GeneID: 147



Names

Common Name: HBS1L Type: Gene
Chromosome: 6 (NC_000006.12) Locus: NG_012002.1 (HBS1L)
HUGO Symbol: HBS1L Full Name: HBS1 like translational GTPase
Exons: 18 Introns: 17

Description:
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 β-thalassaemia/Haemoglobin E. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. The intergenic region of this gene and the MYB gene has been identified to be a quantitative trait locus (QTL) controlling fetal haemoglobin level, and this region influnces erythrocyte, platelet, and monocyte counts as well as erythrocyte volume and haemoglobin content. Polymorphisms at this region associated with fetal haemoglobin levels and pain crises in sickle cell disease.

Synonyms: ERFS , HBS1 , EF-1a , eRF3c , HSPC276 , DKFZp434g247 , KIAA1038

Comments:
N/A

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Publications / Origin

  1. Thein SL, Menzel S, Peng X, Best S, Jiang J, Close J, Silver N, Gerovasilli A, Ping C, Yamaguchi M, Wahlberg K, Ulug P, Spector TD, Garner C, Matsuda F, Farrall M, Lathrop M, Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults., Proc. Natl. Acad. Sci. U.S.A. , 104(27), 11346-51, 2007 PubMed
  2. 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
  3. Stadhouders R, Aktuna S, Thongjuea S, Aghajanirefah A, Pourfarzad F, van Ijcken W, Lenhard B, Rooks H, Best S, Menzel S, Grosveld F, Thein SL, Soler E, HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers., J. Clin. Invest. , 124(4), 1699-710, 2014 PubMed
Created on 2016-05-06 15:12:00, Last reviewed on (Show full history)


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