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Gene Review

HMBOX1  -  homeobox containing 1

Homo sapiens

Synonyms: FLJ21616, HNF1LA, HOT1, Homeobox-containing protein 1, PBHNF
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Disease relevance of HMBOX1


Psychiatry related information on HMBOX1


High impact information on HMBOX1


Biological context of HMBOX1

  • According to the genome database, HMBOX1 is located at the boundary of 8p12.3 and 8p21 [12].
  • Co-transfection of HEK-293T cells with pM-HMBOX1 plasmid and reporter plasmid pGAL4(5)tkLUC indicates that HMBOX1 is a transcription repressor [12].
  • To isolate homeobox-containing sequences from the plant Arabidopsis thaliana, a cDNA library was screened with a highly degenerate oligonucleotide corresponding to a conserved eight amino acid sequence from the helix-3 region of the homeodomain [13].
  • Hox-5.1 defines a homeobox-containing gene locus on mouse chromosome 2 [14].
  • We investigated the role of homeobox-containing genes in human hematopoiesis because homeobox genes (i) control cell fate in the Drosophila embryo, (ii) are expressed in specific patterns in human embryos, and (iii) appear to function as transcription factors that control cell phenotype in other mammalian organs [3].

Anatomical context of HMBOX1


Associations of HMBOX1 with chemical compounds


Physical interactions of HMBOX1


Regulatory relationships of HMBOX1


Other interactions of HMBOX1


Analytical, diagnostic and therapeutic context of HMBOX1


  1. Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. Ton, C.C., Hirvonen, H., Miwa, H., Weil, M.M., Monaghan, P., Jordan, T., van Heyningen, V., Hastie, N.D., Meijers-Heijboer, H., Drechsler, M. Cell (1991) [Pubmed]
  2. Selective repression of transcriptional activators by Pbx1 does not require the homeodomain. Lu, Q., Kamps, M.P. Proc. Natl. Acad. Sci. U.S.A. (1996) [Pubmed]
  3. Lineage-restricted expression of homeobox-containing genes in human hematopoietic cell lines. Shen, W.F., Largman, C., Lowney, P., Corral, J.C., Detmer, K., Hauser, C.A., Simonitch, T.A., Hack, F.M., Lawrence, H.J. Proc. Natl. Acad. Sci. U.S.A. (1989) [Pubmed]
  4. High level expression of the homeobox gene HB24 in a human T-cell line confers the ability to form tumors in nude mice. Deguchi, Y., Kehrl, J.H. Cancer Res. (1993) [Pubmed]
  5. A human Hox 1 homeobox gene exhibits myeloid-specific expression of alternative transcripts in human hematopoietic cells. Lowney, P., Corral, J., Detmer, K., LeBeau, M.M., Deaven, L., Lawrence, H.J., Largman, C. Nucleic Acids Res. (1991) [Pubmed]
  6. The Caenorhabditis elegans aristaless orthologue, alr-1, is required for maintaining the functional and structural integrity of the amphid sensory organs. Tucker, M., Sieber, M., Morphew, M., Han, M. Mol. Biol. Cell (2005) [Pubmed]
  7. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Rao, E., Weiss, B., Fukami, M., Rump, A., Niesler, B., Mertz, A., Muroya, K., Binder, G., Kirsch, S., Winkelmann, M., Nordsiek, G., Heinrich, U., Breuning, M.H., Ranke, M.B., Rosenthal, A., Ogata, T., Rappold, G.A. Nat. Genet. (1997) [Pubmed]
  8. Prenatal folic acid treatment suppresses acrania and meroanencephaly in mice mutant for the Cart1 homeobox gene. Zhao, Q., Behringer, R.R., de Crombrugghe, B. Nat. Genet. (1996) [Pubmed]
  9. extradenticle, a regulator of homeotic gene activity, is a homolog of the homeobox-containing human proto-oncogene pbx1. Rauskolb, C., Peifer, M., Wieschaus, E. Cell (1993) [Pubmed]
  10. HOM/HOX homeobox genes are present in hydra (Chlorohydra viridissima) and are differentially expressed during regeneration. Schummer, M., Scheurlen, I., Schaller, C., Galliot, B. EMBO J. (1992) [Pubmed]
  11. The tcl-3 proto-oncogene altered by chromosomal translocation in T-cell leukemia codes for a homeobox protein. Lu, M., Gong, Z.Y., Shen, W.F., Ho, A.D. EMBO J. (1991) [Pubmed]
  12. Isolation and functional analysis of human HMBOX1, a homeobox containing protein with transcriptional repressor activity. Chen, S., Saiyin, H., Zeng, X., Xi, J., Liu, X., Li, X., Yu, L. Cytogenet. Genome Res. (2006) [Pubmed]
  13. A novel class of plant proteins containing a homeodomain with a closely linked leucine zipper motif. Ruberti, I., Sessa, G., Lucchetti, S., Morelli, G. EMBO J. (1991) [Pubmed]
  14. Hox-5.1 defines a homeobox-containing gene locus on mouse chromosome 2. Featherstone, M.S., Baron, A., Gaunt, S.J., Mattei, M.G., Duboule, D. Proc. Natl. Acad. Sci. U.S.A. (1988) [Pubmed]
  15. Pendrin is a novel in vivo downstream target gene of the TTF-1/Nkx-2.1 homeodomain transcription factor in differentiated thyroid cells. Dentice, M., Luongo, C., Elefante, A., Ambrosio, R., Salzano, S., Zannini, M., Nitsch, R., Di Lauro, R., Rossi, G., Fenzi, G., Salvatore, D. Mol. Cell. Biol. (2005) [Pubmed]
  16. Vax1 is a novel homeobox-containing gene expressed in the developing anterior ventral forebrain. Hallonet, M., Hollemann, T., Wehr, R., Jenkins, N.A., Copeland, N.G., Pieler, T., Gruss, P. Development (1998) [Pubmed]
  17. Implication of OTX2 in pigment epithelium determination and neural retina differentiation. Bovolenta, P., Mallamaci, A., Briata, P., Corte, G., Boncinelli, E. J. Neurosci. (1997) [Pubmed]
  18. Chondrocyte differentiation. Cancedda, R., Descalzi Cancedda, F., Castagnola, P. Int. Rev. Cytol. (1995) [Pubmed]
  19. Oestrogen-modulated gene expression in the human endometrium. Punyadeera, C., Dassen, H., Klomp, J., Dunselman, G., Kamps, R., Dijcks, F., Ederveen, A., de Goeij, A., Groothuis, P. Cell. Mol. Life Sci. (2005) [Pubmed]
  20. Identification of a homeobox-containing gene with enhanced expression during soybean (Glycine max L.) somatic embryo development. Ma, H., McMullen, M.D., Finer, J.J. Plant Mol. Biol. (1994) [Pubmed]
  21. Retinoic acid down-regulates the expression of EmH-3 homeobox-containing gene in the freshwater sponge Ephydatia muelleri. Nikko, E., Van de Vyver, G., Richelle-Maurer, E. Mech. Ageing Dev. (2001) [Pubmed]
  22. Lineage and stage specific expression of HOX 1 genes in the human hematopoietic system. Vieille-Grosjean, I., Roullot, V., Courtois, G. Biochem. Biophys. Res. Commun. (1992) [Pubmed]
  23. Identification of homeobox-containing genes expressed in hematopoietic blast cells. Vieille-Grosjean, I., Roullot, V., Courtois, G. Biochem. Biophys. Res. Commun. (1992) [Pubmed]
  24. Identification and characterization of human PKNOX2, a novel homeobox-containing gene. Imoto, I., Sonoda, I., Yuki, Y., Inazawa, J. Biochem. Biophys. Res. Commun. (2001) [Pubmed]
  25. Mutations in HOXD13 Underlie Syndactyly Type V and a Novel Brachydactyly-Syndactyly Syndrome. Zhao, X., Sun, M., Zhao, J., Leyva, J.A., Zhu, H., Yang, W., Zeng, X., Ao, Y., Liu, Q., Liu, G., Lo, W.H., Jabs, E.W., Amzel, L.M., Shan, X., Zhang, X. Am. J. Hum. Genet. (2007) [Pubmed]
  26. Regional assignment of the human homeobox-containing gene EN1 to chromosome 2q13-q21. Köhler, A., Logan, C., Joyner, A.L., Muenke, M. Genomics (1993) [Pubmed]
  27. Characterization and sequence analysis of the human homeobox-containing gene GBX2. Lin, X., Swaroop, A., Vaccarino, F.M., Murtha, M.T., Haas, M., Ji, X., Ruddle, F.H., Leckman, J.F. Genomics (1996) [Pubmed]
  28. Molecular cloning, chromosomal mapping and developmental expression of BAPX1, a novel human homeobox-containing gene homologous to Drosophila bagpipe. Tribioli, C., Lufkin, T. Gene (1997) [Pubmed]
  29. Quox-1, a quail homeobox gene expressed in the embryonic central nervous system, including the forebrain. Xue, Z.G., Gehring, W.J., Le Douarin, N.M. Proc. Natl. Acad. Sci. U.S.A. (1991) [Pubmed]
  30. Molecular cloning and characterization of human cardiac homeobox gene CSX1. Shiojima, I., Komuro, I., Mizuno, T., Aikawa, R., Akazawa, H., Oka, T., Yamazaki, T., Yazaki, Y. Circ. Res. (1996) [Pubmed]
  31. A mutational analysis of the 5' HoxD genes: dissection of genetic interactions during limb development in the mouse. Davis, A.P., Capecchi, M.R. Development (1996) [Pubmed]
  32. Expression of a novel human homeobox-containing gene that maps to chromosome 7q36.1 in hematopoietic cells. Matsui, T., Hirai, M., Wakita, M., Hirano, M., Kurosawa, Y. FEBS Lett. (1993) [Pubmed]
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