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

    Gene ID: 2670, updated on 2-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
    mouse all
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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 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)

    Genotypes

    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

    Gene LinkOut

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