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NEFM neurofilament medium [ Homo sapiens (human) ]

Gene ID: 4741, updated on 15-Apr-2019

Summary

Official Symbol
NEFMprovided by HGNC
Official Full Name
neurofilament mediumprovided by HGNC
Primary source
HGNC:HGNC:7734
See related
Ensembl:ENSG00000104722 MIM:162250
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
NFM; NEF3; NF-M
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 medium neurofilament protein. This protein is commonly used as a biomarker of neuronal damage. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
Expression
Biased expression in brain (RPKM 56.0), adrenal (RPKM 9.7) and 1 other tissue See more
Orthologs

Genomic context

See NEFM in Genome Data Viewer
Location:
8p21.2
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (24913761..24919093)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (24770712..24776607)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986882 Neighboring gene uncharacterized LOC105379329 Neighboring gene uncharacterized LOC112268023 Neighboring gene microRNA 6841 Neighboring gene neurofilament light

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 FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat modulates NEFM expression in neuron cells PubMed
Vpr vpr The RNA and protein levels of NEFM decreases in Vpr-treated human neurons compared to the untreated control PubMed

Go to the HIV-1, Human Interaction Database

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
microtubule binding TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
axon development IEA
Inferred from Electronic Annotation
more info
 
neurofilament bundle assembly TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
axon TAS
Traceable Author Statement
more info
PubMed 
intermediate filament cytoskeleton IDA
Inferred from Direct Assay
more info
 
neurofibrillary tangle IDA
Inferred from Direct Assay
more info
PubMed 
neurofilament IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
neurofilament medium polypeptide
Names
160 kDa neurofilament protein
neurofilament 3
neurofilament triplet M protein
neurofilament, medium polypeptide 150kDa
neurofilament-3 (150 kD medium)

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_008388.1 RefSeqGene

    Range
    5001..10333
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001105541.1NP_001099011.1  neurofilament medium polypeptide isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (2) has a shorter N-terminus when compared to isoform 1.
    Source sequence(s)
    AF106564, AF181990, BI496345, BP247321, DC318935, DC332005, DC352660
    Consensus CDS
    CCDS47831.1
    UniProtKB/TrEMBL
    Q9UK51
    Related
    ENSP00000412295.2, ENST00000433454.3
    Conserved Domains (2) summary
    PTZ00121
    Location:169488
    PTZ00121; MAEBL; Provisional
    pfam00038
    Location:135
    Filament; Intermediate filament protein
  2. NM_005382.2NP_005373.2  neurofilament medium polypeptide isoform 1

    See identical proteins and their annotated locations for NP_005373.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC071752, BC096757, BP311096
    Consensus CDS
    CCDS6046.1
    UniProtKB/Swiss-Prot
    P07197
    Related
    ENSP00000221166.5, ENST00000221166.10
    Conserved Domains (2) summary
    pfam00038
    Location:100411
    Filament; Intermediate filament protein
    pfam04732
    Location:1078
    Filament_head; Intermediate filament head (DNA binding) region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    24913761..24919093
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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