Description: Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA. 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]. Transcript (Including UTRs) Position: hg19 chr1:198,608,418-198,672,501 Size: 64,084 Total Exon Count: 4 Strand: +
abnormal splicing Tchilian EZ et al. 2002, A CD45 polymorphism associated with abnormal splicing is absent in African populations., Immunogenetics. 2002 Feb;53(11-Oct):980-3.
[PubMed 11862398]
We further show that populations living in the Pamir mountains of Central Asia have a very high prevalence of the C77G variant.
HTLV-1 associated myelopathy/tropical spastic; paraparesis Sabouri, A. H. et al. 2003, A C77G point mutation in CD45 exon 4, which is associated with the development of multiple sclerosis and increased susceptibility to HIV-1 infection, is undetectable in Japanese population., European journal of neurology. 2003 Nov;10(6):737-9.
[PubMed 14641523]
All 272 subjects showed homozygosity in the CD45 exon 4, suggesting that this mutation is absent or very rare in Japanese population.
HTLV-1 associated myelopathy/tropical spastic; paraparesis Tchilian, E. Z. et al. 2002, A CD45 polymorphism associated with abnormal splicing is absent in African populations., Immunogenetics. 2002 Feb;53(11-Oct):980-3.
[PubMed 11862398]
We further show that populations living in the Pamir mountains of Central Asia have a very high prevalence of the C77G variant.
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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.
Mouse
Rat
Zebrafish
D. melanogaster
C. elegans
S. cerevisiae
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
Descriptions from all associated GenBank mRNAs
Y00062 - Human mRNA for T200 leukocyte common antigen (CD45, LC-A). AK303539 - Homo sapiens cDNA FLJ61519 complete cds, highly similar to Leukocyte common antigen precursor (EC 3.1.3.48). 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). AB527417 - Synthetic construct DNA, clone: pF1KB4741, Homo sapiens PTPRC gene for protein tyrosine phosphatase, receptor type, C, without stop codon, in Flexi system. AK308217 - Homo sapiens cDNA, FLJ98165. AK310898 - Homo sapiens cDNA, FLJ17940. AK307635 - Homo sapiens cDNA, FLJ97583. AK130573 - Homo sapiens cDNA FLJ27063 fis, clone SPL01079. AK299986 - Homo sapiens cDNA FLJ53186 partial cds, highly similar to Leukocyte common antigen precursor (EC 3.1.3.48). 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. BC014239 - Homo sapiens protein tyrosine phosphatase, receptor type, C, mRNA (cDNA clone IMAGE:4565766), partial cds. 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. BC169206 - Synthetic construct Homo sapiens clone IMAGE:9093267 protein tyrosine phosphatase, receptor type, C isoform 1 precursor (PTPRC) gene, partial cds. AY429565 - Homo sapiens PTPRCv_1 mRNA sequence; alternatively spliced. AY429566 - Homo sapiens PTPRCv_2 mRNA sequence; alternatively spliced.
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
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