Gene
nefla
- ID
- ZDB-GENE-091117-1
- Name
- neurofilament light chain a
- Symbol
- nefla Nomenclature History
- Previous Names
-
- si:ch211-222n4.10 (1)
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to be a structural constituent of postsynaptic intermediate filament cytoskeleton. Predicted to be involved in neurofilament bundle assembly. Predicted to be active in axon; cytoplasm; and intermediate filament cytoskeleton. Is expressed in nervous system. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease (multiple); amyotrophic lateral sclerosis; and invasive ductal carcinoma. Orthologous to human NEFL (neurofilament light chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from Wang et al., 2018
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Wang et al., 2018
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Charcot-Marie-Tooth disease dominant intermediate G | Alliance | Charcot-Marie-Tooth disease, dominant intermediate G | 617882 |
| Charcot-Marie-Tooth disease type 1F | Alliance | Charcot-Marie-Tooth disease, type 1F | 607734 |
| Charcot-Marie-Tooth disease type 2E | Alliance | Charcot-Marie-Tooth disease, type 2E | 607684 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Intermediate filament protein, conserved site | Intermediate filament, rod domain | Intermediate filament structural protein |
|---|---|---|---|---|
|
UniProtKB:A0A8M9PUK6
|
712 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-222N4 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_021469060 (1) | |||
| Genomic | GenBank:CU467622 (1) | 128877 nt | ||
| Polypeptide | UniProtKB:A0A8M9PUK6 (1) | 712 aa |
- Ho, M., Thompson, B., Fisk, J.N., Nebert, D.W., Bruford, E.A., Vasiliou, V., Bunick, C.G. (2022) Update of the keratin gene family: evolution, tissue-specific expression patterns, and relevance to clinical disorders. Human genomics. 16:1
- Wang, S., Ji, D., Yang, Q., Li, M., Ma, Z., Zhang, S., Li, H. (2018) NEFLb impairs early nervous system development via regulation of neuron apoptosis in zebrafish. Journal of Cellular Physiology. 234(7):11208-11218
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37
- Garcia-Reyero, N., Escalon, L., Prats, E., Faria, M., Soares, A.M., Raldúa, D. (2016) Targeted Gene Expression in Zebrafish Exposed to Chlorpyrifos-Oxon Confirms Phenotype-Specific Mechanisms Leading to Adverse Outcomes. Bulletin of environmental contamination and toxicology. 96(6):707-713
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