Gene
asxl1
- ID
- ZDB-GENE-091116-9
- Name
- ASXL transcriptional regulator 1
- Symbol
- asxl1 Nomenclature History
- Previous Names
-
- si:dkey-202m22.4
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to enable chromatin binding activity and peroxisome proliferator activated receptor binding activity. Acts upstream of or within monocyte proliferation and regulation of neutrophil differentiation. Predicted to be located in nucleus. Predicted to be part of PR-DUB complex. Is expressed in head kidney; immature eye; lateral mesoderm; and nervous system. Used to study myeloproliferative neoplasm. Human ortholog(s) of this gene implicated in SM-AHNMD; acute myeloid leukemia; chronic myelomonocytic leukemia; myelodysplastic syndrome; and myelofibrosis. Orthologous to human ASXL1 (ASXL transcriptional regulator 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 13 figures from 2 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa32451 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa44017 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa45806 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa45807 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sm18 | Allele with one deletion | Exon 12 | Unknown | CRISPR | |
| sm19 | Allele with one deletion | Exon 12 | Unknown | CRISPR | |
| zdf34 | Allele with one deletion | Exon 2 | Premature Stop | TALEN | |
| zdf35 | Allele with one deletion | Exon 2 | Premature Stop | TALEN |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-asxl1 | Fang et al., 2021 | |
| CRISPR2-asxl1 | Avagyan et al., 2021 | |
| MO1-asxl1 | N/A | Huang et al., 2013 |
| MO2-asxl1 | N/A | Castro et al., 2020 |
| MO3-asxl1 | N/A | Fang et al., 2021 |
| TALEN1-asxl1 | Gjini et al., 2019 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| myelodysplastic syndrome | Alliance | Myelodysplastic syndrome, somatic | 614286 |
| Bohring-Opitz syndrome | 605039 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| myeloproliferative neoplasm | asxl1zdf34/+ | standard conditions | Gjini et al., 2019 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | ASX, DEUBAD domain | ASXL, HARE-HTH domain | DEUBAD domain | Polycomb protein ASX/ASX-like | Protein ASX-like, PHD domain |
|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M2B9F5
|
1659 |
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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 | DKEY-202M22 | ZFIN Curated Data | |
| Contains | STS | chunp30526 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001386454 (1) | 6045 nt | ||
| Genomic | GenBank:AL845357 (2) | 221012 nt | ||
| Polypeptide | UniProtKB:A0A8M2B9F5 (1) | 1659 aa |
- Castro, V.L., Paz, D., Virrueta, V., Estevao, I.L., Grajeda, B.I., Ellis, C.C., Quintana, A.M. (2023) Missense and nonsense mutations of the zebrafish hcfc1a gene result in contrasting mTor and radial glial phenotypes. Gene. 864:147290
- Pezzotta, A., Gentile, I., Genovese, D., Totaro, M.G., Battaglia, C., Leung, A.Y., Fumagalli, M., Parma, M., Cazzaniga, G., Fazio, G., Alcalay, M., Marozzi, A., Pistocchi, A. (2022) HDAC6 inhibition decreases leukemic stem cell expansion driven by Hedgehog hyperactivation by restoring primary ciliogenesis. Pharmacological research. 183:106378
- Avagyan, S., Henninger, J.E., Mannherz, W.P., Mistry, M., Yoon, J., Yang, S., Weber, M.C., Moore, J.L., Zon, L.I. (2021) Resistance to inflammation underlies enhanced fitness in clonal hematopoiesis. Science (New York, N.Y.). 374:768-772
- Fang, X., Xu, S., Zhang, Y., Xu, J., Huang, Z., Liu, W., Wang, S., Yen, K., Zhang, W. (2021) Asxl1 C-terminal mutation perturbs neutrophil differentiation in zebrafish. Leukemia. 35(8):2299-2310
- Castro, V.L., Reyes, J.F., Reyes-Nava, N.G., Paz, D., Quintana, A.M. (2020) Hcfc1a regulates neural precursor proliferation and asxl1 expression in the developing brain. BMC Neuroscience. 21:27
- Gjini, E., Jing, C.B., Nguyen, A.T., Reyon, D., Gans, E., Kesarsing, M., Peterson, J., Pozdnyakova, O., Rodig, S.J., Mansour, M.R., Joung, K., Look, A.T. (2019) Disruption of asxl1 results in myeloproliferative neoplasms in zebrafish. Disease models & mechanisms. 12(5):
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Huang, H.T., Kathrein, K.L., Barton, A., Gitlin, Z., Huang, Y.H., Ward, T.P., Hofmann, O., Dibiase, A., Song, A., Tyekucheva, S., Hide, W., Zhou, Y., and Zon, L.I. (2013) A network of epigenetic regulators guides developmental haematopoiesis in vivo. Nature cell biology. 15(12):1516-1525
- Geisler, R., Rauch, G.J., Baier, H., van Bebber, F., Brobeta, L., Dekens, M.P., Finger, K., Fricke, C., Gates, M.A., Geiger, H., Geiger-Rudolph, S., Gilmour, D., Glaser, S., Gnugge, L., Habeck, H., Hingst, K., Holley, S., Keenan, J., Kirn, A., Knaut, H., Lashkari, D., Maderspacher, F., Martyn, U., Neuhauss, S., Neumann, C., Nicolson, T., Pelegri, F., Ray, R., Rick, J.M., Roehl, H., Roeser, T., Schauerte, H.E., Schier, A.F., Schönberger, U., Schönthaler, H.-B., Schulte-Merker, S., Seydler, C., Talbot, W.S., Weiler, C., Nüsslein-Volhard, C., and Haffter, P. (1999) A radiation hybrid map of the zebrafish genome. Nature Genetics. 23(1):86-89
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