RPRD1B Gene - Regulation of Nuclear Pre-mRNA Domain Containing 1B
A comprehensive resource on RPRD1B, including genomic annotations, expression, mutations, and disease associations.
Gene Information Card
| Symbol | RPRD1B |
|---|---|
| Full Name | Regulation of Nuclear Pre-mRNA Domain Containing 1B |
| Gene Type | Protein coding |
| Chromosomal Location | 20q11.23 |
| NCBI Gene ID | 58490 ncbi.nlm.nih.gov/gene/58490 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9NQG5 |
| OMIM ID | 611789 |
| HGNC ID | 25950 |
| Aliases | CREB2BP, CREB/ATF bZIP transcription factor binding protein, RPRD1B |
Description
RPRD1B (Regulation of Nuclear Pre-mRNA Domain Containing 1B) is a protein-coding gene located on chromosome 20q11.23. It encodes a protein that interacts with RNA polymerase II and is involved in transcription elongation, pre-mRNA processing, and cell cycle regulation. RPRD1B is also known as CREB2BP due to its interaction with CREB/ATF transcription factors. The gene is implicated in several cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Overexpression promotes cell proliferation and invasion via Wnt/β-catenin signaling | PMID: 25605247 |
| Breast Cancer | RPRD1B amplification correlates with poor prognosis and tamoxifen resistance | PMID: 28476882 |
| Hepatocellular Carcinoma | Upregulation associated with tumor growth and metastasis | PMID: 29367642 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 10.8 | Medium |
| Bone marrow | 9.5 | Low |
| Brain | 6.3 | Low |
| Liver | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.4 | Cervical adenocarcinoma |
| HEK 293 | 11.0 | Embryonic kidney |
| MCF7 | 9.8 | Breast cancer |
| HepG2 | 8.5 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown significance |
| c.457G>A (p.Glu153Lys) | Missense | <0.01% | Unknown significance |
| c.784_785insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.784_785insA) are predicted to cause premature truncation and loss of protein function.
Gain of Function (GOF)
Not well characterized; overexpression in cancer suggests potential gain-of-function role.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • rRNA processing (GO:0006364) | • transcription elongation from RNA polymerase II promoter (GO:0006368) |
| • cadherin binding (GO:0045296) |
Pathways
• RNA polymerase II transcription elongation
• Wnt signaling pathway (via β-catenin)
• Cell cycle regulation
Protein Summary
The RPRD1B protein (UniProt Q9NQG5) is a 328-amino acid nuclear protein containing a coiled-coil domain and a C-terminal domain that interacts with RNA polymerase II. It functions in transcription elongation and pre-mRNA processing. The protein also binds CREB/ATF transcription factors, modulating cAMP-responsive gene expression. Overexpression in various cancers suggests a role in tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPRD1B Knockout HEK293 Cell Line | EDJ-KQ51596 | Human | 58490 | Details Get a Quote |
| RPRD1B Knockout HeLa Cell Line | EDJ-KQ56938 | Human | 58490 | Details Get a Quote |
| RPRD1B Knockout A-549 Cell Line | EDJ-KQ65444 | Human | 58490 | Details Get a Quote |
| RPRD1B Knockout HCT 116 Cell Line | EDJ-KQ73881 | Human | 58490 | Details Get a Quote |
