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FLASH GENE
Symbol PPFIBP1 contributors: SGE/npt - updated : 04-10-2022
HGNC name PTPRF interacting protein, binding protein 1 (liprin beta 1)
HGNC id 9249
Corresponding disease
NEDSMBA neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities
Location 12p11.22      Physical location : 27.677.044 - 27.848.496
Synonym name
  • polypeptide-interacting protein-binding protein 1
  • liprin related protein
  • protein tyrosine phosphatase receptor type f polypeptide-interacting protein-binding 1
  • Synonym symbol(s) KIAA1230, L2, SGT2, hSGT2, hSgt2p
    DNA
    TYPE functioning gene
    STRUCTURE 171.36 kb     30 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    30 - 6076 - 1005 - 2010 19965622
  • isoform 1
  • 29 - 6001 - 1011 - 2010 19965622
  • isoform 2
  • 28 - 5908 - 980 - 2010 19965622
    27 - 5696 - 858 - 2010 19965622
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • highly conserved N-terminal coiled-coil region
  • three adjacent C-terminal sterile alpha motifs (SAM domains) that form multiple protein-binding surfaces and allow for protein-protein interaction
  • conjugated PhosphoP
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies ortholog to C.elegans celiprin beta
    homolog to murine Ppfibp1 (90.1pc)
    homolog to rattus Ppfibp1 (89.7pc)
    intraspecies paralog to liprin beta 2
    Homologene
    FAMILY
  • LAR protein-tyrosine phosphatase-interacting protein (liprin) family
  • liprin family
  • liprin beta subfamily
  • CATEGORY chaperone/stress
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • may regulate the disassembly of focal adhesions (Serra-Pages 1998)
  • playing an important role in the maintenance of lymphatic vessel integrity (Normen 2010)
  • contributes positively to tumour cell motility
  • acts likely as a core scaffold to mediate protein assembly in the presynaptic zone
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • may be multivalent protein that forms complex structures and acts as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatase (Serra-Pagès 1998)
  • has the ability to homodimerize and to heterodimerize with the homologous alpha-liprins
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to alpha liprins PPFIAs through the LH domain
  • interacting with S100A4 (inhibiting its phosphorylation by PKC and CK2 in a calcium-dependent mode)
  • formation of the CASK/liprin-alpha/liprin-beta ternary complex suggests that liprins can mediate assembly of target proteins into large protein complexes capable of regulating numerous cellular activities
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NEDSMBA
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    correlates with remarkable invasion and poor prognosis of Glioblastoma multiforme (GBM) patients
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • is a potential therapeutic target of glioma
  • Therapy target
    ANIMAL & CELL MODELS