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NEFL

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NEFL
Identifikatori
AliasiNEFL
Vanjski ID-jeviOMIM: 162280 MGI: 97313 HomoloGene: 4487 GeneCards: NEFL
Lokacija gena (čovjek)
Hromosom 8 (čovjek)
Hrom.Hromosom 8 (čovjek)[1]
Hromosom 8 (čovjek)
Genomska lokacija za NEFL
Genomska lokacija za NEFL
Bend8p21.2Početak24,950,955 bp[1]
Kraj24,956,721 bp[1]
Lokacija gena (miš)
Hromosom 14 (miš)
Hrom.Hromosom 14 (miš)[2]
Hromosom 14 (miš)
Genomska lokacija za NEFL
Genomska lokacija za NEFL
Bend14|14 D1Početak68,321,312 bp[2]
Kraj68,326,544 bp[2]
Obrazac RNK ekspresije




Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija protein-macromolecule adaptor activity
structural molecule activity
structural constituent of cytoskeleton
protein C-terminus binding
GO:0001948, GO:0016582 vezivanje za proteine
vezivanje identičnih proteina
protein heterodimerization activity
protein domain specific binding
phospholipase binding
structural constituent of postsynaptic intermediate filament cytoskeleton
Ćelijska komponenta citoplazma
citosol
neurofilament
growth cone
myelin sheath
TSC1-TSC2 complex
Akson
neuron projection
Intermedijarni filament
axon cytoplasm
Nervno-mišićna veza
Schaffer collateral - CA1 synapse
cholinergic synapse
postsynaptic intermediate filament cytoskeleton
presynaptic intermediate filament cytoskeleton
Biološki proces GO:1904089 negative regulation of neuron apoptotic process
retrograde axonal transport
intermediate filament organization
response to sodium arsenite
neuron projection morphogenesis
protein polymerization
intermediate filament bundle assembly
neuromuscular process controlling balance
neurofilament bundle assembly
response to corticosterone
response to peptide hormone
response to organic substance
positive regulation of axonogenesis
MAPK cascade
anterograde axonal transport
axonal transport of mitochondrion
regulation of axon diameter
peripheral nervous system axon regeneration
locomotion
response to acrylamide
spinal cord development
cerebral cortex development
intermediate filament polymerization or depolymerization
neurofilament cytoskeleton organization
hippocampus development
response to toxic substance
microtubule cytoskeleton organization
axon development
synapse maturation
postsynaptic intermediate filament cytoskeleton organization
regulation of NMDA receptor activity
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_006158

NM_010910

RefSeq (bjelančevina)

NP_006149

NP_035040

Lokacija (UCSC)Chr 8: 24.95 – 24.96 MbChr 14: 68.32 – 68.33 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Neurofilamentni lahki polipeptid, znan i kao neurofilamentni lahki lanac, je neurofilamentni protein koji je kod ljudi kodiran genom NEFL.[5][6]

Aminokiselinska sekvenca

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Dužina polipeptidnog lanca je 543 aminokiseline, а molekulska težina 61.517 Da.[7]

1020304050
MSSFSYEPYYSTSYKRRYVETPRVHISSVRSGYSTARSAYSSYSAPVSSS
LSVRRSYSSSSGSLMPSLENLDLSQVAAISNDLKSIRTQEKAQLQDLNDR
FASFIERVHELEQQNKVLEAELLVLRQKHSEPSRFRALYEQEIRDLRLAA
EDATNEKQALQGEREGLEETLRNLQARYEEEVLSREDAEGRLMEARKGAD
EAALARAELEKRIDSLMDEISFLKKVHEEEIAELQAQIQYAQISVEMDVT
KPDLSAALKDIRAQYEKLAAKNMQNAEEWFKSRFTVLTESAAKNTDAVRA
AKDEVSESRRLLKAKTLEIEACRGMNEALEKQLQELEDKQNADISAMQDT
INKLENELRTTKSEMARYLKEYQDLLNVKMALDIEIAAYRKLLEGEETRL
SFTSVGSITSGYSQSSQVFGRSAYGGLQTSSYLMSTRSFPSYYTSHVQEE
QIEVEETIEAAKAEEAKDEPPSEGEAEEEEKDKEEAEEEEAAEEEEAAKE
ESEEAKEEEEGGEGEEGEETKEAEEEEKKVEGAGEEQAAKKKD

Funkcija

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Lahki lanac neurofilamenta je biomarker koji se može mjeriti imunološkim testovima u moždanokičmenoj tekućini i plazmi i odražava aksonsko oštećenje u raznim neurološkim poremećajima.[8][9] To je upotrebljiv marker za prećenje bolesti kao što je amiotrofna lateralna skleroza,[10] multipla skleroza[11] i Alzheimerova bolest,[12][13] a od nedavno i Huntingtonova bolest.[14] Veći broj povezan je s povećanjem mortaliteta.[15]

Povezan je s Charcot-Marie-Toothovim bolestima 1F i 2E.[5]

Interakcije

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Lahki neurofilamentni polipeptid je pokazao interakcije sa:

Reference

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000277586 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022055 - Ensembl, maj 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b Miltenberger-Miltenyi G, Janecke AR, Wanschitz JV, Timmerman V, Windpassinger C, Auer-Grumbach M, Löscher WN (juli 2007). "Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene". Archives of Neurology. 64 (7): 966–70. doi:10.1001/archneur.64.7.966. PMID 17620486.
  6. ^ "Entrez Gene: NEFL neurofilament, light polypeptide 68kDa".
  7. ^ "UniProt, P07196" (jezik: англ.). Pristupljeno 20. 9. 2021.CS1 održavanje: nepoznati jezik (link)
  8. ^ Khalil M, Teunissen CE, Otto M, Piehl F, Sormani MP, Gattringer T, Barro C, Kappos L, Comabella M, Fazekas F, Petzold A, Blennow K, Zetterberg H, Kuhle J (oktobar 2018). "Neurofilaments as biomarkers in neurological disorders" (PDF). Nature Reviews. Neurology. 14 (10): 577–589. doi:10.1038/s41582-018-0058-z. PMID 30171200. S2CID 52140127. neuroaxonal damage is the pathological substrate of permanent disability in various neurological disorders. ... Here, we review what is known about the structure and function of neurofilaments, discuss analytical aspects and knowledge of age-dependent normal ranges of neurofilaments and provide a comprehensive overview of studies on neurofilament light chain as a marker of axonal injury in different neurological disorders, including multiple sclerosis, neurodegenerative dementia, stroke, traumatic brain injury, amyotrophic lateral sclerosis and Parkinson disease.
  9. ^ Thompson AB, Mead SH (decembar 2018). "Review: Fluid biomarkers in the human prion diseases" (PDF). Molecular and Cellular Neurosciences. 97: 81–92. doi:10.1016/j.mcn.2018.12.003. PMID 30529227. S2CID 54437514. The very rapid neurodegeneration of prion disease results in strong signals from surrogate protein markers in the blood that reflect neuronal, axonal, synaptic or glial pathology in the brain: notably the tau and neurofilament light chain proteins.
  10. ^ Xu Z, Henderson RD, David M, McCombe PA (2016). "Neurofilaments as Biomarkers for Amyotrophic Lateral Sclerosis: A Systematic Review and Meta-Analysis". PLOS ONE. 11 (10): e0164625. Bibcode:2016PLoSO..1164625X. doi:10.1371/journal.pone.0164625. PMC 5061412. PMID 27732645. NF heavy and light chain levels have potential use as a marker of neural degeneration in ALS, but are not specific for the disease, and are more likely to be used as measures of disease progression.
  11. ^ Cai L, Huang J (2018). "Neurofilament light chain as a biological marker for multiple sclerosis: a meta-analysis study". Neuropsychiatric Disease and Treatment. 14: 2241–2254. doi:10.2147/NDT.S173280. PMC 6126505. PMID 30214214. NFL chain has significantly increased in MS patients, which substantially strengthens the clinical evidence of the NFL in MS. The NFL may be used as a prognostic biomarker to monitor disease progression, disease activity, and treatment efficacy in the future.
  12. ^ Zetterberg, Henrik (6. 2. 2019). "Biomarkers for Alzheimer's disease beyond amyloid and tau" (PDF). Nature Medicine. 25 (2): 201–203. doi:10.1038/s41591-019-0348-z. PMID 30728536. S2CID 59607046.
  13. ^ Preische O, Schultz SA, Apel A, et al. (2019). "Serum neurofilament dynamics predicts neurodegeneration and clinical progression in presymptomatic Alzheimer's disease". Nature Medicine. 25 (2): 277–283. doi:10.1038/s41591-018-0304-3. PMC 6367005. PMID 30664784.
  14. ^ Niemelä V, Landtblom AM, Blennow K, Sundblom J (27. 2. 2017). "Tau or neurofilament light-Which is the more suitable biomarker for Huntington's disease?". PLOS ONE. 12 (2): e0172762. Bibcode:2017PLoSO..1272762N. doi:10.1371/journal.pone.0172762. PMC 5328385. PMID 28241046.
  15. ^ "A neuronal blood marker is associated with mortality in old age". Pristupljeno 11. 2. 2021.
  16. ^ Frappier T, Stetzkowski-Marden F, Pradel LA (april 1991). "Interaction domains of neurofilament light chain and brain spectrin". The Biochemical Journal. 275 ( Pt 2) (2): 521–7. doi:10.1042/bj2750521. PMC 1150082. PMID 1902666.
  17. ^ Mukai H, Toshimori M, Shibata H, Kitagawa M, Shimakawa M, Miyahara M, Sunakawa H, Ono Y (april 1996). "PKN associates and phosphorylates the head-rod domain of neurofilament protein". The Journal of Biological Chemistry. 271 (16): 9816–22. doi:10.1074/jbc.271.16.9816. PMID 8621664.
  18. ^ Haddad LA, Smith N, Bowser M, Niida Y, Murthy V, Gonzalez-Agosti C, Ramesh V (novembar 2002). "The TSC1 tumor suppressor hamartin interacts with neurofilament-L and possibly functions as a novel integrator of the neuronal cytoskeleton". The Journal of Biological Chemistry. 277 (46): 44180–6. doi:10.1074/jbc.M207211200. PMID 12226091.

Dopunska literatura

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Vanjski linkovi

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