Gene
blm
- ID
- ZDB-GENE-070702-5
- Name
- BLM RecQ like helicase
- Symbol
- blm Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to have 3'-5' DNA helicase activity and four-way junction helicase activity. Involved in negative regulation of mitotic recombination. Predicted to localize to chromosome; cytoplasm; and nucleus. Human ortholog(s) of this gene implicated in Bloom syndrome. Is expressed in several structures, including otic vesicle; pericardial region; presumptive neural retina; retina; and ventricular system. Orthologous to human BLM (BLM RecQ like helicase).
- Genome Resources
- Note
- None
- 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
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
elu10 | Allele with one delins | Unknown | Unknown | CRISPR | |
hu3281 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
kh53 | Allele with one delins | Unknown | Frameshift | not specified | |
la013242Tg | Transgenic insertion | Unknown | Unknown | DNA | |
la020360Tg | Transgenic insertion | Unknown | Unknown | DNA | |
sa13236 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa15754 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa16619 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa23311 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa31025 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Bloom syndrome | Alliance | Bloom syndrome | 210900 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | ATP-dependent DNA helicase RecQ, zinc-binding domain | BDHCT | DEAD/DEAH box helicase domain | DNA helicase, ATP-dependent, RecQ type | DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site | Helicase, C-terminal domain-like | Helicase superfamily 1/2, ATP-binding domain | HRDC domain | HRDC domain superfamily | HRDC-like superfamily | P-loop containing nucleoside triphosphate hydrolase | RecQ-like DNA helicase BLM, N-terminal domain | RQC domain | Winged helix DNA-binding domain superfamily | Winged helix-like DNA-binding domain superfamily |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8M6YUA3
|
1450 | |||||||||||||||
UniProtKB:E7EZY7
|
1420 | |||||||||||||||
UniProtKB:A0A8M6YW51
|
1439 |
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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 | CH211-234P18 |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:XM_021467812 (1) | 4699 nt | ||
Genomic | GenBank:CR450750 (1) | 78721 nt | ||
Polypeptide | UniProtKB:A0A8M6YUA3 (1) | 1450 aa |
- Wang, D., Zheng, L., Cheng, B.Y.L., Sin, C.F., Li, R., Tsui, S.P., Yi, X., Ma, A.C.H., He, B.L., Leung, A.Y.H., Sun, X. (2023) Transgenic IDH2R172K and IDH2R140Q zebrafish models recapitulated features of human acute myeloid leukemia. Oncogene. 42(16):1272-1281
- Annus, T., Müller, D., Jezsó, B., Ullaga, G., Németh, B., Harami, G.M., Orbán, L., Kovács, M., Varga, M. (2022) Bloom syndrome helicase contributes to germ line development and longevity in zebrafish. Cell Death & Disease. 13:363
- Shin, U., Nakhro, K., Oh, C.K., Carrington, B., Song, H., Varshney, G.K., Kim, Y., Song, H., Jeon, S., Robbins, G., Kim, S., Yoon, S., Choi, Y.J., Kim, Y.J., Burgess, S., Kang, S., Sood, R., Lee, Y., Myung, K. (2021) Large-scale generation and phenotypic characterization of zebrafish CRISPR mutants of DNA repair genes. DNA repair. 107:103173
- Xie, H., Kang, Y., Wang, S., Zheng, P., Chen, Z., Roy, S., Zhao, C. (2020) E2f5 is a versatile transcriptional activator required for spermatogenesis and multiciliated cell differentiation in zebrafish. PLoS Genetics. 16:e1008655
- Bian, W.P., Chen, Y., Luo, J., Wang, C., Xie, S., Pei, D. (2019) A knock-in strategy for editing human and zebrafish mitochondrial DNA using mito-CRISPR/Cas9 system. ACS synthetic biology. 8(4):621-632
- 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
- Shi, X., He, B.L., Ma, A.C., Guo, Y., Chi, Y., Man, C.H., Zhang, W., Zhang, Y., Wen, Z., Cheng, T., Leung, A.Y. (2015) Functions of idh1 and its mutation in the regulation of developmental hematopoiesis in zebrafish. Blood. 125(19):2974-84
- 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
- Wang, D., Jao, L.E., Zheng, N., Dolan, K., Ivey, J., Zonies, S., Wu, X., Wu, K., Yang, H., Meng, Q., Zhu, Z., Zhang, B., Lin, S., and Burgess, S.M. (2007) Efficient genome-wide mutagenesis of zebrafish genes by retroviral insertions. Proceedings of the National Academy of Sciences of the United States of America. 104(30):12428-12433
- Xie, J., Bessling, S.L., Cooper, T.K., Dietz, H.C., McCallion, A.S., and Fisher, S. (2007) Manipulating mitotic recombination in the zebrafish embryo through RecQ helicases. Genetics. 176(2):1339-1342
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