MITF Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | MITF |
| Official Name | melanocyte inducing transcription factor [Source:HGNC Symbol;Acc:HGNC:7105] |
| Ensembl ID | ENSG00000187098 |
| Bio databases IDs | |
| Aliases | melanocyte inducing transcription factor, homolog of mouse microphthalmia |
| Synonyms | BCC2, bHLHe32, bw, CMM8, COMMAD, Gsfbcc2, melanocyte inducing transcription factor, melanogenesis associated transcription factor, MI, Microphthalmia-associated transcription factor, vit, Vitiligo, Wh, WS2, WS2A |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MITF often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein dimerization
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- transcription regulator
- nucleic acid binding
- basic Helix Loop Helix (bHLH) domain superfamily
- leucine zipper domain
- chromatin binding
- protein binding
- sequence-specific DNA binding
- DNA binding
- phosphorylation site
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- basic helix-loop-helix-leucine zipper domain
- double-stranded DNA binding
- helix loop helix domain
- MITF/TFEB/TFEC/TFE3 N-terminus
- helix-loop-helix domain
- Domain of unknown function (DUF3371)
- Helix-loop-helix DNA-binding domain
- basic domain
- transcription factor activity
Pathways
Biological processes and signaling networks where the MITF gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- metastasis
- neoplasia
- cancer
- Waardenburg syndrome type 2A
- albinism-deafness syndrome of Tietz
- myocardial infarction
- coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
- organismal death
- Waardenburg syndrome
- melanoma
role in cell
- expression in
- cell viability
- apoptosis
- proliferation
- activation in
- survival
- phosphorylation in
- migration
- growth
- transformation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- Cytoplasm
- cytosol
- lysosome membrane
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MITF gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of RNA biosynthetic process
- bone remodeling
- macromolecular complex assembly
- regulation of transcription, DNA-dependent
- positive regulation of transcription from RNA polymerase II promoter
- regulation of cell proliferation
- regulation of transcription from RNA polymerase II promoter
- osteoclast differentiation
- negative regulation of transcription from RNA polymerase II promoter
- melanocyte differentiation
- positive regulation of transcription, DNA-dependent
- regulation of osteoclast differentiation
- positive regulation of gene expression
- negative regulation of apoptotic process
- cell fate commitment
- camera-type eye development
- Wnt receptor signaling pathway
- positive regulation of transcription initiation, DNA-dependent
- negative regulation of cell migration
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- macromolecular complex
- chromatin
- lysosomal membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- protein dimerization activity
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- chromatin binding
- E-box binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity