Statements (90)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:Alexander_disease
gliosis |
| gptkbp:discoveredBy |
Lawrence Eng
|
| gptkbp:encodes |
GFAP protein
|
| gptkbp:Entrez_Gene_ID |
2670
|
| gptkbp:expressedIn |
central nervous system
astrocytes ependymal cells radial glia pituicytes satellite glial cells Bergmann glia Müller glia amygdala glia astroblastoma cells brainstem glia cerebellar Purkinje layer glia cerebellar cortex glia cerebellar deep nuclei glia cerebellar dentate nuclei glia cerebellar fastigial nuclei glia cerebellar glia cerebellar granular layer glia cerebellar interposed nuclei glia cerebellar molecular layer glia cerebellar white matter glia cerebral cortex glia choroid plexus glia cortical glia enteric glia ependymoma cells fibrous astrocytes glioma cells gray matter glia hippocampal glia hypothalamic glia meningeal glia midbrain glia non-myelinating Schwann cells olfactory bulb glia olfactory ensheathing cells optic nerve glia pineal gland glia pituitary gland glia protoplasmic astrocytes reactive astrocytes retinal glia spinal cord glia striatum glia subgranular zone cells subpial astrocytes subventricular zone cells tanycytes thalamic glia white matter glia |
| gptkbp:firstDescribed |
1971
|
| gptkbp:fullName |
gptkb:Glial_fibrillary_acidic_protein
|
| gptkbp:function |
intermediate filament protein
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:hasTranscriptVariant |
multiple
|
| gptkbp:HGNC_ID |
HGNC:4235
|
| https://www.w3.org/2000/01/rdf-schema#label |
GFAP gene
|
| gptkbp:length |
432 amino acids
|
| gptkbp:locatedOnChromosome |
gptkb:17q21
|
| gptkbp:mutationAssociatedWith |
causes Alexander disease
|
| gptkbp:OMIM |
137780
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Gfap
|
| gptkbp:postTranslationalModification |
phosphorylation
oxidation glycosylation sumoylation ubiquitination proteolysis acetylation nitration |
| gptkbp:product |
coiled-coil domain
tail domain head domain type III intermediate filament |
| gptkbp:proteinFamily |
intermediate filament proteins
|
| gptkbp:studiedBy |
neurodegenerative diseases
brain injury glioma |
| gptkbp:UniProtID |
P14136
|
| gptkbp:usedAsMarker |
astrocytes
|
| gptkbp:bfsParent |
gptkb:GFAP
|
| gptkbp:bfsLayer |
7
|