• Gene id: 5090

Gene Summary

• Gene Symbol: PBX3   Gene   UCSC   Ensembl
• Gene name: PBX homeobox 3
• Alternate names: pre-B-cell leukemia transcription factor 3, homeobox protein PBX3, pre-B-cell leukemia homeobox 3,
• Gene location: 9q33.3 (130342241: 130347966)     Exons: 9     NC_000002.12
• OMIM: 176312

Protein Summary

• Protein general information: P40426  
  • Name: Pre B cell leukemia transcription factor 3 (Homeobox protein PBX3)
  • Length: 434  
  • Mass: 47190
  • Tissue specificity: Ubiquitously expressed.
• Sequence:

  MDDQSRMLQTLAGVNLAGHSVQGGMALPPPPHGHEGADGDGRKQDIGDILHQIMTITDQSLDEAQAKKHALNCHR
  MKPALFSVLCEIKEKTGLSIRGAQEEDPPDPQLMRLDNMLLAEGVSGPEKGGGSAAAAAAAAASGGSSDNSIEHS
  DYRAKLTQIRQIYHTELEKYEQACNEFTTHVMNLLREQSRTRPISPKEIERMVGIIHRKFSSIQMQLKQSTCEAV
  MILRSRFLDARRKRRNFSKQATEILNEYFYSHLSNPYPSEEAKEELAKKCSITVSQVSNWFGNKRIRYKKNIGKF
  QEEANLYAAKTAVTAAHAVAAAVQNNQTNSPTTPNSGSSGSFNLPNSGDMFMNMQSLNGDSYQGSQVGANVQSQV
  DTLRHVINQTGGYSDGLGGNSLYSPHNLNANGGWQDATTPSSVTSPTEGPGSVHSDTSN

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR005542  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000362588
• Other Databases: GeneCards:  PBX3  Malacards:  PBX3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0009887	animal organ morphogenesis	IBA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0001654	eye development	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0007420	brain development	IBA	biological process
GO:0008134	transcription factor binding	IBA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0048568	embryonic organ development	IBA	biological process
GO:0048666	neuron development	IBA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007387	anterior compartment pattern formation	TAS	biological process
GO:0007388	posterior compartment specification	TAS	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0021516	dorsal spinal cord development	IEA	biological process
GO:0008344	adult locomotory behavior	IEA	biological process
GO:0002087	regulation of respiratory gaseous exchange by nervous system process	IEA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0048666	neuron development	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0007585	respiratory gaseous exchange by respiratory system	IEA	biological process
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05202	Transcriptional misregulation in cancer

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)