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FLASH GENE
Symbol PTPN23 contributors: mct/npt - updated : 05-06-2019
HGNC name protein tyrosine phosphatase, non-receptor type 23
HGNC id 14406
Corresponding disease
EIEE92 epileptic encephalopathy, early infantile, 92
Location 3p21.31      Physical location : 47.422.490 - 47.454.931
Synonym name
  • HIS-domain protein tyrosine phosphatase
  • protein tyrosine phosphatase TD14
    • Synonym symbol(s) HD-PTP, KIAA1471, HDPTP, PTP-TD14, DKFZP564F0923, myopic
    EC.number 3.1.3.48
    DNA
    TYPE functioning gene
    STRUCTURE 32.46 kb     25 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    25 - 5302 179 1636 - 2007 17959146
    24 - 5174 - 1510 - 2007 17959146
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node   highly
    Nervousbrain   highly Homo sapiens
     nerve   highly
    Respiratoryrespiratory tractlarynx  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal domain similar to yeast BRO1, AIP1 and rhophilin
  • "Zn-hand" domain containing several SH3-binding motif
  • a tyrosine phosphatase domain
  • a C terminal PEST motif
    • HOMOLOGY
    interspecies homolog to rattus Ptp-td4
    ortholog to S. cerevisiae Bro1p
    Homologene
    FAMILY
  • protein-tyrosine phosphatase family
  • non-receptor class subfamily
    • CATEGORY enzyme , receptor membrane phosphatase
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,cytoplasm,cytoskeleton,microtubule
    intracellular,nucleus,nucleoplasm,nuclear bodies
    text
  • PTPN23, like SMN, shuttles between nucleus and cytoplasm
    • basic FUNCTION
  • having a role in modulating endothelial motility
  • contributes to the regulation of endothelial motility by modulating the tyrosine phosphorylation of PTK2
  • key regulator of endocytic trafficking in which ESCRT-III binding is important but not strictly essential
  • participates to the regulation of endothelial motility through its interactions with Src and PTK2
  • catalytically inactive protein tyrosine phosphatase
  • essential requirement for early stages of embryonic development
  • non-transmembrane protein tyrosine phosphatase which contributes to the signal transduction pathways involved in the regulation of cell migration and invasion
  • affects the intracellular sorting of activated PDGFRB and the migration, proliferation and tumorigenicity of cells stimulated by PDGF
  • is a prominent haploinsufficient tumor suppressor gene preventing tumor progression through control of integrin trafficking
  • selectively regulates synaptic neuropeptide release
  • expressed non-receptor type, catalytically inactive protein-tyrosine phosphatase found in all cells including neurons
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds Focal Adhesion Kinase (PTK2), a crucial regulator of cell migration
  • binds CHMP4B via its Bro1 domain, and TSG101 via a central domain that contains two PS/TAP motifs and other proline-rich sequences
  • interaction of PTPN23 with two adapters of the GRB2 family, essential for numerous signaling pathways, suggesting that PTPN23 might be important for signaling through a plethora of receptors
  • evolutionarily conserved function of PTPN23-RAB4A in the regulation of endocytic trafficking, cell adhesion and migration
  • is a central coordinator of the ESCRT pathway for EGFR
  • specific interaction between PTPN23 and the ESCRT-I subunit UBAP1 critical for degradation of growth factor receptors and integrins
  • ZFYVE9, ZFYVE16 recruit the tumor supressor PTPN23, a master regulator of endosomal sorting and ESCRT-dependent receptor downregulation
    • cell & other
    REGULATION
    Other differentially modulated by two angiogenic growth factors
    degraded by calpains in a calcium-dependent manner, resulting in the acquisition of a more aggressive phenotype in neoplastic cells
    ASSOCIATED DISORDERS
    corresponding disease(s) EIEE92
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    loss of PTPN23 may increase the activity of SRC and the phosphorylation status of the CDH1/CTNNB signaling complex to promote tumor growth and invasive behavior in breast cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS