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 | |
| w2 | 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 |
|---|---|---|---|
| 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 |
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 |
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 | (64) | |
| 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 | (14) | |
| 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 |
- 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):
- Akçaöz-Alasar, A., Tüncel, Ö., Sağlam, B., Gazaloğlu, Y., Atbinek, M., Cagiral, U., Iscan, E., Ozhan, G., Akgül, B. (2024) Epitranscriptomics m6 A analyses reveal distinct m6 A marks under tumor necrosis factor α (TNF-α)-induced apoptotic conditions in HeLa cells. Journal of Cellular Physiology. 239(4):e31176
- Arroyo, A.B., Tyrkalska, S.D., Bastida-Martínez, E., Monera-Girona, A.J., Cantón-Sandoval, J., Bernal-Carrión, M., García-Moreno, D., Elías-Arnanz, M., Mulero, V. (2024) Peds1 deficiency in zebrafish results in myeloid cell apoptosis and exacerbated inflammation. Cell death discovery. 10:388388
- Baril, S.A., Wilson, K.A., Shaik, M.M., Fukuda, Y., Umans, R.A., Barbieri, A., Lynch, J., Gose, T., Myasnikov, A., Oldham, M.L., Wang, Y., Zhu, J., Fang, J., Zuo, J., Kalathur, R.C., Ford, R.C., Coffin, A., Taylor, M.R., O'Mara, M.L., Schuetz, J.D. (2024) The role of ATP-binding Cassette subfamily B member 6 in the inner ear. Nature communications. 15:98859885
- Baykal, S., Yuce, Z., Ozhan, G. (2024) Phenotypically plastic drug-resistant chronic myeloid leukaemia cell line displays enhanced cellular dynamics in a zebrafish xenograft model. Journal of Cellular and Molecular Medicine. 28:e70105e70105
- Bellantoni, E., Marini, M., Chieca, M., Gabellini, C., Crapanzano, E.L., Souza Monteiro de Araujo, D., Nosi, D., Roschi, L., Landini, L., De Siena, G., Pensieri, P., Mastricci, A., Scuffi, I., Geppetti, P., Nassini, R., De Logu, F. (2024) Schwann cell transient receptor potential ankyrin 1 (TRPA1) ortholog in zebrafish larvae mediates chemotherapy-induced peripheral neuropathy. British journal of pharmacology. 181(23):4859-4873
- Bin, J.M., Suminaite, D., Benito-Kwiecinski, S.K., Kegel, L., Rubio-Brotons, M., Early, J.J., Soong, D., Livesey, M.R., Poole, R.J., Lyons, D.A. (2024) Importin 13-dependent axon diameter growth regulates conduction speeds along myelinated CNS axons. Nature communications. 15:17901790
- Brennan, E.J., Monk, K.R., Li, J. (2024) A zebrafish gephyrinb mutant distinguishes synaptic and enzymatic functions of Gephyrin. Neural Development. 19:1414
- Casey, M.J., Chan, P.P., Li, Q., Zu, J.F., Jette, C.A., Kohler, M., Myers, B.R., Stewart, R.A. (2024) A simple and scalable zebrafish model of Sonic hedgehog medulloblastoma. Cell Reports. 43:114559114559
- Crespo, J.R., Martín-Martín, N., Garcia-Longarte, S., Corres-Mendizabal, J., Carlevaris, O., Astobiza, I., Zabala-Letona, A., Guiu, M., Azkargorta, M., Gonzalez-Lopez, M., Macías-Cámara, N., Doan, P., Elortza, F., Mendizabal, I., Westermack, J., Gomis, R.R., Ercilla, A., Carracedo, A. (2024) The PP2A regulator IER5L supports prostate cancer progression. Cell Death & Disease. 15:514514
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