HBS1L

This 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. The intergenic region of this gene and the MYB gene has been identified to be a quantitative trait locus (QTL) controlling fetal hemoglobin level, and this region influnces erythrocyte, platelet, and monocyte counts as well as erythrocyte volume and hemoglobin content. DNA polymorphisms at this region associate with fetal hemoglobin levels and pain crises in sickle cell disease. A single nucleotide polymorphism in exon 1 of this gene is significantly associated with severity in beta-thalassemia/Hemoglobin E. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, May 2009]

Description

HBS1 like translational GTPase

Tissue specificity

Low tissue specificity

Subcell location

Nuclear bodies, Cytosol

Predicted location

Intracellular, Membrane

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

6 (134960378 - 135103056)

Ensembl ID

ENSG00000112339  (ver. 103.38)

Orthologs

Mouse Hbs1l: ENSMUSG00000019977

UniProt

Q9Y450

neXtProt

NX_Q9Y450

Human splice variants
Mouse splice variants

Protein structure