InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: GFAP

Summary

InnateDB Gene

IDBG-54485.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GFAP

Gene Name

glial fibrillary acidic protein

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000131095

Encoded Proteins

IDBP-54487

glial fibrillary acidic protein

IDBP-54489

glial fibrillary acidic protein

IDBP-379839

glial fibrillary acidic protein

IDBP-763452

IDBP-758623

IDBP-762555

IDBP-763520

IDBP-761046

IDBP-762510

IDBP-761530

IDBP-758589

IDBP-757671

IDBP-763709

IDBP-764305

IDBP-762796

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 17:44905008-44916937

Strand

Reverse strand

Band

q21.31

Transcripts

ENST00000253408	ENSP00000253408
ENST00000376990	ENSP00000366189
ENST00000435360	ENSP00000403962
ENST00000591880	ENSP00000467530
ENST00000588316	ENSP00000465629
ENST00000592065
ENST00000585728	ENSP00000465208
ENST00000585543
ENST00000589701
ENST00000591719
ENST00000586127	ENSP00000464795
ENST00000586793	ENSP00000468500
ENST00000587997	ENSP00000465624
ENST00000588640
ENST00000592706
ENST00000586125	ENSP00000467397
ENST00000588957	ENSP00000465565
ENST00000591327
ENST00000592320	ENSP00000465320
ENST00000588037	ENSP00000466163
ENST00000590922
ENST00000588735	ENSP00000466598
ENST00000593179	ENSP00000467106

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:0005178	integrin binding
GO:0005198	structural molecule activity
GO:0005200	structural constituent of cytoskeleton
GO:0005515	protein binding
GO:0019900	kinase binding

Biological Process

GO:0009611	response to wounding
GO:0010625	positive regulation of Schwann cell proliferation
GO:0010977	negative regulation of neuron projection development
GO:0014002	astrocyte development
GO:0030198	extracellular matrix organization
GO:0031102	neuron projection regeneration
GO:0045103	intermediate filament-based process
GO:0045109	intermediate filament organization
GO:0051580	regulation of neurotransmitter uptake
GO:0060020	Bergmann glial cell differentiation
GO:0060252	positive regulation of glial cell proliferation
GO:0060291	long-term synaptic potentiation

Cellular Component

GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0005882	intermediate filament
GO:0016020	membrane
GO:0042995	cell projection
GO:0044297	cell body
GO:0097449	astrocyte projection

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000020932

View Gene Order

ENSBTAG00000013534

Not yet available

Pathways

NETPATH

REACTOME

REACT_116022

Nuclear signaling by ERBB4 pathway

REACT_115596

Signaling by ERBB4 pathway

REACT_111102

Signal Transduction pathway

KEGG

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.514227

RefSeq

NM_001131019 NM_001242376 NM_002055

HUGO

OMIM

CCDS

CCDS11491 CCDS45708 CCDS59296

HPRD

00675

IMGT

EMBL

GenPept

RNA Seq Atlas