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MITF (NM_000248) - melanocyte inducing transcription factor

Microphthalmia-Associated Transcription Factor Isoform 4

PTM Interaction Network Visualisation

Protein summary

This is an alternative isoform of MITF protein. View all 8 isoforms
MITF: microphthalmia-associated transcription factor isoform 4
Description:

The protein encoded by this gene is a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. The encoded protein regulates melanocyte development and is responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. [provided by RefSeq, Aug 2017].

Strand
+
Chromosome
3
Protein
419 residues
All mutations
96
PTM sites
8
CDS
69,985,873 - 70,014,399
Transcription
69,985,750 - 70,017,488
64.92% of sequence is predicted to be disordered

Usage summary

Network

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PTM site

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Kinases group

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Kinase, PTM site or protein

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 4286
UniProt
Ensembl