PKNOX1

Protein-coding gene in the species Homo sapiens
PKNOX1
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

1X2N

Identifiers
AliasesPKNOX1, PREP1, pkonx1c, PBX/knotted 1 homeobox 1
External IDsOMIM: 602100 MGI: 1201409 HomoloGene: 3363 GeneCards: PKNOX1
Gene location (Human)
Chromosome 21 (human)
Chr.Chromosome 21 (human)[1]
Chromosome 21 (human)
Genomic location for PKNOX1
Genomic location for PKNOX1
Band21q22.3Start42,974,510 bp[1]
End43,033,931 bp[1]
Gene location (Mouse)
Chromosome 17 (mouse)
Chr.Chromosome 17 (mouse)[2]
Chromosome 17 (mouse)
Genomic location for PKNOX1
Genomic location for PKNOX1
Band17 B1|17 16.78 cMStart31,783,708 bp[2]
End31,826,667 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right lobe of thyroid gland

  • left lobe of thyroid gland

  • ganglionic eminence

  • sural nerve

  • stromal cell of endometrium

  • blood

  • middle temporal gyrus

  • Achilles tendon

  • cerebellum

  • cerebellar cortex
Top expressed in
  • vas deferens

  • thymus

  • internal carotid artery

  • spermatocyte

  • blood

  • external carotid artery

  • dermis

  • seminal vesicula

  • spermatid

  • ganglionic eminence
More reference expression data
BioGPS




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
SpeciesHumanMouse
Entrez

5316

18771

Ensembl

ENSG00000160199

ENSMUSG00000006705

UniProt

P55347
Q96I87

O70477

RefSeq (mRNA)

NM_001286258
NM_004571
NM_001320694
NM_197976

NM_016670

RefSeq (protein)
NP_001273187
NP_001307623
NP_004562
NP_001273187.1
NP_004562.2

NP_001307623.1

NP_057879

Location (UCSC)Chr 21: 42.97 – 43.03 MbChr 17: 31.78 – 31.83 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000160199 – Ensembl, May 2017
  2. ^ a b c 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.
  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.
  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.

Further reading

  • 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

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

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  • 1x2n: Solution structure of the homeobox domain of human homeobox protein PKNOX1
    1x2n: Solution structure of the homeobox domain of human homeobox protein PKNOX1
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(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3) bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3) Helix-turn-helix domains
(3.1) Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3) Fork head / winged helix
(3.4) Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4) β-Scaffold factors with minor groove contacts
(4.1) Rel homology region
(4.2) STAT
(4.3) p53-like
(4.4) MADS box
(4.6) TATA-binding proteins
(4.7) High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3) Pocket domain
(0.5) AP-2/EREBP-related factors
(0.6) Miscellaneous
see also transcription factor/coregulator deficiencies
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