U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    Nefh neurofilament heavy chain [ Rattus norvegicus (Norway rat) ]

    Gene ID: 24587, updated on 9-Dec-2024

    Summary

    Official Symbol
    Nefhprovided by RGD
    Official Full Name
    neurofilament heavy chainprovided by RGD
    Primary source
    RGD:3159
    See related
    EnsemblRapid:ENSRNOG00000008716 AllianceGenome:RGD:3159
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Nfh
    Summary
    Enables protein-macromolecule adaptor activity and toxic substance binding activity. A structural constituent of cytoskeleton. Involved in several processes, including cellular response to estradiol stimulus; nervous system development; and ovarian follicle atresia. Located in several cellular components, including dendrite; intermediate filament; and perikaryon. Used to study congenital hypothyroidism. Biomarker of glaucoma; hypothyroidism; phenylketonuria; sciatic neuropathy; and transient cerebral ischemia. 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, Dec 2024]
    Expression
    Biased expression in Brain (RPKM 299.3), Adrenal (RPKM 66.6) and 2 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Nefh in Genome Data Viewer
    Location:
    14q21
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 14 NC_086032.1 (84044428..84054413, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 14 NC_051349.1 (79830362..79840347, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 14 NC_005113.4 (85181572..85191557, complement)

    Chromosome 14 - NC_086032.1Genomic Context describing neighboring genes Neighboring gene U7 small nuclear RNA Neighboring gene U7 small nuclear RNA Neighboring gene adaptor related protein complex 1 subunit beta 1 Neighboring gene uncharacterized LOC134481867 Neighboring gene small nucleolar RNA, C/D box 125

    Genomic regions, transcripts, and products

    Expression

    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by RGD

    Process Evidence Code Pubs
    involved_in axon development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in axon development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in axon regeneration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to estradiol stimulus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cellular response to hydroperoxide IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    acts_upstream_of_or_within cellular response to leukemia inhibitory factor ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to oxidative stress IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cerebral cortex development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in hippocampus development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in intermediate filament bundle assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intermediate filament bundle assembly IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within intermediate filament bundle assembly ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within intermediate filament cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within microtubule cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in neurofilament bundle assembly ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within neurofilament cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in neuron projection development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in ovarian follicle atresia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within peripheral nervous system neuron axonogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in postsynaptic intermediate filament cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in postsynaptic modulation of chemical synaptic transmission ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of organelle transport along microtubule ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to acrylamide IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in response to cocaine IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in response to sodium arsenite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in spinal cord development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in Schaffer collateral - CA1 synapse ISO
    Inferred from Sequence Orthology
    more info
     
    located_in apical dendrite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
     
    located_in basal proximal dendrite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
     
    located_in intermediate filament IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intermediate filament 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 ISO
    Inferred from Sequence Orthology
    more info
     
    located_in neuronal cell body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perikaryon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in postsynaptic density ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in postsynaptic intermediate filament cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    neurofilament heavy polypeptide
    Names
    200 kDa neurofilament protein
    NF-H
    neurofilament triplet H protein
    neurofilament, heavy polypeptide

    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_012607.2NP_036739.2  neurofilament heavy polypeptide

      Status: VALIDATED

      Source sequence(s)
      CB582861, CB585094, JAXUCZ010000014
      UniProtKB/TrEMBL
      F1LRZ7
      Related
      ENSRNOP00000011604.4, ENSRNOT00000011604.6
      Conserved Domains (4) summary
      pfam00038
      Location:96412
      Filament; Intermediate filament protein
      pfam06136
      Location:664807
      DUF966; Domain of unknown function (DUF966)
      pfam07142
      Location:726752
      DUF1388; Repeat of unknown function (DUF1388)
      pfam11679
      Location:500571
      DUF3275; Protein of unknown function (DUF3275)

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086032.1 Reference GRCr8

      Range
      84044428..84054413 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)