Gene
dot1l
- ID
- ZDB-GENE-060503-341
- Name
- DOT1-like histone H3K79 methyltransferase
- Symbol
- dot1l Nomenclature History
- Previous Names
-
- si:dkey-211f22.1
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Predicted to enable histone H3K79 methyltransferase activity. Acts upstream of or within canonical Wnt signaling pathway and intestinal epithelial structure maintenance. Predicted to be active in nucleus. Is expressed in hindbrain; intestine; and midbrain. Human ortholog(s) of this gene implicated in acute biphenotypic leukemia. Orthologous to human DOT1L (DOT1 like histone lysine methyltransferase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Mahmoudi et al., 2010
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa1413 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa17278 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa17639 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa37502 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa39369 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa43825 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa43826 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa44985 | Allele with one point mutation | Unknown | Unknown | ENU |
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Human Disease
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Histone H3-K79 methyltransferase | Histone-lysine N-methyltransferase DOT1 domain | S-adenosyl-L-methionine-dependent methyltransferase superfamily |
|---|---|---|---|---|---|
| UniProtKB:A0A8M3AUT9 | InterPro | 1372 | |||
| UniProtKB:A0A8M2BHW6 | InterPro | 1523 | |||
| UniProtKB:A0A8M3AXT4 | InterPro | 1522 |
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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-211F22 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_005170534 (1) | |||
| Genomic | GenBank:AL773593 (1) | 202726 nt | ||
| Polypeptide | UniProtKB:A0A8M2BHW6 (1) | 1523 aa |
- Luo, H., Zhang, Y., Deng, Y., Li, L., Sheng, Z., Yu, Y., Lin, Y., Chen, X., Feng, P. (2021) Nxhl Controls Angiogenesis by Targeting VE-PTP Through Interaction With Nucleolin. Frontiers in cell and developmental biology. 9:728821
- Kara, N., Kent, M.R., Didiano, D., Rajaram, K., Zhao, A., Summerbell, E.R., Patton, J.G. (2019) The miR-216a-Dot1l Regulatory Axis Is Necessary and Sufficient for Müller Glia Reprogramming during Retina Regeneration. Cell Reports. 28:2037-2047.e4
- 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
- Patil, P., Kibiryeva, N., Uechi, T., Marshall, J., O'Brien, J.E., Artman, M., Kenmochi, N., Bittel, D.C. (2015) scaRNAs Regulate Splicing and Vertebrate Heart Development. Biochimica et biophysica acta. Molecular basis of disease. 1852(8):1619-29
- 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
- Mahmoudi, T., Boj, S.F., Hatzis, P., Li, V.S., Taouatas, N., Vries, R.G., Teunissen, H., Begthel, H., Korving, J., Mohammed, S., Heck, A.J., and Clevers, H. (2010) The Leukemia-Associated Mllt10/Af10-Dot1l Are Tcf4/{beta}-Catenin Coactivators Essential for Intestinal Homeostasis. PLoS Biology. 8(11):e1000539
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