2024年12月25日 · HBS1L (HBS1 Like Translational GTPase) is a Protein Coding gene. Diseases associated with HBS1L include Bladder Diverticulum and Beta-Thalassemia. Among its related pathways are Deadenylation-dependent mRNA decay and Processing of Capped Intron-Containing Pre-mRNA.

2025年2月8日 · HBS1L-related genetic variants play a key role in control of fetal hemoglobin levels. 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.

该基因与 MYB 基因的基因间区域已被鉴定为控制胎儿血红蛋白水平的数量性状位点 (QTL) ，该区域影响红细胞、血小板和单核细胞计数以及红细胞体积和血红蛋白含量。 该区域的 DNA 多态性与胎儿血红蛋白水平和镰状细胞病的疼痛危象有关。 该基因外显子 1 中的单核苷酸多态性与 β-地中海贫血/血红蛋白 E 的严重程度显着相关。 已发现该基因编码不同蛋白质亚型的多个可变剪接转录物变体。 [RefSeq 提供，2009 年 5 月] This gene encodes a member of the GTP-binding …

We recently reported a novel human phenotype resulting from a mutation in the critical coding region of the HBS1L gene characterized by facial dysmorphism, severe growth restriction, axial hypotonia, global developmental delay and retinal pigmentary deposits. Here we further characterize downstream effects of the human HBS1L mutation.

hbs1l 又名erfs、ef-1a，是酿酒酵母和原核 细胞hbs1 基因的人类同源物，进化上与真核细胞 终止因子erf3 相近，但是未发现erf3 活性[4]。酵 母hbs1 参与了mrna 上停滞的核糖体的识别和释 放，但还未发现hbs1l 具有此功能，但有研究者 推测hbs1l 可以通过将hbg2 (γg)的mrna 招募

HBS1L is a prognostic marker in Breast invasive carcinoma, Kidney renal clear cell carcinoma

2025年2月8日 · Title: A short splicing isoform of HBS1L links the cytoplasmic exosome and SKI complexes in humans. genome-wide association analyses identified a new genome-wide significant locus on the HBS1L-MYB intergenic region for platelet-to-lymphocyte ratio

这个基因和MYB基因的基因间区已经被鉴定为控制胎儿血红蛋白水平的数量性状位点（QTL），这个区域影响红细胞、血小板和单核细胞计数以及红细胞体积和血红蛋白含量。 这个区域的DNA多态性与胎儿血红蛋白水平和镰状细胞病患者的疼痛危机相关。 这个基因的外显子1中的一个单核苷酸多态性与β地中海贫血/血红蛋白E的严重程度显著相关。 已经发现这个基因的多个可变剪接转录变异体，编码不同的蛋白质异构体。 [由RefSeq提供，2009年5月] ... 该基因暂未发现相关的转 …

Genetic studies have identified common variants within the intergenic region (HBS1L-MYB) between GTP-binding elongation factor HBS1L and myeloblastosis oncogene MYB on chromosome 6q that are associated with elevated fetal hemoglobin (HbF) levels and alterations of other clinically important human er …

Description: Homo sapiens HBS1 like translational GTPase (HBS1L), transcript variant 1, mRNA. (from RefSeq NM_006620) RefSeq Summary (NM_006620): 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.