RPRD1A Gene - Regulation of Nuclear Pre-mRNA Domain Containing 1A
A comprehensive resource for RPRD1A gene information, including genomic data, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | RPRD1A |
|---|---|
| Full Name | Regulation of Nuclear Pre-mRNA Domain Containing 1A |
| Gene Type | Protein coding |
| Chromosomal Location | 18q12.1 |
| NCBI Gene ID | 58497 ncbi.nlm.nih.gov/gene/58497 |
| Ensembl ID | ENSG00000134371 |
| UniProt ID | Q96P16 |
| OMIM ID | 617423 |
| HGNC ID | 29029 |
| Aliases | CREB-2, CREB2, RPRD1A, FLJ20032 |
Description
RPRD1A (Regulation of Nuclear Pre-mRNA Domain Containing 1A) is a protein-coding gene that encodes a component of the RNA polymerase II (Pol II) complex. The protein contains a conserved RPRD domain and is involved in transcription elongation, pre-mRNA processing, and the regulation of Pol II pausing. It interacts with cyclin-dependent kinases and other transcription factors to modulate gene expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered expression of RPRD1A may affect transcription of oncogenes or tumor suppressors | COSMIC; PMID: 23535729 |
| Breast cancer | RPRD1A overexpression correlates with poor prognosis; potential role in cell proliferation | COSMIC; PMID: 27397505 |
| Lung cancer | Somatic mutations and copy number alterations observed | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 15.1 | Medium |
| Kidney | 10.2 | Medium |
| Testis | 20.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.5 | Embryonic kidney cells |
| HeLa | 22.3 | Cervical cancer cells |
| A549 | 14.7 | Lung cancer cells |
| MCF7 | 16.2 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Arg121Trp | Missense | <0.01% | Unknown; predicted possibly damaging |
| p.Glu204Lys | Missense | <0.01% | Unknown; predicted benign |
| c.456+1G>A | Splice donor | <0.01% | Likely splice disruption |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• RNA polymerase II transcription elongation
• Processing of capped intron-containing pre-mRNA
Protein Summary
The RPRD1A protein (UniProt Q96P16) is 778 amino acids long and contains an N-terminal RPRD domain. It localizes to the nucleus and interacts with RNA polymerase II, cyclin T1, and other transcription elongation factors. It is involved in the regulation of Pol II pausing and release, thereby influencing gene expression. The protein is ubiquitously expressed with higher levels in testis and certain cancer cell lines.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPRD1A Knockout HEK293 Cell Line | EDJ-KQ15123 | Human | 55197 | Details Get a Quote |
| RPRD1A Knockout HeLa Cell Line | EDJ-KQ44478 | Human | 55197 | Details Get a Quote |
| RPRD1A Knockout A-549 Cell Line | EDJ-KQ45717 | Human | 55197 | Details Get a Quote |
| RPRD1A Knockout HCT 116 Cell Line | EDJ-KQ45718 | Human | 55197 | Details Get a Quote |
