Ask about this productRelated genes to: HBS1L antibody
- Gene:
- HBS1L NIH gene
- Name:
- HBS1 like translational GTPase
- Previous symbol:
- -
- Synonyms:
- ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c
- Chromosome:
- 6q23.3
- Locus Type:
- gene with protein product
- Date approved:
- 2000-02-18
- Date modifiied:
- 2015-11-18
Related products to: HBS1L antibody
Related articles to: HBS1L antibody
- Deletion mutations in the translation termination factor HBS1L result in progressive loss of vision in human patients, amongst other developmental anomalies. The etiology of vision defects seen with HBS1L deletion remains unknown. Here, we use the Drosophila visual system to demonstrate that the HBS1L ortholog, Hbs1, and its interaction partner, Pelo, are required for proper phototransduction. Hbs1 mutants showed 'vacuolization' of the lamina layer, indicative of defective synapse transmission between photoreceptors and lamina neurons. Depleting Hbs1 in lamina neurons replicated the phototransduction defects seen in Hbs1 mutants, suggesting that Hbs1-Pelo is required for proper lamina neuron function. Mechanistically, we found that loss of HBS1L in both Drosophila and cultured human cells results in reduced levels of the stress responsive Activating Transcription Factor 4 (ATF4). Strikingly, restoring ATF4 expression in the lamina partially rescues ERG defects in Hbs1 mutants, indicating that ATF4 is likely a relevant mRNA target regulated by Hbs1-Pelo in these cells. Together, we propose a model wherein Hbs1-Pelo-mediated translation regulation of ATF4 in lamina neurons underlies the inherited retinal disease caused by HBS1L deletion. - Source: PubMed
Publication date: 2026/07/17
Tempro KatherineLago-Baldaia InêsNampoothiri V P NarayananGarbark ChristopherCarney Abby JFernandes Vilaiwan MVasudevan Deepika - We conducted a multi-ancestry genome-wide association study (GWAS) of developmental defects of enamel (DDE) in the primary dentition among 6,061 U.S. preschool-aged children (3-5 years). We investigated four DDE phenotypes (demarcated opacities, diffuse opacities, hypoplastic defects, and a combined DDE trait) leveraging main-effect models, joint gene-sex interaction testing (2df), and sex-stratified analyses. SNP-based heritability for the combined DDE trait was estimated at 20%, with concordance analyses robustly supporting a genetic etiology. We identified 39 unique genome-wide significant loci ( <5×10□□), with five surpassing a study-wide Bonferroni-corrected statistical significance criterion ( <1.25×10□□), including and . The main-effect GWAS identified 20 loci, including and , genes regulating hematopoiesis with plausible roles in amelogenesis. Joint test and sex-stratified analyses revealed 19 additional loci, including , , and , demonstrating sex-specific heterogeneity. Nineteen loci exhibited sex-specific differences after Bonferroni correction (P<2x10 ), including genes involved in retinoic acid signaling ( ), odontogenesis ( ), and neurodevelopment ( , ). Pathway enrichment highlighted ectodermal and synapse organization networks, suggesting shared etiological mechanisms between DDE and systemic conditions like neurofibromatosis and autism spectrum disorder. Notably, no locus generalized in an external GWAS of permanent dentition DDE, underscoring fundamental biological differences in the genetic architectures governing primary versus permanent enamel formation. Crucially, a comprehensive cross-trait pleiotropy lookup against early childhood caries (ECC) revealed no shared genetic architecture, supporting the notion that the established clinical and epidemiological association between DDE and ECC is likely driven by structural defects increasing caries lesion susceptibility rather than genetic pleiotropy. By integrating gene-sex interaction testing, this study offers novel insights into the complex, sexually dimorphic genetic etiology of DDE and augments the biological evidence base that can support the development of precision pediatric dentistry. - Source: PubMed
Publication date: 2026/07/10
Shrestha PGraff MGu YWang YAhn H SNguyen K NKhanna AAvery C LHighland H MGinnis JSimancas-Pallares M AFerreira Zandoná A GAlotaibi R NLin D YPreisser J SSlade G DMarazita M LNorth K EDivaris K - Thalidomide has been found to augment fetal hemoglobin (HbF) synthesis, thereby decreasing transfusion requirements in patients with β-thalassemia. Elevated fetal hemoglobin, influenced by genetic polymorphisms, can significantly modify the clinical severity of β-thalassemia. The study aimed to determine the frequency of the XmnI (rs7482144), BCL11A (rs766432), and HBS1L-MYB (rs9399137) polymorphisms in patients with β-thalassemia and to evaluate their association with the response to thalidomide therapy. - Source: PubMed
Publication date: 2026/07/07
Nazir IramSiddiqi Muhammad Younus JamalWadood MaeesaRizwan Muhammad - Sickle cell anemia (SCA) is a condition caused by a mutation in the HBB gene, leading to the production of hemoglobin S in red blood cells. Hydroxyurea (HU), used in treatment, increases fetal hemoglobin (HbF) levels, thereby reducing erythrocyte sickling, as do single-nucleotide polymorphisms (SNPs) in the BCL11A gene and the HBS1L-MYB intergenic region. In this study, we investigated the combined effects of HU therapy, β-globin haplotypes, and SNPs in BCL11A and the HBS1L-MYB intergenic region on HbF levels in a cohort from Western Bahia, Brazil. - Source: PubMed
Publication date: 2026/06/23
de Magalhães Filho Manoel FerreiraSantana Ilana Luize Rochada Silva Pâmela Lourdes PereiraVenancio Larissa Paola Rodrigues - RNA-binding proteins (RBPs) serve essential roles in various cancer types, but their functions in papillary renal cell carcinoma (pRCC) have not been elucidated to date. In our work, differentially expressed RBPs in pRCC were identified after acquisition of RNA-sequencing and clinical data related to pRCC from The Cancer Genome Atlas database(TCGA). Functional enrichment analysis and protein interaction network analysis, along with univariate and multivariate Cox regression analyses, were performed to uncover potential biological effects of the identified RBPs and screen the hub RBPs for pRCC prognosis. We identified 251 up-regulated and 129 down-regulated RBPs, and filtered out seven hub RBPs, namely, SRSF8, CD3EAP, HBS1L, ELAC2, MRPL34, NOP2 and IGF2BP2, for their prognostic relevance. A prognostic risk score model for overall survival of pRCC patients was constructed based on the seven hub RBPs. Further analysis showed that the low-risk group had higher survival rate than the high-risk group in both training and validation cohorts. The predictive accuracy was verified in the Human Protein Atlas database.In addition, we introduced the GSE15641 dataset from the Gene Expression Omnibus (GEO) database for independent external validation, and confirmed the expression levels of HBS1L, MRPL34 and IGF2BP2 through real-time quantitative PCR (RT-qPCR) and Western blotting (WB) using human renal tubular epithelial cell line HK-2 and human papillary renal cell carcinoma cell line Caki-2. In pRCC, CD3EAP was significantly elevated, while ELAC2, IGF2BP2, MRPL34, SRSF8 and HBS1L were significantly reduced. There was no significant difference between tumor and normal tissues in NOP2 expression. Risk score and tumor grade were independent prognostic factors associated with overall survival. In addition, we established a nomogram based on the seven prognostic RBPs to help predict overall survival at 1-3 years. In conclusion, seven differentially expressed hub RBPs were identified as potential prognostic biomarkers for pRCC. Our prognostic model might serve as a support for better treatment decision-making. Our work could provide potential new ideas for diagnosis and research on targeted drugs for pRCC. - Source: PubMed
Publication date: 2026/06/19
Niu TianLi QicongZhang Ao