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neurofilament heavy chain

Summary

Gene Symbol

NEFH

Organism

Homo sapiens (human)

External Links

NCBI Gene

4744

PubChem

4744

Alliance of Genome Resources

HGNC:7737

Annotation

Keyword

Alternative splicing
Amyotrophic lateral sclerosis
Cell projection
Charcot-Marie-Tooth disease
Coiled coil
Cytoskeleton
Disease variant
Intermediate filament
Phosphoprotein
Proteomics identification
Reference proteome
Repeat

Proteins

Displaying 1 entry
UniProt	Protein Name
P12036	200 kDa neurofilament protein Neurofilament triplet H protein

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 13 in total

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GO Term	Evidence Code	PMID
microtubule cytoskeleton organization	IEA
axonogenesis	TAS	17498690
cell projection assembly	TAS	17498690
neurofilament bundle assembly	IMP	7536898
intermediate filament bundle assembly	IBA

GO Hierarchy

biological process

cellular process [inference]

microtubule-based process [inference]

microtubule cytoskeleton organization

intermediate filament-based process [inference]

intermediate filament cytoskeleton organization [inference]

intermediate filament organization [inference]

intermediate filament bundle assembly

neurofilament bundle assembly

cellular response to stimulus [inference]

cellular response to chemical stimulus [inference]

cellular response to organic substance [inference]

cellular response to cytokine stimulus [inference]

cellular response to leukemia inhibitory factor

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

cytoskeleton organization [inference]

microtubule cytoskeleton organization

intermediate filament cytoskeleton organization [inference]

intermediate filament organization [inference]

intermediate filament bundle assembly

neurofilament bundle assembly

postsynaptic cytoskeleton organization [inference]

postsynaptic intermediate filament cytoskeleton organization

cellular component assembly [inference]

cell projection assembly

intermediate filament bundle assembly

neurofilament bundle assembly

cell projection organization [inference]

cell projection assembly

cell projection morphogenesis [inference]

plasma membrane bounded cell projection morphogenesis [inference]

neuron projection morphogenesis [inference]

axonogenesis

peripheral nervous system neuron axonogenesis

plasma membrane bounded cell projection organization [inference]

neuron projection development [inference]

axon development

supramolecular fiber organization [inference]

intermediate filament organization [inference]

intermediate filament bundle assembly

neurofilament bundle assembly

developmental process [inference]

anatomical structure morphogenesis [inference]

cellular anatomical entity morphogenesis [inference]

cell projection morphogenesis [inference]

plasma membrane bounded cell projection morphogenesis [inference]

neuron projection morphogenesis [inference]

axonogenesis

peripheral nervous system neuron axonogenesis

response to stimulus [inference]

response to chemical [inference]

response to organic substance [inference]

response to cytokine [inference]

cellular response to cytokine stimulus [inference]

cellular response to leukemia inhibitory factor

response to leukemia inhibitory factor [inference]

cellular response to leukemia inhibitory factor

cellular response to organic substance [inference]

cellular response to cytokine stimulus [inference]

cellular response to leukemia inhibitory factor

cellular response to chemical stimulus [inference]

cellular response to organic substance [inference]

cellular response to cytokine stimulus [inference]

cellular response to leukemia inhibitory factor

cellular response to stimulus [inference]

cellular response to chemical stimulus [inference]

cellular response to organic substance [inference]

cellular response to cytokine stimulus [inference]

cellular response to leukemia inhibitory factor

biological regulation [inference]

regulation of biological process [inference]

regulation of signaling [inference]

regulation of trans-synaptic signaling [inference]

modulation of chemical synaptic transmission [inference]

postsynaptic modulation of chemical synaptic transmission

regulation of localization [inference]

regulation of transport [inference]

regulation of intracellular transport [inference]

regulation of organelle transport along microtubule

regulation of cellular localization [inference]

regulation of intracellular transport [inference]

regulation of organelle transport along microtubule

regulation of cellular process [inference]

regulation of cell communication [inference]

regulation of trans-synaptic signaling [inference]

modulation of chemical synaptic transmission [inference]

postsynaptic modulation of chemical synaptic transmission

regulation of microtubule-based process [inference]

regulation of microtubule-based movement [inference]

regulation of organelle transport along microtubule

regulation of cellular localization [inference]

regulation of intracellular transport [inference]

regulation of organelle transport along microtubule

Displaying entries **1 - 5** of 11 in total

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GO Term	Evidence Code	PMID
cytoplasm	ISS
cytoplasm	IDA	27040688
cytoskeleton	IDA	24327345
neurofilament	NAS	3138108 9313898
neurofilament	IBA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

intracellular anatomical structure [inference]

inclusion body [inference]

neurofibrillary tangle

cytoplasm

cell junction [inference]

synapse [inference]

Schaffer collateral - CA1 synapse

cell projection [inference]

plasma membrane bounded cell projection [inference]

neuron projection [inference]

axon

organelle [inference]

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

cytoskeleton

intermediate filament cytoskeleton [inference]

postsynaptic intermediate filament cytoskeleton

postsynaptic cytoskeleton [inference]

postsynaptic intermediate filament cytoskeleton

intracellular organelle [inference]

intracellular non-membrane-bounded organelle [inference]

cytoskeleton

intermediate filament cytoskeleton [inference]

postsynaptic intermediate filament cytoskeleton

postsynaptic cytoskeleton [inference]

postsynaptic intermediate filament cytoskeleton

postsynaptic specialization [inference]

postsynaptic density

supramolecular complex [inference]

supramolecular polymer [inference]

supramolecular fiber [inference]

polymeric cytoskeletal fiber [inference]

intermediate filament [inference]

neurofilament

Displaying entries **1 - 5** of 9 in total

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GO Term	Evidence Code	PMID
structural constituent of cytoskeleton	ISS
structural constituent of cytoskeleton	IMP	7536898
protein binding	IPI	32814053
microtubule binding	TAS	17498690
kinesin binding	TAS	17498690

GO Hierarchy

molecular function

structural molecule activity [inference]

structural constituent of cytoskeleton

structural constituent of postsynaptic intermediate filament cytoskeleton

structural constituent of synapse [inference]

structural constituent of postsynapse [inference]

structural constituent of postsynaptic intermediate filament cytoskeleton

binding [inference]

protein binding

cytoskeletal protein binding [inference]

tubulin binding [inference]

microtubule binding

kinesin binding

enzyme binding [inference]

kinase binding [inference]

protein kinase binding

protein-containing complex binding [inference]

dynein complex binding

molecular adaptor activity [inference]

protein-macromolecule adaptor activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

neurofilament heavy polypeptide

Functional Category

L: Replication, recombination and repair
O: Posttranslational modification, protein turnover, chaperones
T: Signal transduction mechanisms

Displaying **all 3** entries
Gene Ontology
axon development
intermediate filament bundle assembly
structural constituent of postsynaptic intermediate filament cytoskeleton

Displaying **all 3** entries
InterPro
Intermediate filament protein, conserved site
Intermediate filament, rod domain
Neurofilament heavy polypeptide

Disease

Disease Ontology

Displaying **all 4** entries
DO ID	Disease Name	Source
DOID:0060193	amyotrophic lateral sclerosis type 1	Alliance of Genome Resources
DOID:0110180	Charcot-Marie-Tooth disease axonal type 2CC	Alliance of Genome Resources
DOID:332	amyotrophic lateral sclerosis	Alliance of Genome Resources
DOID:7442	monoclonal gammopathy of uncertain significance	Alliance of Genome Resources