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    NEFH neurofilament heavy chain [ Homo sapiens (human) ]

    Gene ID: 4744, updated on 17-Jun-2024

    Summary

    Official Symbol
    NEFHprovided by HGNC
    Official Full Name
    neurofilament heavy chainprovided by HGNC
    Primary source
    HGNC:HGNC:7737
    See related
    Ensembl:ENSG00000100285 MIM:162230; AllianceGenome:HGNC:7737
    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
    NFH; CMT2CC
    Summary
    Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene. [provided by RefSeq, Oct 2008]
    Expression
    Biased expression in prostate (RPKM 140.1), brain (RPKM 16.4) and 2 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See NEFH in Genome Data Viewer
    Location:
    22q12.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (29480218..29491390)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (29943567..29954761)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (29876207..29887379)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ret finger protein like 1 Neighboring gene RFPL1 antisense RNA 1 Neighboring gene uncharacterized LOC107985541 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29856012-29856563 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29859341-29859868 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29859869-29860396 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29866133-29866633 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29874167-29874668 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29877229-29878083 Neighboring gene THO complex subunit 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29947869-29948568 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13592 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:29949966-29950663 Neighboring gene nipsnap homolog 1 Neighboring gene Sharpr-MPRA regulatory region 2653 Neighboring gene Sharpr-MPRA regulatory region 10387 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29976263-29976875 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13593

    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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dynein complex binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables kinesin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables microtubule binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-macromolecule adaptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables structural constituent of cytoskeleton IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables structural constituent of cytoskeleton ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables structural constituent of postsynaptic intermediate filament cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in Schaffer collateral - CA1 synapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in axon TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neurofibrillary tangle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in neurofilament IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in neurofilament NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
     
    located_in postsynaptic intermediate filament cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

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

    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.

    Genomic

    1. NG_008404.1 RefSeqGene

      Range
      5027..16199
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_021076.4NP_066554.2  neurofilament heavy polypeptide

      See identical proteins and their annotated locations for NP_066554.2

      Status: REVIEWED

      Source sequence(s)
      AC000035, AF203032
      Consensus CDS
      CCDS13858.1
      UniProtKB/Swiss-Prot
      B4DYY4, P12036, Q96HF8, Q9UJS7, Q9UQ14
      Related
      ENSP00000311997.6, ENST00000310624.7
      Conserved Domains (2) summary
      PTZ00121
      Location:2901014
      PTZ00121; MAEBL; Provisional
      pfam00038
      Location:96412
      Filament; Intermediate filament protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      29480218..29491390
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530200.3XP_011528502.1  neurofilament heavy polypeptide isoform X1

      Conserved Domains (2) summary
      pfam00038
      Location:96412
      Filament; Intermediate filament protein
      pfam07142
      Location:536562
      DUF1388; Repeat of unknown function (DUF1388)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      29943567..29954761
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)