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MIRAGE
Neurofilament light polypeptide
Summary
- UniProt ID
- P07196
- Gene Symbol
-
- NEFL
- NF68
- NFL
- Gene ID
- 4747
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Acetylation
- Cell projection
- Charcot-Marie-Tooth disease
- Coiled coil
- Cytoskeleton
- Direct protein sequencing
- Disease variant
- Glycoprotein
- Intermediate filament
- Methylation
- Neurodegeneration
- Phosphoprotein
- Reference proteome
- Ubl conjugation
- Gene Ontology (GO)
| GO Term |
|---|
| Schaffer collateral - CA1 synapse |
| postsynaptic intermediate filament cytoskeleton |
| presynaptic intermediate filament cytoskeleton |
| axon cytoplasm |
| cytoplasm |
| intermediate filament |
| axon |
| neuromuscular junction |
| cytosol |
| neurofilament |
| GO Term |
|---|
| axonal transport of mitochondrion |
| positive regulation of axonogenesis |
| anterograde axonal transport |
| regulation of axon diameter |
| intermediate filament organization |
| protein polymerization |
| motor neuron apoptotic process |
Sequence
MSSFSYEPYYSTSYKRRYVETPRVHISSVRSGYSTARSAYSSYSAPVSSSLSVRRSYSSSSGSLMPSLENLDLSQVAAISNDLKSIRTQEKAQLQDLNDRFASFIERVHELEQQNKVLEAELLVLRQKHSEPSRFRALYEQEIRDLRLAAEDATNEKQALQGEREGLEETLRNLQARYEEEVLSREDAEGRLMEARKGADEAALARAELEKRIDSLMDEISFLKKVHEEEIAELQAQIQYAQISVEMDVTKPDLSAALKDIRAQYEKLAAKNMQNAEEWFKSRFTVLTESAAKNTDAVRAAKDEVSESRRLLKAKTLEIEACRGMNEALEKQLQELEDKQNADISAMQDTINKLENELRTTKSEMARYLKEYQDLLNVKMALDIEIAAYRKLLEGEETRLSFTSVGSITSGYSQSSQVFGRSAYGGLQTSSYLMSTRSFPSYYTSHVQEEQIEVEETIEAAKAEEAKDEPPSEGEAEEEEKDKEEAEEEEAAEEEEAAKEESEEAKEEEEGGEGEEGEETKEAEEEEKKVEGAGEEQAAKKKD
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 21 | O-linked (GlcNAc) threonine | |||
| 27 | O-linked (GlcNAc) serine | |||
| 34 |
|
|||
| 38 |
|
|||
| 41 |
|
|||
| 42 |
|
|||
| 44 |
|
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| 48 |
|
|||
| 49 |
|
|||
| 50 |
|
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Assembly and cell surface presentation of NMDA receptors | Homo sapiens |
| Long-term potentiation | Homo sapiens |
| Negative regulation of NMDA receptor-mediated neuronal transmission | Homo sapiens |
| RAF/MAP kinase cascade | Homo sapiens |
| Ras activation upon Ca2+ influx through NMDA receptor | Homo sapiens |
| Unblocking of NMDA receptors, glutamate binding and activation | Homo sapiens |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0080294 | Charcot-Marie-Tooth disease dominant intermediate G | |
| DOID:0110149 | Charcot-Marie-Tooth disease type 1F | |
| DOID:0110165 | Charcot-Marie-Tooth disease type 2E | |
| DOID:10595 | Charcot-Marie-Tooth disease | |
| DOID:3008 | invasive ductal carcinoma | |
| DOID:332 | amyotrophic lateral sclerosis |
