Gene
ebf3a
- ID
- ZDB-GENE-070112-292
- Name
- EBF transcription factor 3a
- Symbol
- ebf3a Nomenclature History
- Previous Names
-
- ebf3
- zgc:158829
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within regulation of DNA-templated transcription. Predicted to be located in nucleus. Is expressed in brain and sensory system. Human ortholog(s) of this gene implicated in hypotonia, ataxia, and delayed development syndrome. Orthologous to several human genes including EBF1 (EBF transcription factor 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la027360Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa18240 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa22167 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa35371 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa35372 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| tpl16Gt | Transgenic insertion | Unknown | Unknown | DNA | |
| uab447 | Allele with one deletion | Unknown | Unknown | not specified |
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No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hypotonia, ataxia, and delayed development syndrome | Alliance | Hypotonia, ataxia, and delayed development syndrome | 617330 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018350 | Transcription factor COE, conserved site |
| Domain | IPR002909 | IPT domain |
| Domain | IPR032200 | Transcription factor COE, DNA-binding domain |
| Domain | IPR032201 | Transcription factor COE, helix-loop-helix domain |
| Domain | IPR038006 | Transcription factor COE, IPT domain |
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Domain Details Per Protein
| Protein | Length | Immunoglobulin E-set | Immunoglobulin-like fold | IPT domain | Transcription factor COE | Transcription factor COE, conserved site | Transcription factor COE, DNA-binding domain | Transcription factor COE, DNA-binding domain superfamily | Transcription factor COE, helix-loop-helix domain | Transcription factor COE, IPT domain |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A286Y8W0
|
584 | |||||||||
|
UniProtKB:A0A8M3B4V8
|
587 | |||||||||
|
UniProtKB:A0A8M2B2S0
|
557 | |||||||||
|
UniProtKB:A0A8M2B3A0
|
593 | |||||||||
|
UniProtKB:A0A8M2B3A6
|
547 |
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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 | CH211-221J21 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:158829 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:191445 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001080602 (1) | 2875 nt | ||
| Genomic | GenBank:AL954339 (1) | 203958 nt | ||
| Polypeptide | UniProtKB:A0A8M3BEC3 (1) | 597 aa |
- England, S.J., Rusnock, A.K., Mujcic, A., Kowalchuk, A., de Jager, S., Hilinski, W.C., Juárez-Morales, J.L., Smith, M.E., Grieb, G., Banerjee, S., Lewis, K.E. (2023) Molecular analyses of zebrafish V0v spinal interneurons and identification of transcriptional regulators downstream of Evx1 and Evx2 in these cells. Neural Development. 18:88
- Lange, C., Rost, F., Machate, A., Reinhardt, S., Lesche, M., Weber, A., Kuscha, V., Dahl, A., Rulands, S., Brand, M. (2020) Single cell sequencing of radial glia progeny reveals diversity of newborn neurons in the adult zebrafish brain. Development (Cambridge, England). 147(1):
- Lush, M.E., Diaz, D.C., Koenecke, N., Baek, S., Boldt, H., St Peter, M.K., Gaitan-Escudero, T., Romero-Carvajal, A., Busch-Nentwich, E.M., Perera, A.G., Hall, K.E., Peak, A., Haug, J.S., Piotrowski, T. (2019) scRNA-Seq reveals distinct stem cell populations that drive hair cell regeneration after loss of Fgf and Notch signaling. eLIFE. 8:
- Takeuchi, M., Yamaguchi, S., Sakakibara, M., Hayashi, T., Matsuda, K., Hara, Y., Tanegashima, C., Shimizu, T., Kuraku, S., Hibi, M. (2017) Gene expression profiling of granule cells and Purkinje cells in the zebrafish cerebellum. The Journal of comparative neurology. 525(7):1558-1585
- Mullally, M., Albrecht, C., Horton, M., Laboissonniere, L.A., Goetz, J.J., Chowdhury, R., Manning, A., Wester, A.K., Bose, Q., Trimarchi, J.M. (2016) Expression Profiling of Developing Zebrafish Retinal Cells. Zebrafish. 13(4):272-80
- Wang, F., Chen, X., Shi, W., Yao, L., Gao, M., Yang, Y., Hao, A. (2015) Zdhhc15b Regulates Differentiation of Diencephalic Dopaminergic Neurons in Zebrafish. Journal of cellular biochemistry. 116(12):2980-91
- Balciuniene, J., Nagelberg, D., Walsh, K., Camerota, D., Georlette, D., Biemar, F., Bellipanni, G., and Balciunas, D. (2013) Efficient disruption of Zebrafish genes using a Gal4-containing gene trap. BMC Genomics. 14(1):619
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- Li, S., Yin, M., Liu, S., Chen, Y., Yin, Y., Liu, T., and Zhou, J. (2010) Expression of ventral diencephalon-enriched genes in zebrafish. Developmental Dynamics : an official publication of the American Association of Anatomists. 239(12):3368-3379
- Wang, Y., Chen, K., Yao, Q., Zheng, X., and Yang, Z. (2009) Phylogenetic Analysis of Zebrafish Basic Helix-Loop-Helix Transcription Factors. Journal of molecular evolution. 68(6):629-640
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