Description
Product Characteristics: Analysis of cDNA clones indicates that ribosome binding protein 1 may exist in different forms due to removal of tandem repeats, or partial intraexonic splicing of RRBP1. The form presented here is lacking the canine p180 ribosome-binding domain, NQGKKAEGAQ, which is tandemly repeated close to the N-terminus in other forms that haven't been fully characterized. RRBP1 has been excluded as a candidate gene in the cause of Alagille syndrome. Alternate splicing results in multiple transcript variants.
Target Information: 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]