Gene
mafbb
- ID
- ZDB-GENE-010605-4
- Name
- v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog Bb
- Symbol
- mafbb Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Enables sequence-specific DNA binding activity. Acts upstream of or within regulation of myeloid leukocyte differentiation and skeletal system development. Predicted to be active in nucleus. Is expressed in several structures, including immune system; mesoderm; nervous system; pleuroperitoneal region; and vein. Human ortholog(s) of this gene implicated in Duane retraction syndrome 3 and multicentric carpotarsal osteolysis syndrome. Orthologous to human MAFB (MAF bZIP transcription factor B).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 21 figures from 8 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:114026 (16 images)
- eu239 (20 images)
Wild Type Expression Summary
- All Phenotype Data
- 6 figures from Han et al., 2021
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
hkz56 | Allele with multiple variants | Unknown | Unknown | CRISPR | |
sa7349 | Allele with one point mutation | Unknown | Missense | ENU | |
uq47bh | Allele with one deletion | Unknown | Unknown | CRISPR | |
zf3556 | Allele with one deletion | Exon 1 | Unknown | CRISPR | |
zf3557 | Allele with one delins | Unknown | Unknown | CRISPR |
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Targeting Reagent | Created Alleles | Citations |
---|---|---|
CRISPR1-mafbb | Oel et al., 2020 | |
CRISPR2-mafbb | Oel et al., 2020 | |
CRISPR3-mafbb | Han et al., 2021 | |
CRISPR4-mafbb | Han et al., 2021 | |
CRISPR5-mafbb | (2) | |
CRISPR6-mafbb | Lou et al., 2022 |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Duane retraction syndrome 3 | Alliance | Duane retraction syndrome 3 | 617041 |
multicentric carpotarsal osteolysis syndrome | Alliance | Multicentric carpotarsal osteolysis syndrome | 166300 |
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Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR004826 | Basic leucine zipper domain, Maf-type |
Domain | IPR004827 | Basic-leucine zipper domain |
Domain | IPR013592 | Maf transcription factor, N-terminal |
Family | IPR024874 | Transcription factor Maf family |
Homologous_superfamily | IPR008917 | Transcription factor, Skn-1-like, DNA-binding domain superfamily |
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Domain Details Per Protein
Protein | Additional Resources | Length | Basic-leucine zipper domain | Basic leucine zipper domain, Maf-type | Basic-leucine zipper domain superfamily | Maf transcription factor, N-terminal | Transcription factor Maf family | Transcription factor, Skn-1-like, DNA-binding domain superfamily |
---|---|---|---|---|---|---|---|---|
UniProtKB:Q6P5N3 | InterPro | 318 |
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Interactions and Pathways
No data available
Plasmids
No data available
Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
---|---|---|---|---|---|
Tg2(mafbb:EGFP) |
|
| 1 | Han et al., 2021 | |
Tg(mafbb:EGFP) |
|
| 1 | Arnold et al., 2022 | |
Tg(mfap4.1:mafbb-2A-DsRedx) |
| 1 | Lou et al., 2022 |
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Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | DKEYP-97E7 | ZFIN Curated Data | |
Encodes | EST | eu239 | Thisse et al., 2005 | |
Encodes | cDNA | MGC:77569 | ZFIN Curated Data | |
Encodes | cDNA | MGC:114026 | ZFIN Curated Data | |
Encodes | cDNA | MGC:191517 | ZFIN Curated Data | |
Encodes | cDNA | MGC:193775 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_131842 (1) | 1633 nt | ||
Genomic | GenBank:CR932000 (1) | 77992 nt | ||
Polypeptide | UniProtKB:Q6P5N3 (1) | 318 aa |
- Arnold, H., Panara, V., Hußmann, M., Filipek-Gorniok, B., Skoczylas, R., Ranefall, P., Gloger, M., Allalou, A., Hogan, B.M., Schulte-Merker, S., Koltowska, K. (2022) mafba and mafbb differentially regulate lymphatic endothelial cell migration in topographically distinct manners. Cell Reports. 39:110982
- Deng, Y., Wang, H., Liu, X., Yuan, H., Xu, J., de Thé, H., Zhou, J., Zhu, J. (2022) Zbtb14 regulates monocyte and macrophage development through inhibiting pu.1 expression in zebrafish. eLIFE. 11:
- Liu, F., Qin, Y., Huang, Y., Gao, P., Li, J., Yu, S., Jia, D., Chen, X., Lv, Y., Tu, J., Sun, K., Han, Y., Reilly, J., Shu, X., Lu, Q., Tang, Z., Xu, C., Luo, D., Liu, M. (2022) Rod genesis driven by mafba in an nrl knockout zebrafish model with altered photoreceptor composition and progressive retinal degeneration. PLoS Genetics. 18:e1009841
- Lou, L., Yu, T., Dai, Y., Zhao, S., Feng, S., Xu, J., Wen, Z. (2022) Mafba and Mafbb regulate microglial colonization of zebrafish brain via controlling chemotaxis receptor expression. Proceedings of the National Academy of Sciences of the United States of America. 119:e2203273119
- Chen, X., Huang, Y., Gao, P., Lv, Y., Jia, D., Sun, K., Han, Y., Hu, H., Tang, Z., Ren, X., Liu, M. (2021) Knockout of mafba Causes Inner-Ear Developmental Defects in Zebrafish via the Impairment of Proliferation and Differentiation of Ionocyte Progenitor Cells. Biomedicines. 9(11):
- Han, Y., Shao, W., Zhong, D., Ma, C., Wei, X., Ahmed, A., Yu, T., Jing, W., Jing, L. (2021) Zebrafish mafbb Mutants Display Osteoclast Over-Activation and Bone Deformity Resembling Osteolysis in MCTO Patients. Biomolecules. 11(3):
- Oel, A.P., Neil, G.J., Dong, E.M., Balay, S.D., Collett, K., Allison, W.T. (2020) Nrl Is Dispensable for Specification of Rod Photoreceptors in Adult Zebrafish Despite Its Deeply Conserved Requirement Earlier in Ontogeny. iScience. 23:101805
- Quillien, A., Abdalla, M., Yu, J., Ou, J., Zhu, L.J., Lawson, N.D. (2017) Robust Identification of Developmentally Active Endothelial Enhancers in Zebrafish Using FANS-Assisted ATAC-Seq. Cell Reports. 20:709-720
- 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
- Kim, J.W., Yang, H.J., Oel, A.P., Brooks, M.J., Jia, L., Plachetzki, D.C., Li, W., Allison, W.T., Swaroop, A. (2016) Recruitment of Rod Photoreceptors from Short-Wavelength-Sensitive Cones during the Evolution of Nocturnal Vision in Mammals. Developmental Cell. 37:520-532
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