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Gene Review

HOXB1  -  homeobox B1

Homo sapiens

Synonyms: HCFP3, HOX2, HOX2I, Homeobox protein Hox-2I, Homeobox protein Hox-B1, ...
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Disease relevance of HOXB1

  • Furthermore, we found that in an embryonal carcinoma cell background, HOXB1 has a significantly higher transcriptional activity than its paralog HOXA1 [1].
  • It was determined that HOXB1, B3, B5, B6, B7, B8, and B9 genes are expressed in normal adult cervical epithelium and squamous cervical carcinomas [2].
  • Concerted 5' ABL1 deletions in patient samples with a chromosome 9;22 translocation and chronic myelogenous leukemia were confirmed by comparison of the mean fluorescence intensities of ABL1 test probes with a HOXB1 reference probe [3].
  • We investigated the expression and function of HOXB cluster genes in human melanoma [4].
  • All of the mutants that survived to 3 weeks of age showed marked facial paralysis similar to, but more severe than, that reported for hoxb-1 mutant homozygotes (Goddard, J. M., Rossel, M., Manley, N. R. and Capecchi, M. R. (1996) Development 122, 3217-3228) [5].

High impact information on HOXB1

  • Interaction with Prep1 enhances the ability of the HOXB1-Pbx1 complex to activate transcription in a cooperative fashion from the same target [6].
  • Functional dissection of the complex allowed the localization of the main activation domain in the HOXB1 N-terminal region, and of an additional one in the C-terminal region of Pbx1 contained in the Pbx1a but not in the alternatively spliced Pbx1b isoform [7].
  • Positional candidate genes that belong to the growth hormone and homeobox B gene clusters were excluded [8].
  • These data define an unusual regulatory mechanism leading to the establishment of HOXB1 gene expression [9].
  • A retinoic acid-triggered cascade of HOXB1 gene activation [10].

Chemical compound and disease context of HOXB1


Biological context of HOXB1


Anatomical context of HOXB1

  • We report that the human Pbx1 and HOXB1 proteins can cooperatively activate transcription through a genetically characterized Hox target, i.e. an autoregulatory element directing spatially restricted expression of the murine Hoxb-1 gene (b1-ARE) in the developing hindbrain [7].
  • Next, we have attempted to identify the precise branchiomotor subtypes that are generated after misexpression and our results suggest that the ectopic motor neurons generated following Hoxa2 misexpression are trigeminal-like, while those generated following Hoxb1 misexpression are facial-like [15].
  • As for the hoxb-1 mutations, the facial paralysis observed in mice homozygous for the hoxb-2 mutation results from a failure to form the somatic motor component of the VIIth (facial) nerve which controls the muscles of facial expression [5].
  • Remarkably, within the hematopoietic compartment, genes of the HOXB complex are expressed specifically in erythromegakaryocytic cell lines and, for some of them, in hematopoietic progenitors [16].
  • HOXB cluster genes in activated natural killer lymphocytes: expression from 3'-->5' cluster side and proliferative function [17].

Associations of HOXB1 with chemical compounds

  • Evidence for two distinct retinoic acid response pathways for HOXB1 gene regulation [9].
  • Through neither enhancer alone is functional, this combined element strongly activates the HOXB1 promoter in a cell-specific and retinoid-dependent manner [10].
  • Several lines of evidence suggest that multiple genes of the HOXB (B2, B4, B6-B9), HOXC (C6, C8), and HOXA (A5) are involved in erythropoiesis [18].
  • Recently, it has been shown that expression of human HOX 2 genes is sequentially activated by RA beginning from Hox 2.9 at the 3' end of the HOX 2 cluster (A. Simeone, D. Acampora, L. Arcioni, P. W. Andrews, E. Boncinelli, and F. Mavilio, Nature [London] 346:763-766, 1990) [19].

Physical interactions of HOXB1


Other interactions of HOXB1

  • Similarly, overexpression of different combinations of PBX1, PREP1, and HOXB1 transactivates FPB-driven transcription [12].
  • HOXB1, HOXB3, and nuclear extracts from 12.5 days postcoitum mouse embryos bind to a sequence containing two palindromic TAATTA sites, which bear four copies of the ATTA core sequence, a common feature of most HOM-C/HOX binding sites [21].
  • Inhibition of retinoic acid-induced activation of 3' human HOXB genes by antisense oligonucleotides affects sequential activation of genes located upstream in the four HOX clusters [22].
  • Here, we report the study of HOXB2 gene transcriptional regulation in hematopoietic cells, an initial step in understanding the lineage-specific expression of the whole HOXB complex in these cells [16].
  • Thus, 1) a coordinate activation of HOXB genes from the 3'-->5' cluster side apparently underlies IL-2/IL-1 beta-induced NK cell activation [17].

Analytical, diagnostic and therapeutic context of HOXB1

  • Reverse transcription-polymerase chain reaction analysis and nonradioactive RNA in situ hybridization were used to detect HOXB expression in 11 normal cervical tissues and 17 cervical carcinomas [2].
  • We have also investigated the region-specific expression of HOX-2 genes in human embryonic-fetal life by Northern-blot analysis [23].
  • We investigated the expression of HOXB cluster genes in purified phytohemagglutinin (PHA)-activated T lymphocytes from normal adult peripheral blood by reverse transcription PCR and RNase protection [24].
  • We have investigated by reverse transcription-polymerase chain reaction (RT-PCR) the mRNA expression of homeobox B (HOXB) cluster genes in purified HPCs induced in liquid suspension culture to gradual erythroid or granulopoietic (largely eosinophilic) differentiation and maturation by differential growth factor (GF) stimulus [25].


  1. The recruitment of SOX/OCT complexes and the differential activity of HOXA1 and HOXB1 modulate the Hoxb1 auto-regulatory enhancer function. Di Rocco, G., Gavalas, A., Popperl, H., Krumlauf, R., Mavilio, F., Zappavigna, V. J. Biol. Chem. (2001) [Pubmed]
  2. HOXB homeobox gene expression in cervical carcinoma. López, R., Garrido, E., Piña, P., Hidalgo, A., Lazos, M., Ochoa, R., Salcedo, M. Int. J. Gynecol. Cancer (2006) [Pubmed]
  3. Determination of genomic copy number with quantitative microsphere hybridization. Newkirk, H.L., Rogan, P.K., Miralles, M., Knoll, J.H. Hum. Mutat. (2006) [Pubmed]
  4. HOXB7 constitutively activates basic fibroblast growth factor in melanomas. Caré, A., Silvani, A., Meccia, E., Mattia, G., Stoppacciaro, A., Parmiani, G., Peschle, C., Colombo, M.P. Mol. Cell. Biol. (1996) [Pubmed]
  5. Targeted disruption of the Hoxb-2 locus in mice interferes with expression of Hoxb-1 and Hoxb-4. Barrow, J.R., Capecchi, M.R. Development (1996) [Pubmed]
  6. The novel homeoprotein Prep1 modulates Pbx-Hox protein cooperativity. Berthelsen, J., Zappavigna, V., Ferretti, E., Mavilio, F., Blasi, F. EMBO J. (1998) [Pubmed]
  7. Functional dissection of a transcriptionally active, target-specific Hox-Pbx complex. Di Rocco, G., Mavilio, F., Zappavigna, V. EMBO J. (1997) [Pubmed]
  8. Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis. Avela, K., Lipsanen-Nyman, M., Perheentupa, J., Wallgren-Pettersson, C., Marchand, S., Fauré, S., Sistonen, P., de la Chapelle, A., Lehesjoki, A.E. Am. J. Hum. Genet. (1997) [Pubmed]
  9. Evidence for two distinct retinoic acid response pathways for HOXB1 gene regulation. Ogura, T., Evans, R.M. Proc. Natl. Acad. Sci. U.S.A. (1995) [Pubmed]
  10. A retinoic acid-triggered cascade of HOXB1 gene activation. Ogura, T., Evans, R.M. Proc. Natl. Acad. Sci. U.S.A. (1995) [Pubmed]
  11. Distinct patterns of all-trans retinoic acid dependent expression of HOXB and HOXC homeogenes in human embryonal and small-cell lung carcinoma cell lines. Flagiello, D., Gibaud, A., Dutrillaux, B., Poupon, M.F., Malfoy, B. FEBS Lett. (1997) [Pubmed]
  12. Cooperative interactions between PBX, PREP, and HOX proteins modulate the activity of the alpha 2(V) collagen (COL5A2) promoter. Penkov, D., Tanaka, S., Di Rocco, G., Berthelsen, J., Blasi, F., Ramirez, F. J. Biol. Chem. (2000) [Pubmed]
  13. 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. Faiella, A., Zortea, M., Barbaria, E., Albani, F., Capra, V., Cama, A., Boncinelli, E. Hum. Mutat. (1998) [Pubmed]
  14. Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders. Ingram, J.L., Stodgell, C.J., Hyman, S.L., Figlewicz, D.A., Weitkamp, L.R., Rodier, P.M. Teratology (2000) [Pubmed]
  15. Specification of distinct motor neuron identities by the singular activities of individual Hox genes. Jungbluth, S., Bell, E., Lumsden, A. Development (1999) [Pubmed]
  16. Transcription factor GATA-1 regulates human HOXB2 gene expression in erythroid cells. Vieille-Grosjean, I., Huber, P. J. Biol. Chem. (1995) [Pubmed]
  17. HOXB cluster genes in activated natural killer lymphocytes: expression from 3'-->5' cluster side and proliferative function. Quaranta, M.T., Petrini, M., Tritarelli, E., Samoggia, P., Carè, A., Bottero, L., Testa, U., Peschle, C. J. Immunol. (1996) [Pubmed]
  18. Effects of HOX homeobox genes in blood cell differentiation. Magli, M.C., Largman, C., Lawrence, H.J. J. Cell. Physiol. (1997) [Pubmed]
  19. Alteration of homeobox gene expression by N-ras transformation of PA-1 human teratocarcinoma cells. Buettner, R., Yim, S.O., Hong, Y.S., Boncinelli, E., Tainsky, M.A. Mol. Cell. Biol. (1991) [Pubmed]
  20. Enhanced autophagic cell death in expanded polyhistidine variants of HOXA1 reduces PBX1-coupled transcriptional activity and inhibits neuronal differentiation. Paraguison, R.C., Higaki, K., Yamamoto, K., Matsumoto, H., Sasaki, T., Kato, N., Nanba, E. J. Neurosci. Res. (2007) [Pubmed]
  21. Regulatory interactions between the human HOXB1, HOXB2, and HOXB3 proteins and the upstream sequence of the Otx2 gene in embryonal carcinoma cells. Guazzi, S., Pintonello, M.L., Viganò, A., Boncinelli, E. J. Biol. Chem. (1998) [Pubmed]
  22. Inhibition of retinoic acid-induced activation of 3' human HOXB genes by antisense oligonucleotides affects sequential activation of genes located upstream in the four HOX clusters. Faiella, A., Zappavigna, V., Mavilio, F., Boncinelli, E. Proc. Natl. Acad. Sci. U.S.A. (1994) [Pubmed]
  23. Differential expression of human HOX-2 genes along the anterior-posterior axis in embryonic central nervous system. Giampaolo, A., Acampora, D., Zappavigna, V., Pannese, M., D'Esposito, M., Carè, A., Faiella, A., Stornaiuolo, A., Russo, G., Simeone, A. Differentiation (1989) [Pubmed]
  24. Coordinate expression and proliferative role of HOXB genes in activated adult T lymphocytes. Carè, A., Testa, U., Bassani, A., Tritarelli, E., Montesoro, E., Samoggia, P., Cianetti, L., Peschle, C. Mol. Cell. Biol. (1994) [Pubmed]
  25. HOXB gene expression and function in differentiating purified hematopoietic progenitors. Giampaolo, A., Pelosi, E., Valtieri, M., Montesoro, E., Sterpetti, P., Samoggia, P., Camagna, A., Mastroberardino, G., Gabbianelli, M., Testa, U. Stem Cells (1995) [Pubmed]
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