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HOXB1: Wikis


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Homeobox B1

Cartoon diagram of a HOXB1–PBX1 heterodimer (violet) binding a DNA fragment (blue). Rendering based on PDB 1b72.
Available structures
Symbols HOXB1; HOX2; HOX2I; Hox-2.9; MGC116843; MGC116844; MGC116845
External IDs OMIM142968 MGI96182 HomoloGene1615 GeneCards: HOXB1 Gene
RNA expression pattern
PBB GE HOXB1 208224 at tn.png
More reference expression data
Species Human Mouse
Entrez 3211 15407
Ensembl ENSG00000120094 ENSMUSG00000018973
UniProt P14653 P17919
RefSeq (mRNA) NM_002144 NM_008266
RefSeq (protein) NP_002135 NP_032292
Location (UCSC) Chr 17:
43.96 - 43.96 Mb
Chr 11:
96.18 - 96.18 Mb
PubMed search [1] [2]

Homeobox protein Hox-B1 is a protein that in humans is encoded by the HOXB1 gene.[1][2][3]

This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXB genes located in a cluster on chromosome 17.[3]


See also


HOXB1 has been shown to interact with PBX1.[4][5]


  1. ^ McAlpine PJ, Shows TB (Aug 1990). "Nomenclature for human homeobox genes". Genomics 7 (3): 460. PMID 1973146.  
  2. ^ Scott MP (Dec 1992). "Vertebrate homeobox gene nomenclature". Cell 71 (4): 551–3. PMID 1358459.  
  3. ^ a b "Entrez Gene: HOXB1 homeobox B1".  
  4. ^ Berthelsen, J; Zappavigna V, Ferretti E, Mavilio F, Blasi F (Mar. 1998). "The novel homeoprotein Prep1 modulates Pbx-Hox protein cooperativity". EMBO J. (ENGLAND) 17 (5): 1434–45. doi:10.1093/emboj/17.5.1434. ISSN 0261-4189. PMID 9482740.  
  5. ^ Piper, D E; Batchelor A H, Chang C P, Cleary M L, Wolberger C (Feb. 1999). "Structure of a HoxB1-Pbx1 heterodimer bound to DNA: role of the hexapeptide and a fourth homeodomain helix in complex formation". Cell (UNITED STATES) 96 (4): 587–97. ISSN 0092-8674. PMID 10052460.  

Further reading

  • Acampora D, D'Esposito M, Faiella A, et al. (1990). "The human HOX gene family.". Nucleic Acids Res. 17 (24): 10385–402. PMID 2574852.  
  • Boncinelli E, Acampora D, Pannese M, et al. (1990). "Organization of human class I homeobox genes.". Genome 31 (2): 745–56. PMID 2576652.  
  • Guazzi S, Lonigro R, Pintonello L, et al. (1994). "The thyroid transcription factor-1 gene is a candidate target for regulation by Hox proteins.". EMBO J. 13 (14): 3339–47. PMID 7913891.  
  • Miano JM, Firulli AB, Olson EN, et al. (1996). "Restricted expression of homeobox genes distinguishes fetal from adult human smooth muscle cells.". Proc. Natl. Acad. Sci. U.S.A. 93 (2): 900–5. PMID 8570656.  
  • Apiou F, Flagiello D, Cillo C, et al. (1996). "Fine mapping of human HOX gene clusters.". Cytogenet. Cell Genet. 73 (1-2): 114–5. PMID 8646877.  
  • Berthelsen J, Zappavigna V, Ferretti E, et al. (1998). "The novel homeoprotein Prep1 modulates Pbx-Hox protein cooperativity.". EMBO J. 17 (5): 1434–45. doi:10.1093/emboj/17.5.1434. PMID 9482740.  
  • Piper DE, Batchelor AH, Chang CP, et al. (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): 587–97. PMID 10052460.  
  • Jungbluth S, Bell E, Lumsden A (1999). "Specification of distinct motor neuron identities by the singular activities of individual Hox genes.". Development 126 (12): 2751–8. PMID 10331985.  
  • Jacobs Y, Schnabel CA, Cleary ML (1999). "Trimeric association of Hox and TALE homeodomain proteins mediates Hoxb2 hindbrain enhancer activity.". Mol. Cell. Biol. 19 (7): 5134–42. PMID 10373562.  
  • Faiella A, Zortea M, Barbaria E, et al. (2000). "A genetic polymorphism in the human HOXB1 homeobox gene implying a 9bp tandem repeat in the amino-terminal coding region. Mutations in brief no. 200. Online.". Hum. Mutat. 12 (5): 363. PMID 10671062.  
  • Mikkola I, Bruun JA, Holm T, Johansen T (2001). "Superactivation of Pax6-mediated transactivation from paired domain-binding sites by dna-independent recruitment of different homeodomain proteins.". J. Biol. Chem. 276 (6): 4109–18. doi:10.1074/jbc.M008882200. PMID 11069920.  
  • Ingram JL, Stodgell CJ, Hyman SL, et al. (2001). "Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders.". Teratology 62 (6): 393–405. doi:10.1002/1096-9926(200012)62:6<393::AID-TERA6>3.0.CO;2-V. PMID 11091361.  
  • Di Rocco G, Gavalas A, Popperl H, et al. (2001). "The recruitment of SOX/OCT complexes and the differential activity of HOXA1 and HOXB1 modulate the Hoxb1 auto-regulatory enhancer function.". J. Biol. Chem. 276 (23): 20506–15. doi:10.1074/jbc.M011175200. PMID 11278854.  
  • Li J, Tabor HK, Nguyen L, et al. (2002). "Lack of association between HoxA1 and HoxB1 gene variants and autism in 110 multiplex families.". Am. J. Med. Genet. 114 (1): 24–30. PMID 11840501.  
  • Kosaki K, Kosaki R, Suzuki T, et al. (2002). "Complete mutation analysis panel of the 39 human HOX genes.". Teratology 65 (2): 50–62. doi:10.1002/tera.10009. PMID 11857506.  
  • Fognani C, Kilstrup-Nielsen C, Berthelsen J, et al. (2002). "Characterization of PREP2, a paralog of PREP1, which defines a novel sub-family of the MEINOX TALE homeodomain transcription factors.". Nucleic Acids Res. 30 (9): 2043–51. PMID 11972344.  
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.  
  • Subramaniam N, Campión J, Rafter I, Okret S (2003). "Cross-talk between glucocorticoid and retinoic acid signals involving glucocorticoid receptor interaction with the homoeodomain protein Pbx1.". Biochem. J. 370 (Pt 3): 1087–95. doi:10.1042/BJ20020471. PMID 12487626.  

External links

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



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