• Gene id: 5087

Gene Summary

• Gene Symbol: PBX1   Gene   UCSC   Ensembl
• Aliases: CAKUHED
• Gene name: PBX homeobox 1
• Alternate names: pre-B-cell leukemia transcription factor 1, homeobox protein PBX1, homeobox protein PRL, pre-B-cell leukemia homeobox 1,
• Gene location: 1q23.3 (164559183: 164886046)     Exons: 10     NC_000001.11
• Gene summary(Entrez): This gene encodes a nuclear protein that belongs to the PBX homeobox family of transcriptional factors. Studies in mice suggest that this gene may be involved in the regulation of osteogenesis and required for skeletal patterning and programming. A chromo
• OMIM: 176310

Protein Summary

• Protein general information: P40424  
  • Name: Pre B cell leukemia transcription factor 1 (Homeobox protein PBX1) (Homeobox protein PRL)
  • Length: 430  
  • Mass: 46626
  • Tissue specificity: Expressed in the kidney. Expressed in the endothelial cells of the glomeruli and interstitium (at protein level) (PubMed
• Sequence:

  MDEQPRLMHSHAGVGMAGHPGLSQHLQDGAGGTEGEGGRKQDIGDILQQIMTITDQSLDEAQARKHALNCHRMKP
  ALFNVLCEIKEKTVLSIRGAQEEEPTDPQLMRLDNMLLAEGVAGPEKGGGSAAAAAAAAASGGAGSDNSVEHSDY
  RAKLSQIRQIYHTELEKYEQACNEFTTHVMNLLREQSRTRPISPKEIERMVSIIHRKFSSIQMQLKQSTCEAVMI
  LRSRFLDARRKRRNFNKQATEILNEYFYSHLSNPYPSEEAKEELAKKCGITVSQVSNWFGNKRIRYKKNIGKFQE
  EANIYAAKTAVTATNVSAHGSQANSPSTPNSAGSSSSFNMSNSGDLFMSVQSLNGDSYQGAQVGANVQSQVDTLR
  HVISQTGGYSDGLAASQMYSPQGISANGGWQDATTPSSVTSPTEGPGSVHSDTSN

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR005542  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • PDB: 1B72 1PUF
  • PDBsum: 1B72 1PUF
  • STRING: ENSP00000405890
• Other Databases: GeneCards:  PBX1  Malacards:  PBX1

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:0090575	RNA polymerase II transcription regulator complex	IDA	cellular component
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	contributes to
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0009887	animal organ morphogenesis	IBA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0048666	neuron development	IBA	biological process
GO:0048568	embryonic organ development	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0008134	transcription factor binding	IBA	molecular function
GO:0007420	brain development	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0001654	eye development	IBA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IDA	cellular component
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:0030154	cell differentiation	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0007548	sex differentiation	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003700	DNA-binding transcription factor activity	NAS	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0035019	somatic stem cell population maintenance	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0007221	positive regulation of transcription of Notch receptor target	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0001655	urogenital system development	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0009887	animal organ morphogenesis	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0010971	positive regulation of G2/M transition of mitotic cell cycle	IEA	biological process
GO:0030278	regulation of ossification	IEA	biological process
GO:0030325	adrenal gland development	IEA	biological process
GO:0030326	embryonic limb morphogenesis	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0048538	thymus development	IEA	biological process
GO:0048706	embryonic skeletal system development	IEA	biological process
GO:0001658	branching involved in ureteric bud morphogenesis	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0009954	proximal/distal pattern formation	IEA	biological process
GO:0035162	embryonic hemopoiesis	IEA	biological process
GO:0045665	negative regulation of neuron differentiation	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0048536	spleen development	IEA	biological process
GO:0048568	embryonic organ development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003677	DNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05202	Transcriptional misregulation in cancer
hsa04934	Cushing syndrome
hsa04927	Cortisol synthesis and secretion

Diseases

Associated diseases	References
B-cell acute lymphoblastic leukemia	KEGG:H00001
B-cell acute lymphoblastic leukemia	KEGG:H00001
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)