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FLASH GENE
Symbol PTPRC contributors: mct - updated : 12-01-2016
HGNC name protein tyrosine phosphatase, receptor type, C
HGNC id 9666
Corresponding disease
SCIDNK Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive
Location 1q31.3      Physical location : 198.608.136 - 198.726.545
Synonym name
  • cell differentiation antigen CD45,leukocyte common antigen/T200, identified by monoclonal antibodies T29/33, BMAC1, F10-89-4
  • receptor-type tyrosine-protein phosphatase C
  • CD45 antigen
  • T200 glycoprotein
  • leukocyte common antigen
  • T200 leukocyte common antigen
  • Synonym symbol(s) CD45, LCA, T200, GP180, LY5, B220, CD45R
    EC.number 3.1.3.48
    DNA
    TYPE functioning gene
    STRUCTURE 118.41 kb     33 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    alternative promoter
    text structure
  • functionnal promoter within the first intron
  • exon A involved in alternative splicing associated with changes in T ell maturation
  • MAPPING cloned Y linked Y status confirmed
    Physical map
    SLICK 1q31.2 sodium- and chloride-activated ATP-sensitive potassium channel HF1 1q32 H factor 1 (complement) FHR-3 1q32 complement factor H related 3 HFL1 1q32 H factor (complement)-like 1 FHR-4 1q32 complement factor H-related 4 HFL3 1q32 H factor (complement)-like 3 FHR5 1q22-q23 H factor (complement)-like 3 F13B 1q31 coagulation factor XIII, B polypeptide ASPM 1q31 asp (abnormal spindle)-like, microcephaly associated (Drosophila) FRBZ1 1q31.3 FRBZ1 protein LOC127011 1q31.3 similar to ATPase, H+ transporting, lysosomal accessory protein 2; ATPase, H+ transporting, lysosomal (vacuolar proton pump) membrane sector associated protein M8-9; vacuolar ATP synthase membrane sector associated protein M8-9; V-A CRB1 1q31-q32.1 crumbs homolog 1 (Drosophila) MRPS21P3 1q31.2 mitochondrial ribosomal protein S21 pseudogene 3 FLJ20054 1q31.3 hypothetical protein FLJ20054 MGC27044 LOC388722 1 similar to Hypothetical protein CBG13135 LHX9 1q31-q32 LIM homeobox 9 NEK7 1q31.3 NIMA (never in mitosis gene a)-related kinase 7 ATP6V1G3 1q32.2 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 3 PTPRC 1q31-q32.1 protein tyrosine phosphatase, receptor type, C LOC391147 1 similar to 40S ribosomal protein S2 LOC391148 1 similar to Elongation factor 1-alpha 1 (EF-1-alpha-1) (Elongation factor 1 A-1) (eEF1A-1) (Elongation factor Tu) (EF-Tu) LOC391149 1 similar to 14.5 kDa translational inhibitor protein (p14.5) (UK114 antigen homolog) NR5A2 1q32.11 nuclear receptor subfamily 5, group A, member 2 LOC339521 1q31.3 similar to RIKEN cDNA 1810009O10 LOC391150 1 similar to Cofilin, non-muscle isoform LOC388723 1 hypothetical gene supported by BC040731 ZNF281 1q32.1 zinc finger protein 281 KIF14 1pter-q31.3 kinesin family member 14 DKFZP564B1023 1q31.3 hypothetical protein DKFZp564B1023 KIAA1078 1q32.1 KIAA1078 protein GPR25 1q32.1 G protein-coupled receptor 25 FLJ10901 1q32.1 hypothetical protein FLJ10901
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    33 splicing 5330 147.7 1304 - 2000 11101853
  • precursor
  • isoform 1
  • 30 splicing 4847 - 1143 - 2000 11101853
  • lacking a 161 AA internal fragment
  • precursor
  • isoform 2
  • 3 splicing 1107 - 34 - 2000 11101853
    isoform 4
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Lymphoid/Immunelymph node   highly
     spleen   highly
     thymus   highly
    Nervousbrain    
    Respiratorylung    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    cell lineage nucleated lineage of hematopoietic cells
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • variable N terminal region
  • a cysteine-rich region
  • a single transmembrane-spanning region
  • a large cytoplasmic domain conserved between species
  • two fibronectin type 3 domain
  • two protein tyrosine phosphatase domains
  • conjugated GlycoP , PhosphoP
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Ptprc
    intraspecies homolog to LY5
    Homologene
    FAMILY
  • protein tyrosine phosphatase family
  • CATEGORY antigen , receptor membrane serine/threonine tyrosine kinase
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    basic FUNCTION
  • key regulator of Src kinases required for T an B cells antigen receptor signal transduction
  • JAK phosphatase, negative regulator of cytokine receptor signaling
  • essential for normal T-lymphocyte function, maturation and differentation
  • inhibiting PLD2
  • negatively regulates JAK family kinases downstream of cytokine receptors
  • tumor suppressor role for CD45 in T-cell acute lymphoblastic leukemia
  • is a receptor-like tyrosine phosphatase that positively regulates BCR signaling by dephosphorylating the inhibitory tyrosine of the Src family kinases
  • PTPRC and PTPRJ are transmembrane tyrosine phosphatases with large ectodomains that have activatory and inhibitory effects on TCR triggering
  • PTPRC-mediated T cell function as potentially critical for infection and viral spread to the brain, and also for subsequent Herpes simplex encephalitis (HSE) development
  • leukocyte-specific tyrosine phosphatase, that severely impacts T cell development and activation by modulating TCR signaling
  • novel role for PTPRC on innate immune cells in promoting lymphopenia-induced T cell proliferation, suggesting that innate immune cells may communicate with stromal cells to regulate IL7 production
  • T cell receptor (TCR) phosphorylation requires the kinase LCK and phosphatase PTPRC
  • phosphatase PTPRC both positively and negatively regulates T cell receptor phosphorylation in reconstituted membrane protein clusters
  • positively regulates chemoattractant signaling acting on Src family kinases (SFKs) activity
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • isoform 4 forms homodimer, resulting in decreased signaling via the T cell receptor
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • HNRNPLL is a critical inducible regulator of PTPRC alternative splicing
  • functions to regulate PTK2/FAK activity, likely through the activity of Src family kinases, which in turn regulates the levels of paxillin to modulate macrophage adhesion and migration
  • spatial regulation of LCK by PTPRC and GM1 ganglioside determines the outcome of apoptotic response to LGALS1 and this local regulation may occur only upon intimate effector (LGALS1 expressing) cell-T-cell attachment
  • loss of function in SLAMF7 observed in PTPRC-deficient NK cells
  • in T-cells, cholesterol-dependent membrane domains function in the regulation of the Src family kinase LCK by sequestering LCK from its activator PTPRC
  • cell & other
    REGULATION
    Other regulated by HNRNPLL, a critical inducible regulator of CD45 alternative splicing
    cleaved by serine/metalloproteinases and gamma-secretases during activation of monocytes and granulocytes and the intracellular fragment can function as inhibitory messenger for T cells
    ASSOCIATED DISORDERS
    corresponding disease(s) SCIDNK
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional somatic mutation      
    abnormal splicing in hemophagocytic lymphohitiocytosis in association with perforin mutation
    tumoral somatic mutation     gain of function
    in T-cell acute lymphoblastic leukemia
    Susceptibility
  • to multiple sclerosis
  • to Graves disease or hepatitis B infection
  • to severe outcome in hepatitis C
  • Variant & Polymorphism SNP
  • 138 G allele protecting against Graves disease or hepatitis B infection
  • allele C77G associated to severe outcome in hepatitis C
  • a SNP is associated with the response to anti-TNF therapy and an rheumatoid arthritis risk allele
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerhemopathy 
    antigenic marker with which to identify undifferentiated hematopoietic tumors
    ANIMAL & CELL MODELS
  • bone marrow derived macrophages from Ptprc-deficient mice exhibit abnormal cell morphology and defective motility