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Tbio
MITF
Microphthalmia-associated transcription factor

Protein Summary
Description
Transcription factor that regulates the expression of genes with essential roles in cell differentiation, proliferation and survival. Binds to M-boxes (5'-TCATGTG-3') and symmetrical DNA sequences (E-boxes) (5'-CACGTG-3') found in the promoters of target genes, such as BCL2 and tyrosinase (TYR). 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. 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 Waard ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000314557
  • ENSP00000324246
  • ENSG00000187098
  • ENST00000314589
  • ENSP00000324443
  • ENST00000328528
  • ENSP00000327867
  • ENST00000352241
  • ENSP00000295600
  • ENST00000394351
  • ENSP00000377880
  • ENST00000448226
  • ENSP00000391803
  • ENST00000472437
  • ENSP00000418845
  • ENST00000531774
  • ENSP00000435909
  • ENST00000642352
  • ENSP00000494105

Symbol
  • BHLHE32
  • MI
  • WS2
  • CMM8
  • WS2A
  • COMMAD
  • bHLHe32
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
molecular function
0.94
kinase perturbation
0.93
transcription factor
0.93
biological term
0.91
kinase
0.9


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1416.72   (req: < 5)
Gene RIFs: 229   (req: <= 3)
Antibodies: 828   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1416.72   (req: >= 5)
Gene RIFs: 229   (req: > 3)
Antibodies: 828   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 26
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Protein Data Bank (1)
1 – 1 of 1
PDB Structure Id
Ligand
Method
Resolution (Å)
M.W. (kDa)
Pub Year
Title
PDB Structure Id
M.W.
Resolution
Pub Year
Pathways (118)
Metabolism of proteins (R-HSA-392499)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 5
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Metabolism of proteins
Reactome
Post-translational protein modification
Reactome
SUMO E3 ligases SUMOylate target proteins
Reactome
SUMOylation
Reactome
SUMOylation of transcription factors
Name
Explore in Pharos
Explore in Source
Metabolism of proteins
Post-translational protein modification
SUMO E3 ligases SUMOylate target proteins
SUMOylation
SUMOylation of transcription factors
Gene Ontology Terms (29)
Items per page:
10
1 – 8 of 8
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
NTNU_SB
Inferred from Sequence Alignment (ISA)
NTNU_SB
Non-traceable Author Statement (NAS)
BHF-UCL
Inferred from Electronic Annotation (IEA)
Ensembl
Inferred from Electronic Annotation (IEA)
Ensembl
Inferred from Electronic Annotation (IEA)
Ensembl
Protein-Protein Interactions (167)
1 – 10 of 167
TFEB
Tbio
Family: TF
Novelty: 0.00333365
p_int: 1
Score: 0.966
Data Source: BioPlex,STRINGDB
TFE3
Tbio
Family: TF
Novelty: 0.00322628
p_int: 0.999999996
p_ni: 4e-9
Score: 0.977
Data Source: BioPlex,STRINGDB
RBM6
Tbio
Novelty: 0.02740624
p_int: 0.990481192
p_ni: 0.009518457
p_wrong: 3.51e-7
Score: 0.337
Data Source: BioPlex,STRINGDB
KLHL20
Tbio
Novelty: 0.17747435
p_int: 0.7839177
p_ni: 0.216082295
p_wrong: 5e-9
Score: 0.239
Data Source: BioPlex,STRINGDB
CREB1
Tbio
Family: TF
Novelty: 0.00022127
Score: 0.98
Data Source: STRINGDB
MAPK1
Tchem
Family: Kinase
Novelty: 0.00046573
Score: 0.979
Data Source: STRINGDB
PAX3
Tbio
Family: TF
Novelty: 0.00139998
Score: 0.966
Data Source: STRINGDB
MAPK14
Tchem
Family: Kinase
Novelty: 0.00018655
Score: 0.965
Data Source: STRINGDB
TYR
Tclin
Family: Enzyme
Novelty: 0.00007229
Score: 0.962
Data Source: STRINGDB
PIAS3
Tbio
Family: TF
Novelty: 0.01507171
Score: 0.962
Data Source: STRINGDB
Publication Statistics
PubMed Score  1416.72

PubMed score by year
PubTator Score  596.41

PubTator score by year
Amino Acid Sequence
Residue Counts
Sequence
MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSSSSAEHPGASKPPISSSSMTSRILLRQQLMREQMQE
1-70
QERREQQQKLQAAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQVK
70-140
QYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECP
140-210
GMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNS
210-280
CPANLPNIKRELTACIFPTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNK
280-350
GTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNR
350-420
IIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTL
420-490
SPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC
490-526
MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSSSSAEHPGASKPPISSSSMTSRILLRQQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTACIFPTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC