GeneID: 16


Common Name: HBS1L-MYB Type: Intergenic Region
Chromosome: 6 (NC_000006.12) Locus: NT_025741.15 (HBS1L-MYB)
HUGO Symbol: HBS1L-MYB Full Name: N/A
Exons: N/A Introns: N/A

The HBS1L gene encodes a member of the GTP-binding elongation factor family. It is expressed in multiple tissues with the highest expression in heart and skeletal muscle. A single nucleotide polymorphism in exon 1 of the HBS1L gene is significantly associated with severity in beta-thalassaemia/Haemoglobin E. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. The MYB gene encodes a transcription factor that is a member of the MYB family of transcription factor genes. The protein contains three domains, an N-terminal DNA-binding domain, a central transcriptional activation domain and a C-terminal domain involved in transcriptional repression. MYB protein plays an essential role in the regulation of haematopoiesis and may play a role in tumorigenesis. Alternative splicing results in multiple transcript variants. This intergenic region (HBS1L-MYB) has been identified to be a quantitative trait locus (QTL) controlling fetal haemoglobin level, and has been shown to influnce erythrocyte, platelet, and monocyte counts as well as erythrocyte volume and hemoglobin content. DNA polymorphisms at this region associated with fetal haemoglobin levels and pain crises in sickle cell patients.

Synonyms: N/A


External Links

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Sequence Viewer

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Publications / Origin

  1. Slamon DJ, Boone TC, Murdock DC, Keith DE, Press MF, Larson RA, Souza LM, Studies of the human c-myb gene and its product in human acute leukemias., Science , 233(4761), 347-51, 1986 PubMed
  2. Menzel S, Jiang J, Silver N, Gallagher J, Cunningham J, Surdulescu G, Lathrop M, Farrall M, Spector TD, Thein SL, The HBS1L-MYB intergenic region on chromosome 6q23.3 influences erythrocyte, platelet, and monocyte counts in humans., Blood , 110(10), 3624-6, 2007 PubMed
  3. Chen Y, Xu H, Liu J, Zhang C, Leutz A, Mo X, The c-Myb functions as a downstream target of PDGF-mediated survival signal in vascular smooth muscle cells., Biochem. Biophys. Res. Commun. , 360(2), 433-6, 2007 PubMed
  4. Pandit RA, Svasti S, Sripichai O, Munkongdee T, Triwitayakorn K, Winichagoon P, Fucharoen S, Peerapittayamongkol C, Association of SNP in exon 1 of HBS1L with hemoglobin F level in beta0-thalassemia/hemoglobin E., Int. J. Hematol. , 88(4), 357-61, 2008 PubMed
  5. Nguyen TK, Joly P, Bardel C, Moulsma M, Bonello-Palot N, Francina A, The XmnI (G)gamma polymorphism influences hemoglobin F synthesis contrary to BCL11A and HBS1L-MYB SNPs in a cohort of 57 beta-thalassemia intermedia patients., Blood Cells Mol. Dis. , 45(2), 124-7, 2010 PubMed
  6. Bae HT, Baldwin CT, Sebastiani P, Telen MJ, Ashley-Koch A, Garrett M, Hooper WC, Bean CJ, Debaun MR, Arking DE, Bhatnagar P, Casella JF, Keefer JR, Barron-Casella E, Gordeuk V, Kato GJ, Minniti C, Taylor J, Campbell A, Luchtman-Jones L, Hoppe C, Gladwin MT, Zhang Y, Steinberg MH, Meta-analysis of 2040 sickle cell anemia patients: BCL11A and HBS1L-MYB are the major modifiers of HbF in African Americans., Blood , 120(9), 1961-2, 2012 PubMed
Created on 2014-04-01 14:19:10, Last reviewed on 2016-04-28 11:57:10 (Show full history)

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