TF Info Page for MITF (bHLH)

Conclusion

Assessment Binding Mode Motif Status Notes Comments
Known motif 1 Monomer or homomultimer 100 perc ID - in vitro Binds DNA both as homo- and heterodimers (PMID: 23207919). The structure 4ATI is a homodimer with DNA GTTAGCACATGACCCT.

Description

Description: melanogenesis associated transcription factor [Source:HGNC Symbol;Acc:HGNC:7105]
Entrez Summary 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]
Ensembl ID: ENSG00000187098
External Link: CisBP
Interpro IPR011598; IPR021802;
Protein Domain: ENSP00000324246
Protein Domain: ENSP00000295600
Protein Domain: ENSP00000481286
Protein Domain: ENSP00000377880
Protein Domain: ENSP00000391276
Protein Domain: ENSP00000435909
Protein Domain: ENSP00000324443
Protein Domain: ENSP00000418845
Protein Domain: ENSP00000411389
Domain:
Protein: ENSP00000324246DBD: bHLHOther: DUF3371, MITF_TFEB_C_3_N
Protein: ENSP00000295600DBD: bHLHOther: DUF3371, MITF_TFEB_C_3_N
Protein: ENSP00000481286DBD: bHLHOther: MITF_TFEB_C_3_N
Protein: ENSP00000377880DBD: bHLHOther: DUF3371, MITF_TFEB_C_3_N
Protein: ENSP00000391276DBD: bHLHOther: MITF_TFEB_C_3_N
Protein: ENSP00000435909DBD: bHLHOther: DUF3371, MITF_TFEB_C_3_N
Protein: ENSP00000324443DBD: bHLHOther: DUF3371, MITF_TFEB_C_3_N
Protein: ENSP00000418845DBD: bHLHOther: DUF3371, MITF_TFEB_C_3_N
Protein: ENSP00000411389DBD: bHLHOther: MITF_TFEB_C_3_N

Previous Annotations

Source Annotation
TF-CAT classification TF Gene_DNA-Binding
sequence-specific_DNA Binding
Transactivation_
PMIDS:14737107 15716956
Vaquerizas 2009 TF classification
"a" Has direct evidence of TF function;
"b" Has evidence for an orthologous TF;
"c" contains likely DBDs, but has no functional evidence;
"x" is an unlikely TF such as predicted gene, genes with likely non-specific DBDs or that have function outside transcription;
"other" category contains proteins without clear DBDs they curated from external sources.
a
CisBP considers it as a TF? Yes
TFclass considers it as a TF? Yes
Has GO:0003700 "transcription factor activity, sequence-specific DNA binding" Yes
GO-Info GO:0001077
RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor a
IDA - PMID:14737107, PMID:20530484 | IMP - PMID:14
GO:0001227
RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor
NAS - PMID:24769727
Initial Assessment
1a1 Protein has a high confidence PWM (HT-SELEX, PBM or B1H model) or there is a crystal structure that supports sequence specific DNA binding;
1a2 There is high confidence data for a close ortholog (as defined in CisBP);
2a1 There is lower confidence direct evidence, such as a Jaspar, Hocomoco or Transfac model;
2a2 There is lower confidence evidence for an close ortholog;
3a There is decent circumstantial evidence for its role as a TF or not;
4a Two or more datasets predict it as a TF;
5a One of the source datasets predicts is as a TF
1a1, Direct HQ evidence
TF has conditional DNA-binding requirements

DNA-Binding

Published Motif Data

Source Annotation Motif Evidence
TransfacTransfacLicense requiredDirect
TransfacTransfacLicense requiredDirect
MiscHocoMocoDirect
PBMZoo_01Inferred - Mitf (100% AA Identity, Mus musculus)
MiscHOMERInferred - Mitf (100% AA Identity, Mus musculus)
SMiLE-seqIsakova2017Inferred - TFE3 (98% AA Identity, Mus musculus)
PBMZoo_01Inferred - TFE3 (98% AA Identity, Mus musculus)
TransfacTransfacLicense requiredInferred - TFE3 (98% AA Identity, Mus musculus)
HT-SELEXYin2017Inferred - TFE3 (96% AA Identity, Homo sapiens)
Methyl-HT-SELEXYin2017Inferred - TFE3 (96% AA Identity, Homo sapiens)
TransfacTransfacLicense requiredInferred - TFE3 (96% AA Identity, Homo sapiens)
MiscHocoMocoInferred - TFE3 (96% AA Identity, Homo sapiens)
HT-SELEXJolma2010Inferred - TFEB (88% AA Identity, Homo sapiens)
HT-SELEXYin2017Inferred - TFEB (88% AA Identity, Homo sapiens)
Methyl-HT-SELEXYin2017Inferred - TFEB (88% AA Identity, Homo sapiens)
PBMZoo_01Inferred - Tfeb (88% AA Identity, Mus musculus)
MiscHocoMocoInferred - TFEB (88% AA Identity, Homo sapiens)
PBMDREAM_contestInferred - Tfec (85% AA Identity, Mus musculus)
PBMZoo_01Inferred - Tfec (85% AA Identity, Mus musculus)
HT-SELEXYin2017Inferred - TFEC (83% AA Identity, Homo sapiens)
Methyl-HT-SELEXYin2017Inferred - TFEC (83% AA Identity, Homo sapiens)
PBMGrove09Inferred - hlh-30 (74% AA Identity, Caenorhabditis elegans)

Structure

Structure PDB 4ATI

Experimental History

Method Constructs
Tried in PBM?
(Whether the protein was tried in PBM or not)
Tried in HT-SELEX
(Whether the protein was tried in HT-SELEX or not, and if so, then what kind of clones were tested)
Other Information?
(Tried with another method and failed?)

External Contribution