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FLASH GENE
Symbol GFAP contributors: mct/npt - updated : 11-03-2020
HGNC name glial fibrillary acidic protein
HGNC id 4235
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • myosin tail
  • a central alpha-helical rod domain containing characteristic heptad repeats of hydrophobic AA
  • non-alpha-helical N-terminal head domain
  • C-terminal tail domain
    • HOMOLOGY
    Homologene
    FAMILY
  • intermediate filament family
  • type III subfamily
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,intermed filament
    text glial fibrillary, fil intermediate, class III, acidic
    basic FUNCTION
  • acting as a cell-specific marker that, during the development of the central nervous system, distinguishes astrocytes from other glial cells
  • might contribute to form macro-complexes to initiate mitogenic and differentiating signaling for efficient nerve regeneration
  • principal intermediate filament in mature astrocytes of the central nervous system
  • is the main intermediate filament in astrocytes and is regulated by epigenetic mechanisms during development
  • is the characteristic intermediate filament (IF) protein in astrocytes
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • S100A1 binding
  • interacting with VIM and SYNM in astrocytes (Jing 2007)
  • PAX3 is a novel regulator of GFAP transcription, which could bind the promoter region of GFAP and down regulate the GFAP level during the serum-induced astrocyte differentiation of neural stem cells (NSCs)
  • role of retinoic acid signaling in GFAP expression
  • PAX3 is a regulator of GFAP transcription, which could bind the promoter region of GFAP and down regulate the GFAP level during the serum-induced astrocyte differentiation of neural stem cells
  • SIN3A coupled with MECP2 bound to the GFAP promoter and their occupancies were correlated with repression of GFAP transcription
  • caspase-mediated GFAP proteolysis may be a common event in the context of both the GFAP mutation and excess
  • histone acetylation in astrocytes suppresses GFAP and stimulates a reorganization of the intermediate filament network
    • cell & other
    REGULATION
    repressed by PAX3, that negatively regulates GFAP expression during astrocyte differentiation
    ASSOCIATED DISORDERS
    corresponding disease(s) ALXD1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in patients with structural lesions resulting from mild traumatic brain injuries
    constitutional     --over  
    in Alzheimer disease and correlates with cognitive impairment
    constitutional     --over  
    in the cerebrospinal fluid of Alzheimer disease, dementia with Lewy bodies, and frontotemporal lobar degeneration
    constitutional     --over  
    in anterior cingulate cortical white matter in males with autism spectrum disorder
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • role of GFAP and UCHL1 as candidate biomarkers for pediatric traumatic brain injury (TBI)
    • Marker
  • marker for astrogliosis, and is a potential biomarker for multiple sclerosis (MS) progression and may have a role in clinical trials for assessing the impact of therapies on MS progression
  • increased serum GFAP, S100B, ENO2 are associated with acute CO poisoning, and these biomarkers can be useful in assessing the clinical status of patients with CO poisoning
  • autoantibodies against GFAP could serve as a predictive marker for the development of overt autoimmune diabetes
  • is a promising diagnostic biomarker for intracerebral hemorrhage (ICH) diagnosis in the early pre-hospital phase
    • Therapy target
    ANIMAL & CELL MODELS