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neurofilament light polypeptide; NF-L; neurofilament triplet L protein; 68 kD neurofilament protein (NEFL, NF68, NFL)
Function:
- required subunit for neurofilament formation
- can form neurofilaments in association with neurofilament M or neurofilament H [3]
- role in the maintenance of neuronal caliber
- interacts with RGNEF (putative)
- can form homopolymeric 10-nm filaments
Structure:
- O-glycosylated (putative)
- belongs to the intermediate filament family
Pathology:
- defects in NEFL are the cause of
a) Charcot-Marie-Tooth disease type 1F
b) Charcot-Marie-Tooth disease type 2E
Laboratory:
- neurofilament light chain in serum significantly higher in patients with MRI-confirmed subclinical multiple sclerosis disease activity [8]
- neurofilament light chain in CSF levels are associated with neurodegenerative disease & cognitive decline [9]
Note:
- NEFL is the most abundant of the three neurofilament proteins
Interactions
molecular events
General
neurofilament protein
Properties
SIZE: entity length = 543 aa
MW = 62 kD
COMPARTMENT: cytoplasm
CELL: neuron
MOTIF: Head {2-92}
acetylation site
SITE: N-TERMINUS
EFFECTOR-BOUND: acetyl
Thr glycosylation site {T21}
Ser glycosylation site {S27}
Tyr phosphorylation site {Y43}
Ser phosphorylation site {S56}
Ser phosphorylation site {S67}
Rod {93-396}
MOTIF: Coil 1A {93-124}
Linker 1 {125-137}
Coil 1B {138-234}
Linker 12 {235-252}
Coil 2A {253-271}
Linker 2 {272-280}
Coil 2B {281-396}
epitope {381-391}
Tail {397-543}
MOTIF: Tail A {397-443}
Tyr phosphorylation site {Y424}
Tyr phosphorylation site {Y432}
Tail B {444-543}
Ser phosphorylation site {S472}
Database Correlations
OMIM correlations
MORBIDMAP 162280
UniProt P07196
PFAM correlations
Entrez Gene 4747
Kegg hsa:4747
References
- Alperts et al Molecular Biology of the Cell,
Garland Publishing, New York, NY 1989 pg 662
- Wang KK et al
Calmodulin-binding proteins as calpain substrates.
Biochem J 262:693 1989
PMID: 2556106
- Cairns NJ, Lee VM, Trojanowski JQ.
The cytoskeleton in neurodegenerative diseases.
J Pathol. 2004 Nov;204(4):438-49. Review.
PMID: 15495240
- UniProt :accession P07196
- Inherited peripheral neuropathies mutation db
http://www.molgen.ua.ac.be/CMTmutations/
- Human intermediate Filament mutation Database
http://www.interfil.org
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=NEFL
- Jenkins K
Serum Biomarker May Predict Relapse in MS
High NF-L levels could identify subclinical disease activity.
MedPage Today. Nov 30, 2017
- Varhaug KN, Barro C, Bjornevik K et al
Neurofilament light chain predicts disease activity in
relapsing-remitting MS
Neurol. Published Online Nov 29, 2017
PMID: 29209636
http://nn.neurology.org/content/5/1/e422
- Olsson B, Portelius E, Cullen NC et al
Association of Cerebrospinal Fluid Neurofilament Light Protein
Levels With Cognition in Patients With Dementia, Motor Neuron
Disease, and Movement Disorders.
JAMA Neurol. 2018 Dec 3.
PMID: 30508027
https://jamanetwork.com/journals/jamaneurology/fullarticle/2716834