About Microphthalmia-associated transcription factor
Microphthalmia-associated transcription factor (MITF) is a protein
from Homo sapiens identified by UniProt accession
O75030, 526 residues long.
MolForge cross-references it against 0 known binders and
993 disease associations.
Target properties
| Protein name | Microphthalmia-associated transcription factor |
| UniProt accession | O75030 |
| Gene | MITF |
| Organism | Homo sapiens |
| Length | 526 residues |
| Molecular weight | — |
| EC numbers | — |
| Target class | UNCLASSIFIED |
| Subcellular location | — |
| Keywords | — |
Druggability
Target tractability assessment (Open Targets + pocket analysis). No approved drug
| Druggability tier | MEDIUM |
| Druggability score | — |
| Pocket score | — |
| Max clinical phase | — |
Disease associations (993)
Diseases linked to this target (Open Targets).
- Waardenburg syndrome type 2A · score 0.81
- Tietz syndrome · score 0.79
- coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness · score 0.75
- cutaneous melanoma · score 0.71
- melanoma, cutaneous malignant, susceptibility to, 8 · score 0.70
- Ocular albinism with congenital sensorineural deafness · score 0.59
- Waardenburg syndrome · score 0.55
- Waardenburg syndrome type 2 · score 0.54
- hemoglobin measurement · score 0.51
- Rare genetic deafness · score 0.48
3D Structure (1)
Experimental (PDB) and predicted (AlphaFold) structures for this protein.
| Structure | Source | Method | Mean pLDDT | Resolution (Å) |
| AF-O75030-F1 | alphafold | PREDICTED | 60.78 | — |
Amino-acid sequence (526 residues)
MQSESGIVPD FEVGEEFHEE PKTYYELKSQ PLKSSSSAEH PGASKPPISS SSMTSRILLR QQLMREQMQE QERREQQQKL QAAQFMQQRV PVSQTPAINV SVPTTLPSAT QVPMEVLKVQ THLENPTKYH IQQAQRQQVK QYLSTTLANK HANQVLSLPC PNQPGDHVMP PVPGSSAPNS PMAMLTLNSN CEKEGFYKFE EQNRAESECP GMNTHSRASC MQMDDVIDDI ISLESSYNEE ILGLMDPALQ MANTLPVSGN LIDLYGNQGL PPPGLTISNS CPANLPNIKR ELTACIFPTE SEARALAKER QKKDNHNLIE RRRRFNINDR IKELGTLIPK SNDPDMRWNK GTILKASVDY IRKLQREQQR AKELENRQKK LEHANRHLLL RIQELEMQAR AHGLSLIPST GLCSPDLVNR IIKQEPVLEN CSQDLLQHHA DLTCTTTLDL TDGTITFNNN LGTGTEANQA YSVPTKMGSK LEDILMDDTL SPVGVTDPLL SSVSPGASKT SSRRSSMSME ETEHTC
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