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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) Band 1q23.3 Start 164,555,584 bp End 164,899,296 bp
Gene location (Mouse) Chr. Chromosome 1 (mouse) Band 1 H2.3|1 75.95 cM Start 167,946,933 bp End 168,259,839 bp
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 5087 18514 Ensembl ENSG00000185630 ENSMUSG00000052534 UniProt P40424 P41778 RefSeq (mRNA) NM_001204961 NM_001204963 NM_002585 NM_001353130 NM_001353131 NM_001291508 NM_001291509 NM_008783 NM_183355 RefSeq (protein) NP_001191890 NP_001191892 NP_002576 NP_001340059 NP_001340060 NP_001278437 NP_001278438 NP_032809 NP_899198 Location (UCSC) Chr 1: 164.56 – 164.9 Mb Chr 1: 167.95 – 168.26 Mb PubMed search
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. 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.

Interactions

PBX1 has been shown to interact with:

• HOXB1,
• HOXB7,
• MEIS1, and
• Prep1.

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. extradenticle is a homeodomain transcription factor expressed during embryogenesis and is related to morphological changes and development.

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.

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.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000185630 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000052534 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: PBX1 Pre-B-cell leukemia homeobox 1".
6. "PBX1 PBX homeobox 1 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-06-11.
7. 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.
8. 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.
9. 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.
10. 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.
11. 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.
12. 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.
13. 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.
14. ^ 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.
15. 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.
16. 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.
17. Aspland SE, White RA (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. Retrieved 2023-06-06.

Further reading

• Sanyal M, Tung JW, Karsunky H, Zeng H, Selleri L, Weissman IL, et al. (May 2007). "B-cell development fails in the absence of the Pbx1 proto-oncogene". Blood. 109 (10): 4191–4199. doi:10.1182/blood-2006-10-054213. PMC 1885499. PMID 17244677.{{cite journal}}: CS1 maint: overridden setting (link)
• Hui H, Perfetti R (February 2002). "Pancreas duodenum homeobox-1 regulates pancreas development during embryogenesis and islet cell function in adulthood". European Journal of Endocrinology. 146 (2): 129–141. doi:10.1530/eje.0.1460129. PMID 11834421.
• Hunger SP, Galili N, Carroll AJ, Crist WM, Link MP, Cleary ML (February 1991). "The t(1;19)(q23;p13) results in consistent fusion of E2A and PBX1 coding sequences in acute lymphoblastic leukemias". Blood. 77 (4): 687–693. doi:10.1182/blood.V77.4.687.687. PMID 1671560.
• Monica K, Galili N, Nourse J, Saltman D, Cleary ML (December 1991). "PBX2 and PBX3, new homeobox genes with extensive homology to the human proto-oncogene PBX1". Molecular and Cellular Biology. 11 (12): 6149–6157. doi:10.1128/mcb.11.12.6149. PMC 361792. PMID 1682799.
• Nourse J, Mellentin JD, Galili N, Wilkinson J, Stanbridge E, Smith SD, et al. (February 1990). "Chromosomal translocation t(1;19) results in synthesis of a homeobox fusion mRNA that codes for a potential chimeric transcription factor". Cell. 60 (4): 535–545. doi:10.1016/0092-8674(90)90657-Z. PMID 1967982. S2CID 7975269.
• Kamps MP, Murre C, Sun XH, Baltimore D (February 1990). "A new homeobox gene contributes the DNA binding domain of the t(1;19) translocation protein in pre-B ALL". Cell. 60 (4): 547–555. doi:10.1016/0092-8674(90)90658-2. PMID 1967983. S2CID 39661371.
• Lu Q, Wright DD, Kamps MP (June 1994). "Fusion with E2A converts the Pbx1 homeodomain protein into a constitutive transcriptional activator in human leukemias carrying the t(1;19) translocation". Molecular and Cellular Biology. 14 (6): 3938–3948. doi:10.1128/mcb.14.6.3938. PMC 358760. PMID 7910944.
• Van Dijk MA, Voorhoeve PM, Murre C (July 1993). "Pbx1 is converted into a transcriptional activator upon acquiring the N-terminal region of E2A in pre-B-cell acute lymphoblastoid leukemia". Proceedings of the National Academy of Sciences of the United States of America. 90 (13): 6061–6065. Bibcode:1993PNAS...90.6061D. doi:10.1073/pnas.90.13.6061. PMC 46867. PMID 8327485.
• Lu Q, Kamps MP (April 1996). "Structural determinants within Pbx1 that mediate cooperative DNA binding with pentapeptide-containing Hox proteins: proposal for a model of a Pbx1-Hox-DNA complex". Molecular and Cellular Biology. 16 (4): 1632–1640. doi:10.1128/mcb.16.4.1632. PMC 231149. PMID 8657138.
• Berthelsen J, Zappavigna V, Mavilio F, Blasi F (March 1998). "Prep1, a novel functional partner of Pbx proteins". The EMBO Journal. 17 (5): 1423–1433. doi:10.1093/emboj/17.5.1423. PMC 1170490. PMID 9482739.
• 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.
• 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.
• 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.
• Knoepfler PS, Bergstrom DA, Uetsuki T, Dac-Korytko I, Sun YH, Wright WE, et al. (September 1999). "A conserved motif N-terminal to the DNA-binding domains of myogenic bHLH transcription factors mediates cooperative DNA binding with pbx-Meis1/Prep1". Nucleic Acids Research. 27 (18): 3752–3761. doi:10.1093/nar/27.18.3752. PMC 148632. PMID 10471746.{{cite journal}}: CS1 maint: overridden setting (link)
• McWhirter JR, Neuteboom ST, Wancewicz EV, Monia BP, Downing JR, Murre C (September 1999). "Oncogenic homeodomain transcription factor E2A-Pbx1 activates a novel WNT gene in pre-B acute lymphoblastoid leukemia". Proceedings of the National Academy of Sciences of the United States of America. 96 (20): 11464–11469. Bibcode:1999PNAS...9611464M. doi:10.1073/pnas.96.20.11464. PMC 18056. PMID 10500199.
• 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.
• Mikkola I, Bruun JA, Holm T, Johansen T (February 2001). "Superactivation of Pax6-mediated transactivation from paired domain-binding sites by dna-independent recruitment of different homeodomain proteins". The Journal of Biological Chemistry. 276 (6): 4109–4118. doi:10.1074/jbc.M008882200. PMID 11069920.
• Thameem F, Wolford JK, Bogardus C, Prochazka M (March 2001). "Analysis of PBX1 as a candidate gene for type 2 diabetes mellitus in Pima Indians". Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression. 1518 (1–2): 215–220. doi:10.1016/S0167-4781(01)00189-0. PMID 11267683.
• Liu Y, MacDonald RJ, Swift GH (May 2001). "DNA binding and transcriptional activation by a PDX1.PBX1b.MEIS2b trimer and cooperation with a pancreas-specific basic helix-loop-helix complex". The Journal of Biological Chemistry. 276 (21): 17985–17993. doi:10.1074/jbc.M100678200. PMID 11279116.
• Mal A, Sturniolo M, Schiltz RL, Ghosh MK, Harter ML (April 2001). "A role for histone deacetylase HDAC1 in modulating the transcriptional activity of MyoD: inhibition of the myogenic program". The EMBO Journal. 20 (7): 1739–1753. doi:10.1093/emboj/20.7.1739. PMC 145490. PMID 11285237.

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.

• Genes on human chromosome 1
• Transcription factors