HBQ1

From Wikipedia, the free encyclopedia


Hemoglobin, theta 1
Identifiers
Symbol(s) HBQ1;
External IDs OMIM: 142240 MGI3613460 HomoloGene3895
RNA expression pattern

More reference expression data

Orthologs
Human Mouse
Entrez 3049 544763
Ensembl ENSG00000086506 ENSMUSG00000073063
Uniprot P09105 n/a
Refseq NM_005331 (mRNA)
NP_005322 (protein)
NM_001033981 (mRNA)
NP_001029153 (protein)
Location Chr 16: 0.17 - 0.17 Mb Chr 11: 32.19 - 32.19 Mb
Pubmed search [1] [2]

Hemoglobin, theta 1, also known as HBQ1, is a human gene.[1]

Theta-globin mRNA is found in human fetal erythroid tissue but not in adult erythroid or other nonerythroid tissue. The theta-1 gene may be expressed very early in embryonic life, perhaps sometime before 5 weeks. Theta-1 is a member of the human alpha-globin gene cluster that involves five functional genes and two pseudogenes. The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-2 -pseudoalpha-1 - alpha-2 - alpha-1 - theta-1 - 3'. Research supports a transcriptionally active role for the gene and a functional role for the peptide in specific cells, possibly those of early erythroid tissue.[1]

[edit] References

[edit] Further reading

  • Higgs DR, Vickers MA, Wilkie AO, et al. (1989). "A review of the molecular genetics of the human alpha-globin gene cluster.". Blood 73 (5): 1081-104. PMID 2649166. 
  • Giardina B, Messana I, Scatena R, Castagnola M (1995). "The multiple functions of hemoglobin.". Crit. Rev. Biochem. Mol. Biol. 30 (3): 165-96. PMID 7555018. 
  • Kim JH, Yu CY, Bailey A, et al. (1989). "Unique sequence organization and erythroid cell-specific nuclear factor-binding of mammalian theta 1 globin promoters.". Nucleic Acids Res. 17 (14): 5687-700. PMID 2569721. 
  • Ley TJ, Maloney KA, Gordon JI, Schwartz AL (1989). "Globin gene expression in erythroid human fetal liver cells.". J. Clin. Invest. 83 (3): 1032-8. PMID 2921315. 
  • Gonzalez-Redondo JM, Han IS, Gu YC, Huisman TH (1988). "Nucleotide sequence of the human theta 1-globin gene.". Biochem. Genet. 26 (3-4): 207-11. PMID 3408475. 
  • Hsu SL, Marks J, Shaw JP, et al. (1988). "Structure and expression of the human theta 1 globin gene.". Nature 331 (6151): 94-6. doi:10.1038/331094a0. PMID 3422341. 
  • Daniels RJ, Peden JF, Lloyd C, et al. (2001). "Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16.". Hum. Mol. Genet. 10 (4): 339-52. PMID 11157797. 
  • 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. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121-7. doi:10.1101/gr.2596504. PMID 15489334. 
  • De Gobbi M, Viprakasit V, Hughes JR, et al. (2006). "A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter.". Science 312 (5777): 1215-7. doi:10.1126/science.1126431. PMID 16728641.