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NEFH neurofilament heavy [ Homo sapiens (human) ]

Gene ID: 4744, updated on 4-Nov-2018

Summary

Official Symbol
NEFHprovided by HGNC
Official Full Name
neurofilament heavyprovided by HGNC
Primary source
HGNC:HGNC:7737
See related
Ensembl:ENSG00000100285 MIM:162230; Vega:OTTHUMG00000151155
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

Genomic context

See NEFH in Genome Data Viewer
Location:
22q12.2
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (29480192..29491290)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (29876181..29887279)

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 THO complex 5 Neighboring gene nipsnap homolog 1

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Amyotrophic lateral sclerosis (ALS), organism-specific biosystem (from KEGG)
    Amyotrophic lateral sclerosis (ALS), organism-specific biosystemAmyotrophic lateral sclerosis (ALS) is a progressive, lethal, degenerative disorder of motor neurons. The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord...
  • Amyotrophic lateral sclerosis (ALS), organism-specific biosystem (from WikiPathways)
    Amyotrophic lateral sclerosis (ALS), organism-specific biosystemAmyotrophic lateral sclerosis (ALS) is a progressive, lethal, degenerative disorder of motor neurons. The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord...
  • Amyotrophic lateral sclerosis (ALS), conserved biosystem (from KEGG)
    Amyotrophic lateral sclerosis (ALS), conserved biosystemAmyotrophic lateral sclerosis (ALS) is a progressive, lethal, degenerative disorder of motor neurons. The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord...
  • Association Between Physico-Chemical Features and Toxicity Associated Pathways, organism-specific biosystem (from WikiPathways)
    Association Between Physico-Chemical Features and Toxicity Associated Pathways, organism-specific biosystemThis pathway is based on Figure 8 of "Mapping drug physico-chemical features to pathway activity reveals molecular networks linked to toxicity outcome."(See bibliography). These 3 pathways demonstr...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
dynein complex binding TAS
Traceable Author Statement
more info
PubMed 
kinesin binding TAS
Traceable Author Statement
more info
PubMed 
microtubule binding TAS
Traceable Author Statement
more info
PubMed 
protein binding, bridging ISS
Inferred from Sequence or Structural Similarity
more info
 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of cytoskeleton ISS
Inferred from Sequence or Structural Similarity
more info
 
structural constituent of postsynaptic intermediate filament cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
structural molecule activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
axon development IMP
Inferred from Mutant Phenotype
more info
PubMed 
axonogenesis TAS
Traceable Author Statement
more info
PubMed 
cell projection assembly TAS
Traceable Author Statement
more info
PubMed 
cellular response to leukemia inhibitory factor IEA
Inferred from Electronic Annotation
more info
 
microtubule cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
neurofilament bundle assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
neurofilament cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
peripheral nervous system neuron axonogenesis IEA
Inferred from Electronic Annotation
more info
 
postsynaptic intermediate filament cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
regulation of organelle transport along microtubule IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Schaffer collateral - CA1 synapse IEA
Inferred from Electronic Annotation
more info
 
axon TAS
Traceable Author Statement
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
myelin sheath IEA
Inferred from Electronic Annotation
more info
 
neurofibrillary tangle IDA
Inferred from Direct Assay
more info
PubMed 
neurofilament NAS
Non-traceable Author Statement
more info
PubMed 
postsynaptic density IEA
Inferred from Electronic Annotation
more info
 
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)

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
    5001..16099
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_021076.3NP_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
    P12036
    Related
    ENSP00000311997.6, OTTHUMP00000199266, ENST00000310624.6, OTTHUMT00000321553
    Conserved Domains (2) summary
    pfam00038
    Location:96412
    Filament; Intermediate filament protein
    pfam05466
    Location:513736
    BASP1; Brain acid soluble protein 1 (BASP1 protein)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

    Range
    29480192..29491290
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530200.2XP_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)
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