Homo sapiens Protein: PTPN22 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-101226.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | PTPN22 | ||||||||||||||||||
Protein Name | protein tyrosine phosphatase, non-receptor type 22 (lymphoid) | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000352833 | ||||||||||||||||||
InnateDB Gene | IDBG-101222 (PTPN22) | ||||||||||||||||||
Protein Structure |
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UniProt Annotation | |||||||||||||||||||
Function | Acts as negative regulator of T-cell receptor (TCR) signaling by direct dephosphorylation of the Src family kinases LCK and FYN, ITAMs of the TCRz/CD3 complex, as well as ZAP70, VAV, VCP and other key signaling molecules. Associates with and probably dephosphorylates CBL. Dephosphorylates LCK at its activating 'Tyr-394' residue. Dephosphorylates ZAP70 at its activating 'Tyr-493' residue. Dephosphorylates the immune system activator SKAP2. {ECO:0000269PubMed:16461343, ECO:0000269PubMed:18056643, ECO:0000269PubMed:19167335, ECO:0000269PubMed:21719704}. | ||||||||||||||||||
Subcellular Localization | Cytoplasm {ECO:0000250}. | ||||||||||||||||||
Disease Associations | Systemic lupus erythematosus (SLE) [MIM:152700]: 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:0000269PubMed:15273934}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | Both isoform 1 and 4 are predominantly expressed in lymphoid tissues and cells. Isoform 1 is expressed in thymocytes and both mature B and T-cells. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 24 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR000242
Protein-tyrosine phosphatase, receptor/non-receptor type IPR000387 Protein-tyrosine/Dual specificity phosphatase IPR003595 Protein-tyrosine phosphatase, catalytic IPR016276 Non-receptor tyrosine-protein phosphatase, 8/22 IPR029021 Protein-tyrosine phosphatase-like |
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PFAM |
PF00102
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PRINTS |
PR00700
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PIRSF |
PIRSF000930
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SMART |
SM00194
SM00404 |
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | |||||||||||||||||||
PhosphoSite | PhosphoSite-Q9Y2R2 | ||||||||||||||||||
TrEMBL | F5H2S8 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 26191 | ||||||||||||||||||
UniGene | Hs.535276 | ||||||||||||||||||
RefSeq | NP_057051 | ||||||||||||||||||
HUGO | HGNC:9652 | ||||||||||||||||||
OMIM | 600716 | ||||||||||||||||||
CCDS | CCDS863 | ||||||||||||||||||
HPRD | 06100 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AL137856 | ||||||||||||||||||
GenPept | |||||||||||||||||||