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    NEFM neurofilament, medium polypeptide [ Homo sapiens (human) ]

    Gene ID: 4741, updated on 5-May-2013
    Official Symbol
    NEFMprovided by HGNC
    Official Full Name
    neurofilament, medium polypeptideprovided by HGNC
    Primary source
    HGNC:7734
    See related
    Ensembl:ENSG00000104722; HPRD:01205; MIM:162250; Vega:OTTHUMG00000131990
    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]
    Location :
    8p21
    Sequence :
    Chromosome: 8; NC_000008.10 (24771274..24776606)
    See NEFM in Epigenomics, MapViewer

    Chromosome 8 - NC_000008.10Genomic Context describing neighboring genes Neighboring gene ADAM metallopeptidase domain 7 Neighboring gene uncharacterized LOC100507207 Neighboring gene neurofilament, light polypeptide Neighboring gene ependymin related protein 1 (zebrafish) pseudogene

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Association of connexin43 with E3 ubiquitin ligase TRIM21 reveals a mechanism for gap junction phosphodegron control. Chen VC, et al. J Proteome Res, 2012 Dec 7. PMID 23106098.
    2. Functional proteomics establishes the interaction of SIRT7 with chromatin remodeling complexes and expands its role in regulation of RNA polymerase I transcription. Tsai YC, et al. Mol Cell Proteomics, 2012 May. PMID 22586326.
    3. Functional dissection of lysine deacetylases reveals that HDAC1 and p300 regulate AMPK. Lin YY, et al. Nature, 2012 Feb 8. PMID 22318606.
    4. HIV-1 Tat protein promotes neuronal dysfunction through disruption of microRNAs. Chang JR, et al. J Biol Chem, 2011 Nov 25. PMID 21956116.
    5. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.

    See all (43) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. direct evidence that NF-M/H are hyperphosphorylated in Alzheimer disease
      Title: Quantitative phosphoproteomic analysis of neuronal intermediate filament proteins (NF-M/H) in Alzheimer's disease by iTRAQ.
    2. the importance of alpha-internexin and NF-L in regulating the conformations of NF-M and NF-H
      Title: How the projection domains of NF-L and alpha-internexin determine the conformations of NF-M and NF-H in neurofilaments.
    3. This protein has been found differentially expressed in thalami from patients with schizophrenia.
      Title: Proteome analysis of the thalamus and cerebrospinal fluid reveals glycolysis dysfunction and potential biomarkers candidates for schizophrenia.
    4. This protein has been found differentially expressed in the anterior cingulate cortex from patients with schizophrenia
      Title: Sex-specific proteome differences in the anterior cingulate cortex of schizophrenia.
    5. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Human variation in alcohol response is influenced by variation in neuronal signaling genes.
    6. This protein has been found differentially expressed in the temporal lobe from patients with schizophrenia.
      Title: Alterations in oligodendrocyte proteins, calcium homeostasis and new potential markers in schizophrenia anterior temporal lobe are revealed by shotgun proteome analysis.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association of the dopamine receptor interacting protein gene, NEF3, with early response to antipsychotic medication.
    8. mutations in neurofilaments are possible risk factors that may contribute to pathogenesis in amytrophic lateral sclerosis in conjunction with one or more additional genetic or environmental factors, but are not significant primary causes
      Title: Mutations in neurofilament genes are not a significant primary cause of non-SOD1-mediated amyotrophic lateral sclerosis.
    9. variation in NEF3 influence rate of response to typical antipsychotic medication
      Title: Association of the dopamine receptor interacting protein gene, NEF3, with early response to antipsychotic medication.
    10. The G336S variant of hNF-M does not affect the formation of IF networks nor the distribution of the variant hNFM protein. If the G336S variant is involved in the development of PD, it isn't due to defects in the assembly and distribution of NFs.
      Title: The G336S variant in the human neurofilament-M gene does not affect its assembly or distribution: importance of the functional analysis of neurofilament variants.
    Submit: New GeneRIF Correction See all (13)

    Review eQTL and phenotype association data in this region using PheGenI

    Protein Gene Interaction Pubs
    Tat, p14 tat HIV-1 Tat modulates NEFM expression in neuron cells PubMed
    Vpr, p15 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 Protein Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description
    P07197 P02649 APOE    HPRD  PubMed  
    P07197 Q8N4C8 MINK1    HPRD  PubMed  
    P07197 P12036 NEFH    HPRD  PubMed  
    P07197 P61764 STXBP1    HPRD  PubMed  
    BioGRID:110818 BioGRID:106845 APOE    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110818 BioGRID:118061 DISC1    BioGRID  PubMed Two-hybrid 
    BioGRID:110818 BioGRID:108964 GJA1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110818 BioGRID:109315 HDAC1    BioGRID  PubMed Negative Genetic 
    BioGRID:110818 BioGRID:115015 IQCB1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110818 BioGRID:111860 RB1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110818 BioGRID:116980 SIRT5    BioGRID  PubMed Positive Genetic 
    BioGRID:110818 BioGRID:119602 SIRT7    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110818 BioGRID:114397 SQSTM1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110818 BioGRID:116682 TNIK    BioGRID  PubMed Two-hybrid 
    BioGRID:110818 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    • 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), 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...

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		  
    structural constituent of cytoskeleton TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    axon cargo transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    intermediate filament bundle assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    microtubule cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    neurofilament cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of axon diameter IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    axon TAS
    Traceable Author Statement
    more info
    		 PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    neurofilament IEA
    Inferred from Electronic Annotation
    more info
    		  
    neuromuscular junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    neurofilament medium polypeptide
    Names
    neurofilament medium polypeptide
    neurofilament 3
    160 kDa neurofilament protein
    neurofilament triplet M protein
    neurofilament-3 (150 kD medium)
    neurofilament, medium polypeptide 150kDa

    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_001105541.1 → NP_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, OTTHUMP00000224887, ENST00000433454, OTTHUMT00000375487
      Conserved Domains (2) summary
      PTZ00121
      Location:228 – 315
      Blast Score: 91
      PTZ00121; MAEBL; Provisional
      pfam00038
      Location:1 – 35
      Blast Score: 212
      Filament; Intermediate filament protein

    2. NM_005382.2 → NP_005373.2  neurofilament medium polypeptide isoform 1

      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, OTTHUMP00000162831, ENST00000221166, OTTHUMT00000254954
      Conserved Domains (1) summary
      pfam00038
      Location:100 – 411
      Blast Score: 995
      Filament; Intermediate filament protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000008.10 Reference GRCh37.p10 Primary Assembly

      Range
      24771274..24776606
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000140.1 Alternate HuRef

      Range
      23315978..23321310
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018919.1 Alternate CHM1_1.0

      Range
      25025848..25031180
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01005553.1 (84924..90256) None
    genomic AF106564.3 (113838..119137) None
    genomic AMYH01018580.1 (170302..175634) None
    genomic CH471080.2 EAW63602.1
    genomic Y00067.1 CAA68276.1
    mRNA AF181990.1 AAF00492.1
    mRNA AK294681.1 BAG57843.1
    mRNA AK296226.1 BAG58949.1
    mRNA BC002421.2 None
    mRNA BC071752.1 None
    mRNA BC096757.1 AAH96757.1
    mRNA BI496345.1 None
    mRNA BP247321.1 None
    mRNA BP311096.1 None
    mRNA DC318935.1 None
    mRNA DC332005.1 None
    mRNA DC352660.1 None
    mRNA EF560736.1 ABQ59046.1
    mRNA EF560737.1 ABQ59047.1
    other-genetic GQ129242.1 ACT64376.1
    other-genetic GQ129243.1 ACT64377.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P07197.3 GenPept UniProtKB/Swiss-Prot:P07197

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • BioSystems
        BioSystems
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • GAP
        GAP Links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • SNP: VarView
        Related Clinical SNP
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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