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

Gene ID: 2670, updated on 27-Nov-2024

Summary

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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; AllianceGenome:HGNC:4235
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]
Expression
Restricted expression toward brain (RPKM 1208.4) See more
Orthologs
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Genomic context

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See GFAP in Genome Data Viewer
Location:
17q21.31
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (44903159..44915500, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (45757042..45769413, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42980527..42992868, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene HIG1 hypoxia inducible domain family member 1B Neighboring gene elongation factor Tu GTP binding domain containing 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:42943931-42944112 Neighboring gene RNA, 7SL, cytoplasmic 405, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:42969539-42970081 Neighboring gene dynein axonemal assembly factor 19 Neighboring gene family with sequence similarity 187 member A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12266 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8603 Neighboring gene uncharacterized LOC105371793 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42997401-42997900 Neighboring gene kinesin family member 18B Neighboring gene microRNA 6783

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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 Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Archetypal and new families with Alexander disease and novel mutations in GFAP. Messing A, et al. Arch Neurol, 2012 Feb. PMID 21987397, Free PMC Article
  2. Glial fibrillary acidic protein in children with congenital heart disease undergoing cardiopulmonary bypass. Brunetti MA, et al. Cardiol Young, 2014 Aug. PMID 23845562
  3. Elevated glial fibrillary acidic protein levels in the cerebrospinal fluid of patients with narcolepsy. Feneberg E, et al. Sleep Med, 2013 Jul. PMID 23746601
  4. Familial adult-onset Alexander disease with a novel mutation (D78N) in the glial fibrillary acidic protein gene with unusual bilateral basal ganglia involvement. Wada Y, et al. J Neurol Sci, 2013 Aug 15. PMID 23743246
  5. Blood levels of glial fibrillary acidic protein (GFAP) in patients with neurological diseases. Mayer CA, et al. PLoS One, 2013. PMID 23626774, Free PMC Article

See all (376) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Glial Fibrillary Acidic Protein Astrocytopathy: Review of Pathogenesis, Imaging Features, and Radiographic Mimics.
    Title: Glial Fibrillary Acidic Protein Astrocytopathy: Review of Pathogenesis, Imaging Features, and Radiographic Mimics.
  2. Amyloid-beta misfolding and GFAP predict risk of clinical Alzheimer's disease diagnosis within 17 years.
    Title: Amyloid-beta misfolding and GFAP predict risk of clinical Alzheimer's disease diagnosis within 17 years.
  3. Glial fibrillary acidic protein is pathologically modified in Alexander disease.
    Title: Glial fibrillary acidic protein is pathologically modified in Alexander disease.
  4. Relationship between increased serum neurofilament light chain and glial fibrillary acidic protein levels with non-motor symptoms in patients with Parkinson's disease.
    Title: Relationship between increased serum neurofilament light chain and glial fibrillary acidic protein levels with non-motor symptoms in patients with Parkinson's disease.
  5. Glial Fibrillary Acidic Protein: Diagnostic and Prognostic Role in Psychomotor Development Dynamics in Patients with Congenital Heart Defects after Cardiovascular Surgery.
    Title: Glial Fibrillary Acidic Protein: Diagnostic and Prognostic Role in Psychomotor Development Dynamics in Patients with Congenital Heart Defects after Cardiovascular Surgery.
  6. Serum glial fibrillary acidic protein and disability progression in progressive multiple sclerosis.
    Title: Serum glial fibrillary acidic protein and disability progression in progressive multiple sclerosis.
  7. The role of plasma neurofilament light chain and glial fibrillary acidic protein in subjective cognitive decline and mild cognitive impairment.
    Title: The role of plasma neurofilament light chain and glial fibrillary acidic protein in subjective cognitive decline and mild cognitive impairment.
  8. Plasma glial fibrillary acidic protein levels correlate with paramagnetic rim lesions in people with radiologically isolated syndrome.
    Title: Plasma glial fibrillary acidic protein levels correlate with paramagnetic rim lesions in people with radiologically isolated syndrome.
  9. Associations of plasma NfL, GFAP, and t-tau with cerebral small vessel disease and incident dementia: longitudinal data of the AGES-Reykjavik Study.
    Title: Associations of plasma NfL, GFAP, and t-tau with cerebral small vessel disease and incident dementia: longitudinal data of the AGES-Reykjavik Study.
  10. Astrocyte biomarkers GFAP and YKL-40 mediate early Alzheimer's disease progression.
    Title: Astrocyte biomarkers GFAP and YKL-40 mediate early Alzheimer's disease progression.
Submit: New GeneRIF Correction See all GeneRIFs (264)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Alexander disease
MedGen: C0270726 OMIM: 203450 GeneReviews: Alexander Disease
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ42474, FLJ45472

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables integrin binding IEA
Inferred from Electronic Annotation
more info
  
enables kinase binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables structural constituent of cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in Bergmann glial cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in D-aspartate import across plasma membrane IEA
Inferred from Electronic Annotation
more info
  
involved_in Schwann cell proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in astrocyte development IEA
Inferred from Electronic Annotation
more info
  
involved_in extracellular matrix organization IEA
Inferred from Electronic Annotation
more info
  
involved_in gene expression IEA
Inferred from Electronic Annotation
more info
  
involved_in intermediate filament organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in intermediate filament organization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in intracellular protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in long-term synaptic potentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of neuron projection development IEA
Inferred from Electronic Annotation
more info
  
involved_in neuron projection regeneration IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of Schwann cell proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of chaperone-mediated autophagy IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of chaperone-mediated autophagy ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of chaperone-mediated autophagy TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of neurotransmitter uptake IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of protein-containing complex assembly TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in astrocyte end-foot IEA
Inferred from Electronic Annotation
more info
  
located_in cell body IEA
Inferred from Electronic Annotation
more info
  
is_active_in cell projection IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasmic side of lysosomal membrane IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
is_active_in intermediate filament IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in intermediate filament cytoskeleton IDA
Inferred from Direct Assay
more info
  
colocalizes_with lysosome ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
glial fibrillary acidic protein

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

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_008401.2 RefSeqGene

    Range
    5000..17341
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001131019.3 → NP_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/TrEMBL
    B4DJW0
    Related
    ENSP00000403962.1, ENST00000435360.8
    Conserved Domains (2) summary
    pfam00038
    Location:68 → 376
    Filament; Intermediate filament protein
    pfam04732
    Location:4 → 66
    Filament_head; Intermediate filament head (DNA binding) region

  2. NM_001242376.3 → NP_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/TrEMBL
    B4DJW0
    Related
    ENSP00000491088.1, ENST00000638281.1
    Conserved Domains (2) summary
    pfam00038
    Location:68 → 376
    Filament; Intermediate filament protein
    pfam04732
    Location:3 → 66
    Filament_head; Intermediate filament head (DNA binding) region

  3. NM_001363846.2 → NP_001350775.1  glial fibrillary acidic protein isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC015936
    Consensus CDS
    CCDS86602.1
    UniProtKB/TrEMBL
    A0A1X7SBR3, B4DJW0
    Related
    ENSP00000253408.5, ENST00000253408.11
    Conserved Domains (2) summary
    pfam00038
    Location:68 → 376
    Filament; Intermediate filament protein
    pfam04732
    Location:4 → 66
    Filament_head; Intermediate filament head (DNA binding) region

  4. NM_002055.5 → NP_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
    A7REI1, B2RD44, D3DX59, E9PAX3, P14136, Q53H98, Q5D055, Q6ZQS3, Q7Z5J6, Q7Z5J7, Q96KS4, Q96P18, Q9UFD0
    UniProtKB/TrEMBL
    B4DJW0
    Related
    ENSP00000466598.2, ENST00000588735.3
    Conserved Domains (2) summary
    pfam00038
    Location:68 → 376
    Filament; Intermediate filament protein
    pfam04732
    Location:4 → 66
    Filament_head; Intermediate filament head (DNA binding) region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    44903159..44915500 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    45757042..45769413 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P14136.1 GenPept UniProtKB/Swiss-Prot:P14136

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