MITF report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0030316Biological processosteoclast differentiation
GO_0006357Biological processregulation of transcription by RNA polymerase II
GO_0010628Biological processpositive regulation of gene expression
GO_1902362Biological processmelanocyte apoptotic process
GO_2001141Biological processregulation of RNA biosynthetic process
GO_0000122Biological processnegative regulation of transcription by RNA polymerase II
GO_0065003Biological processprotein-containing complex assembly
GO_0045670Biological processregulation of osteoclast differentiation
GO_0030318Biological processmelanocyte differentiation
GO_0046849Biological processbone remodeling
GO_0045165Biological processcell fate commitment
GO_0045893Biological processpositive regulation of DNA-templated transcription
GO_0043066Biological processnegative regulation of apoptotic process
GO_2000144Biological processpositive regulation of DNA-templated transcription initiation
GO_0006355Biological processregulation of DNA-templated transcription
GO_0030336Biological processnegative regulation of cell migration
GO_0043010Biological processcamera-type eye development
GO_0016055Biological processWnt signaling pathway
GO_0042127Biological processregulation of cell population proliferation
GO_0045944Biological processpositive regulation of transcription by RNA polymerase II
GO_0032991Cellular componentprotein-containing complex
GO_0005654Cellular componentnucleoplasm
GO_0005737Cellular componentcytoplasm
GO_0000785Cellular componentchromatin
GO_0005765Cellular componentlysosomal membrane
GO_0005634Cellular componentnucleus
GO_0000978Molecular functionRNA polymerase II cis-regulatory region sequence-specific DNA binding
GO_0001228Molecular functionDNA-binding transcription activator activity, RNA polymerase II-specific
GO_0001227Molecular functionDNA-binding transcription repressor activity, RNA polymerase II-specific
GO_0000981Molecular functionDNA-binding transcription factor activity, RNA polymerase II-specific
GO_0003682Molecular functionchromatin binding
GO_0070888Molecular functionE-box binding
GO_0046983Molecular functionprotein dimerization activity
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameMITF
Protein nameMicrophthalmia-associated transcription factor (Class E basic helix-loop-helix protein 32) (bHLHe32)
Melanocyte inducing transcription factor
Microphtalmia-associated transcription factor
Microphthalmia-associated transcription factor
MITF-A
SynonymsBHLHE32
DescriptionFUNCTION: Transcription factor that acts as a master regulator of melanocyte survival and differentiation as well as melanosome biogenesis . Binds to M-boxes (5'-TCATGTG-3') and symmetrical DNA sequences (E-boxes) (5'-CACGTG-3') found in the promoter of pigmentation genes, such as tyrosinase (TYR) . Involved in the cellular response to amino acid availability by acting downstream of MTOR: in the presence of nutrients, MITF phosphorylation by MTOR promotes its inactivation . Upon starvation or lysosomal stress, inhibition of MTOR induces MITF dephosphorylation, resulting in transcription factor activity . Plays an important role in melanocyte development by regulating the expression of tyrosinase (TYR) and tyrosinase-related protein 1 (TYRP1) . Plays a critical role in the differentiation of various cell types, such as neural crest-derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigment epithelium . .

AccessionsENST00000472437.5 [O75030-12]
A0A8F9W6H4
ENST00000314557.10 [O75030-10]
A0A8I5KTU3
ENST00000433517.5
C9K0S7
ENST00000352241.9 [O75030-1]
ENST00000314589.11 [O75030-8]
ENST00000478490.5
A0A8I5KSZ4
A0A8I5KRZ6
ENST00000394351.9 [O75030-9]
ENST00000693031.1
O75030
ENST00000642352.1 [O75030-2]
ENST00000429090.5
ENST00000394348.2
ENST00000693549.1
C9J845
ENST00000531774.1 [O75030-11]
A0A0H3W5T2
ENST00000687384.1
A0A087WXU1
C9JBI8
E9PKJ8
ENST00000451708.5
Q8TF70
A0A0A7NWS7
ENST00000448226.9 [O75030-6]