Property Summary

NCBI Gene PubMed Count 51
PubMed Score 563.29
PubTator Score 232.04

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (18)

Disease log2 FC p
malignant mesothelioma 4.900 7.4e-10
astrocytic glioma -3.000 3.5e-03
posterior fossa group B ependymoma -4.800 1.9e-14
glioblastoma -3.300 1.3e-07
oligodendroglioma -2.200 1.1e-10
group 4 medulloblastoma -3.300 2.6e-05
cystic fibrosis 1.340 6.6e-05
atypical teratoid/rhabdoid tumor -4.000 7.9e-10
primitive neuroectodermal tumor -2.400 7.3e-04
fibroadenoma 1.900 2.2e-02
adult high grade glioma -3.800 1.3e-05
pilocytic astrocytoma -4.000 1.4e-10
aldosterone-producing adenoma -1.148 8.1e-03
severe Alzheimer's disease -1.524 4.4e-02
Pick disease -1.100 2.6e-02
ovarian cancer -2.700 1.2e-03
pituitary cancer -3.800 7.4e-07
Down syndrome -1.400 1.8e-02

Protein-protein Interaction (4)

Gene RIF (29)

PMID Text
25633679 This study demonstrated that Higher NF-L concentrations (beta = -0.26) were associated with functional decline in patients with vascular burden.
25341992 Studied diagnostic Value of Serum Levels of GFAP, pNF-H, and NSE Compared With Clinical Findings in Severity Assessment of Human Traumatic Spinal Cord Injury.
25261856 Phospho-NFH levels were significantly higher in amyotrophic lateral sclerosis patients in comparison with controls, in particular in fast progressors.
25192482 pNFL-H may be useful in determining which individuals require CT imaging to assess the severity of their injury
24464810 Data identified NEFH methylation as a candidate epigenetic marker for prognosis of RCC patients as well as prediction of anti-vascular endothelial growth factor-based therapy response.
24260563 Subconcussive repetitive trauma in amateur boxing causes a mild traumatic brain injury that may be diagnosed by CSF analysis of expressed pNFH, even without unconsciousness or concussion symptoms.
23632043 CSF and intrathecal levels and CSF/serum ratios of anti-NFH antibodies were increased in the CIS patients early developing multiple sclerosis.
23134506 In conclusion, pNfH represents a promising candidate for inclusion in a panel of diagnostic and prognostic biomarkers.
23117489 These data support further study of pNF-H in CSF, serum and plasma as a potential amyotrophic lateral sclerosis biomarker
23079625 Absence of axonal neurofilaments in NFH-LacZ transgenic mice compromises axonal regeneration.
21976236 NF-H levels increase significantly faster in children who have a worse Glasgow Outcome Scale following traumatic brain injury, or died.
21858182 Data suggest that a deficiency of cellular neuroprotective mechanisms (decrease of sAPP) is linked to progressive neuro-axonal damage (increase of NfH(SMI35)) and to progression of disease.
21792676 significant in vivo information on the pathophysiology of stroke may be obtained by the determination of NfH(SMI35).
21349546 Serum neurofilament protein H levels were significantly elevated in stroke patients compared to healthy controls.
20624930 direct evidence that NF-M/H are hyperphosphorylated in Alzheimer disease
20213320 the importance of alpha-internexin and NF-L in regulating the conformations of NF-M and NF-H
20140245 Data show that RNA interference-mediated knockdown of NEFH accelerated ESCC cell growth in culture and increased tumorigenicity in vivo.
19678766 cerebrospinal fluid phosphorylated forms of neurofilament heavy subunit are not molecular markers of axonal damage for HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) probably due to the slow progression of this disease.
19104679 Elevated pNF-H released into the serum of some affected Leber hereditary optic neuropathy patients may suggest that axonal degeneration occurs at some point after loss of visual function.
19054571 Observational study of gene-disease association. (HuGE Navigator)
18635547 Pin1 as a possible modulator of stress-induced NF-H phosphorylation as seen in neurodegenerative disorders like AD and amyotrophic lateral sclerosis
18319731 analysis of major neurofilament subunit NF-H levels in blood and cerebrospinal fluid differentiates between patients with poor and favorable outcomes.
17626162 Isomerization of lys-ser-pro repeat residues that are abundant in NF-H tail domains by Pin1 can regulate NF-H phosphorylation.
17290105 A subgroup of FTD patients had remarkably high CSF levels of NfH. The degree of NfH phosphorylation was increased in FTD compared to both other groups.
16084104 mutations in neurofilaments are possible risk factors that may contribute to pathogenesis in amyotrophic lateral sclerosis in conjunction with one or more additional genetic or environmental factors, but are not significant primary causes
14722583 Observational study of gene-disease association. (HuGE Navigator)
14722583 NEFH gene is involved in the pathogenesis of sporadic motor neuron disease
12674703 Observational study of gene-disease association. (HuGE Navigator)
12130654 NEFH is phosphorylated at serine 493 by GSK3b

AA Sequence

MMSFGGADALLGAPFAPLHGGGSLHYALARKGGAGGTRSAAGSSSGFHSWTRTSVSSVSASPSRFRGAGA      1 - 70
ASSTDSLDTLSNGPEGCMVAVATSRSEKEQLQALNDRFAGYIDKVRQLEAHNRSLEGEAAALRQQQAGRS     71 - 140
AMGELYEREVREMRGAVLRLGAARGQLRLEQEHLLEDIAHVRQRLDDEARQREEAEAAARALARFAQEAE    141 - 210
AARVDLQKKAQALQEECGYLRRHHQEEVGELLGQIQGSGAAQAQMQAETRDALKCDVTSALREIRAQLEG    211 - 280
HAVQSTLQSEEWFRVRLDRLSEAAKVNTDAMRSAQEEITEYRRQLQARTTELEALKSTKDSLERQRSELE    281 - 350
DRHQADIASYQEAIQQLDAELRNTKWEMAAQLREYQDLLNVKMALDIEIAAYRKLLEGEECRIGFGPIPF    351 - 420
SLPEGLPKIPSVSTHIKVKSEEKIKVVEKSEKETVIVEEQTEETQVTEEVTEEEEKEAKEEEGKEEEGGE    421 - 490
EEEAEGGEEETKSPPAEEAASPEKEAKSPVKEEAKSPAEAKSPEKEEAKSPAEVKSPEKAKSPAKEEAKS    491 - 560
PPEAKSPEKEEAKSPAEVKSPEKAKSPAKEEAKSPAEAKSPEKAKSPVKEEAKSPAEAKSPVKEEAKSPA    561 - 630
EVKSPEKAKSPTKEEAKSPEKAKSPEKAKSPEKEEAKSPEKAKSPVKAEAKSPEKAKSPVKAEAKSPEKA    631 - 700
KSPVKEEAKSPEKAKSPVKEEAKSPEKAKSPVKEEAKTPEKAKSPVKEEAKSPEKAKSPEKAKTLDVKSP    701 - 770
EAKTPAKEEARSPADKFPEKAKSPVKEEVKSPEKAKSPLKEDAKAPEKEIPKKEEVKSPVKEEEKPQEVK    771 - 840
VKEPPKKAEEEKAPATPKTEEKKDSKKEEAPKKEAPKPKVEEKKEPAVEKPKESKVEAKKEEAEDKKKVP    841 - 910
TPEKEAPAKVEVKEDAKPKEKTEVAKKEPDDAKAKEPSKPAEKKEAAPEKKDTKEEKAKKPEEKPKTEAK    911 - 980
AKEDDKTLSKEPSKPKAEKAEKSSSTDQKDSKPPEKATEDKAAKGK                            981 - 1026
//

Text Mined References (54)

PMID Year Title
27040688 2016 Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy.
25633679 2015 Differential Impact of Neurofilament Light Subunit on Cognition and Functional Outcome in Memory Clinic Patients with and without Vascular Burden.
25341992 2015 Diagnostic Value of Serum Levels of GFAP, pNF-H, and NSE Compared With Clinical Findings in Severity Assessment of Human Traumatic Spinal Cord Injury.
25261856 2015 Phosphoneurofilament heavy chain and N-glycomics from the cerebrospinal fluid in amyotrophic lateral sclerosis.
25192482 2014 Detection of neurofilament-H in serum as a diagnostic tool to predict injury severity in patients who have suffered mild traumatic brain injury.
24464810 2014 Neurofilament Heavy polypeptide CpG island methylation associates with prognosis of renal cell carcinoma and prediction of antivascular endothelial growth factor therapy response.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24260563 2013 Increased CSF levels of phosphorylated neurofilament heavy protein following bout in amateur boxers.
23632043 2013 Serum and cerebrospinal fluid heavy neurofilaments and antibodies against them in early multiple sclerosis.
23134506 2013 pNfH is a promising biomarker for ALS.
23117489 2013 Phosphorylated neurofilament heavy subunit (pNF-H) in peripheral blood and CSF as a potential prognostic biomarker in amyotrophic lateral sclerosis.
23079625 2013 Axonal regeneration is compromised in NFH-LacZ transgenic mice but not in NFH-GFP mice.
21976236 2012 The usefulness of S100B, NSE, GFAP, NF-H, secretagogin and Hsp70 as a predictive biomarker of outcome in children with traumatic brain injury.
21858182 2011 Soluble beta-amyloid precursor protein is related to disease progression in amyotrophic lateral sclerosis.
21828286 2011 Direct evidence of phosphorylated neuronal intermediate filament proteins in neurofibrillary tangles (NFTs): phosphoproteomics of Alzheimer's NFTs.
21792676 2011 Hyperacute detection of neurofilament heavy chain in serum following stroke: a transient sign.
21349546 2011 Levels of phosphorylated axonal neurofilament subunit H (pNfH) are increased in acute ischemic stroke.
20624930 2010 Quantitative phosphoproteomic analysis of neuronal intermediate filament proteins (NF-M/H) in Alzheimer's disease by iTRAQ.
20213320 2010 How the projection domains of NF-L and alpha-internexin determine the conformations of NF-M and NF-H in neurofilaments.
20140245 2010 Neurofilament heavy polypeptide regulates the Akt-beta-catenin pathway in human esophageal squamous cell carcinoma.
19678766 2009 Comparative study of CSF neurofilaments in HTLV-1-associated myelopathy/tropical spastic paraparesis and other neurological disorders.
19104679 2008 Phosphorylated neurofilament heavy chain is a marker of neurodegeneration in Leber hereditary optic neuropathy (LHON).
19054571 2009 Polymorphisms in genes involved in neurodevelopment may be associated with altered brain morphology in schizophrenia: preliminary evidence.
18635547 2008 Pin1-dependent prolyl isomerization modulates the stress-induced phosphorylation of high molecular weight neurofilament protein.
18319731 2008 Detection of phosphorylated NF-H in the cerebrospinal fluid and blood of aneurysmal subarachnoid hemorrhage patients.
17626162 2007 Inhibition of Pin1 reduces glutamate-induced perikaryal accumulation of phosphorylated neurofilament-H in neurons.
17498690 2007 Role of phosphorylation on the structural dynamics and function of types III and IV intermediate filaments.
17290105 2007 CSF neurofilaments in frontotemporal dementia compared with early onset Alzheimer's disease and controls.
16084104 2006 Mutations in neurofilament genes are not a significant primary cause of non-SOD1-mediated amyotrophic lateral sclerosis.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14722583 2004 Analysis of heavy neurofilament subunit gene polymorphism in Russian patients with sporadic motor neuron disease (MND).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14662745 2003 NF-M is an essential target for the myelin-directed "outside-in" signaling cascade that mediates radial axonal growth.
12963086 2004 Co-purification and localization of Munc18-1 (p67) and Cdk5 with neuronal cytoskeletal proteins.
12674703 2003 [Association of homozygosity for short allele (S) of heavy neurofilament subunit gene with motor neuron disease and oxidative stress development].
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12130654 2002 In vivo and in vitro phosphorylation at Ser-493 in the glutamate (E)-segment of neurofilament-H subunit by glycogen synthase kinase 3beta.
11238716 2001 Phosphorylation state of the native high-molecular-weight neurofilament subunit protein from cervical spinal cord in sporadic amyotrophic lateral sclerosis.
10591208 1999 The DNA sequence of human chromosome 22.
10048485 1998 Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
9931323 1999 Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis.
9875737 1998 Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS).
9388258 1997 Heterodimeric associations between neuronal intermediate filament proteins.
9313898 1997 Phosphorylation of human high molecular weight neurofilament protein (hNF-H) by neuronal cyclin-dependent kinase 5 (cdk5).
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8621664 1996 PKN associates and phosphorylates the head-rod domain of neurofilament protein.
8379998 1993 Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2.
8224877 1993 Polymorphism in the multi-phosphorylation domain of the human neurofilament heavy-subunit-encoding gene.
8102569 1993 A disease-associated germline deletion maps the type 2 neurofibromatosis (NF2) gene between the Ewing sarcoma region and the leukaemia inhibitory factor locus.
7849698 1994 Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis.
7536898 1995 Defective axonal transport in a transgenic mouse model of amyotrophic lateral sclerosis.
3138108 1988 The structure and organization of the human heavy neurofilament subunit (NF-H) and the gene encoding it.
2557834 1989 Characterization of two proteolytically derived soluble polypeptides from the neurofilament triplet components NFM and NFH.
1688443 1990 Autoantigens in human neuroblastoma cells.