靶标:
RRBP1
产品别名:
ES/130; ES130; RRp; hES; p180; RRBP1; ribosome binding protein 1; ribosome binding protein 1; ribosome-binding protein 1; 180 kDa ribosome receptor homolog; ES/130-related protein; endoplasmic reticulum ribosome-binding protein 1; ribosomal receptor-binding protein 1; ribosome binding protein 1 homolog 180kDa (dog); ribosome receptor protein; 核糖体结合蛋白1;
背景信息:
This gene encodes a ribosome-binding protein of the endoplasmic reticulum (ER) membrane. Studies suggest that this gene plays a role in ER proliferation, secretory pathways and secretory cell differentiation, and mediation of ER-microtubule interactions. Alternative splicing has been observed and protein isoforms are characterized by regions of N-terminal decapeptide and C-terminal heptad repeats. Splicing of the tandem repeats results in variations in ribosome-binding affinity and secretory function. The full-length nature of variants which differ in repeat length has not been determined. Pseudogenes of this gene have been identified on chromosomes 3 and 7, and RRBP1 has been excluded as a candidate gene in the cause of Alagille syndrome, the result of a mutation in a nearby gene on chromosome 20p12. [provided by RefSeq, Apr 2012],