| Gene Information | |
|---|---|
| Gene Name | MITF |
| Organism | Homo sapiens (Human) |
| Gene Length | 526 |
| Protein Names | Microphthalmia-associated transcription factor (Class E basic helix-loop-helix protein 32) (bHLHe32) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 987 ( ENSG00000187098 ) |
| Evolutionary Stage | Eumetazoa |
| AlphaFoldDB | O75030 |
| Gene Card | MITF |
| Uniprot ID | O75030 |
| Pfam | PF11851; PF00010; PF15951 |
| In ASD | no |
| Allosteric Prediction | yes (0.405513335) |
| Ortholog in Animals | Alpaca_ MITF ( ortholog_one2one ) Dog_ MITF ( ortholog_one2one ) GuineaPig_ MITF ( ortholog_one2one ) Macaque_ MITF ( ortholog_one2one ) Mouse_ Mitf ( ortholog_one2one ) Pig_ MITF ( ortholog_one2one ) Rat_ Mitf ( ortholog_one2one ) Rabbit_ MITF ( ortholog_one2one ) |
| Ohnologs | TFE3, TFEC, TFEB |
| Paralogs | TFE3, TFEB, TFEC |
| Tissue | NA |
| Tissue Specificity | Expressed in melanocytes (at protein level). {ECO:0000269|PubMed:28842328}.; [Isoform A2]: Expressed in the retinal pigment epithelium, brain, and placenta (PubMed:9647758). Expressed in the kidney (PubMed:9647758, PubMed:10578055). {ECO:0000269|PubMed:10578055, ECO:0000269|PubMed:9647758}.; [Isoform C2]: Expressed in the kidney and retinal pigment epithelium. {ECO:0000269|PubMed:10578055}.; [Isoform H1]: Expressed in the kidney. {ECO:0000269|PubMed:10578055, ECO:0000269|PubMed:9647758}.; [Isoform H2]: Expressed in the kidney. {ECO:0000269|PubMed:10578055, ECO:0000269|PubMed:9647758}.; [Isoform M1]: Expressed in melanocytes. {ECO:0000269|PubMed:20163701}.; [Isoform Mdel]: Expressed in melanocytes. {ECO:0000269|PubMed:20163701}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);NULL(Rat);0.066667(Rabbit) |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 4C7N (X-ray 2.10A ) 7D8R (X-ray 3.00A ) 7D8S (X-ray 2.28A ) 7D8T (X-ray 3.20A ) |
| DBSNP | rs1559742541 rs1057519325 rs104893745 rs1057519326 rs1553704814 rs104893744 rs104893747 rs149617956 |
| Subcellular location [CC] | Nucleus {ECO:0000269|PubMed:27889061, ECO:0000269|PubMed:28842328}. Cytoplasm {ECO:0000269|PubMed:28842328}. Note=Found exclusively in the nucleus upon phosphorylation. {ECO:0000269|PubMed:28842328}. |
| Mouse PG classification | HPG |
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