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FLASH GENE

Symbol

GFAP

contributors: mct/npt - updated : 11-03-2020

HGNC name	glial fibrillary acidic protein
HGNC id	4235

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002055 9 - 3081 NP_002046 50 432 - 2016 27141937 also called GFAP alpha NM_001131019 8 splicing 1837 NP_001124491 - 431 - 2003 12837269 also called GFAP epsilon exon 7A and loss of exons 8and 9 confering binding capacity for the presenilin proteins GFAPD - - - - - . specifically in the adult brain cells . and specifically expressed in radial glia and subventricular zone neural progenitors during brain development 2016 27141937 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 NM_001242376 7 - 2193 NP_001229305 - 438 - 2003 12837269 GFAP kappa NM_001363846 10 - 3206 NP_001350775 - 472 - 2003 12837269

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain limbic system hippocampus   highly Respiratory respiratory tract larynx     highly Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Nervous central       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous astrocyte Homo sapiens Nervous neuron

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
	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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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