Conclusion
Assessment
Binding Mode
Motif Status
Notes
Comments
Known motif
1 Monomer or homomultimer
High-throughput in vitro
Description
Description:
paired box 5 [Source:HGNC Symbol;Acc:HGNC:8619]
Entrez Summary
#!usr/local/bin/perl
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This gene encodes a member of the paired box (PAX) family of
transcription factors. The central feature of this gene family is a novel,
highly conserved DNA-binding motif, known as the paired box. Paired box
transcription factors are important regulators in early development, and
alterations in the expression of their genes are thought to contribute to
neoplastic transformation. This gene encodes the B-cell lineage specific
activator protein that is expressed at early, but not late stages of B-cell
differentiation. Its expression has also been detected in developing CNS and
testis and so the encoded protein may also play a role in neural development
and spermatogenesis. This gene is located at 9p13, which is involved in
t(9;14)(p13;q32) translocations recurring in small lymphocytic lymphomas of
the plasmacytoid subtype, and in derived large-cell lymphomas. This
translocation brings the potent E-mu enhancer of the IgH gene into close
proximity of the PAX5 promoter, suggesting that the deregulation of
transcription of this gene contributes to the pathogenesis of these
lymphomas. Alternative splicing results in multiple transcript variants
encoding different isoforms. [provided by RefSeq, Jul 2013]
Ensembl ID:
ENSG00000196092
External Link:
CisBP
Interpro
IPR001523 ; IPR009057 ; IPR022130 ; ;
Protein Domain:
ENSP00000350844
Protein Domain:
ENSP00000367078
Protein Domain:
ENSP00000367083
Protein Domain:
ENSP00000367084
Protein Domain:
ENSP00000412188
Protein Domain:
ENSP00000404687
Protein Domain:
ENSP00000429291
Protein Domain:
ENSP00000430773
Protein Domain:
ENSP00000429359
Protein Domain:
ENSP00000428670
Protein Domain:
ENSP00000429197
Protein Domain:
ENSP00000429637
Protein Domain:
ENSP00000429404
Domain:
Protein: ENSP00000350844DBD: Paired BoxOther: Pax2_CProtein: ENSP00000367078DBD: Paired BoxOther: Pax2_CProtein: ENSP00000367083DBD: Paired BoxOther: Pax2_CProtein: ENSP00000367084DBD: Paired BoxOther: Pax2_CProtein: ENSP00000412188DBD: Paired BoxOther: Pax2_CProtein: ENSP00000404687DBD: Paired BoxOther: Pax2_CProtein: ENSP00000429291DBD: Paired BoxOther: Protein: ENSP00000430773DBD: Paired BoxOther: Pax2_CProtein: ENSP00000429359DBD: Paired BoxOther: Pax2_CProtein: ENSP00000428670DBD: Paired BoxOther: Pax2_CProtein: ENSP00000429197DBD: Paired BoxOther: Pax2_CProtein: ENSP00000429637DBD: Paired BoxOther: Protein: ENSP00000429404DBD: Paired BoxOther: Pax2_C
Previous Annotations
Source
Annotation
TF-CAT classification
TF Gene_DNA-Binding sequence-specific_DNA Binding_ PMIDS:8406007
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"
No
GO-Info
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor a 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
1a1, Direct HQ evidence
TF has conditional DNA-binding requirements
DNA-Binding
Published Motif Data
Structure
Experimental History
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{"regions": [{"startStyle": "curved", "end": 140, "endStyle": "curved", "aliStart": 16, "text": "PAX", "colour": "#2cb42c", "aliEnd": 140, "start": 16, "href": "http://pfam.xfam.org/family/PF00292.16", "type": "pfama", "display": "true", "metadata": {"end": 140, "description": "Paired domain proteins can function as transcription repressors or activators. The paired domain contains three subdomains, which show functional differences in DNA-binding. The crystal structures of prd and Pax proteins show that the DNA-bound paired domain is bipartite, consisting of an N-terminal subdomain (PAI or NTD) and a C-terminal subdomain (RED or CTD), connected by a linker. PAI and RED each form a three-helical fold, with the most C-terminal helices comprising a helix-turn-helix (HTH) motif that binds the DNA major groove. In addition, the PAI subdomain encompasses an N-terminal beta-turn and beta-hairpin, also named 'wing', participating in DNA-binding. The linker can bind into the DNA minor groove. Different Pax proteins and their alternatively spliced isoforms use different (sub)domains for DNA-binding to mediate the specificity of sequence recognition [PUBMED:11103953, PUBMED:15148315].", "database": "PfamA", "aliStart": 16, "scoreName": "E-value", "accession": "PF00292.16", "start": 16, "score": 1.1999999999999998e-74, "identifier": "'Paired box' domain", "type": "DBD", "aliEnd": 140}}, {"startStyle": "jagged", "end": 327, "endStyle": "straight", "aliStart": 302, "text": "Pax2_C", "colour": "#9999ff", "aliEnd": 327, "start": 297, "href": "http://pfam.xfam.org/family/PF12403.6", "type": "pfama", "display": "true", "metadata": {"end": 327, "description": "This domain family is found in eukaryotes, and is approximately 110 amino acids in length. The family is found in association with Pfam:PF00292. This family is the C terminal of the paired-box protein 2 which is a transcription factor involved in embryonic development and organogenesis.", "database": "PfamA", "aliStart": 302, "scoreName": "E-value", "accession": "PF12403.6", "start": 297, "score": 9.499999999999999e-05, "identifier": "Paired-box protein 2 C terminal", "type": "DBD", "aliEnd": 327}}], "length": 329}
{"regions": [{"startStyle": "curved", "end": 140, "endStyle": "curved", "aliStart": 16, "text": "PAX", "colour": "#2cb42c", "aliEnd": 140, "start": 16, "href": "http://pfam.xfam.org/family/PF00292.16", "type": "pfama", "display": "true", "metadata": {"end": 140, "description": "Paired domain proteins can function as transcription repressors or activators. The paired domain contains three subdomains, which show functional differences in DNA-binding. The crystal structures of prd and Pax proteins show that the DNA-bound paired domain is bipartite, consisting of an N-terminal subdomain (PAI or NTD) and a C-terminal subdomain (RED or CTD), connected by a linker. PAI and RED each form a three-helical fold, with the most C-terminal helices comprising a helix-turn-helix (HTH) motif that binds the DNA major groove. In addition, the PAI subdomain encompasses an N-terminal beta-turn and beta-hairpin, also named 'wing', participating in DNA-binding. The linker can bind into the DNA minor groove. Different Pax proteins and their alternatively spliced isoforms use different (sub)domains for DNA-binding to mediate the specificity of sequence recognition [PUBMED:11103953, PUBMED:15148315].", "database": "PfamA", "aliStart": 16, "scoreName": "E-value", "accession": "PF00292.16", "start": 16, "score": 1.3999999999999995e-74, "identifier": "'Paired box' domain", "type": "DBD", "aliEnd": 140}}, {"startStyle": "jagged", "end": 356, "endStyle": "straight", "aliStart": 292, "text": "Pax2_C", "colour": "#9999ff", "aliEnd": 356, "start": 278, "href": "http://pfam.xfam.org/family/PF12403.6", "type": "pfama", "display": "true", "metadata": {"end": 356, "description": "This domain family is found in eukaryotes, and is approximately 110 amino acids in length. The family is found in association with Pfam:PF00292. This family is the C terminal of the paired-box protein 2 which is a transcription factor involved in embryonic development and organogenesis.", "database": "PfamA", "aliStart": 292, "scoreName": "E-value", "accession": "PF12403.6", "start": 278, "score": 3.2000000000000003e-23, "identifier": "Paired-box protein 2 C terminal", "type": "DBD", "aliEnd": 356}}], "length": 358}
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