PKNOX1

PKNOX1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1X2N
Identifiers
Aliases	PKNOX1, PREP1, pkonx1c, PBX/knotted 1 homeobox 1
External IDs	OMIM: 602100; MGI: 1201409; HomoloGene: 3363; GeneCards: PKNOX1; OMA:PKNOX1 - orthologs
Gene location (Human)
Chr.	Chromosome 21 (human)
End	43,033,931 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	31,826,667 bp
RNA expression pattern
	Top expressed in
	gonad; ; right lobe of thyroid gland; ; testicle; ; left testis; ; right testis; ; left lobe of thyroid gland; ; ganglionic eminence; ; ventricular zone; ; sural nerve; ; stromal cell of endometrium;
	Top expressed in
	Rostral migratory stream; ; granulocyte; ; vas deferens; ; thymus; ; internal carotid artery; ; efferent ductule; ; spermatocyte; ; human fetus; ; blood; ; external carotid artery;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	DNA-binding transcription factor activity; DNA-binding transcription activator activity, RNA polymerase II-specific; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding; sequence-specific DNA binding; DNA binding; protein heterodimerization activity; DNA-binding transcription factor activity, RNA polymerase II-specific; protein binding;
Cellular component	cytoplasm; nucleus; transcription regulator complex; cytosol;
Biological process	erythrocyte differentiation; regulation of transcription by RNA polymerase II; camera-type eye development; T cell differentiation; regulation of transcription, DNA-templated; angiogenesis; positive regulation of transcription by RNA polymerase II; transcription by RNA polymerase II; hemopoiesis;
	Sources:Amigo / QuickGO
Orthologs
	5316
	18771
	ENSG00000160199
	ENSMUSG00000006705
	P55347; Q96I87
	O70477
	NM_001286258; NM_004571; NM_001320694; NM_197976
	NM_016670
NP_001273187; NP_001307623; NP_004562; NP_001273187.1; NP_004562.2;
	NP_001307623.1
	NP_057879
	Wikidata
View/Edit Human	View/Edit Mouse

PBX/Knotted 1 Homeobox 1 (PKNOX1) is a protein that in humans is encoded by the PKNOX1 gene.^[5]^[6]

An important paralog of this gene is PKNOX2.

Function

PKNOX1 belongs to the three amino acid loop extension (TALE) class of homeodomain transcription factors that form transcriptionally active complexes involved in development and organogenesis. PKNOX1 is essential for embryogenesis, but it can also act as a tumor suppressor in adulthood.^[7]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000160199 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000006705 – 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.
^ Berthelsen J, Viggiano L, Schulz H, Ferretti E, Consalez GG, Rocchi M, Blasi F (January 1998). "PKNOX1, a gene encoding PREP1, a new regulator of Pbx activity, maps on human chromosome 21q22.3 and murine chromosome 17B/C". Genomics. 47 (2): 323–4. doi:10.1006/geno.1997.5086. PMID 9479508.
^ "Entrez Gene: PKNOX1 PBX/knotted 1 homeobox 1". Archived from the original on 2010-12-05. Retrieved 2017-09-07.
^ Purushothaman D, Blasi F (2018). "The genetics and the molecular functions of the PREP1 homeodomain transcription factor". The International Journal of Developmental Biology. 62 (11–12): 819–825. doi:10.1387/ijdb.180238fb. PMID 30604851.

Allen TD, Zhu YX, Hawley TS, Hawley RG (October 2000). "TALE homeoproteins as HOX11-interacting partners in T-cell leukemia". Leukemia & Lymphoma. 39 (3–4): 241–56. doi:10.3109/10428190009065824. PMID 11342305. S2CID 27407074.
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): 663–74. doi:10.1101/gad.9.6.663. PMID 7729685.
Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Hillier LD, Lennon G, Becker M, Bonaldo MF, Chiapelli B, Chissoe S, et al. (September 1996). "Generation and analysis of 280,000 human expressed sequence tags". Genome Research. 6 (9): 807–28. doi:10.1101/gr.6.9.807. PMID 8889549.
Phelan ML, Featherstone MS (March 1997). "Distinct HOX N-terminal arm residues are responsible for specificity of DNA recognition by HOX monomers and HOX.PBX heterodimers". The Journal of Biological Chemistry. 272 (13): 8635–43. doi:10.1074/jbc.272.13.8635. PMID 9079695.
Chen H, Rossier C, Nakamura Y, Lynn A, Chakravarti A, Antonarakis SE (April 1997). "Cloning of a novel homeobox-containing gene, PKNOX1, and mapping to human chromosome 21q22.3". Genomics. 41 (2): 193–200. doi:10.1006/geno.1997.4632. PMID 9143494.
LeBrun DP, Matthews BP, Feldman BJ, Cleary ML (October 1997). "The chimeric oncoproteins E2A-PBX1 and E2A-HLF are concentrated within spherical nuclear domains". Oncogene. 15 (17): 2059–67. doi:10.1038/sj.onc.1201367. PMID 9366523.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Berthelsen J, Zappavigna V, Mavilio F, Blasi F (March 1998). "Prep1, a novel functional partner of Pbx proteins". The EMBO Journal. 17 (5): 1423–33. 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): 1434–45. doi:10.1093/emboj/17.5.1434. PMC 1170491. PMID 9482740.
Green NC, Rambaldi I, Teakles J, Featherstone MS (May 1998). "A conserved C-terminal domain in PBX increases DNA binding by the PBX homeodomain and is not a primary site of contact for the YPWM motif of HOXA1". The Journal of Biological Chemistry. 273 (21): 13273–9. doi:10.1074/jbc.273.21.13273. PMID 9582372.
Berthelsen J, Kilstrup-Nielsen C, Blasi F, Mavilio F, Zappavigna V (April 1999). "The subcellular localization of PBX1 and EXD proteins depends on nuclear import and export signals and is modulated by association with PREP1 and HTH". Genes & Development. 13 (8): 946–53. doi:10.1101/gad.13.8.946. PMC 316640. PMID 10215622.
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): 5134–42. 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): 3752–61. doi:10.1093/nar/27.18.3752. PMC 148632. PMID 10471746.
Kömüves LG, Shen WF, Kwong A, Stelnicki E, Rozenfeld S, Oda Y, et al. (August 2000). "Changes in HOXB6 homeodomain protein structure and localization during human epidermal development and differentiation". Developmental Dynamics. 218 (4): 636–47. doi:10.1002/1097-0177(2000)9999:9999<::AID-DVDY1014>3.0.CO;2-I. PMID 10906782.
Okada Y, Matsuura E, Nagai R, Sato T, Watanabe A, Morita I, Doi T (May 2003). "PREP1, MEIS1 homolog protein, regulates PF4 gene expression". Biochemical and Biophysical Research Communications. 305 (1): 155–9. doi:10.1016/S0006-291X(03)00718-6. PMID 12732210.

External links

PKNOX1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000160199 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000006705 – 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.

[pmid9479508-5] Berthelsen J, Viggiano L, Schulz H, Ferretti E, Consalez GG, Rocchi M, Blasi F (January 1998). "PKNOX1, a gene encoding PREP1, a new regulator of Pbx activity, maps on human chromosome 21q22.3 and murine chromosome 17B/C". Genomics. 47 (2): 323–4. doi:10.1006/geno.1997.5086. PMID 9479508.

[entrez-6] "Entrez Gene: PKNOX1 PBX/knotted 1 homeobox 1". Archived from the original on 2010-12-05. Retrieved 2017-09-07.

[7] Purushothaman D, Blasi F (2018). "The genetics and the molecular functions of the PREP1 homeodomain transcription factor". The International Journal of Developmental Biology. 62 (11–12): 819–825. doi:10.1387/ijdb.180238fb. PMID 30604851.

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Function

References

Further reading

External links