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Gene Review

HBQ1  -  hemoglobin, theta 1

Homo sapiens

Synonyms: HBQ, Hemoglobin subunit theta-1, Hemoglobin theta-1 chain, Theta-1-globin
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Disease relevance of HBQ1


High impact information on HBQ1

  • Here we present the complete DNA sequence of a cloned theta 1-globin gene of humans, and show that it contains no apparent defects that would abolish its expression [1].
  • Our results provide strong evidence that the theta 1-globin gene of humans is transcriptionally active in cells of erythroid origin, and suggests the presence of a functional theta 1-polypeptide in specific cells, possibly those of early erythroid tissue [1].
  • Both theta 1-globin genes are split into three exons with the potential to code for a polypeptide of length 141 amino acids [1].
  • The putative polypeptide is 141 amino acids long, identical to that of the alpha- or zeta-globin, but its predicted amino-acid sequence is nearly as different from the orang-utan alpha-globin (55 differences) as the human zeta-globin is from the human alpha-globin (59 differences), suggesting an ancient history for the theta 1-globin gene [2].
  • The conservation of this novel arrangement among the higher primates suggests that an inserted Alu family repeat and its flanking genomic sequence have co-evolved, for at least 30 million years, to provide the canonical CCAAT and TATA promoter elements of the theta 1 globin genes in higher primates [3].

Biological context of HBQ1


Anatomical context of HBQ1


Other interactions of HBQ1

  • We have detected a novel alpha-thalassemia-2 with a large (18+ kb) deletion involving the alpha 1- and theta 1-globin genes and the 3' hypervariable region sequence [7].


  1. Structure and expression of the human theta 1 globin gene. Hsu, S.L., Marks, J., Shaw, J.P., Tam, M., Higgs, D.R., Shen, C.C., Shen, C.K. Nature (1988) [Pubmed]
  2. Sequence organization and genomic complexity of primate theta 1 globin gene, a novel alpha-globin-like gene. Marks, J., Shaw, J.P., Shen, C.K. Nature (1986) [Pubmed]
  3. Unique sequence organization and erythroid cell-specific nuclear factor-binding of mammalian theta 1 globin promoters. Kim, J.H., Yu, C.Y., Bailey, A., Hardison, R., Shen, C.K. Nucleic Acids Res. (1989) [Pubmed]
  4. Zeta and theta 1-globin gene deletions located on the same chromosome. Ballas, S.K., Fei, Y.J., Huisman, T.H. Br. J. Haematol. (1989) [Pubmed]
  5. A new gene deletion involving the alpha 2-, alpha 1-, and theta 1-globin genes in a black family with Hb H disease. Fei, Y.J., Liu, J.C., Walker, E.L., Huisman, T.H. Am. J. Hematol. (1992) [Pubmed]
  6. Developmental and inducible patterns of human theta 1-globin gene expression in embryonic/fetal and adult erythroid cells. Mamalaki, A., Anagnou, N.P., Moschonas, N.K. Am. J. Hematol. (1990) [Pubmed]
  7. A new alpha-thalassemia-2 deletion resulting in microcytosis and hypochromia and in vitro chain imbalance in the heterozygote. Indrak, K., Gu, Y.C., Novotny, J., Huisman, T.H. Am. J. Hematol. (1993) [Pubmed]
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