U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from Nucleotide

    • Showing Current items.

    Nefh neurofilament, heavy polypeptide [ Mus musculus (house mouse) ]

    Gene ID: 380684, updated on 27-Nov-2024

    Summary

    Official Symbol
    Nefhprovided by MGI
    Official Full Name
    neurofilament, heavy polypeptideprovided by MGI
    Primary source
    MGI:MGI:97309
    See related
    Ensembl:ENSMUSG00000020396 AllianceGenome:MGI:97309
    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
    Also known as
    Nfh; NF-H; NF200; mKIAA0845
    Summary
    A structural constituent of postsynaptic intermediate filament cytoskeleton. Involved in axon development and postsynaptic modulation of chemical synaptic transmission. Acts upstream of or within cellular response to leukemia inhibitory factor; cytoskeleton organization; and peripheral nervous system neuron axonogenesis. Located in axon; neurofilament; and postsynaptic density. Is active in Schaffer collateral - CA1 synapse and postsynaptic intermediate filament cytoskeleton. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2CC; amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 1; and monoclonal gammopathy of uncertain significance. Orthologous to human NEFH (neurofilament heavy chain). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in cerebellum adult (RPKM 61.2), cortex adult (RPKM 8.9) and 1 other tissue See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Nefh in Genome Data Viewer
    Location:
    11 A1; 11 3.12 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (4888754..4898064, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (4938754..4948064, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene nipsnap homolog 1 Neighboring gene microRNA 6918 Neighboring gene THO complex 5 Neighboring gene ribosomal protein L17 pseudogene Neighboring gene predicted gene, 35321 Neighboring gene STARR-seq mESC enhancer starr_28417 Neighboring gene adaptor protein complex AP-1, beta 1 subunit Neighboring gene STARR-positive B cell enhancer ABC_E5205 Neighboring gene predicted gene, 24958 Neighboring gene growth arrest-specific 2 like 1 Neighboring gene RAS-like, family 10, member A

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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)
    • Endonuclease-mediated (6) 
    • Targeted (7)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in axon development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in axon development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in axon development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in axon regeneration ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within cellular response to leukemia inhibitory factor IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in intermediate filament bundle assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within intermediate filament bundle assembly IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in intermediate filament bundle assembly ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within intermediate filament cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within microtubule cytoskeleton organization IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in neurofilament bundle assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neurofilament bundle assembly ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within neurofilament cytoskeleton organization IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within neurofilament cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ovarian follicle atresia ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within peripheral nervous system neuron axonogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in postsynaptic intermediate filament cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in postsynaptic modulation of chemical synaptic transmission IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in postsynaptic modulation of chemical synaptic transmission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of organelle transport along microtubule IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of organelle transport along microtubule ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to sodium arsenite ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    is_active_in Schaffer collateral - CA1 synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in Schaffer collateral - CA1 synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in apical dendrite ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in axon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in axon ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    located_in basal proximal dendrite ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
     
    located_in intermediate filament ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrion HDA PubMed 
    located_in myelin sheath HDA PubMed 
    located_in neurofibrillary tangle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in neurofibrillary tangle ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in neurofilament IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in neurofilament IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuronal cell body ISO
    Inferred from Sequence Orthology
    more info
     
    located_in perikaryon ISO
    Inferred from Sequence Orthology
    more info
     
    located_in postsynaptic density IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in postsynaptic intermediate filament cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    neurofilament heavy polypeptide
    Names
    200 kDa neurofilament protein
    neurofilament 200kDa
    neurofilament triplet H 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_010904.3NP_035034.2  neurofilament heavy polypeptide

      See identical proteins and their annotated locations for NP_035034.2

      Status: VALIDATED

      Source sequence(s)
      AK122388, AL645522, BQ174087, CO426942
      Consensus CDS
      CCDS36099.1
      UniProtKB/Swiss-Prot
      A1E2H9, P19246, Q5SVF6, Q61959
      UniProtKB/TrEMBL
      Q80TQ3
      Related
      ENSMUSP00000091061.5, ENSMUST00000093369.5
      Conserved Domains (3) summary
      pfam00038
      Location:94410
      Filament; Intermediate filament protein
      pfam02063
      Location:529819
      MARCKS; MARCKS family
      pfam07142
      Location:531557
      DUF1388; Repeat of unknown function (DUF1388)

    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
      4888754..4898064 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)