Human Gene PTPRC (ENST00000442510.8) from GENCODE V39
Description: Homo sapiens protein tyrosine phosphatase receptor type C (PTPRC), transcript variant 1, mRNA. (from RefSeq NM_002838) RefSeq Summary (NM_002838): The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitosis, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus is classified as a receptor type PTP. This PTP has been shown to be an essential regulator of T- and B-cell antigen receptor signaling. It functions through either direct interaction with components of the antigen receptor complexes, or by activating various Src family kinases required for the antigen receptor signaling. This PTP also suppresses JAK kinases, and thus functions as a regulator of cytokine receptor signaling. Alternatively spliced transcripts variants of this gene, which encode distinct isoforms, have been reported. [provided by RefSeq, Jun 2012]. Gencode Transcript: ENST00000442510.8 Gencode Gene: ENSG00000081237.20 Transcript (Including UTRs) Position: hg38 chr1:198,639,040-198,757,476 Size: 118,437 Total Exon Count: 33 Strand: + Coding Region Position: hg38 chr1:198,639,269-198,756,181 Size: 116,913 Coding Exon Count: 32
ID:PTPRC_HUMAN DESCRIPTION: RecName: Full=Receptor-type tyrosine-protein phosphatase C; EC=126.96.36.199; AltName: Full=Leukocyte common antigen; Short=L-CA; AltName: Full=T200; AltName: CD_antigen=CD45; Flags: Precursor; FUNCTION: Protein 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). CATALYTIC ACTIVITY: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate. SUBUNIT: Binds GANAB and PRKCSH (By similarity). Interacts with SKAP1. Interacts with DPP4; the interaction is enhanced in a interleukin-12-dependent manner in activated lymphocytes. INTERACTION: P04626:ERBB2; NbExp=2; IntAct=EBI-1341, EBI-641062; P06239:LCK; NbExp=2; IntAct=EBI-1341, EBI-1348; P06240:Lck (xeno); NbExp=2; IntAct=EBI-1341, EBI-1401; Q02763:TEK; NbExp=3; IntAct=EBI-1341, EBI-2257090; SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. Membrane raft. Note=Colocalized with DPP4 in membrane rafts. DOMAIN: The first PTPase domain interacts with SKAP1. PTM: Heavily N- and O-glycosylated. DISEASE: Defects in PTPRC are a cause of severe 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. DISEASE: Genetic variations in PTPRC are involved in multiple sclerosis susceptibility (MS) [MIM:126200]. MS is a neurodegenerative disorder characterized by the gradual accumulation of focal plaques of demyelination particularly in the periventricular areas of the brain. Peripheral nerves are not affected. Onset usually in third or fourth decade with intermittent progression over an extended period. The cause is still uncertain. SIMILARITY: Belongs to the protein-tyrosine phosphatase family. Receptor class 1/6 subfamily. SIMILARITY: Contains 2 fibronectin type-III domains. SIMILARITY: Contains 2 tyrosine-protein phosphatase domains. WEB RESOURCE: Name=PTPRCbase; Note=PTPRC mutation db; URL="http://bioinf.uta.fi/PTPRCbase/"; WEB RESOURCE: Name=Wikipedia; Note=CD45 entry; URL="http://en.wikipedia.org/wiki/CD45";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P08575
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Y00062 - Human mRNA for T200 leukocyte common antigen (CD45, LC-A). AK308217 - Homo sapiens cDNA, FLJ98165. AK307635 - Homo sapiens cDNA, FLJ97583. AK299986 - Homo sapiens cDNA FLJ53186 partial cds, highly similar to Leukocyte common antigen precursor (EC 188.8.131.52). AK303539 - Homo sapiens cDNA FLJ61519 complete cds, highly similar to Leukocyte common antigen precursor (EC 184.108.40.206). AK292131 - Homo sapiens cDNA FLJ76921 complete cds, highly similar to Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 2, mRNA. Y00638 - Human mRNA for leukocyte common antigen (T200). BC014239 - Homo sapiens protein tyrosine phosphatase, receptor type, C, mRNA (cDNA clone IMAGE:4565766), partial cds. AB527417 - Synthetic construct DNA, clone: pF1KB4741, Homo sapiens PTPRC gene for protein tyrosine phosphatase, receptor type, C, without stop codon, in Flexi system. BC169206 - Synthetic construct Homo sapiens clone IMAGE:9093267 protein tyrosine phosphatase, receptor type, C isoform 1 precursor (PTPRC) gene, partial cds. AX069420 - Sequence 84 from Patent WO0102600. AX229789 - Sequence 22 from Patent WO0162968. AK310898 - Homo sapiens cDNA, FLJ17940. AK130573 - Homo sapiens cDNA FLJ27063 fis, clone SPL01079. BC017863 - Homo sapiens protein tyrosine phosphatase, receptor type, C, mRNA (cDNA clone IMAGE:4695712), complete cds. BC031525 - Homo sapiens protein tyrosine phosphatase, receptor type, C, mRNA (cDNA clone IMAGE:4385226), with apparent retained intron. BC121086 - Homo sapiens protein tyrosine phosphatase, receptor type, C, mRNA (cDNA clone IMAGE:40119796), complete cds. BC121087 - Homo sapiens protein tyrosine phosphatase, receptor type, C, mRNA (cDNA clone IMAGE:40119797), complete cds. BC127656 - Homo sapiens protein tyrosine phosphatase, receptor type, C, mRNA (cDNA clone IMAGE:40119799), complete cds. BC127657 - Homo sapiens protein tyrosine phosphatase, receptor type, C, mRNA (cDNA clone IMAGE:40119800), complete cds. BC148257 - Homo sapiens protein tyrosine phosphatase, receptor type, C, mRNA (cDNA clone IMAGE:40119801), complete cds. AY567999 - Homo sapiens CD45 transcript variant (PTPRC) mRNA, partial cds, alternatively spliced. AY429565 - Homo sapiens PTPRCv_1 mRNA sequence; alternatively spliced. AY429566 - Homo sapiens PTPRCv_2 mRNA sequence; alternatively spliced. BC169207 - Synthetic construct Homo sapiens clone IMAGE:9093268 protein tyrosine phosphatase, receptor type, C isoform 1 precursor (PTPRC) gene, partial cds. JD224202 - Sequence 205226 from Patent EP1572962. JD223966 - Sequence 204990 from Patent EP1572962. JD441086 - Sequence 422110 from Patent EP1572962. JD348748 - Sequence 329772 from Patent EP1572962. JD306074 - Sequence 287098 from Patent EP1572962. JD554270 - Sequence 535294 from Patent EP1572962. JD531166 - Sequence 512190 from Patent EP1572962. JD304708 - Sequence 285732 from Patent EP1572962. JD508893 - Sequence 489917 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04514 - Cell adhesion molecules (CAMs) hsa04660 - T cell receptor signaling pathway hsa04666 - Fc gamma R-mediated phagocytosis hsa05340 - Primary immunodeficiency
BioCarta from NCI Cancer Genome Anatomy Project h_tcraPathway - Lck and Fyn tyrosine kinases in initiation of TCR Activation h_thelperPathway - T Helper Cell Surface Molecules h_CSKPathway - Activation of Csk by cAMP-dependent Protein Kinase Inhibits Signaling through the T Cell Receptor h_blymphocytePathway - B Lymphocyte Cell Surface Molecules h_tcytotoxicPathway - T Cytotoxic Cell Surface Molecules