HBS1L HBS1 like translational GTPase
Gene ID: 10767, updated on 3-Nov-2024Gene type: protein coding
Also known as: ERFS; HBS1; EF-1a; eRF3c; HSPC276
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- Go to complete Gene record for HBS1L
- Go to Variation Viewer for HBS1L variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. GeneReviews: Not available | |
| A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E. GeneReviews: Not available | |
| A genome-wide association study of red blood cell traits using the electronic medical record. GeneReviews: Not available | |
| A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. GeneReviews: Not available | |
| A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans. GeneReviews: Not available | |
| Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
| Genome wide association analysis of a founder population identified TAF3 as a gene for MCHC in humans. GeneReviews: Not available | |
| Genome wide association study of fetal hemoglobin in sickle cell anemia in Tanzania. GeneReviews: Not available | |
| Genome-wide association study of hematological and biochemical traits in a Japanese population. GeneReviews: Not available | |
| GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. GeneReviews: Not available | |
| HbA2 levels in normal adults are influenced by two distinct genetic mechanisms. GeneReviews: Not available | |
| Identification of nine novel loci associated with white blood cell subtypes in a Japanese population. GeneReviews: Not available | |
| Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. GeneReviews: Not available | |
| Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians. GeneReviews: Not available | |
| New gene functions in megakaryopoiesis and platelet formation. GeneReviews: Not available | |
| Sequence variants in three loci influence monocyte counts and erythrocyte volume. GeneReviews: Not available | |
| Seventy-five genetic loci influencing the human red blood cell. GeneReviews: Not available | |
| Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma. GeneReviews: Not available |
Genomic context
- Location:
- 6q23.3
- Sequence:
- Chromosome: 6; NC_000006.12 (134960378..135054822, complement)
- Total number of exons:
- 20
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for HBS1L variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- HBS1L @ LOVD
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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