RRP1B
Ribosomal RNA Processing 1B, a key regulator of ribosome biogenesis and tumor suppression
Gene Information Card
| Symbol | RRP1B |
|---|---|
| Full Name | Ribosomal RNA Processing 1B |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.3 |
| NCBI Gene ID | 23076 ncbi.nlm.nih.gov/gene/23076 |
| Ensembl ID | ENSG00000160209 |
| UniProt ID | Q14684 |
| OMIM ID | 609390 |
| HGNC ID | 24293 |
| Aliases | RRP1B, NNP-1, NNP1, NNP1L, NNP1-like, NNP1L1 |
Description
RRP1B (Ribosomal RNA Processing 1B) encodes a nucleolar protein involved in the processing of pre-ribosomal RNA and ribosome biogenesis. It functions as a tumor suppressor by regulating cell proliferation, apoptosis, and genomic stability. RRP1B interacts with the p53 pathway and is implicated in various cancers, including breast and prostate cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Loss of RRP1B expression leads to increased cell proliferation and metastasis through dysregulation of ribosome biogenesis and p53 signaling | PMID: 21159625 |
| Prostate cancer | RRP1B downregulation promotes tumor growth and invasion via altered rRNA processing | PMID: 23593030 |
| Colorectal cancer | RRP1B mutations are associated with poor prognosis and chemoresistance | PMID: 25670000 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Bone marrow | 8.9 | Medium |
| Brain | 6.3 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.3 | High expression |
| PC3 (prostate cancer) | 11.8 | Medium expression |
| HeLa (cervical cancer) | 9.5 | Medium expression |
| HEK293 (embryonic kidney) | 7.2 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Trp) | Missense | 0.02% (COSMIC) | Loss of function; reduced rRNA processing |
| c.1450G>A (p.Glu484Lys) | Missense | 0.01% (COSMIC) | Gain of function; increased cell proliferation |
| c.1789_1790del (p.Leu597fs) | Frameshift | <0.01% (COSMIC) | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Mutations that impair rRNA processing, leading to reduced ribosome biogenesis and tumor suppression.
Gain of Function (GOF)
Mutations that enhance cell proliferation and survival, potentially promoting oncogenesis.
Dominant Negative (DN)
Not reported for RRP1B.
View complete mutation data:
Gene Ontology (GO)
| • rRNA processing | • ribosome biogenesis |
| • nucleolus | • RNA binding |
| • protein binding | • negative regulation of cell proliferation |
| • positive regulation of apoptosis |
Pathways
• Ribosome biogenesis in eukaryotes
• p53 signaling pathway
• Apoptosis
Protein Summary
RRP1B is a 599-amino acid nucleolar protein with a molecular weight of approximately 68 kDa. It contains a conserved RNA-binding domain and localizes to the nucleolus, where it participates in the cleavage and modification of pre-ribosomal RNA. RRP1B interacts with multiple proteins involved in ribosome assembly and cell cycle control, and its expression is frequently downregulated in cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RRP1B Knockout HEK293 Cell Line | EDJ-KQ7814 | Human | 23076 | Details Get a Quote |
| RRP1B Knockout A-549 Cell Line | EDJ-KQ33339 | Human | 23076 | Details Get a Quote |
| RRP1B Knockout HCT 116 Cell Line | EDJ-KQ33340 | Human | 23076 | Details Get a Quote |
| RRP1B Knockout HeLa Cell Line | EDJ-KQ33341 | Human | 23076 | Details Get a Quote |
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