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NEFM

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Neurofilament, medium polypeptide 150kDa
Identifiers
Symbols NEFM; NEF3; NF-M; NFM
External IDs OMIM: 162250 MGI: 97314 HomoloGene: 38041 GeneCards: NEFM Gene
RNA expression pattern
PBB GE NEFM 205113 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 4741 18040
Ensembl ENSG00000104722 ENSMUSG00000022054
UniProt P07197 Q0VDM8
RefSeq (mRNA) NM_005382 NM_008691
RefSeq (protein) NP_005373 NP_032717
Location (UCSC) Chr 8:
24.83 - 24.83 Mb		 Chr 14:
67.07 - 67.08 Mb
PubMed search [1] [2]

Neurofilament medium polypeptide (NF-M) is a protein that in humans is encoded by the NEFM gene.[1][2]

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.[2]

References

  1. ^ Ding Y, Reed DR, Baltazar MC, Price RA (May 1992). "RFLP for BgI II at the human neurofilament medium chain (NEF3) gene locus". Nucleic Acids Res 20 (6): 1429. doi:10.1093/nar/20.6.1429-a. PMC 312205. PMID 1348579. 
  2. ^ a b "Entrez Gene: NEFM neurofilament, medium polypeptide 150kDa". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4741. 

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. 
  • Veeranna , 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. 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. 
v · d · eProteins of the cytoskeleton
Human
A1, A2, B, C1, G1, G2
I (MYO1A, MYO1B, MYO1C, MYO1D, MYO1E, MYO1F, MYO1G, MYO1H) · II (MYH1, MYH2, MYH3, MYH4, MYH6, MYH7, MYH7B, MYH8, MYH9, MYH10, MYH11, MYH13, MYH14, MYH15, MYH16) · III (MYO3A, MYO3B) · V (MYO5A, MYO5B, MYO5C) · VI (MYO6) · VII (MYO7A, MYO7B) · IX (MYO9A, MYO9B) · X (MYO10) · XV (MYO15A) · XVIII (MYO18A, MYO18B) · LC (MYL1, MYL2, MYL3, MYL4, MYL5, MYL6, MYL6B, MYL7, MYL9, MYLIP, MYLK, MYLK2, MYLL1)
Other

Tropomodulin (1, 2, 3, 4) · Troponin (T 1 2 3, C 1 2, I 1 2 3) · Tropomyosin (1, 2, 3, 4)

Actinin (1, 2, 3, 4) · Arp2/3 complex · actin depolymerizing factors (Cofilin (1, 2) · Destrin) · Gelsolin · Profilin (1, 2) · Titin
Other
Wiskott-Aldrich syndrome protein · Fibrillin · Filamin (FLNA, FLNB, FLNC) · Espin · TRIOBP
Type 1/2
(Keratin,
Cytokeratin)
Epithelial keratins
(soft alpha-keratins)

type I/chromosome 17 (10, 12, 13, 14, 15, 16, 17, 19, 20) · chromosome 12 (18) · none (21)

type II/chromosome 12 (1, 2A, 3, 4, 5, 6A, 6B, 7, 8, 9)
Hair keratins
(hard alpha-keratins)
Ungrouped alpha
Not alpha
Type 3
Type 4
Type 5
KIF1A, KIF1B, KIF2A, KIF2C, KIF3B, KIF3C, KIF4A, KIF4B, KIF5A, KIF5B, KIF5C, KIF6, KIF7, KIF9, KIF11, KIF12, KIF13A, KIF13B, KIF14, KIF15, KIF16B, KIF17, KIF18A, KIF18B, KIF19, KIF20A, KIF20B, KIF21A, KIF21B, KIF22, KIF23, KIF24, KIF25, KIF26A, KIF26B, KIF27, KIFC1, KIFC2, KIFC3

axonemal: DNAH1, DNAH2, DNAH3, DNAH5, DNAH6, DNAH7, DNAH8, DNAH9, DNAH10, DNAH11, DNAH12, DNAH13, DNAH14, DNAH17, DNAI1, DNAI2, DNALI1, DNAL1, DNAL4

cytoplasmic: DYNC1H1, DYNC2H1, DYNC1I1, DYNC1I2, DYNC1LI1, DYNC1LI2, DYNC2LI1, DYNLL1, DYNLL2, DYNLRB1, DYNLRB2, DYNLT1, DYNLT3
Other
Tau protein · Dynactin (DCTN1) · Tubulins (TUBA1A, TUBA1B, TUBA1C, TUBA3C, TUBA3D, TUBA3E, TUBA4A, TUBA8) · Stathmin · Tektin (TEKT1, TEKT2, TEKT3, TEKT4, TEKT5) · Dynamin (DNM1, DNM2, DNM3)
Other
Nonhuman
see also cytoskeletal defects
B strc: edmb (perx), skel (ctrs), epit, cili, mito, nucl (chro)

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