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

    Gene ID: 2670, updated on 15-Jun-2019

    Summary

    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
    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

    Genomic context

    See GFAP in Genome Data Viewer
    Location:
    17q21.31
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 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 coiled-coil domain containing 103 Neighboring gene family with sequence similarity 187 member A Neighboring gene uncharacterized LOC105371793 Neighboring gene kinesin family member 18B Neighboring gene microRNA 6783

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    HIV-1 interactions

    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 BioSystems

    • 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...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    structural constituent of cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    intermediate filament organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 protein complex assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    intermediate filament IEA
    Inferred from Electronic Annotation
    more info
     
    colocalizes_with lysosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    glial fibrillary acidic protein

    NCBI Reference Sequences (RefSeq)

    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_001131019.3NP_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, ENST00000435360.7
      Conserved Domains (2) summary
      pfam00038
      Location:68376
      Filament; Intermediate filament protein
      pfam04732
      Location:466
      Filament_head; Intermediate filament head (DNA binding) region
    2. NM_001242376.2NP_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)
      AC015936, BC062609, BF526347, BM687259, DA254392, DA315956, DQ979832
      Consensus CDS
      CCDS59296.1
      UniProtKB/Swiss-Prot
      P14136
      UniProtKB/TrEMBL
      A7REI1
      Related
      ENSP00000491088.1, ENST00000638281.1
      Conserved Domains (2) summary
      pfam00038
      Location:68376
      Filament; Intermediate filament protein
      pfam04732
      Location:366
      Filament_head; Intermediate filament head (DNA binding) region
    3. NM_001363846.1NP_001350775.1  glial fibrillary acidic protein isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC015936
      Consensus CDS
      CCDS86602.1
      Conserved Domains (2) summary
      pfam00038
      Location:68376
      Filament; Intermediate filament protein
      pfam04732
      Location:466
      Filament_head; Intermediate filament head (DNA binding) region
    4. NM_002055.5NP_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, ENST00000588735.3
      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 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      44903159..44915552 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024450692.1XP_024306460.1  glial fibrillary acidic protein isoform X3

      Conserved Domains (2) summary
      pfam00038
      Location:68444
      Filament; Intermediate filament protein
      pfam04732
      Location:466
      Filament_head; Intermediate filament head (DNA binding) region
    2. XM_024450690.1XP_024306458.1  glial fibrillary acidic protein isoform X1

      Conserved Domains (2) summary
      pfam00038
      Location:68444
      Filament; Intermediate filament protein
      pfam04732
      Location:466
      Filament_head; Intermediate filament head (DNA binding) region
    3. XM_024450691.1XP_024306459.1  glial fibrillary acidic protein isoform X2

      Conserved Domains (2) summary
      pfam00038
      Location:68444
      Filament; Intermediate filament protein
      pfam04732
      Location:166
      Filament_head; Intermediate filament head (DNA binding) region
    4. XM_024450693.1XP_024306461.1  glial fibrillary acidic protein isoform X4

      Conserved Domains (2) summary
      pfam00038
      Location:68444
      Filament; Intermediate filament protein
      pfam04732
      Location:466
      Filament_head; Intermediate filament head (DNA binding) region
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