Gene
mitfa
- ID
- ZDB-GENE-990910-11
- Name
- melanocyte inducing transcription factor a
- Symbol
- mitfa Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Enables DNA-binding transcription factor activity, RNA polymerase II-specific. Acts upstream of or within with a positive effect on melanocyte differentiation. Acts upstream of or within several processes, including cellular response to tumor cell; closure of optic fissure; and positive regulation of melanocyte differentiation. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. Is expressed in several structures, including immature eye; iridoblast; melanoblast; neural crest; and pigment cell. Human ortholog(s) of this gene implicated in Tietz syndrome; Tietze's syndrome; Waardenburg syndrome; Waardenburg syndrome type 2A; and familial melanoma. Orthologous to human MITF (melanocyte inducing transcription factor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 98 figures from 71 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:65859 (4 images)
Wild Type Expression Summary
- All Phenotype Data
- 39 figures from 29 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| b692 | Allele with one point mutation | Unknown | Missense | not specified | |
| b1085 | unknown | Unknown | Unknown | not specified | |
| cig11 | Allele with one delins | Exon 2 | Unknown | CRISPR | |
| la025593Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| mitfa_unspecified | Unspecified Allele | Unknown | Unknown | not specified | |
| mpb2 | unknown | Unknown | Unknown | not specified | |
| s170 | unknown | Unknown | Unknown | not specified | |
| s184 | unknown | Unknown | Unknown | not specified | |
| vc7 | Allele with one point mutation | Donor Splice Site of Intron 6 | Intron Gain of Intron 6 | not specified | |
| vp70rc1 | Allele with one deletion | Exon 5 | Unknown | CRISPR |
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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 | Additional Resources | 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:A0A8M9Q5Y7 | InterPro | 411 | ||||
| UniProtKB:Q9PWC2 | InterPro | 412 | ||||
| UniProtKB:A0A8M9QF67 | InterPro | 351 | ||||
| UniProtKB:A0AB13A968 | InterPro | 349 |
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Interactions and Pathways
No data available
Plasmids
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(mitfa:EGFP-Hsa.NRAS_Q61K) |
|
| 2 | (5) | |
| Tg(mitfa:GFP) |
|
| 1 | (35) | |
| Tg(mitfa:Hsa.APP,mitfa:EGFP) |
|
| 2 | (3) | |
| Tg(mitfa:Hsa.BRAF_V600E) |
|
| 2 | (66) | |
| Tg(mitfa:Hsa.BRAF_V600E,mitfa:GFP) |
|
| 1 | (7) | |
| Tg(mitfa:Hsa.HRAS_G12V,mitfa:Bta.Pik3r1) |
|
| 1 | (4) | |
| Tg(mitfa:Hsa.HRAS_G12V,mitfa:GFP) |
|
| 1 | (15) | |
| Tg(mitfa:kcnj2) |
|
| 1 | (4) | |
| Tg(mitfa:kcnj13) |
|
| 1 | (4) | |
| Tg1(mitfa:EGFP) |
|
| 1 | Zebrafish Nomenclature Committee |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-170N20 | ZFIN Curated Data | |
| Encodes | EST | cegs2213 | Rauch et al., 2003 | |
| Encodes | cDNA | MGC:65859 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:77339 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001362262 (1) | 1870 nt | ||
| Genomic | GenBank:BX927362 (2) | 131893 nt | ||
| Polypeptide | UniProtKB:Q9PWC2 (1) | 412 aa |
- Cosentino, C.C., Stevens, M.J.A., Eshwar, A.K., Muchaamba, F., Guldimann, C., Stephan, R., Lehner, A. (2025) Uncovering the Pathogenic Mechanisms of Cronobacter turicensis: A Dual Transcriptomics Study Using a Zebrafish Larvae Model. Microbial pathogenesis. :107374107374
- Daetwyler, S., Mazloom-Farsibaf, H., Zhou, F.Y., Segal, D., Sapoznik, E., Chen, B., Westcott, J.M., Brekken, R.A., Danuser, G., Fiolka, R. (2025) Imaging of cellular dynamics from a whole organism to subcellular scale with self-driving, multiscale microscopy. Nature Methods. :
- Erradhouani, C., Piccini, B., Maillot-Marechal, E., Aït-Aïssa, S., Balaguer, P., Coumoul, X., Brion, F. (2025) New insights into the regulation of cyp3a65 expression in transgenic tg(cyp3a65:GFP) zebrafish embryos. Aquatic toxicology (Amsterdam, Netherlands). 279:107250107250
- Korzeniwsky, K.G., de Mello, P.L.H., Liang, Y., Feltes, M., Farber, S.A., Parichy, D.M. (2025) Dominant Negative Mitf Allele Impacts Melanophore and Xanthophore Development and Reveals Collaborative Interactions With Tfec in Zebrafish Chromatophore Lineages. Pigment cell & melanoma research. 38:e70009e70009
- Kroll, F., Donnelly, J., Özcan, G.G., Mackay, E., Rihel, J. (2025) Behavioural pharmacology predicts disrupted signalling pathways and candidate therapeutics from zebrafish mutants of Alzheimer's disease risk genes. eLIFE. 13:
- Lin, S.J., Huang, K., Petree, C., Qin, W., Varshney, P., Varshney, G.K. (2025) Optimizing gRNA selection for high-penetrance F0 CRISPR screening for interrogating disease gene function. Nucleic acids research. 53:
- Mizoguchi, T., Maki, A., Nakase, Y., Okita, M., Minami, Y., Fukunaga, M., Itoh, M. (2025) Neurological function is restored post-ischemic stroke in zebrafish, with aging exerting a deleterious effect on its pathology. Brain research bulletin. :111225111225
- Olayinka, O., Ryu, H., Wang, X., Malik, A.B., Jung, H.M. (2025) Compensatory lymphangiogenesis is required for edema resolution in zebrafish. Scientific Reports. 15:81778177
- Ramakrishnan, G., Miskolci, V., Hunter, M., Giese, M.A., Münch, D., Hou, Y., Eliceiri, K.W., Lasarev, M.R., White, R.M., Huttenlocher, A. (2025) Real-time imaging reveals a role for macrophage protrusive motility in melanoma invasion. The Journal of cell biology. 224(2):
- Ter Horst, S., Siekierska, A., De Meulemeester, A.S., Cuvry, A., Cools, L., Neyts, J., de Witte, P., Rocha-Pereira, J. (2025) The Dissemination of Rift Valley Fever Virus to the Eye and Sensory Neurons of Zebrafish Larvae Is Stat1-Dependent. Viruses. 17:
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