NEFM

NEFM
Identifiers
Aliases	NEFM, NEF3, NF-M, NFM, neurofilament, medium polypeptide, neurofilament medium, neurofilament medium chain
External IDs	OMIM: 162250; MGI: 97314; HomoloGene: 38041; GeneCards: NEFM; OMA:NEFM - orthologs
Gene location (Human) Chr. Chromosome 8 (human) Band 8p21.2 Start 24,913,758 bp End 24,919,098 bp
Gene location (Mouse) Chr. Chromosome 14 (mouse) Band 14|14 D1 Start 68,320,039 bp End 68,362,295 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in spinal ganglia lateral nuclear group of thalamus pons middle temporal gyrus Brodmann area 23 endothelial cell superior vestibular nucleus pars compacta primary visual cortex frontal pole Top expressed in anterior horn of spinal cord superior cervical ganglion deep cerebellar nuclei facial motor nucleus trigeminal ganglion pontine nuclei medial vestibular nucleus dorsal tegmental nucleus motor neuron lateral geniculate nucleus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function microtubule binding structural constituent of cytoskeleton protein binding structural molecule activity Cellular component neurofibrillary tangle axon intermediate filament neurofilament intermediate filament cytoskeleton Biological process neurofilament bundle assembly axon development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4741 18040 Ensembl ENSG00000104722 ENSMUSG00000022054 UniProt P07197 P08553 RefSeq (mRNA) NM_005382 NM_001105541 NM_008691 RefSeq (protein) NP_001099011 NP_005373 NP_032717 Location (UCSC) Chr 8: 24.91 – 24.92 Mb Chr 14: 68.32 – 68.36 Mb PubMed search
Wikidata
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Neurofilament medium polypeptide (NF-M) is a protein that in humans is encoded by the NEFM gene.

Function

Neurofilaments are type IV intermediate filament heteropolymers composed of light (NEFL), medium (this protein), and heavy (NEFH) 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.

Further reading

• Xu ZS, Liu WS, Willard MB (1992). "Identification of six phosphorylation sites in the COOH-terminal tail region of the rat neurofilament protein M.". J. Biol. Chem. 267 (7): 4467–71. PMID 1537832.
• Lee VM, Otvos L, Carden MJ, et al. (1988). "Identification of the major multiphosphorylation site in mammalian neurofilaments". Proc. Natl. Acad. Sci. U.S.A. 85 (6): 1998–2002. doi:10.1073/pnas.85.6.1998. PMC 279909. PMID 2450354.
• Chin TK, Harding SE, Eagles PA (1990). "Characterization of two proteolytically derived soluble polypeptides from the neurofilament triplet components NFM and NFH". Biochem. J. 264 (1): 53–60. PMC 1133546. PMID 2557834.
• Myers MW, Lazzarini RA, Lee VM, et al. (1987). "The human mid-size neurofilament subunit: a repeated protein sequence and the relationship of its gene to the intermediate filament gene family". EMBO J. 6 (6): 1617–26. PMC 553533. PMID 3608989.
• Tu PH, Elder G, Lazzarini RA, et al. (1995). "Overexpression of the human NFM subunit in transgenic mice modifies the level of endogenous NFL and the phosphorylation state of NFH subunits". J. Cell Biol. 129 (6): 1629–40. doi:10.1083/jcb.129.6.1629. PMC 2291190. PMID 7790359.
• Robertson NG, Khetarpal U, Gutiérrez-Espeleta GA, et al. (1995). "Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening". Genomics. 23 (1): 42–50. doi:10.1006/geno.1994.1457. PMID 7829101.
• Dong DL, Xu ZS, Chevrier MR, et al. (1993). "Glycosylation of mammalian neurofilaments. Localization of multiple O-linked N-acetylglucosamine moieties on neurofilament polypeptides L and M.". J. Biol. Chem. 268 (22): 16679–87. PMID 8344946.
• Fleming LM, Weisgraber KH, Strittmatter WJ, et al. (1996). "Differential binding of apolipoprotein E isoforms to tau and other cytoskeletal proteins". Exp. Neurol. 138 (2): 252–60. doi:10.1006/exnr.1996.0064. PMID 8620924.
• Dong DL, Xu ZS, Hart GW, Cleveland DW (1996). "Cytoplasmic O-GlcNAc modification of the head domain and the KSP repeat motif of the neurofilament protein neurofilament-H". J. Biol. Chem. 271 (34): 20845–52. doi:10.1074/jbc.271.34.20845. PMID 8702840.{{cite journal}}: CS1 maint: unflagged free DOI (link)
• Veeranna GJ, Shetty KT, Takahashi M, et al. (2000). "Cdk5 and MAPK are associated with complexes of cytoskeletal proteins in rat brain". Brain Res. Mol. Brain Res. 76 (2): 229–36. doi:10.1016/S0169-328X(00)00003-6. PMID 10762698.
• Taylor JP, Sater R, French J, et al. (2002). "Transcription of intermediate filament genes is enhanced in focal cortical dysplasia". Acta Neuropathol. 102 (2): 141–8. doi:10.1007/s004010000348. PMID 11563628.
• Wang Y, Wang Q, Wang J (2002). "[Detection of level and mutation of neurofilament mRNA in Alzheimer's disease]". Zhonghua Yi Xue Za Zhi. 82 (8): 519–22. PMID 12133495.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Bhaskar K, Shareef MM, Sharma VM, et al. (2003). "Co-purification and localization of Munc18-1 (p67) and Cdk5 with neuronal cytoskeletal proteins". Neurochem. Int. 44 (1): 35–44. doi:10.1016/S0197-0186(03)00099-8. PMID 12963086.
• Krüger R, Fischer C, Schulte T, et al. (2004). "Mutation analysis of the neurofilament M gene in Parkinson's disease". Neurosci. Lett. 351 (2): 125–9. doi:10.1016/S0304-3940(03)00903-0. PMID 14583397.
• Garcia ML, Lobsiger CS, Shah SB, et al. (2004). "NF-M is an essential target for the myelin-directed "outside-in" signaling cascade that mediates radial axonal growth". J. Cell Biol. 163 (5): 1011–20. doi:10.1083/jcb.200308159. PMC 2173620. PMID 14662745.
• Perez-Olle R, Lopez-Toledano MA, Liem RK (2004). "The G336S variant in the human neurofilament-M gene does not affect its assembly or distribution: importance of the functional analysis of neurofilament variants". J. Neuropathol. Exp. Neurol. 63 (7): 759–74. PMID 15290901.
• Suzuki Y, Yamashita R, Shirota M, et al. (2004). "Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions". Genome Res. 14 (9): 1711–8. doi:10.1101/gr.2435604. PMC 515316. PMID 15342556.
• DeGiorgis JA, Jaffe H, Moreira JE, et al. (2005). "Phosphoproteomic analysis of synaptosomes from human cerebral cortex". J. Proteome Res. 4 (2): 306–15. doi:10.1021/pr0498436. PMID 15822905.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.