Gene
neflb
- ID
- ZDB-GENE-060312-44
- Name
- neurofilament light chain b
- Symbol
- neflb Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to have structural molecule activity. Involved in hindbrain development; negative regulation of neuron apoptotic process; and spinal cord development. Predicted to localize to neurofilament. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease (multiple); amyotrophic lateral sclerosis; and invasive ductal carcinoma. Is expressed in nervous system. Orthologous to human NEFL (neurofilament light).
- Genome Resources
- Note
-
neflb exhibits a splice variant specific phenotype on motor neuron development as described in Demy et al, 2020.
- Comparative Information
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
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
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR018039 | Intermediate filament protein, conserved site |
Domain | IPR006821 | Intermediate filament head, DNA-binding domain |
Domain | IPR039008 | Intermediate filament, rod domain |
Family | IPR002957 | Keratin, type I |
Family | IPR050405 | Intermediate filament structural protein |
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Domain Details Per Protein
Protein | Length | Intermediate filament head, DNA-binding domain | Intermediate filament protein, conserved site | Intermediate filament, rod domain | Intermediate filament structural protein | Keratin, type I |
---|---|---|---|---|---|---|
UniProtKB:Q29RE8
|
579 |
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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 | CH73-347J20 | ZFIN Curated Data | |
Contained in | BAC | CH211-255G12 | ZFIN Curated Data | |
Encodes | cDNA | MGC:136626 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001039838 (1) | 2240 nt | ||
Genomic | GenBank:AL954310 (1) | 156407 nt | ||
Polypeptide | UniProtKB:Q29RE8 (1) | 579 aa |
- Hu, M., Bodnar, B., Zhang, Y., Xie, F., Li, F., Li, S., Zhao, J., Zhao, R., Gedupoori, N., Mo, Y., Lin, L., Li, X., Meng, W., Yang, X., Wang, H., Barbe, M.F., Srinivasan, S., Bethea, J.R., Mo, X., Xu, H., Hu, W. (2023) Defective neurite elongation and branching in Nibp/Trappc9 deficient zebrafish and mice. International journal of biological sciences. 19:322632483226-3248
- 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
- Wasserman-Bartov, T., Admati, I., Lebenthal-Loinger, I., Sharabany, J., Lerer-Goldshtein, T., Appelbaum, L. (2022) Tsh induces Agrp1 neuron proliferation in Oatp1c1 deficient zebrafish. The Journal of neuroscience : the official journal of the Society for Neuroscience. 42(44):8214-8224
- Demy, D.L., Campanari, M.L., Munoz-Ruiz, R., Durham, H.D., Gentil, B.J., Kabashi, E. (2020) Functional Characterization of Neurofilament Light Splicing and Misbalance in Zebrafish. Cells. 9(5):
- Zhang, X., Zhou, Q., Li, X., Zou, W., Hu, X. (2020) Integrating omics and traditional analyses to profile the synergistic toxicity of graphene oxide and triphenyl phosphate. Environmental pollution (Barking, Essex : 1987). 263:114473
- 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
- Liao, M.L., Peng, W.H., Kan, D., Chien, C.L. (2016) Developmental Pattern of the Neuronal Intermediate Filament inaa in the Zebrafish Retina. The Journal of comparative neurology. 524(18):3810-3826
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