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FLASH GENE
Symbol GFAP contributors: mct/npt - updated : 10-01-2012
HGNC name glial fibrillary acidic protein
HGNC id 4235
Corresponding disease
ALXD1 Alexander disease 1
Location 17q21.31      Physical location : 42.982.992 - 42.992.914
Synonym name intermediate filament protein
Synonym symbol(s) DT1P1A4, FLJ45472
DNA
TYPE functioning gene
STRUCTURE 9.93 kb     9 Exon(s)
10 Kb 5' upstream gene genomic sequence study
text structure
  • five or more CAG repeats
  • MAPPING cloned Y linked N status confirmed
    Physical map
    ASB16 17q21.31 ankyrin repeat and SOCS box-containing 16 DKFZp762C2414 17q21.31 hypothetical protein DKFZp762C2414 MGC3123 17q21.31 hypothetical protein MGC3123 UBTF 17q21.3 upstream binding transcription factor, RNA polymerase I LOC390799 17 similar to SHC (Src homology 2 domain containing) transforming protein 1; SHC (Src homology 2 domain-containing) transforming protein 1 SLC4A1 17q21-q22 solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) RPIP8 17p13.2 solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) CGI-69 17q12 CGI-69 protein GRN 17q21.3 granulin MGC34829 17q21.31 Similar to hypothetical gene supported by AL050367; AK022946 LOC390800 17 similar to ribosomal protein L7-like 1 ITGA2B 17q21.32 integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B) KIAA0553 17q21.31 KIAA0553 protein FZD2 17q21.1 frizzled homolog 2 (Drosophila) FLJ35848 17q21.31 hypothetical protein FLJ35848 FLJ31795 17q21.31 hypothetical protein FLJ31795 DRF1 17q21.31 Dbf4-related factor 1 ADAM11 17q21.3 a disintegrin and metalloproteinase domain 11 GJA7 17q21.31 gap junction protein, alpha 7, 45kDa (connexin 45) CLST11240 17q21.31 CLST 11240 protein U5-116KD 17q21.31 U5 snRNP-specific protein, 116 kD LOC388389 17 similar to RIKEN cDNA 4933439F11 GFAP 17q21.1 glial fibrillary acidic protein LOC146909 17q21.31 hypothetical protein LOC146909 CRF 17q21 C1q-related factor FLJ22955 17q21.31 hypothetical protein FLJ22955 NMT1 17q21.32 N-myristoyltransferase 1 PLCD3 17q21 phospholipase C, delta 3 ACBD4 17q21.31 acyl-Coenzyme A binding domain containing 4 HIS1 17q21.1 acyl-Coenzyme A binding domain containing 4 FLJ32384 17q21.31 hypothetical protein MGC39389 FMNL1 17q21 formin-like 1 FLJ25414 17q21.31 hypothetical protein FLJ25414 MAP3K14 17q21 mitogen-activated protein kinase kinase kinase 14 LOC388390 17 LOC388390 LOC201176 17q21.31 similar to Rho GTPase activating protein 12 LOC201175 17q21.31 hypothetical protein LOC201175 KIAA0356 17q21.1-q23.2 hypothetical protein LOC201175 FLJ10120 17q21.31 hypothetical protein FLJ10120 LOC388391 17 similar to KIAA0563 protein
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 3081 50 432 - 2003 12837269
    also called GFAP alpha
    8 splicing 1837 - 431 - 2003 12837269
  • also called GFAP epsilon
  • exon 7A and loss of exons 8and 9 confering binding capacity for the presenilin proteins
  • - - - - - . specifically in the adult brain cells . and specifically expressed in radial glia and subventricular zone neural progenitors during brain development 2010 20040497
  • GFAP delta
  • differs in its C-terminal sequence from other GFAP isoforms (PMID: 19508443)
  • useful marker for the demonstration of balloon cells in cortical dysplasia (FCD) type IIB, cortical tuberous sclerosis (TSC) lesions, which may be relevant to their abnormal size and localization
  • can distinguish resting astrocytes from proliferating subventricular zone progenitors
  • GFAP-delta may be a useful diagnostic marker for the evaluation of functional cataplasia or proliferation of astrocytic tumor
  • 7 - 2193 - 438 - 2003 12837269
    GFAP kappa
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainlimbic systemhippocampus highly
    Respiratoryrespiratory tractlarynx  highly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Nervouscentral   
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousastrocyte
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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
  • 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
  • cell & other
    REGULATION
    repressed by PAX3, that negatively regulates GFAP expression during astrocyte differentiation
    ASSOCIATED DISORDERS
    corresponding disease(s) ALXD1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    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
  • Therapy target
    ANIMAL & CELL MODELS