NEFM: Difference between revisions
Jump to navigation
Jump to search
m (Robot: Automated text replacement (-{{WikiDoc Cardiology Network Infobox}} +, -<references /> +{{reflist|2}}, -{{reflist}} +{{reflist|2}})) |
m (Bot: HTTP→HTTPS) |
||
Line 1: | Line 1: | ||
< | {{Infobox_gene}} | ||
{{ | '''Neurofilament medium polypeptide''' (NF-M) is a [[protein]] that in humans is encoded by the ''NEFM'' [[gene]].<ref name="pmid1348579">{{cite journal | vauthors = Ding Y, Reed DR, Baltazar MC, Price RA | title = RFLP for BgI II at the human neurofilament medium chain (NEF3) gene locus | journal = Nucleic Acids Res | volume = 20 | issue = 6 | pages = 1429 |date=May 1992 | pmid = 1348579 | pmc = 312205 | doi =10.1093/nar/20.6.1429-a }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: NEFM neurofilament, medium polypeptide 150kDa| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4741| accessdate = }}</ref> | ||
| | |||
| | |||
| | |||
}} | |||
== Function == | |||
[[Neurofilament]]s 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 [[axon]]s and [[dendrite]]s. This gene encodes the medium neurofilament protein. This protein is commonly used as a [[biomarker]] of neuronal damage.<ref name="entrez"/> | |||
==References== | ==References== | ||
{{reflist | {{reflist}} | ||
==Further reading== | ==Further reading== | ||
{{refbegin | 2}} | {{refbegin | 2}} | ||
*{{cite journal | vauthors=Xu ZS, Liu WS, Willard MB |title=Identification of six phosphorylation sites in the COOH-terminal tail region of the rat neurofilament protein M. |journal=J. Biol. Chem. |volume=267 |issue= 7 |pages= 4467–71 |year= 1992 |pmid= 1537832 |doi= }} | |||
*{{cite journal |vauthors=Lee VM, Otvos L, Carden MJ, etal |title=Identification of the major multiphosphorylation site in mammalian neurofilaments. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=85 |issue= 6 |pages= 1998–2002 |year= 1988 |pmid= 2450354 |doi=10.1073/pnas.85.6.1998 | pmc=279909 }} | |||
*{{cite journal | | *{{cite journal | vauthors=Chin TK, Harding SE, Eagles PA |title=Characterization of two proteolytically derived soluble polypeptides from the neurofilament triplet components NFM and NFH. |journal=Biochem. J. |volume=264 |issue= 1 |pages= 53–60 |year= 1990 |pmid= 2557834 |doi= | pmc=1133546 }} | ||
*{{cite journal | *{{cite journal |vauthors=Myers MW, Lazzarini RA, Lee VM, etal |title=The human mid-size neurofilament subunit: a repeated protein sequence and the relationship of its gene to the intermediate filament gene family. |journal=EMBO J. |volume=6 |issue= 6 |pages= 1617–26 |year= 1987 |pmid= 3608989 |doi= | pmc=553533 }} | ||
*{{cite journal | | *{{cite journal |vauthors=Tu PH, Elder G, Lazzarini RA, etal |title=Overexpression of the human NFM subunit in transgenic mice modifies the level of endogenous NFL and the phosphorylation state of NFH subunits. |journal=J. Cell Biol. |volume=129 |issue= 6 |pages= 1629–40 |year= 1995 |pmid= 7790359 |doi=10.1083/jcb.129.6.1629 | pmc=2291190 }} | ||
*{{cite journal | *{{cite journal |vauthors=Robertson NG, Khetarpal U, Gutiérrez-Espeleta GA, etal |title=Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening. |journal=Genomics |volume=23 |issue= 1 |pages= 42–50 |year= 1995 |pmid= 7829101 |doi= 10.1006/geno.1994.1457 }} | ||
*{{cite journal | *{{cite journal |vauthors=Dong DL, Xu ZS, Chevrier MR, etal |title=Glycosylation of mammalian neurofilaments. Localization of multiple O-linked N-acetylglucosamine moieties on neurofilament polypeptides L and M. |journal=J. Biol. Chem. |volume=268 |issue= 22 |pages= 16679–87 |year= 1993 |pmid= 8344946 |doi= }} | ||
*{{cite journal | *{{cite journal |vauthors=Fleming LM, Weisgraber KH, Strittmatter WJ, etal |title=Differential binding of apolipoprotein E isoforms to tau and other cytoskeletal proteins. |journal=Exp. Neurol. |volume=138 |issue= 2 |pages= 252–60 |year= 1996 |pmid= 8620924 |doi= 10.1006/exnr.1996.0064 }} | ||
*{{cite journal | *{{cite journal | vauthors=Dong DL, Xu ZS, Hart GW, Cleveland DW |title=Cytoplasmic O-GlcNAc modification of the head domain and the KSP repeat motif of the neurofilament protein neurofilament-H. |journal=J. Biol. Chem. |volume=271 |issue= 34 |pages= 20845–52 |year= 1996 |pmid= 8702840 |doi=10.1074/jbc.271.34.20845 }} | ||
*{{cite journal | *{{cite journal | vauthors=Veeranna GJ, Shetty KT, Takahashi M|title=Cdk5 and MAPK are associated with complexes of cytoskeletal proteins in rat brain. |journal=Brain Res. Mol. Brain Res. |volume=76 |issue= 2 |pages= 229–36 |year= 2000 |pmid= 10762698 |doi=10.1016/S0169-328X(00)00003-6 |display-authors=etal}} | ||
*{{cite journal | | *{{cite journal |vauthors=Taylor JP, Sater R, French J, etal |title=Transcription of intermediate filament genes is enhanced in focal cortical dysplasia. |journal=Acta Neuropathol. |volume=102 |issue= 2 |pages= 141–8 |year= 2002 |pmid= 11563628 |doi= 10.1007/s004010000348 }} | ||
*{{cite journal | | *{{cite journal | vauthors=Wang Y, Wang Q, Wang J |title=[Detection of level and mutation of neurofilament mRNA in Alzheimer's disease] |journal=Zhonghua Yi Xue Za Zhi |volume=82 |issue= 8 |pages= 519–22 |year= 2002 |pmid= 12133495 |doi= }} | ||
*{{cite journal | *{{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }} | ||
*{{cite journal | | *{{cite journal |vauthors=Bhaskar K, Shareef MM, Sharma VM, etal |title=Co-purification and localization of Munc18-1 (p67) and Cdk5 with neuronal cytoskeletal proteins. |journal=Neurochem. Int. |volume=44 |issue= 1 |pages= 35–44 |year= 2003 |pmid= 12963086 |doi=10.1016/S0197-0186(03)00099-8 }} | ||
*{{cite journal | *{{cite journal |vauthors=Krüger R, Fischer C, Schulte T, etal |title=Mutation analysis of the neurofilament M gene in Parkinson's disease. |journal=Neurosci. Lett. |volume=351 |issue= 2 |pages= 125–9 |year= 2004 |pmid= 14583397 |doi=10.1016/S0304-3940(03)00903-0 }} | ||
*{{cite journal | *{{cite journal |vauthors=Garcia ML, Lobsiger CS, Shah SB, etal |title=NF-M is an essential target for the myelin-directed "outside-in" signaling cascade that mediates radial axonal growth. |journal=J. Cell Biol. |volume=163 |issue= 5 |pages= 1011–20 |year= 2004 |pmid= 14662745 |doi= 10.1083/jcb.200308159 | pmc=2173620 }} | ||
*{{cite journal | *{{cite journal | vauthors=Perez-Olle R, Lopez-Toledano MA, Liem RK |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. |journal=J. Neuropathol. Exp. Neurol. |volume=63 |issue= 7 |pages= 759–74 |year= 2004 |pmid= 15290901 |doi= }} | ||
*{{cite journal | *{{cite journal |vauthors=Suzuki Y, Yamashita R, Shirota M, etal |title=Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. |journal=Genome Res. |volume=14 |issue= 9 |pages= 1711–8 |year= 2004 |pmid= 15342556 |doi= 10.1101/gr.2435604 | pmc=515316 }} | ||
*{{cite journal | | *{{cite journal |vauthors=DeGiorgis JA, Jaffe H, Moreira JE, etal |title=Phosphoproteomic analysis of synaptosomes from human cerebral cortex. |journal=J. Proteome Res. |volume=4 |issue= 2 |pages= 306–15 |year= 2005 |pmid= 15822905 |doi= 10.1021/pr0498436 }} | ||
*{{cite journal | |||
*{{cite journal | |||
}} | |||
{{refend}} | {{refend}} | ||
{{ | {{Cytoskeletal proteins}} | ||
{{ | {{NLM content}} | ||
[[Category:Human proteins]] | |||
{{gene-8-stub}} |
Latest revision as of 12:49, 5 September 2017
VALUE_ERROR (nil) | |||||||
---|---|---|---|---|---|---|---|
Identifiers | |||||||
Aliases | |||||||
External IDs | GeneCards: [1] | ||||||
Orthologs | |||||||
Species | Human | Mouse | |||||
Entrez |
|
| |||||
Ensembl |
|
| |||||
UniProt |
|
| |||||
RefSeq (mRNA) |
|
| |||||
RefSeq (protein) |
|
| |||||
Location (UCSC) | n/a | n/a | |||||
PubMed search | n/a | n/a | |||||
Wikidata | |||||||
|
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
- ↑ 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.
- ↑ 2.0 2.1 "Entrez Gene: NEFM neurofilament, medium polypeptide 150kDa".
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 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.
This article on a gene on human chromosome 8 is a stub. You can help Wikipedia by expanding it. |