Conclusion
Assessment
Binding Mode
Motif Status
Notes
Comments
Known motif
1 Monomer or homomultimer
High-throughput in vitro
Description
Description:
transcription factor 4 [Source:HGNC Symbol;Acc:HGNC:11634]
Entrez Summary
#!usr/local/bin/perl
?>
This gene encodes transcription factor 4, a basic helix-loop-helix
transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box
') binding site ('CANNTG') - a motif first identified in immunoglobulin
enhancers. This gene is broadly expressed, and may play an important role in
nervous system development. Defects in this gene are a cause of Pitt-Hopkins
syndrome. In addition, an intronic CTG repeat normally numbering 10-37 repeat
units can expand to >50 repeat units and cause Fuchs endothelial corneal
dystrophy. Multiple alternatively spliced transcript variants that encode
different proteins have been described. [provided by RefSeq, Jul 2016]
Ensembl ID:
ENSG00000196628
External Link:
CisBP
Interpro
IPR011598 ; ;
Protein Domain:
ENSP00000348374
Protein Domain:
ENSP00000381382
Protein Domain:
ENSP00000409447
Protein Domain:
ENSP00000439656
Protein Domain:
ENSP00000457765
Protein Domain:
ENSP00000455450
Protein Domain:
ENSP00000456802
Protein Domain:
ENSP00000455261
Protein Domain:
ENSP00000455418
Protein Domain:
ENSP00000454366
Protein Domain:
ENSP00000455763
Protein Domain:
ENSP00000440731
Protein Domain:
ENSP00000439827
Protein Domain:
ENSP00000445202
Protein Domain:
ENSP00000441562
Protein Domain:
ENSP00000455179
Protein Domain:
ENSP00000458122
Protein Domain:
ENSP00000468729
Protein Domain:
ENSP00000454647
Protein Domain:
ENSP00000487505
Protein Domain:
ENSP00000486974
Protein Domain:
ENSP00000454866
Protein Domain:
ENSP00000454584
Protein Domain:
ENSP00000456983
Protein Domain:
ENSP00000487419
Protein Domain:
ENSP00000490451
Protein Domain:
ENSP00000490006
Protein Domain:
ENSP00000490883
Protein Domain:
ENSP00000490832
Protein Domain:
ENSP00000490625
Domain:
Protein: ENSP00000348374DBD: bHLHOther: Protein: ENSP00000381382DBD: bHLHOther: Protein: ENSP00000409447DBD: bHLHOther: Protein: ENSP00000439656DBD: bHLHOther: Protein: ENSP00000457765DBD: bHLHOther: Protein: ENSP00000455450DBD: bHLHOther: Protein: ENSP00000456802DBD: bHLHOther: Protein: ENSP00000455261DBD: bHLHOther: Protein: ENSP00000455418DBD: bHLHOther: Protein: ENSP00000454366DBD: bHLHOther: Protein: ENSP00000455763DBD: bHLHOther: Protein: ENSP00000440731DBD: bHLHOther: Protein: ENSP00000439827DBD: bHLHOther: Protein: ENSP00000445202DBD: bHLHOther: Protein: ENSP00000441562DBD: bHLHOther: Protein: ENSP00000455179DBD: bHLHOther: Protein: ENSP00000458122DBD: bHLHOther: Protein: ENSP00000468729DBD: bHLHOther: Protein: ENSP00000454647DBD: bHLHOther: Protein: ENSP00000487505DBD: bHLHOther: Protein: ENSP00000486974DBD: bHLHOther: Protein: ENSP00000454866DBD: bHLHOther: Protein: ENSP00000454584DBD: bHLHOther: Protein: ENSP00000456983DBD: bHLHOther: Protein: ENSP00000487419DBD: bHLHOther: Protein: ENSP00000490451DBD: bHLHOther: Protein: ENSP00000490006DBD: bHLHOther: Protein: ENSP00000490883DBD: bHLHOther: Protein: ENSP00000490832DBD: bHLHOther: Protein: ENSP00000490625DBD: bHLHOther:
Previous Annotations
Source
Annotation
TF-CAT classification
TF Gene_DNA-Binding sequence-specific_DNA Binding TF PPI Transactivation_ PMIDS:8978694
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:0001011 sequence-specific DNA binding RNA polymerase recruiting transcription factor activity ISS - PMID:8978694 GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor a ISS - PMID:8978694 GO:0003700 sequence-specific DNA binding transcription factor activity IDA - PMID:11802795, PMID:2105528
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
Structure
Experimental History
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