GFAP Gene Summary [Human]
This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
Details
| Type | Protein Coding |
| Official Symbol | GFAP |
| Official Name | glial fibrillary acidic protein [Source:HGNC Symbol;Acc:HGNC:4235] |
| Ensembl ID | ENSG00000131095 |
| Bio databases IDs | |
| Aliases | glial fibrillary acidic protein, intermediate filament protein |
| Synonyms | ALXDRD, glial fibrillary acidic, glial fibrillary acidic protein, GLIAL FILAMENT protein (50 KDA), M25937 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GFAP often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Intermediate filament head (DNA binding) region
- kinase binding
- structural constituent of cytoskeleton
- integrin binding
- protein binding
- Intermediate filament protein
- identical protein binding
Pathways
Biological processes and signaling networks where the GFAP gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- lymphomagenesis
- schizophrenia
- Huntington disease
- diabetes mellitus
- major depression
- infection
- non-insulin-dependent diabetes mellitus
- Alzheimer disease
- medulloblastoma
- brain cancer
role in cell
- expression in
- migration
- differentiation
- proliferation
- morphology
- cell death
- activation in
- phosphorylation in
- quantity
- adhesion
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- myelin enriched fraction
- postsynaptic density (PSD) fractions
- membrane fraction
- intermediate filament cytoskeleton
- cytoskeleton
- perinuclear region
- cellular membrane
- inner membrane
- filamentous network
- Nucleus
- lysosome
- intermediate filaments
- cytosol
- perisomatic process
- vitreal membranes
- lysosome membrane
- glial cell projections
- cellular protrusions
- membrane processes
- perikaryon
- axons
- astrocyte projections
- plasma
- basement membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GFAP gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- astrocyte development
- Schwann cell proliferation
- Bergmann glial cell differentiation
- regulation of protein complex assembly
- regulation of neurotransmitter uptake
- intracellular protein transport
- intermediate filament organization
- negative regulation of neuron projection development
- positive regulation of Schwann cell proliferation
- extracellular matrix organization
- gene expression
- neuron projection regeneration
- long-term synaptic potentiation
- D-aspartate import
Cellular Component
Where in the cell the gene product is active
- intermediate filament cytoskeleton
- cytoplasm
- cell body
- cytosol
- intermediate filament
- cell projection
- lysosome
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- integrin binding
- structural constituent of cytoskeleton
- kinase binding