HBQ1

Summary

Hemoglobin subunit theta-1 is a protein that in humans is encoded by the HBQ1 gene.[5][6]

HBQ1
Identifiers
AliasesHBQ1, HBQ, hemoglobin subunit theta 1
External IDsOMIM: 142240 MGI: 3613460 HomoloGene: 3895 GeneCards: HBQ1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005331

NM_001033981

RefSeq (protein)

NP_005322

NP_001029153

Location (UCSC)Chr 16: 0.18 – 0.18 MbChr 11: 32.24 – 32.24 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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-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.[6]

References edit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000086506 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000073063 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ (May 1989). "A review of the molecular genetics of the human alpha-globin gene cluster". Blood. 73 (5): 1081–104. doi:10.1182/blood.V73.5.1081.1081. PMID 2649166.
  6. ^ a b "Entrez Gene: HBQ1 hemoglobin, theta 1".

Further reading edit

  • Giardina B, Messana I, Scatena R, Castagnola M (1995). "The multiple functions of hemoglobin". Crit. Rev. Biochem. Mol. Biol. 30 (3): 165–96. doi:10.3109/10409239509085142. 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. doi:10.1093/nar/17.14.5687. PMC 318189. 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. doi:10.1172/JCI113944. PMC 303780. 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. doi:10.1007/BF00561460. PMID 3408475. S2CID 19352648.
  • Hsu SL, Marks J, Shaw JP, et al. (1988). "Structure and expression of the human theta 1 globin gene". Nature. 331 (6151): 94–6. Bibcode:1988Natur.331...94H. doi:10.1038/331094a0. PMID 3422341. S2CID 4357357.
  • 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. doi:10.1093/hmg/10.4.339. 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. 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. PMC 528928. 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. Bibcode:2006Sci...312.1215D. doi:10.1126/science.1126431. PMID 16728641. S2CID 16044469.