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MIRAGE
neurofilament heavy chain
Summary
- Gene Symbol
-
- NEFH
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Amyotrophic lateral sclerosis
- Cell projection
- Charcot-Marie-Tooth disease
- Coiled coil
- Cytoskeleton
- Disease variant
- Intermediate filament
- Phosphoprotein
- Reference proteome
- Repeat
- Proteins
| UniProt | Protein Name |
|---|---|
| P12036 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| microtubule cytoskeleton organization | ||
| axonogenesis | ||
| cell projection assembly | ||
| neurofilament bundle assembly | ||
| intermediate filament bundle assembly |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| cytoplasm | ||
| cytoplasm | ||
| cytoskeleton | ||
| neurofilament | ||
| neurofilament |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| structural constituent of cytoskeleton | ||
| structural constituent of cytoskeleton | ||
| protein binding | ||
| microtubule binding | ||
| kinesin binding |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- Keratin
- Functional Category
-
- E: Amino acid transport and metabolism
- O: Posttranslational modification, protein turnover, chaperones
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| intermediate filament organization |
| InterPro |
|---|
| Intermediate filament protein, conserved site |
| Intermediate filament, rod domain |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0060193 | amyotrophic lateral sclerosis type 1 | |
| DOID:0110180 | Charcot-Marie-Tooth disease axonal type 2CC | |
| DOID:332 | amyotrophic lateral sclerosis | |
| DOID:7442 | monoclonal gammopathy of uncertain significance |
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 100465391 | AILME16531 | ||
| 100598401 | NOMLE33874 | ||
| 100691123 | ORENI09560 | ||
| 100962779 | OTOGA11874 | ||
| 101087272 | FELCA27620 | ||
| 101334960 | TURTR07221 | ||
| 101565178 | OCTDE05836 | ||
| 101614123 | JACJA15955 | ||
| 101953853 | CHRPI20761 | ||
| 101965664 | ICTTR10366 |
