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    Gfap glial fibrillary acidic protein [ Mus musculus (house mouse) ]

    Gene ID: 14580, updated on 2-Nov-2024

    Summary

    Official Symbol
    Gfapprovided by MGI
    Official Full Name
    glial fibrillary acidic proteinprovided by MGI
    Primary source
    MGI:MGI:95697
    See related
    Ensembl:ENSMUSG00000020932 AllianceGenome:MGI:95697
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    A structural constituent of cytoskeleton. Involved in regulation of chaperone-mediated autophagy. Acts upstream of or within with a positive effect on D-aspartate import across plasma membrane; gene expression; and intracellular protein transport. Acts upstream of or within several processes, including long-term synaptic potentiation; neurogenesis; and positive regulation of Schwann cell proliferation. Located in several cellular components, including astrocyte end-foot; cell body; and intermediate filament. Is expressed in several structures, including alimentary system; hemolymphoid system; integumental system; nervous system; and sensory organ. Used to study Alexander disease. Human ortholog(s) of this gene implicated in Alexander disease. Orthologous to human GFAP (glial fibrillary acidic protein). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in cerebellum adult (RPKM 34.4), frontal lobe adult (RPKM 32.7) and 4 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Gfap in Genome Data Viewer
    Location:
    11 E1; 11 66.48 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (102778162..102791368, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (102887336..102897200, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene elongation factor Tu GTP binding domain containing 2 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:102742482-102742665 Neighboring gene coiled-coil domain containing 103 Neighboring gene family with sequence similarity 187, member A Neighboring gene predicted gene, 34560 Neighboring gene kinesin family member 18B Neighboring gene STARR-seq mESC enhancer starr_30821 Neighboring gene complement component 1, q subcomponent-like 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables integrin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables kinase binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables kinase binding ISO
    Inferred from Sequence Orthology
    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
     
    enables structural constituent of cytoskeleton IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables structural constituent of cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within Bergmann glial cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within_positive_effect D-aspartate import across plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of Schwann cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within astrocyte development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within extracellular matrix organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within_positive_effect gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intermediate filament organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within intermediate filament organization IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within intermediate filament organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intermediate filament organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in intermediate filament organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within intermediate filament-based process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within_positive_effect intracellular protein transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within long-term synaptic potentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of neuron projection development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of neuron projection development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of neuron projection development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of neuron projection development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neuron projection regeneration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of Schwann cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of glial cell proliferation ISO
    Inferred from Sequence Orthology
    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of chaperone-mediated autophagy ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of neurotransmitter uptake IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in astrocyte end-foot IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in astrocyte projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in astrocyte projection ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    located_in cell body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cell projection IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cell projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    located_in cytoplasmic side of lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasmic side of lysosomal membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in glial cell projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in intermediate filament IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in intermediate filament IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intermediate filament cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in myelin sheath HDA PubMed 

    General protein information

    Preferred Names
    glial fibrillary acidic protein
    Names
    intermediate filament protein

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_001131020.1NP_001124492.1  glial fibrillary acidic protein isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK140151, BC139357, BU700210
      Consensus CDS
      CCDS48950.1
      UniProtKB/Swiss-Prot
      P03995
      Related
      ENSMUSP00000077061.5, ENSMUST00000077902.5
      Conserved Domains (2) summary
      pfam00038
      Location:65373
      Filament; Intermediate filament protein
      pfam04732
      Location:463
      Filament_head; Intermediate filament head (DNA binding) region
    2. NM_010277.3NP_034407.2  glial fibrillary acidic protein isoform 2

      See identical proteins and their annotated locations for NP_034407.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1, which results in a protein (isoform 2) with a shorter and distinct C-terminus when compared to isoform 1.
      Source sequence(s)
      AI835063, AK079577, BC139357, BE651678, CX223233
      Consensus CDS
      CCDS25507.1
      UniProtKB/Swiss-Prot
      A1E2H7, A2AH87, B2RTI7, P03995, Q09J71, Q3USS4, Q496R4, Q496S3, Q7TQ30, Q80VX6, Q925K2, Q925K3
      Related
      ENSMUSP00000064691.4, ENSMUST00000067444.10
      Conserved Domains (2) summary
      pfam00038
      Location:65373
      Filament; Intermediate filament protein
      pfam04732
      Location:463
      Filament_head; Intermediate filament head (DNA binding) region

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      102778162..102791368 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030245571.2XP_030101431.1  glial fibrillary acidic protein isoform X1

      Conserved Domains (2) summary
      pfam00038
      Location:65373
      Filament; Intermediate filament protein
      pfam04732
      Location:463
      Filament_head; Intermediate filament head (DNA binding) region

    RNA

    1. XR_388347.5 RNA Sequence