Assessment | Binding Mode | Motif Status | Notes | Comments |
---|---|---|---|---|
Known motif | 1 Monomer or homomultimer | In vivo/Misc source | Only known motifs are from Transfac or HocoMoco - origin is uncertain | Can form both homodimers and heterodimers with TCF3 (PMID: 16502419). |
Description: | twist family bHLH transcription factor 1 [Source:HGNC Symbol;Acc:HGNC:12428] | |||
Entrez Summary | #!usr/local/bin/perl ?> This gene encodes a basic helix-loop-helix (bHLH) transcription factor that plays an important role in embryonic development. The encoded protein forms both homodimers and heterodimers that bind to DNA E box sequences and regulate the transcription of genes involved in cranial suture closure during skull development. This protein may also regulate neural tube closure, limb development and brown fat metabolism. This gene is hypermethylated and overexpressed in multiple human cancers, and the encoded protein promotes tumor cell invasion and metastasis, as well as metastatic recurrence. Mutations in this gene cause Saethre-Chotzen syndrome in human patients, which is characterized by craniosynostosis, ptosis and hypertelorism. [provided by RefSeq, Jul 2020] | |||
Ensembl ID: | ENSG00000122691 | |||
External Link: | CisBP | |||
Interpro | IPR011598; ; | |||
Protein Domain: | ENSP00000242261 | |||
Domain: |
|
Source | Annotation |
TF-CAT classification |
TF Gene_DNA-Binding sequence-specific_DNA Binding_ PMIDS:12210745 |
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:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity IDA - PMID:17332325 GO:0043433 negative regulation of sequence-specific DNA binding transcription factor activity IEA - GO_REF:0000019 |
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 |
2a1, Lower confidence direct evidence |
TF has conditional DNA-binding requirements | Obligate_Multimer |