Homo sapiens Protein: PTPN22
Summary
InnateDB Protein IDBP-597360.3
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 ENSP00000433141
InnateDB Gene IDBG-101222 (PTPN22)
Protein Structure
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.
Experimentally validated
Total 24 [view]
Protein-Protein 24 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004725 protein tyrosine phosphatase activity
GO:0005515 protein binding
GO:0017124 SH3 domain binding
GO:0019900 kinase binding
Biological Process
GO:0006470 protein dephosphorylation
GO:0030217 T cell differentiation
GO:0032817 regulation of natural killer cell proliferation
GO:0035335 peptidyl-tyrosine dephosphorylation
GO:0035644 phosphoanandamide dephosphorylation
GO:0045088 regulation of innate immune response
GO:0050855 regulation of B cell receptor signaling pathway
GO:0050860 negative regulation of T cell receptor signaling pathway
GO:0050868 negative regulation of T cell activation
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0009898 cytoplasmic side of plasma membrane
GO:0048471 perinuclear region of cytoplasm
Protein Structure and Domains
PDB ID
InterPro IPR000242 Protein-tyrosine phosphatase, receptor/non-receptor type
IPR029021 Protein-tyrosine phosphatase-like
PFAM PF00102
PRINTS PR00700
PIRSF
SMART SM00194
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9Y2R2
PhosphoSite PhosphoSite-Q9Y2R2
TrEMBL
UniProt Splice Variant
Entrez Gene 26191
UniGene Hs.535276
RefSeq
HUGO HGNC:9652
OMIM 600716
CCDS
HPRD 06100
IMGT
EMBL AF001846 AF001847 AF077031 AK310570 AL137856 BC017785 BC071670 CH471122 EF064714 GU479452
GenPept AAD00904 AAD00905 AAD27764 AAH17785 AAH71670 ABK41897 ADD59979 CAI19068 EAW56575 EAW56576