGGGGTCCTGGCTATAA
TAGAATGTGAGTCCTGCAGGCCGTGTGGTCCCAGCCTGTCCTTCCACCTCTGCCCACCCAGGAAGGAAGG
CACAGTGGATCATGCAGGAAAAGAGTGAGACTCACCAGGGGCTGGCCGGTGCGCCTGGCTCCTATTGTCC
CTGCAGAGAAACACACTTGGGGTCACCAGGCCGACCCTGAGCCGTGCTCCTAGGTGGGGGGTCTTAGTCC
AGGGGCCTTCATCAGGGACTTAGCCTGGCGGGGAGATGGGGGGAGGTGGGGTGGGGTGAGGGAAGGGTGG
AGGAAGGGGAGGCGGGAGTGAGGGCCGCCAGCAGGGTTAGGGCAGGGCAGGCCGAGGGGCTGGGATGACG
TTACCTCGTGCGGCCCGGGAGCAGATGACGGCCAGGACCCAGACTAGCAGCACCAGGCTGCCCAGCAGGC
CGCCCACGACACCAACCACCAGGGTTTGGAACTGGCCGGCTGGCCTGGGTGAGGGGCTGGGGTGGGCTGT
GGGCACTTCTGCCCTTCTCTCTGGAAGGGCACAAAGGTCAGGGGTTAGGACGGGGTCAGGGTGGAGGGTC
AGGGTCAGGGGTGAGGGCAGACTAGAGGGGCTGGGGTGCTTCCAGAGCTAGAGGACAGAGATGCCGGTCA
CCATTCCCCAGGTGCAGGACAGAGCCCTGGACTGGAGCTGGGGGGTCCCTGCCCTACGACCCTGGAGCTC
CTGATCCTGTGCAGGAGGGGACACCCACCCCAGGACCGGCTCAGCTCACCCCTGCCCCGGGGCCTCCGAG
GCCGCACCTGTCACCCTGAGCTCTGCCCGCAGGCTCTCTTTGATCTGCGCCTTGGGGGCCAGGGAGATGG
CCCCACAGAGGTAGGTGCCGCTGTCATTGCGCCGGGCCCTGACCACGCTCATGTGGAAGTCACGCCCGTT
GGGCAGTTGTGTGACACGGAAGCGGCAGTCCTGGCCGGGCTGGCTGCGGTCCTCGGGGAAGGCGGCCAGC
TTGTCCGTCTGGTTGCTGGGGCTCATGCGGTACCAGTTTAGCACGAAGCTCTCCGATGTGTTGGAGAAGC
TGCAGGTGAAGGTGGCGTTGTCCCCTTCGGTCACCACGAGCAGGGCTGGGGAGAAGGTGGGGGGGTTCCA
GGGCCTGTCTGGGGAGTCTGAGAGATGGAGAGAGGTGAGGAAGGGGCTGGGTGGCCCCACAAAGCCTCCC
CGGCCACCTGCTCACATCCCTCGGGCAGCAAGGGCTCTGGAAGGGCCACCCCAGCTGGAATGTCATTGAG
AAGTCTCTGCTGGGGCCTCTGCCACCCGGGGATGGGCACTGGCCTCCACTGCAGAGCCTCTTCCTTCTAC
GTGAGGCTGCAGCTTCTGCACAGCACCTGGCTCTGACTTGGGTCTCCCTGATTTCCTACTAAGAGCCTTC
ACCCCCTTCCCCGTTGAGGCCAGTTCCCCCAGAAAGGGCTGTTTGGGGGCTACCCATCCCCAGCCCCTGA
CCCTTGGGCATCCTGGCCTGGTCCTGTCTGCACTGCTCTGGCACAGGGGAGTGTAACTGGTCTGGGTGGG
TGGGGGGCTGCCCATGGAGACCCCAGCCCTGGGAGGAGTGTGGCCCCTTGGCAGGCTCAGGGTCCAGTCT
TTGCCCCCTTTTCAGGACAAGCTCGGAGCTGGGACCACGTGGTATGGGCATTGCTGCCCTGGGCAGTGGG
CAGTGGGGCCTCCACATTTTCCAGCAAGACAGTGGGGACTAGAGCTCACAGCAAAGATGCTTCAGAGACG
AGATGGGCCATTGACTCGGATGTGGACAGACACGGGGCCCCCGACCCTGGGCTCCCAAGACAAGGACCTC
CTGAAACATATGCCTGCCAGGGTCAGGGCTTGGGATACCCGCATGGCAACGTGGGGGTCGCGGCTCTTCC
GCCAGGCGGAGGCACCAACACAGGCGCTTAAGATCCAGGCCCGAGATGCCATGCAACGGGGTGATTTTCC
CGGCTCACCCACAGGTCCCATGCCACAGGGTTCCCCAAACATGGCGCCAGCCCCACACTGTCAGACCCAG
TGCACTGTCACTCAGTTCCGTCTCAGGCCTGGGCACGGCCCCCCAGCGAGGTGACACAGAGACCAGGCCC
TGGTTGCCACAGCTGCGGTCCCTCTGCTTCCTGGGACAGGCGGCCTCCGTGGCAGGCGGTGGTGATGACT
CAAGGAGCAACCAGCTCAGAGGAGGAGGGGGCTGCTGCCCTCGTGTCCCTGCAGCCAGGCTGGCCCACGG
CGTGCTGGCTGGACACCAGAGGTGGGTGGGTCTGTCATGTGACCAGGACCAACTCCTAGTGCCAACCTCA
CTGGGCACCCTCCCAGGGGACGAGTGAGGGGTTTGAAGTGACCTTGAGGCCACCCAGGGTGTCCCTGTTC
CCTCTGTGCCCATGGCCTCCCGGCTGACAAGCGCTCGCCTCCTTCACCTGCGTGCCTGTCCCCCAGCTTC
CTGGTGGTGTTCCCAGAGGTGGCAGGGGCGAGGGCCAGCTACACAAGGGGCTGCTGAGGTGAGCCCCCTC
TCTGAGACCGCCCTTGTCTGCCGGCCGGCCAGGGGAAGCTCCCTGCATAGGCGTGTGCGGCGTGGGCCCG
GGGAATCTTCCAGCCACTCCAGAGTGGATTTTGACCAAGGAGGGCTGTGGGGTAGTGTGACTCTCAGGGC
CAGCAGGCAGCCAGGCCAGGGCACTCAGAGACCTGCCTGAATGGAGGAAGATGGGCTTCTGGCATCAGGG
CCAAGAGGGCTCCTGGGAGGCAGCCTGGGACAGGGTGGGCTGCAGCCCTTACTGGGCCTAGGCTGGGGCT
GGGTGGACTCGGCACAGAGCAGGGGAAATGCCCTGCCCTCTGGGTTTCTGGGAATGCAGTGGGGACCCAG
GGGCCCCACCACCGCAGGCAGCCCCTCGGGGTCTCCATCTCCCAGGCCAGGGCTGCCATGCAGCTGTCGG
GACAGACAGGCAGGTGAGGAACAGAAGTCATCACGGGTACTGTGAGCAGGGACCCTGCATGGCTAGGAAG
TGCTAAGGGACCCCCCAGCTGTAGGGCGAGGTGCTGGCGACAGGACAATGGCCGCTGTGTGTCCACACCG
CAATGTCCCTGGGACCATCTGTGCATTGTTCTTGTAACTGGAAACTTAGCTGCTATTTATTTGCACACAT
TGGTGGAGGGACCTGCTCCTGACTTGATCTGTGCTGGCGCTGACAGGCTCAACCCTTTTCCTGTCTGGCT
TGCACCAGCCCTCAGCCACTGGGCCTCAAGCCAGGACCCTGGGCTCCTGTTCCGCCCCCCCCAACCCCCC
TATTTTGGAATCCACCCCGGGGAGCAGGTCCAGCTGGGCCCCTCGGCCTCCCCTGCCTCCACCAACTGGC
TGGGTGGGGTGGGGGCTAGACCTCGGTGTCTGCAGTTCAAGCAGCCCCCTCTCCCACCTCCCCCAGCCAG
TCTCAGAGACTGGCTCCCACCCAGTGTGGGGGTGCTGGGTGGCGACCCCCACGCAGGGCCTGCCTCACCC
CAGTCCTCAGGCCACCTCCTCCAGGAAGGCTTCCTGGCCTCCCTTGGCTGGTAGTGTCTACTAGGAAGGT
GAATATTCAGAAGTGACCACTGGCTGGTCCTGGATCAAGTTAGATTTGGGGTGTTTCTATGGGATTCCAT
TGTTTCCCCAGGTGCTCCCTCTCGGATCCACGTAGGATCGTGGGTTGATGAGAGAGGGCTGTGCCCTATG
CAGGGTCAGGAGGGAGACAGAGCCCATCCCGGGGCTGTGGAACAGGCCTGTGAGGTGGCGGTGGGGGTGC
TCCCGCAGAGAGACCGCATTACAGGACATTGCTTTCCAGAAGCGCACAGAAGAAGGCTGCCTGCCCCGGG
CGGAGGAACCTGCTGGCCCAGACCAGACCCGGCATCTCTGACCGTGGTCCCATTAGGGACAAGGAAACCG
TCCCACGGGCTGTGCTGGGATGAGGACAGCGAGCTTGTCCCTAGAGGACCTGGCAGGGGTGAGGAGTGAG
GTCTTCCAACTCCTCACAGTCGTGTGTGTGTGTGGAGGTGGGAAGGGCTGTGGGCCGAACCGTGTCCCCA
CAGATTCCTATGTGGAAGTCCTAACCCCATGACCTCAGAAGGCGGCCTTATTAGGAATAGGGTGACGGCA
GCTGGGACTAGGTAAGATGAGGGCACAGGGCTGGGTGGCCATTGACCAGCAGGCCTGGCTTCCTGTACAG
AGTCACCCGTGCAGAGATGAAGGCAGAGCCTGGGGGATGCTTCTGAACCCAGGAACACAGAGGGTGGCCA
CAAAACCCCCCAGCCAGGAGAAGCTGAGCAGAGCCCTCTCGGAGCACAGGGAGCCGACCCTGTGGCCCCT
CGGTCCTGCATGTCCAGCCCCCCACGGCGGGAGGACAGGCTCTGTTTTTAAGCCACAGCCGGGAGAGGCT
GAGCAGAGCCCCTCAGAGCACAGGGGAGCCGACCCTGCGGAGCTCCATCCTGCACGTCCAGCCCTCAGTC
GGCGAGAGGGCAGGCTCTGTTTAAAAGCCACTCGGTCGGCGGAGCTTTGTCATGGCAGCTCCAGCCGCCC
AGTCCCCAAAGCAAATGTGTCAATATTCTTAGTTATTGATTCTAGGTGAGGGATATTCATTGTTTTTAAA
CGTTTTTGTATATTTTTCAAAATAGTCCGTTTAAAATCTGACTTCAAAAGTTTGACTTTAAAAATCAGAC
TTTAAAAATATGTGTCATGGAGGCCAGATGCAGTGGCTTATGCCTGTAATCCCAGTACTTGGGGAGGCTG
AGGTGGGAGGACCATTTGAGCCCAGCCTGGGGAACATAGCGAGACCCTGTCTCTAAAAAAAATGGAAGAA
ATTAGCCTGGCAGGGTGGCACGTGCCTATAGTCCCAGCTACTCTGGAGGCAGAGGTGGGAGAATTGCTTG
AGCCCCGGAGGTCGAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGT
CACTAAAAGAAACAAACAAAAAAGTGTCAGGGGCTGGGCTGGGTAGTTTTCACAGATGACCCGATTTAAT
CCTCAGGACGCAGCCTTGCCAGGAGGCGTCCTCACCCATGACCCAAAGCACACGGAGAAGTCAGTAAGGG
GCCAAGTCCTGTCGAAGGCCCAGAGCTCAGCAGTGGCAGCGCTGACTGGAGCTCACAGTGGTCCCACGCC
AAAGCAGAGGCTCTTATTTATGCTCCTGCCCTCGGACGGGGCCAATAAGCAGCCGGGTTGGGGATATCTC
ATAAAACACAAGGGAAGCACACACCTGAGGTGGGAGTGGTGGCCCCGGGAATGACCGAATGGCGAACGCA
GTGAATAGATCAGGAGGGAAAAGAGGCATCCTGGAATGAAGACCACTGCGGCCGGGGTGGCCACATCTGG
GTCAGGACCCACAGGACCCCAGTCATGCCCACTGCGCCTTGCTGAGTGCCCTGTGCTGTTACCAGTGGGG
AAACCGAGGCATGCCACCTGTGAGAGTCTTGTCCGGCACAAGCGCGGGCACCTGAGGCACGAGTGTCAGG
CTGCGGACACCTTGCTCTTATCTTTCCCGCCTGGGTCGGGGAGGGTGGCGTCCCGAGGGCGTGCCTGAAG
AGCCGGGACACGGGGGGAGAGGCTCGGCTCCCCTCCTGCCTCGCTCAGCTCCCCCTCCCCTGTGACGAGC
GCCCCTCTGCCCTCTGGTTCCCCCGCAGTCGTCTCCCTGGGATGCCTTTTGGCCCTTTGCTCTTTGCCTT
TTGCCCAGAATCTCCAGTTCTGAGTCCTGAGTGACCCACGGGCCAACCTTAAGAGGTGGCGCTGAGGCAG
GAAGGCACGGCCCTGACAAGGATGCTGCCTCAGGTGCCGGGGAGCAGGCCCCGGGAGAGGGGCCGAGGTG
GGGAACCCCCAGTCGCCTGCCACAGTGAAGGGGCACCAGGACCCCCGGGGCAGGAGCCTCGAGGGGGTGT
CAGGGCGGCCCCAGGGGTGCCCCTCATCTTGTCCTCCCAGTGGTGTCACACCCCGGTACCCAGCAGGGCC
CAGAGGGACTGTCTTAGGCTTGGCCTGGGTGAAACCACCCTCCCCAGGCCTTGGCATCCCCAGGTGCAGG
CTGGCTGGGCACAGAGGGCCAGCCGGGCACAGAGGGTCCAGGAGCGGGCTGTGGTCACAGTGTACACAGA
GGGCCCAGGGTCACGGGCAGCCCAGGAAGAGGCTCCCTCTCTCCTCGATCCGGGAGAGTGAGGCCAAGGC
CTCCCCCACGGATGGTCTGAACAGGGCTCGGGGAGAGCCCTGGAATCTGGGCAGAGACCCAGGCGGGCAC
AATCCCCACCCAGGAGGGATCCTGGAGACAGAAGAACTGTCCTCACTCGAACAGGTACACTTTGGATATA
ATGAGAAAAATATCACCAGCTCATCTAAACTTTGACGTCGTAAAGCCAAGGTTAGTCCCACATGGGGCTC
ATCCCATCCTTAGGAAAACTCGAGTGAGGACCAAGGATGCCTGGGCAAGGCAGAGCCGCCACGCAGACTC
CCCACGGCCAAGGTTTGGGGTTCTGGCCAGCCTGACCCGTCATTCTACAGAAACACGCAGCCCCAAGGAC
CGGCTGAGAGGGGACAGAGGTCCTGCCTGCCCAGGAGCAAAGAGGGGACTTGGGCCAGGGGAGGAGTTGG
GGCCCAGAGAGGAACCCAGGAGTTCGAGCTGCCCAAAGCCACACAGCTCAGGGTAAGGGGCAGAGCTGGG
GGCCAAGGCTGGGCCTGCCACAGCACCCCCCGACCTGCCAGGGACTGAGAGTGAAAGGTCCCTCCAGACC
CCTCGCTCCGGGACCCCTGGGCTGCCAGGGCCAGGCCCGCCTCAGCACCCCCCGACCTGCCAGGGACTGA
GGGTGGAAGGTCCCTCCAGACCCCTGGCTCTGGGACACCTGACCGCCGACCCCACCTACCTAAGAACCAT
CCTGGCCGCCAGCCCAGTTGTAGCACCGCCCAGACGACTGGCCAGGGCGCCTGTGGGATCTGCATGCCTG
GAGCAGCCCCACCAGAGTGCCGCCTTCTCCACTGCTCAGGCGGAGGTGAGC
|
| Protein Name |
PDCD1_HUMAN |
| Length |
288 |
| Moltype |
AA |
| Topology |
linear |
| Division |
PRI |
| Update Date |
12-OCT-2022 |
| Create Date |
01-NOV-1997 |
| Definition |
RecName: Full=Programmed cell death protein 1; Short=Protein PD-1; Short=hPD-1; AltName: CD_antigen=CD279; Flags: Precursor |
| Primary Accession |
Q15116 |
| Accession Version |
Q15116.3 |
| Other SeqIDs |
sp|Q15116.3|PDCD1_HUMAN,gi|145559515 |
| Organism |
Homo sapiens |
| Taxonomy |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo |
| Comment |
On or before Oct 6, 2012 this sequence version replaced gi:74759653, gi:13959699.; [FUNCTION] Inhibitory receptor on antigen activated T-cells that plays a critical role in induction and maintenance of immune tolerance to self (PubMed:21276005). Delivers inhibitory signals upon binding to ligands CD274/PDCD1L1 and CD273/PDCD1LG2 (PubMed:21276005). Following T-cell receptor (TCR) engagement, PDCD1 associates with CD3-TCR in the immunological synapse and directly inhibits T-cell activation (By similarity). Suppresses T-cell activation through the recruitment of PTPN11/SHP-2: following ligand-binding, PDCD1 is phosphorylated within the ITSM motif, leading to the recruitment of the protein tyrosine phosphatase PTPN11/SHP-2 that mediates dephosphorylation of key TCR proximal signaling molecules, such as ZAP70, PRKCQ/PKCtheta and CD247/CD3zeta (By similarity). {ECO:0000250|UniProtKB:Q02242, ECO:0000269|PubMed:21276005}.; [FUNCTION] The PDCD1-mediated inhibitory pathway is exploited by tumors to attenuate anti-tumor immunity and escape destruction by the immune system, thereby facilitating tumor survival (PubMed:28951311). The interaction with CD274/PDCD1L1 inhibits cytotoxic T lymphocytes (CTLs) effector function (PubMed:28951311). The blockage of the PDCD1-mediated pathway results in the reversal of the exhausted T-cell phenotype and the normalization of the anti-tumor response, providing a rationale for cancer immunotherapy (PubMed:22658127, PubMed:25034862, PubMed:25399552). {ECO:0000269|PubMed:22658127, ECO:0000269|PubMed:25034862, ECO:0000269|PubMed:25399552, ECO:0000303|PubMed:28951311}.; ACTIVITY REGULATION: Inhibited by pembrolizumab (also named MK-3475 or lambrolizumab), a monoclonal antibody that prevents the interaction with CD274/PDCD1L1 (PubMed:27734966, PubMed:27325296). Inhibited by nivolumab (also named ONO-4538, BMS-936558 or Opdivo), a monoclonal antibody that prevents the interaction with CD274/PDCD1L1 (PubMed:28165004). The interaction with nivolumab is not dependent on glycosylation and depends on a loop at the N-terminus (N-terminal loop, corresponding to residues 25-34) (PubMed:28165004). Targeting the interaction between PDCD1 and CD274/PDCD1L1 with pembrolizumab and nivolumab antibodies has demonstrated great promise as a strategy for controlling and eradicating cancer (PubMed:22658127, PubMed:25034862, PubMed:25399552). Pembrolizumab and nivolumab are used for treatment of patients with advanced melanoma (PubMed:25034862, PubMed:25399552). These antibodies are also effective against other cancers, such as non-small cell lung cancer, renal cell carcinoma, bladder cancer and Hodgkin's lymphoma (PubMed:25034862). {ECO:0000269|PubMed:22658127, ECO:0000269|PubMed:25034862, ECO:0000269|PubMed:25399552, ECO:0000269|PubMed:27325296, ECO:0000269|PubMed:27734966, ECO:0000269|PubMed:28165004}.; [SUBUNIT] Monomer (PubMed:26602187). Interacts with CD274/PDCD1L1 (PubMed:26602187). Interacts with CD273/PDCD1LG2 (By similarity). Interacts with FBXO38; leading to ubiquitination and degradation of PDCD1 by the proteasome (PubMed:30487606). {ECO:0000250|UniProtKB:Q02242, ECO:0000269|PubMed:26602187, ECO:0000269|PubMed:30487606}.; [INTERACTION] Q15116; Q9NZQ7: CD274; NbExp=17; IntAct=EBI-4314328, EBI-4314282; Q15116; Q9NZQ7-1: CD274; NbExp=2; IntAct=EBI-4314328, EBI-15686469; Q15116; Q9BQ51: PDCD1LG2; NbExp=14; IntAct=EBI-4314328, EBI-16427978; Q15116; Q06124: PTPN11; NbExp=3; IntAct=EBI-4314328, EBI-297779.; [SUBCELLULAR LOCATION] Cell membrane {ECO:0000269|PubMed:30487606}; Single-pass type I membrane protein.; [DEVELOPMENTAL STAGE] Induced at programmed cell death. {ECO:0000269|PubMed:7851902}.; [PTM] Ubiquitinated at Lys-233 by the SCF(FBXO38) complex, leading to its proteasomal degradation (PubMed:30487606). Ubiquitinated via 'Lys-48'-linked polyubiquitin chains (PubMed:30487606). {ECO:0000269|PubMed:30487606}.; [PTM] Tyrosine phosphorylated at Tyr-223 (within ITIM motif) and Tyr-248 (ITSM motif) upon ligand binding. Phosphorylation at Tyr-248 promotes the recruitment of the protein tyrosine phosphatase PTPN11/SHP-2 that mediates dephosphorylation of key TCR proximal signaling molecules, such as ZAP70, PRKCQ/PKCtheta and CD247/CD3zeta. {ECO:0000250|UniProtKB:Q02242}.; [PTM] N-glycosylation at Asn-58 contains at least two N-acetylglucosamine units and one fucose (PubMed:28165004). N-glycosylation does not affect binding to nivolumab drug (PubMed:28165004). {ECO:0000269|PubMed:28165004}.; [DISEASE] Systemic lupus erythematosus 2 (SLEB2) [MIM:605218]: A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. {ECO:0000269|PubMed:12402038}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. |
| Source Db |
UniProtKB: locus PDCD1_HUMAN, accession Q15116;; class: standard.; extra accessions:O00517,Q8IX89; created: Nov 1, 1997.; sequence updated: Apr 17, 2007.; annotation updated: Oct 12, 2022.; xrefs: L27440.1, AAC41700.1, U64863.1, AAC51773.1, AF363458.1, AAN64003.1, AY238517.1, AAO63583.1, EF064716.1, ABK41899.1, AK313848.1, BAG36577.1, CH471063.1, EAW71298.1, BC074740.2, AAH74740.1, A55737, NP_005009.2, 2M2D_A, 3RRQ_A, 4ZQK_B, 5B8C_C, 5B8C_F, 5B8C_I, 5B8C_L, 5GGR_Y, 5GGR_Z, 5GGS_Y, 5GGS_Z, 5IUS_A, 5IUS_B, 5JXE_A, 5JXE_B, 5WT9_G, 6HIG_B, 6J14_G, 6J15_C, 6J15_D, 6JBT_F, 6JJP_C, 6JJP_F, 6K0Y_C, 6R5G_B, 6ROY_C, 6ROY_D, 6ROZ_B, 6ROZ_D, 6UMT_A, 6UMU_A, 6UMV_A, 6XKR_P, 7BXA_A, 7BXA_P, 7CGW_C, 7CGW_P, 7CU5_E, 7CU5_Q, 7E9B_C, 7VUX_A; xrefs (non-sequence databases): CCDS:CCDS33428.1, PDBsum:2M2D, PDBsum:3RRQ, PDBsum:4ZQK, PDBsum:5B8C, PDBsum:5GGR, PDBsum:5GGS, PDBsum:5IUS, PDBsum:5JXE, PDBsum:5WT9, PDBsum:6HIG, PDBsum:6J14, PDBsum:6J15, PDBsum:6JBT, PDBsum:6JJP, PDBsum:6K0Y, PDBsum:6R5G, PDBsum:6ROY, PDBsum:6ROZ, PDBsum:6UMT, PDBsum:6UMU, PDBsum:6UMV, PDBsum:6XKR, PDBsum:7BXA, PDBsum:7CGW, PDBsum:7CU5, PDBsum:7E9B, PDBsum:7VUX, AlphaFoldDB:Q15116, BMRB:Q15116, SMR:Q15116, BioGRID:111160, DIP:DIP-44126N, IntAct:Q15116, MINT:Q15116, STRING:9606.ENSP00000335062, BindingDB:Q15116, ChEMBL:CHEMBL3307223, DrugBank:DB15767, DrugBank:DB14776, DrugBank:DB14707, DrugBank:DB05916, DrugBank:DB15627, DrugBank:DB15768, DrugBank:DB09035, DrugBank:DB09037, DrugBank:DB16740, DrugBank:DB15766, DrugBank:DB15765, DrugBank:DB14892, DrugBank:DB14922, DrugBank:DB15043, DrugCentral:Q15116, GuidetoPHARMACOLOGY:2760, TCDB:8.A.17.4.1, GlyGen:Q15116, iPTMnet:Q15116, PhosphoSitePlus:Q15116, BioMuta:PDCD1, DMDM:145559515, MassIVE:Q15116, PaxDb:Q15116, PeptideAtlas:Q15116, PRIDE:Q15116, ProteomicsDB:60443, ABCD:Q15116, Antibodypedia:20331, CPTC:Q15116, DNASU:5133, Ensembl:ENST00000334409.10, Ensembl:ENSP00000335062.5, Ensembl:ENSG00000188389.11, Ensembl:ENST00000618185.3, Ensembl:ENSP00000480684.1, Ensembl:ENSG00000276977.3, GeneID:5133, KEGG:hsa:5133, MANE-Select:ENST00000334409.10, UCSC:uc002wcq.5, CTD:5133, DisGeNET:5133, GeneCards:PDCD1, HGNC:8760, HPA:ENSG00000188389, MalaCards:PDCD1, MIM:600244, MIM:605218, neXtProt:NX_Q15116, OpenTargets:ENSG00000188389, Orphanet:802, Orphanet:536, PharmGKB:PA33110, VEuPathDB:HostDB:ENSG00000188389, eggNOG:ENOG502SUIW, GeneTree:ENSGT00390000013662, HOGENOM:CLU_1075828_0_0_1, InParanoid:Q15116, OMA:HTEYATI, OrthoDB:1437063at2759, PhylomeDB:Q15116, TreeFam:TF336181, PathwayCommons:Q15116, Reactome:R-HSA-389948, Reactome:R-HSA-9679191, SignaLink:Q15116, SIGNOR:Q15116, BioGRID-ORCS:5133, ChiTaRS:PDCD1, GeneWiki:Programmed_cell_death_1, GenomeRNAi:5133, Pharos:Q15116, PRO:PR:Q15116, Proteomes:UP000005640, RNAct:Q15116, Bgee:ENSG00000188389, ExpressionAtlas:Q15116, Genevisible:Q15116, GO:0009897, GO:0016021, GO:0005886, GO:0002250, GO:0006915, GO:0001783, GO:0006959, GO:0002903, GO:0050777, GO:0002644, GO:0070234, GO:0050776, GO:1902482, Gene3D:2.60.40.10, InterPro:IPR007110, InterPro:IPR036179, InterPro:IPR013783, InterPro:IPR003599, InterPro:IPR013106, InterPro:IPR042379, PANTHER:PTHR15264, Pfam:PF07686, SMART:SM00409, SMART:SM00406, SUPFAM:SSF48726, PROSITE:PS50835 |
| Sequence |
mqipqapwpvvwavlqlgwrpgwfldspdrpwnpptfspallvvtegdnatftcsfsntsesfvlnwyrmspsnqtdklaafpedrsqpgqdcrfrvtqlpngrdfhmsvvrarrndsgtylcgaislapkaqikeslraelrvterraevptahpspsprpagqfqtlvvgvvggllgslvllvwvlavicsraargtigarrtgqplkedpsavpvfsvdygeldfqwrektpeppvpcvpeqteyativfpsgmgtssparrgsadgprsaqplrpedghcswpl |
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