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PBX1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1B72, 1PUF
Identifiers
Aliases	PBX1, PBX homeobox 1, CAKUHED
External IDs	OMIM: 176310; MGI: 97495; HomoloGene: 20574; GeneCards: PBX1; OMA:PBX1 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	164,899,296 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	168,259,839 bp
RNA expression pattern
	Top expressed in
	tail of epididymis; ; body of uterus; ; pars reticulata; ; ganglionic eminence; ; buccal mucosa cell; ; optic nerve; ; myometrium; ; canal of the cervix; ; seminal vesicula; ; Brodmann area 23;
	Top expressed in
	Rostral migratory stream; ; habenula; ; vas deferens; ; genital tubercle; ; olfactory bulb; ; external carotid artery; ; median eminence; ; ventral tegmental area; ; internal carotid artery; ; ciliary body;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	sequence-specific DNA binding; RNA polymerase II cis-regulatory region sequence-specific DNA binding; protein heterodimerization activity; DNA-binding transcription factor activity; DNA binding; DNA-binding transcription activator activity, RNA polymerase II-specific; transcription factor binding; protein binding; RNA polymerase II transcription regulatory region sequence-specific DNA binding; DNA-binding transcription factor activity, RNA polymerase II-specific;
Cellular component	cytoplasm; nucleus; transcription regulator complex; nucleoplasm; RNA polymerase II transcription regulator complex;
Biological process	anterior/posterior pattern specification; proximal/distal pattern formation; positive regulation of G2/M transition of mitotic cell cycle; embryonic organ development; embryonic hemopoiesis; negative regulation of DNA-binding transcription factor activity; transcription, DNA-templated; sex differentiation; multicellular organism development; embryonic limb morphogenesis; somatic stem cell population maintenance; regulation of cell population proliferation; adrenal gland development; spleen development; thymus development; positive regulation of cell population proliferation; urogenital system development; regulation of transcription, DNA-templated; regulation of ossification; positive regulation of transcription by RNA polymerase II; transcription by RNA polymerase II; negative regulation of neuron differentiation; embryonic skeletal system development; branching involved in ureteric bud morphogenesis; steroid biosynthetic process; cell differentiation; animal organ morphogenesis; positive regulation of transcription of Notch receptor target;
	Sources:Amigo / QuickGO
Orthologs
	5087
	18514
	ENSG00000185630
	ENSMUSG00000052534
	P40424
	P41778
	NM_001204961; NM_001204963; NM_002585; NM_001353130; NM_001353131
	NM_001291508; NM_001291509; NM_008783; NM_183355
	NP_001191890; NP_001191892; NP_002576; NP_001340059; NP_001340060
	NP_001278437; NP_001278438; NP_032809; NP_899198
	Wikidata
View/Edit Human	View/Edit Mouse

Pre-B-cell leukemia transcription factor 1 is a protein that in humans is encoded by the PBX1 gene.^[5] The homologous protein in Drosophila is known as extradenticle, and causes changes in embryonic development.

Function

Mice studies suggest PBX1 is involved in bone generation and skeletal patterning.^[6]

Interactions

PBX1 has been shown to interact with:

Fruit fly homolog

The Drosophila melangoster gene called extradenticle encodes a homeodomain protein that is 71% similar to the Pbx1 protein, and is considered homologous to PBX1.^[14] extradenticle is a homeodomain transcription factor^[15] expressed during embryogenesis and is related to morphological changes and development.^[14]

Reduced levels of extradenticle cause segmental transformations, without affecting the functionality or location of homeotic genes. Complete removal of extradenticle both maternally and zygotically leads to alterations from failure of non-extradenticle protein expression.^[16]

A monoclonal antibody study of the expression of extradenticle protein in embryonic development found that it is uniformly distributed, as well as excluded from cell nuclei, until gastrulation. During the germ band retraction stage of development, extradenticle protein begins to accumulate in the nuclei of cells in a specific pattern. Proximal areas of wing and leg imaginal discs have extradenticle present in the nucleus, while distal areas only have it in the cytoplasm.^[17]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000185630 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000052534 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: PBX1 Pre-B-cell leukemia homeobox 1".
^ "PBX1 PBX homeobox 1 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-06-11.
^ Berthelsen J, Zappavigna V, Ferretti E, Mavilio F, Blasi F (March 1998). "The novel homeoprotein Prep1 modulates Pbx-Hox protein cooperativity". The EMBO Journal. 17 (5): 1434–1445. doi:10.1093/emboj/17.5.1434. PMC 1170491. PMID 9482740.
^ Piper DE, Batchelor AH, Chang CP, Cleary ML, Wolberger C (February 1999). "Structure of a HoxB1-Pbx1 heterodimer bound to DNA: role of the hexapeptide and a fourth homeodomain helix in complex formation". Cell. 96 (4): 587–597. doi:10.1016/S0092-8674(00)80662-5. PMID 10052460. S2CID 16122785.
^ Chang CP, Shen WF, Rozenfeld S, Lawrence HJ, Largman C, Cleary ML (March 1995). "Pbx proteins display hexapeptide-dependent cooperative DNA binding with a subset of Hox proteins". Genes & Development. 9 (6): 663–674. doi:10.1101/gad.9.6.663. PMID 7729685.
^ Shen WF, Rozenfeld S, Kwong A, Köm ves LG, Lawrence HJ, Largman C (April 1999). "HOXA9 forms triple complexes with PBX2 and MEIS1 in myeloid cells". Molecular and Cellular Biology. 19 (4): 3051–3061. doi:10.1128/MCB.19.4.3051. PMC 84099. PMID 10082572.
^ Shanmugam K, Green NC, Rambaldi I, Saragovi HU, Featherstone MS (November 1999). "PBX and MEIS as non-DNA-binding partners in trimeric complexes with HOX proteins". Molecular and Cellular Biology. 19 (11): 7577–7588. doi:10.1128/MCB.19.11.7577. PMC 84774. PMID 10523646.
^ Jacobs Y, Schnabel CA, Cleary ML (July 1999). "Trimeric association of Hox and TALE homeodomain proteins mediates Hoxb2 hindbrain enhancer activity". Molecular and Cellular Biology. 19 (7): 5134–5142. doi:10.1128/MCB.19.7.5134. PMC 84356. PMID 10373562.
^ Zubair M, Ishihara S, Oka S, Okumura K, Morohashi K (June 2006). "Two-step regulation of Ad4BP/SF-1 gene transcription during fetal adrenal development: initiation by a Hox-Pbx1-Prep1 complex and maintenance via autoregulation by Ad4BP/SF-1". Molecular and Cellular Biology. 26 (11): 4111–4121. doi:10.1128/MCB.00222-06. PMC 1489093. PMID 16705164.
^ ^a ^b Rauskolb C, Peifer M, Wieschaus E (September 1993). "extradenticle, a regulator of homeotic gene activity, is a homolog of the homeobox-containing human proto-oncogene pbx1". Cell. 74 (6): 1101–1112. doi:10.1016/0092-8674(93)90731-5. PMID 8104703. S2CID 44721382.
^ Aspland SE, White RA (February 1997). "Nucleocytoplasmic localisation of extradenticle protein is spatially regulated throughout development in Drosophila". Development. 124 (3): 741–747. doi:10.1242/dev.124.3.741. PMID 9043089.
^ Peifer M, Wieschaus E (July 1990). "Mutations in the Drosophila gene extradenticle affect the way specific homeo domain proteins regulate segmental identity". Genes & Development. 4 (7): 1209–1223. doi:10.1101/gad.4.7.1209. PMID 1976570.
^ "Nucleocytoplasmic localisation of extradenticle protein is spatially regulated throughout development in Drosophila". journals.biologists.com. Retrieved 2023-06-06.

External links

PBX1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
Overview of all the structural information available in the PDB for UniProt: P40424 (Human Pre-B-cell leukemia transcription factor 1) at the PDBe-KB.
Overview of all the structural information available in the PDB for UniProt: P41778 (Mouse Pre-B-cell leukemia transcription factor 1) at the PDBe-KB.