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MGP002532

UniProt Annotations

Entry Information
Gene Nameprotein tyrosine phosphatase, receptor type, C
Protein EntryPTPRC_HUMAN
UniProt IDP08575
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Comment=At least 8 isoforms are produced.; Name=1; IsoId=P08575-1; Sequence=Displayed; Name=2; IsoId=P08575-2; Sequence=VSP_007780;
Catalytic ActivityProtein tyrosine phosphate + H(2)O = protein tyrosine + phosphate. {ECO:0000255|PROSITE-ProRule:PRU10044}.
DiseaseMultiple sclerosis (MS) [MIM:126200]: A multifactorial, inflammatory, demyelinating disease of the central nervous system. Sclerotic lesions are characterized by perivascular infiltration of monocytes and lymphocytes and appear as indurated areas in pathologic specimens (sclerosis in plaques). The pathological mechanism is regarded as an autoimmune attack of the myelin sheath, mediated by both cellular and humoral immunity. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia and bladder dysfunction. Genetic and environmental factors influence susceptibility to the disease. {ECO:0000269|PubMed:11101853}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.
DiseaseSevere combined immunodeficiency autosomal recessive T- cell-negative/B-cell-positive/NK-cell-positive (T(-)B(+)NK(+) SCID) [MIM:608971]: A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. {ECO:0000269|PubMed:11145714}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainThe first PTPase domain interacts with SKAP1.
FunctionProtein tyrosine-protein phosphatase required for T-cell activation through the antigen receptor. Acts as a positive regulator of T-cell coactivation upon binding to DPP4. The first PTPase domain has enzymatic activity, while the second one seems to affect the substrate specificity of the first one. Upon T-cell activation, recruits and dephosphorylates SKAP1 and FYN. Dephosphorylates LYN, and thereby modulates LYN activity (By similarity). {ECO:0000250}.
InteractionP41240:CSK; NbExp=3; IntAct=EBI-1341, EBI-1380630; P35222:CTNNB1; NbExp=2; IntAct=EBI-1341, EBI-491549; P04626:ERBB2; NbExp=2; IntAct=EBI-1341, EBI-641062; P20701:ITGAL; NbExp=2; IntAct=EBI-1341, EBI-961214; P06239:LCK; NbExp=7; IntAct=EBI-1341, EBI-1348; P06240:Lck (xeno); NbExp=2; IntAct=EBI-1341, EBI-1401; P09382:LGALS1; NbExp=2; IntAct=EBI-1341, EBI-1048875; Q02763:TEK; NbExp=3; IntAct=EBI-1341, EBI-2257090;
PtmHeavily N- and O-glycosylated. {ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:19349973}.
SimilarityBelongs to the protein-tyrosine phosphatase family. Receptor class 1/6 subfamily. {ECO:0000305}.
SimilarityContains 2 fibronectin type-III domains. {ECO:0000255|PROSITE-ProRule:PRU00316}.
SimilarityContains 2 tyrosine-protein phosphatase domains. {ECO:0000255|PROSITE-ProRule:PRU00160}.
Subcellular LocationMembrane {ECO:0000269|PubMed:12676959}; Single-pass type I membrane protein {ECO:0000269|PubMed:12676959}. Membrane raft {ECO:0000269|PubMed:12676959}. Note=Colocalized with DPP4 in membrane rafts.
SubunitBinds GANAB and PRKCSH (By similarity). Interacts with SKAP1. Interacts with DPP4; the interaction is enhanced in a interleukin-12-dependent manner in activated lymphocytes. {ECO:0000250, ECO:0000269|PubMed:11909961, ECO:0000269|PubMed:12676959, ECO:0000269|PubMed:15684325}.
Web ResourceName=PTPRCbase; Note=PTPRC mutation db; URL="http://structure.bmc.lu.se/idbase/PTPRCbase/";
Web ResourceName=Wikipedia; Note=CD45 entry; URL="http://en.wikipedia.org/wiki/CD45";
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