HBS1L

Entrez Summary: 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].
UniProt Summary: N/A

Pfam Domains GO Terms

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Global Fraction of Cell Lines Where Essential: 1/739

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	0/28
blood	0/28
bone	0/26
breast	1/33
central nervous system	0/56
cervix	0/4
colorectal	0/17
esophagus	0/13
fibroblast	0/1
gastric	0/16
kidney	0/21
liver	0/20
lung	0/75
lymphocyte	0/16
ovary	0/26
pancreas	0/24
peripheral nervous system	0/16
plasma cell	0/15
prostate	0/1
skin	0/24
soft tissue	0/9
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/29
uterus	0/5

Expression Distribution

translation elongation factor activity
exonucleolytic catabolism of deadenylated mRNA
nuclear-transcribed mRNA catabolic process, exonucleolytic
nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay
translational elongation
nuclear-transcribed mRNA catabolic process
mRNA catabolic process
RNA catabolic process
GTPase activity
nucleobase-containing compound catabolic process
translation
GTP binding
peptide biosynthetic process
heterocycle catabolic process
cellular nitrogen compound catabolic process
aromatic compound catabolic process
organic cyclic compound catabolic process
amide biosynthetic process
peptide metabolic process
mRNA metabolic process
cellular amide metabolic process
cellular macromolecule catabolic process
macromolecule catabolic process
organonitrogen compound biosynthetic process
cellular nitrogen compound biosynthetic process
RNA metabolic process
cellular macromolecule biosynthetic process
negative regulation of gene expression
macromolecule biosynthetic process
organic substance catabolic process
cellular catabolic process
membrane
gene expression