NEFM

NEFM

Identifiers

NEFM, NEF3, NF-M, NFM, neurofilament, medium polypeptide, neurofilament medium, neurofilament medium chain

External IDs

OMIM: 162250 HomoloGene: 38041 GeneCards: NEFM

Gene location (Human)

Chr.	Chromosome 8 (human)^[1]

Band	8p21.2	Start	24,913,758 bp^[1]
Band	8p21.2	End	24,919,098 bp^[1]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

spinal ganglia

pons

middle temporal gyrus

Brodmann area 23

endothelial cell

superior vestibular nucleus

frontal pole

external globus pallidus

parietal lobe

Brodmann area 10

n/a

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


n/a

Ensembl


ENSG00000104722


n/a

UniProt


P07197


n/a

RefSeq (mRNA)


NM_005382 NM_001105541


n/a

RefSeq (protein)


NP_001099011 NP_005373


n/a

Location (UCSC)

Chr 8: 24.91 – 24.92 Mb

n/a

PubMed search

^[2]

n/a

Wikidata

View/Edit Human

Neurofilament medium polypeptide (NF-M) is a protein that in humans is encoded by the NEFM gene.^[3]^[4]

Function

Neurofilaments are type IV intermediate filament heteropolymers composed of light (NEFL), medium (this protein), and heavy (NEFH) chains. Neurofilaments comprise the exoskeleton 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.^[4]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000104722 - Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ ^a ^b "Entrez Gene: NEFM neurofilament, medium polypeptide 150kDa".

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. doi:10.1016/S0021-9258(18)42856-6. 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. Bibcode:1988PNAS...85.1998L. 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. doi:10.1042/bj2640053. 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. doi:10.1002/j.1460-2075.1987.tb02409.x. 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. doi:10.1016/S0021-9258(19)85471-6. 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. S2CID 46328348.
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. S2CID 23648593.
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. Bibcode:2002PNAS...9916899M. 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. S2CID 23783141.
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. S2CID 23425379.
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. doi:10.1093/jnen/63.7.759. 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.

Proteins of the cytoskeleton

Human

Microfilaments
and ABPs

Myofilament

Actins	A1 A2 B C1 G1 G2
Myosins	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

Intermediate
filaments

Type 1/2
(Keratin,
Cytokeratin)

Epithelial keratins (soft alpha-keratins)	type I/chromosome 17 9 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 6C 7 8
Hair keratins (hard alpha-keratins)	type I/chromosome 17 31 32 33A 33B 34 35 36 37 38 type II/chromosome 12 81 82 83 84 85 86
Ungrouped alpha	chromosome 17 23 24 25 26 27 28 39 40 chromosome 12 71 72 73 74 75 76 77 78 79 80
Not alpha	Beta-keratin

Type 3

Type 4

Type 5

Microtubules
and MAPs

Tubulins	TUBA1A TUBA1B TUBA1C TUBA3C TUBA3D TUBA3E TUBA4A TUBA8
Kinesins	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
Dyneins	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 Stathmin Tektin TEKT1 TEKT2 TEKT3 TEKT4 TEKT5 Dynamin DNM1 DNM2 DNM3

Catenins

Membrane

Dystrophin
- Dystroglycan
Utrophin
Ankyrin
- ANK1
- ANK2
- ANK3
Spectrin
- SPTA1
- SPTAN1
- SPTB
- SPTBN1
- SPTBN2
- SPTBN4
- SPTBN5

Other

Plakins
- Corneodesmosin
- Desmoplakin
- Dystonin
- Envoplakin
- MACF1
- Periplakin
- Plectin
Talin
- TLN1
Vinculin
Plakophilin
- PKP1
- PKP2

Nonhuman

See also: cytoskeletal defects

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

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This page was last edited on 30 January 2023, at 04:31

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Function

References

Further reading