Version 5.4
Homo sapiens Protein: GFAP
Summary
InnateDB Protein IDBP-54487.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GFAP
Protein Name glial fibrillary acidic protein
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000253408
InnateDB Gene IDBG-54485 (GFAP)
Protein Structure
UniProt Annotation
Function GFAP, a class-III intermediate filament, is a cell- specific marker that, during the development of the central nervous system, distinguishes astrocytes from other glial cells.
Subcellular Localization Cytoplasm {ECO:0000269PubMed:12058025}. Note=Associated with intermediate filaments.
Disease Associations Alexander disease (ALEXD) [MIM:203450]: A rare disorder of the central nervous system. The most common form affects infants and young children, and is characterized by progressive failure of central myelination, usually leading to death within the first decade. Infants with Alexander disease develop a leukodystrophy with macrocephaly, seizures, and psychomotor retardation. Patients with juvenile or adult forms typically experience ataxia, bulbar signs and spasticity, and a more slowly progressive course. Histologically, Alexander disease is characterized by Rosenthal fibers, homogeneous eosinophilic inclusions in astrocytes. {ECO:0000269PubMed:11138011, ECO:0000269PubMed:11567214, ECO:0000269PubMed:11595337, ECO:0000269PubMed:12034796, ECO:0000269PubMed:12944715, ECO:0000269PubMed:12975300}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expressed in cells lacking fibronectin. {ECO:0000269PubMed:1847665}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 36 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated
Total 36 [view]
Protein-Protein 36 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005198 structural molecule activity
Biological Process
Cellular Component
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005882 intermediate filament
Protein Structure and Domains
PDB ID
InterPro IPR001664 Intermediate filament protein
PFAM PF00038
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P14136
PhosphoSite PhosphoSite-P14136
TrEMBL K7EKD1
UniProt Splice Variant
Entrez Gene 2670
UniGene Hs.514227
RefSeq NP_002046
HUGO HGNC:4235
OMIM 137780
CCDS CCDS11491
HPRD 00675
IMGT
EMBL AC015936 AF419299 AJ306447 AK128790 AK222683 AK315398 AL133013 AY142187 AY142188 AY142191 BC013596 BC041765 BC062609 CH471178 J04569 M26638 S40719
GenPept AAA52528 AAA52529 AAB22581 AAH13596 AAH41765 AAH62609 AAL16662 AAN87903 AAN87904 AAN87907 BAC87610 BAD96403 BAG37791 CAB61354 CAC69881 EAW51570 EAW51571

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca