Gene
atxn1b
- ID
- ZDB-GENE-061218-2
- Name
- ataxin 1b
- Symbol
- atxn1b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to enable RNA binding activity and chromatin binding activity. Predicted to be involved in brain development and negative regulation of transcription by RNA polymerase II. Predicted to act upstream of or within regulation of DNA-templated transcription. Located in nucleus. Is expressed in brain and cerebellum. Human ortholog(s) of this gene implicated in spinocerebellar ataxia type 1. Orthologous to human ATXN1 (ataxin 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 11 figures from 6 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 |
|---|---|---|---|---|---|
| ihb841 | Allele with one deletion | Exon 2 | Unknown | CRISPR | |
| ihb842 | Allele with one deletion | Exon 2 | Unknown | CRISPR | |
| la019660Tg | Transgenic insertion | Unknown | Unknown | DNA |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-atxn1b | (2) | |
| CRISPR2-atxn1b | (2) | |
| CRISPR3-atxn1b | (2) | |
| CRISPR4-atxn1b | (2) | |
| CRISPR5-atxn1b | (2) | |
| CRISPR6-atxn1b | (2) | |
| CRISPR7-atxn1b | (2) | |
| CRISPR8-atxn1b | Zebrafish Nomenclature Committee | |
| CRISPR9-atxn1b | Zebrafish Nomenclature Committee | |
| CRISPR10-atxn1b | Zebrafish Nomenclature Committee |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| spinocerebellar ataxia type 1 | Alliance | Spinocerebellar ataxia 1 | 164400 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | ATAXIN1-like | Ataxin-1, N-terminal | Ataxin, AXH domain | Ataxin, AXH domain superfamily |
|---|---|---|---|---|---|---|
| UniProtKB:E7F6Z5 | InterPro | 827 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
atxn1b-201
(1)
|
Ensembl | 8,697 nt | ||
| mRNA |
atxn1b-202
(1)
|
Ensembl | 2,682 nt |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-222P22 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_005158159 (1) | 8210 nt | ||
| Genomic | GenBank:CR388381 (1) | 141855 nt | ||
| Polypeptide | UniProtKB:E7F6Z5 (1) | 827 aa |
- Zebrafish Nomenclature Committee (2024) Nomenclature Data Curation (2024). Nomenclature Committee Submission.
- Vauti, F., Vögele, V., Deppe, I., Hahnenstein, S.T., Köster, R.W. (2021) Structural Analysis and Spatiotemporal Expression of Atxn1 Genes in Zebrafish Embryos and Larvae. International Journal of Molecular Sciences. 22(21):
- Wu, X., Zhang, H., Zhang, B., Zhang, Y., Wang, Q., Shen, W., Wu, X., Li, L., Xia, W., Nakamura, R., Liu, B., Liu, F., Takeda, H., Meng, A., Xie, W. (2021) Methylome inheritance and enhancer dememorization reset an epigenetic gate safeguarding embryonic programs. Science advances. 7:eabl3858
- Gangras, P., Gallagher, T.L., Parthun, M.A., Yi, Z., Patton, R.D., Tietz, K.T., Deans, N.C., Bundschuh, R., Amacher, S.L., Singh, G. (2020) Zebrafish rbm8a and magoh mutants reveal EJC developmental functions and new 3'UTR intron-containing NMD targets. PLoS Genetics. 16:e1008830
- Vauti, F., Stegemann, L.A., Vögele, V., Köster, R.W. (2020) All-age whole mount in situ hybridization to reveal larval and juvenile expression patterns in zebrafish. PLoS One. 15:e0237167
- Francois-Moutal, L., Jahanbakhsh, S., Nelson, A., Ray, D., Scott, D.D., Hennefarth, M., Moutal, A., Perez-Miller, S., Ambrose, A.J., Al-Shamari, A., Coursodon, P., Meechoovet, B., Reiman, R., Lyons, E., Beilstein, M., Chapman, E., Morris, Q.D., Van Keuren-Jensen, K., Hughes, T.R., Khanna, R., Koehler, C., Jen, J., Gokhale, V., Khanna, M. (2018) A Chemical Biology Approach to Model Pontocerebellar Hypoplasia Type 1B (PCH1B). ACS Chemical Biology. 13(10):3000-3010
- Emerson, S.E., St Clair, R.M., Waldron, A.L., Bruno, S.R., Duong, A., Driscoll, H.E., Ballif, B.A., McFarlane, S., Ebert, A.M. (2017) Identification of target genes downstream of Semaphorin6A/PlexinA2 signaling in zebrafish. Developmental Dynamics : an official publication of the American Association of Anatomists. 246(7):539-549
- Lei, L., Yan, S.Y., Yang, R., Chen, J.Y., Li, Y., Bu, Y., Chang, N., Zhou, Q., Zhu, X., Li, C.Y., Xiong, J.W. (2017) Spliceosomal protein eftud2 mutation leads to p53-dependent apoptosis in zebrafish neural progenitors. Nucleic acids research. 45(6):3422-3436
- 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
- Giunta, M., Edvardson, S., Xu, Y., Schuelke, M., Gomez-Duran, A., Boczonadi, V., Elpeleg, O., Müller, J.S., Horvath, R. (2016) Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy. Human molecular genetics. 25(14):2985-2996
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