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glial fibrillary acidic protein; GFAP (GFAP)
Classification:
- class-3 intermediate filament protein
Function:
- inhibits neuronal sprouting
- interacts with SYNM (putative)
- isoform 3 interacts with PSEN1 (via N-terminus)
Structure:
- belongs to the intermediate filament family
Compartment:
- cytoplasm
- associated with intermediate filaments
Alternative splicing:
- named isoforms=3;
- isoforms differ in the C-terminal region
Expression:
- expressed in cells lacking fibronectin
- cells of astroglial lineage
Pathology:
- defects in GFAP are a cause of Alexander disease
Laboratory:
- GFAP in blood FDA-approved to evaluate mild traumatic brain injury (concussion) in adults
- assessment of need for CT of brain [6]
Note:
- during the development of the central nervous system, distinguishes astrocytes from other glial cells
Interactions
molecular events
Related
GFAP gene mutation
glial fibrillary acidic protein (GFAP) Ag in tissue
glial fibrillary acidic protein (GFAP) in blood/plasma/serum
General
intermediate filament protein
phosphoprotein
Properties
SIZE: entity length = 432 aa
MW = 50 kD
COMPARTMENT: cytoplasm
CELL: neuroglia
MOTIF: Head {1-72}
Rod {73-377}
MOTIF: Coil 1A {73-104}
Linker 1 {105-115}
Thr phosphorylation site {T110}
Coil 1B {116-214}
Linker 12 {215-230}
Coil 2A {231-252}
Linker 2 {253-256}
Coil 2B {257-377}
Tail {378-432}
MOTIF: Thr phosphorylation site {T383}
Database Correlations
OMIM correlations
MORBIDMAP 137780
UniProt P14136
PFAM correlations
Entrez Gene 2670
Kegg hsa:2670
References
- UniProt :accession P14136
- Human intermediate Filament mutation Database
http://www.interfil.org
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=GFAP
- Wikipedia; Note: GFAP entry
http://en.wikipedia.org/wiki/Glial_fibrillary_acidic_protein
- Entrez Gene :accession 2670
- Brooks M
FDA Clears First Blood Test to Aid in Concussion Diagnosis.
Medscape - Feb 14, 2018.
https://www.medscape.com/viewarticle/892683
- FDA News Release. Feb 14, 2018
FDA authorizes marketing of first blood test to aid in the
evaluation of concussion in adults.
https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm596531.htm