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B001/B101
Shirley, MA 01464
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20700 44th Avenue W
Lynnwood, WA 98036
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RRBP1 / hES
ribosome binding protein 1
RRBP1 / hES is 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.
| Gene Name: | ribosome binding protein 1 |
| Synonyms: | RRBP1, ES/130, ES/130-related protein, KIAA1398, Ribosome binding protein 1, Ribosome receptor protein, Ribosome-binding protein 1, RRP, ES130, HES |
| Target Sequences: | NM_004587 NP_004578.2 Q9P2E9 |
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