HBS1 like translational GTPase

HBS1 like translational GTPase is a protein that in humans is encoded by the HBS1L gene. ^[5]

HBS1L
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1UFZ
Identifiers
Aliases	HBS1L, EF-1a, ERFS, HBS1, HSPC276, eRF3c, HBS1 like translational GTPase
External IDs	OMIM: 612450; MGI: 1891704; HomoloGene: 68525; GeneCards: HBS1L; OMA:HBS1L - orthologs
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6q23.3 Start 134,960,378 bp[1] End 135,103,056 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10|10 A3 Start 21,171,878 bp[2] End 21,244,797 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon gastrocnemius muscle C1 segment muscle of thigh ventricular zone islet of Langerhans ganglionic eminence epithelium of colon stromal cell of endometrium triceps brachii muscle Top expressed in spermatid spermatocyte lens vastus lateralis muscle cardiac muscle tissue of left ventricle digastric muscle ventricular zone sternocleidomastoid muscle epiblast primitive streak More reference expression data BioGPS n/a
Gene ontology Molecular function nucleotide binding GTP binding GTPase activity translation elongation factor activity protein binding Cellular component extracellular exosome intracellular anatomical structure membrane cytosol Biological process translational elongation protein biosynthesis signal transduction exonucleolytic catabolism of deadenylated mRNA Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10767 56422 Ensembl ENSG00000112339 ENSMUSG00000019977 UniProt Q9Y450 Q69ZS7 RefSeq (mRNA) NM_001145158 NM_001145207 NM_006620 NM_001363686 NM_001042593 NM_001145209 NM_019702 RefSeq (protein) NP_001138630 NP_001138679 NP_006611 NP_001350615 NP_006611.1 NP_001036058 NP_001138681 NP_062676 Location (UCSC) Chr 6: 134.96 – 135.1 Mb Chr 10: 21.17 – 21.24 Mb PubMed search [3] [4]
Wikidata
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Function

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^{[citation needed]}, and this region influences 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.