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GFAP glial fibrillary acidic protein [ Homo sapiens (human) ]

Gene ID: 2670, updated on 15-Oct-2017
Official Symbol
GFAPprovided by HGNC
Official Full Name
glial fibrillary acidic proteinprovided by HGNC
Primary source
HGNC:HGNC:4235
See related
Ensembl:ENSG00000131095 MIM:137780; Vega:OTTHUMG00000179866
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ALXDRD
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]
Orthologs
Location:
17q21.31
Exon count:
10
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (44905626..44915552, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42982994..42992920, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene elongation factor Tu GTP binding domain containing 2 Neighboring gene RNA, 7SL, cytoplasmic 405, pseudogene Neighboring gene coiled-coil domain containing 103 Neighboring gene uncharacterized LOC105371793 Neighboring gene kinesin family member 18B Neighboring gene microRNA 6783

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Ascorbate supplementation prevents the deleterious upregulation of iNOS and associated neuronal (MAP2) and astrocytic (GFAP) protein expression and structural changes caused by gp120 in human brain cell cultures PubMed
env The phosphorylation of the two major cytoskeletal proteins, vimentin and GFAP, which is normally stimulated by isoproterenol, is partially prevented by HIV-1 gp120 in astrocytes PubMed
env Treatment of human brain tissue with HIV-1 gp120 causes astrocyte alterations and/or death observed by decreases in the expression of glial fibrillary acidic protein (GFAP), as well as the diminution of a major protein of 66 kDa PubMed
Nef nef HIV-1 Nef downregulates the expression of GFAP to a great extent in astrocytes than the hyperglycemia PubMed
nef HIV-1 Nef co-localizes with the astrocyte-specific cytoskeleton protein GFAP in persistently nef-expressing human astrocytes, suggesting an interaction between Nef and GFAP may contribute to changes in morphology and activation state of astrocytes PubMed
nef Nef upregulates the levels of glial fibrillary acidic protein (GFAP) expression in human astrocytes PubMed
Tat tat HIV-1 clade B and C Tat upregulate the expression of GFAP in primary glia PubMed
tat HIV-1 Tat expression in astrocytes results in a significant increase in glial fibrillary acidic protein (GFAP) expression PubMed
tat HIV-1 Tat-induced upregulation and phosphorylation of STAT3 expression results in increased GFAP, Egr-1, and p300 transcription and protein expression in both Tat-expressing astrocytes, and HIV-infected astrocytes PubMed
tat HIV-1 Tat-mediated upregulation of adenovirus E1a-associated 300 kDa protein p300 regulates increased GFAP expression in astrocytes PubMed
Vpr vpr HIV-1 Vpr upregulates expression of CCL5 and causes CCL5 co-localization with GFAP in the cytoplasm of astrocytes PubMed
retropepsin gag-pol HIV-1 protease cleaves the intermediate filament proteins vimentin, desmin, and glial fibrillary acidic protein in vitro PubMed

Go to the HIV-1, Human Interaction Database

  • Jak-STAT signaling pathway, organism-specific biosystem (from KEGG)
    Jak-STAT signaling pathway, organism-specific biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
  • Jak-STAT signaling pathway, conserved biosystem (from KEGG)
    Jak-STAT signaling pathway, conserved biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
  • Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
    Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...
  • Nuclear signaling by ERBB4, organism-specific biosystem (from REACTOME)
    Nuclear signaling by ERBB4, organism-specific biosystemBesides signaling as a transmembrane receptor, ligand activated homodimers of ERBB4 JM-A isoforms (ERBB4 JM-A CYT1 and ERBB4 JM-A CYT2) undergo proteolytic cleavage by ADAM17 (TACE) in the juxtamembr...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by ERBB4, organism-specific biosystem (from REACTOME)
    Signaling by ERBB4, organism-specific biosystemERBB4, also known as HER4, belongs to the ERBB family of receptors, which also includes ERBB1 (EGFR i.e. HER1), ERBB2 (HER2 i.e. NEU) and ERBB3 (HER3). Similar to EGFR, ERBB4 has an extracellular lig...
  • Spinal Cord Injury, organism-specific biosystem (from WikiPathways)
    Spinal Cord Injury, organism-specific biosystemThis pathway provides an overview of cell types, therapeutic targets, drugs, new proposed targets and pathways implicated in spinal cord injury. Spinal cord injury is a complex multistep process that...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ42474, FLJ45472

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
integrin binding IEA
Inferred from Electronic Annotation
more info
 
kinase binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
Bergmann glial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
astrocyte development IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix organization IEA
Inferred from Electronic Annotation
more info
 
intermediate filament organization IDA
Inferred from Direct Assay
more info
PubMed 
long-term synaptic potentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neuron projection development IEA
Inferred from Electronic Annotation
more info
 
neuron projection regeneration IEA
Inferred from Electronic Annotation
more info
 
positive regulation of Schwann cell proliferation IEA
Inferred from Electronic Annotation
more info
 
regulation of chaperone-mediated autophagy ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of chaperone-mediated autophagy TAS
Traceable Author Statement
more info
PubMed 
regulation of neurotransmitter uptake IEA
Inferred from Electronic Annotation
more info
 
regulation of protein complex assembly TAS
Traceable Author Statement
more info
PubMed 
response to wounding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
astrocyte end-foot IEA
Inferred from Electronic Annotation
more info
 
cell body IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic side of lysosomal membrane IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
intermediate filament IEA
Inferred from Electronic Annotation
more info
 
intermediate filament cytoskeleton IDA
Inferred from Direct Assay
more info
 
colocalizes_with lysosome ISS
Inferred from Sequence or Structural Similarity
more info
 
myelin sheath IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
glial fibrillary acidic protein

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008401.1 RefSeqGene

    Range
    4995..14921
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001131019.2NP_001124491.1  glial fibrillary acidic protein isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs at the 3' coding region and 3' UTR, compared to variant 1, which results in a protein (isoform 2, also known as isoform epsilon) with a shorter and distinct C-terminus when compared to isoform 1.
    Source sequence(s)
    AJ306447, AK128790, BF526347, DA254392
    Consensus CDS
    CCDS45708.1
    UniProtKB/Swiss-Prot
    P14136
    Related
    ENSP00000403962.1, OTTHUMP00000262839, ENST00000435360.7, OTTHUMT00000448709
    Conserved Domains (2) summary
    pfam00038
    Location:68376
    Filament; Intermediate filament protein
    pfam04732
    Location:466
    Filament_head; Intermediate filament head (DNA binding) region
  2. NM_001242376.1NP_001229305.1  glial fibrillary acidic protein isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs at the 3' coding region and 3' UTR, compared to variant 1, which results in a protein (isoform 3, also known as isoform kappa) with a shorter and distinct C-terminus when compared to isoform 1.
    Source sequence(s)
    BC062609, BF526347, BM687259, DA254392, DA315956, DQ979832
    Consensus CDS
    CCDS59296.1
    UniProtKB/Swiss-Prot
    P14136
    UniProtKB/TrEMBL
    A7REI1
    Related
    ENSP00000491088.1, OTTHUMP00000262840, ENST00000638281.1, OTTHUMT00000448710
    Conserved Domains (2) summary
    pfam00038
    Location:68376
    Filament; Intermediate filament protein
    pfam04732
    Location:366
    Filament_head; Intermediate filament head (DNA binding) region
  3. NM_002055.4NP_002046.1  glial fibrillary acidic protein isoform 1

    See identical proteins and their annotated locations for NP_002046.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes a predominant isoform (1, also known as alpha).
    Source sequence(s)
    AC015936, BC013596, BF341765, DA254392, J04569
    Consensus CDS
    CCDS11491.1
    UniProtKB/Swiss-Prot
    P14136
    UniProtKB/TrEMBL
    K7EMP8
    Related
    ENSP00000466598.2, OTTHUMP00000262835, ENST00000588735.2, OTTHUMT00000448701
    Conserved Domains (2) summary
    pfam00038
    Location:68376
    Filament; Intermediate filament protein
    pfam04732
    Location:466
    Filament_head; Intermediate filament head (DNA binding) region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

    Range
    44905626..44915552 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024451.1XP_016879940.1  glial fibrillary acidic protein isoform X1

    UniProtKB/TrEMBL
    A0A1X7SBR3
    Related
    ENSP00000253408.5, ENST00000253408.10

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 Alternate CHM1_1.1

    Range
    43219135..43229061 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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