Gene
mitfb
- ID
- ZDB-GENE-010919-1
- Name
- melanocyte inducing transcription factor b
- Symbol
- mitfb Nomenclature History
- Previous Names
-
- Mitf1 (1)
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Exhibits DNA-binding transcription factor activity, RNA polymerase II-specific. Involved in melanocyte differentiation and transcription, DNA-templated. Predicted to localize to nucleoplasm. Human ortholog(s) of this gene implicated in Tietz syndrome; Tietze's syndrome; Waardenburg syndrome type 2A; Waardenburg's syndrome; and familial melanoma. Is expressed in olfactory bulb; optic cup; optic vesicle; and visual system. Orthologous to human MITF (melanocyte inducing transcription factor).
- Genome Resources
- Note
-
Accession AF362683 is chimeric.
- Comparative Information
- All Expression Data
- 6 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu230 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
No data available
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Tietz syndrome | Alliance | Tietz albinism-deafness syndrome | 103500 |
Waardenburg syndrome type 2A | Alliance | Waardenburg syndrome, type 2A | 193510 |
COMMAD syndrome | 617306 | ||
{Melanoma, cutaneous malignant, susceptibility to, 8} | 614456 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Helix-loop-helix DNA-binding domain superfamily | MiT/TFE transcription factors, C-terminal | MiT/TFE transcription factors, N-terminal | Myc-type, basic helix-loop-helix (bHLH) domain |
---|---|---|---|---|---|
UniProtKB:A0A8M9PEV1
|
346 | ||||
UniProtKB:F1Q885
|
500 |
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- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
No data available
Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Encodes | EST | eu230 | Thisse et al., 2005 |
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- Bian, W.P., Xie, S.L., Wang, C., Martinovich, G.G., Ma, Y.B., Jia, P.P., Pei, D.S. (2023) mitfa deficiency promotes immune vigor and potentiates antitumor effects in zebrafish. Fish & shellfish immunology. 142:109130
- Bian, C., Chen, W., Ruan, Z., Hu, Z., Huang, Y., Lv, Y., Xu, T., Li, J., Shi, Q., Ge, W. (2020) Genome and Transcriptome Sequencing of casper and roy Zebrafish Mutants Provides Novel Genetic Clues for Iridophore Loss. International Journal of Molecular Sciences. 21(7):
- Armant, O., Gombeau, K., Murat El Houdigui, S., Floriani, M., Camilleri, V., Cavalie, I., Adam-Guillermin, C. (2017) Zebrafish exposure to environmentally relevant concentration of depleted uranium impairs progeny development at the molecular and histological levels. PLoS One. 12:e0177932
- Baek, S.H., Lee, S.H. (2016) Omeprazole inhibits melanin biosynthesis in melan-a cells and zebrafish. Experimental dermatology. 25(3):239-41
- 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
- Baek, S.H., Lee, S.H. (2015) Sesamol decreases melanin biosynthesis in melanocyte cells and zebrafish: Possible involvement of MITF via the intracellular cAMP and p38/JNK signalling pathways. Experimental dermatology. 24(10):761-6
- Li, M., Zhu, F., and Hong, Y. (2013) Differential evolution of duplicated medakafish mitf genes. International journal of biological sciences. 9(5):496-508
- Lane, B.M., and Lister, J.A. (2012) Otx but not mitf transcription factors are required for zebrafish retinal pigment epithelium development. PLoS One. 7(11):e49357
- Lister, J.A., Lane, B.M., Nguyen, A., and Lunney, K. (2011) Embryonic expression of zebrafish MiT family genes tfe3b, tfeb, and tfec. Developmental Dynamics : an official publication of the American Association of Anatomists. 240:2529-2538
- Braasch, I., Brunet, F., Volff, J.N., and Schartl, M. (2009) Pigmentation pathway evolution after whole-genome duplication in fish. Genome biology and evolution. 1:479-493
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