RRN3
RRN3 homolog, transcription initiation factor for RNA polymerase I
Gene Information Card
| Symbol | RRN3 |
|---|---|
| Full Name | RRN3 homolog, transcription initiation factor for RNA polymerase I |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.11 |
| NCBI Gene ID | 54700 ncbi.nlm.nih.gov/gene/54700 |
| Ensembl ID | ENSG00000103168 |
| UniProt ID | Q9NYV6 |
| OMIM ID | 617623 |
| HGNC ID | 17029 |
| Aliases | RRN3, TIF-IA, RRN3 homolog |
Description
RRN3 encodes a transcription initiation factor that is essential for RNA polymerase I (Pol I)-dependent transcription of ribosomal RNA genes. The protein directly interacts with Pol I and is required for promoter-specific transcription initiation. RRN3 activity is regulated by phosphorylation and is critical for ribosome biogenesis and cell growth.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | RRN3 overexpression or dysregulation may enhance Pol I transcription and ribosome biogenesis, promoting cell proliferation. | PMID: 23431136; COSMIC |
| Treacher Collins syndrome (related) | Disruption of Pol I transcription machinery, including RRN3, can impair ribosome biogenesis and neural crest cell development. | PMID: 21529712 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 9.8 | Medium |
| Brain | 7.2 | Low |
| Liver | 6.5 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.3 | High expression |
| HeLa | 11.2 | Medium expression |
| K562 | 9.0 | Medium expression |
| A549 | 7.8 | Low expression |
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 functional impact |
| c.455G>A (p.Arg152Gln) | Missense | <0.01% | Unknown functional impact |
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 confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • transcription initiation from RNA polymerase I promoter (GO:0006361) | • RNA polymerase I preinitiation complex assembly (GO:0001185) |
| • nucleolus (GO:0005730) | • protein binding (GO:0005515) |
Pathways
• RNA polymerase I transcription initiation (Reactome: R-HSA-73728)
• Ribosome biogenesis (Reactome: R-HSA-6791226)
Protein Summary
RRN3 (TIF-IA) is a 72 kDa protein that shuttles between the nucleolus and cytoplasm. It binds directly to RNA polymerase I and is required for the formation of the preinitiation complex on ribosomal DNA promoters. Phosphorylation by kinases such as CDK2 and ERK regulates its activity and stability, linking ribosome production to growth signals.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LRRN3 Knockout HEK293 Cell Line | EDJ-KQ11481 | Human | 54674 | Details Get a Quote |
| RRN3 Knockout HEK293 Cell Line | EDJ-KQ51386 | Human | 54700 | Details Get a Quote |
| LRRN3 Knockout HeLa Cell Line | EDJ-KQ56456 | Human | 54674 | Details Get a Quote |
| RRN3 Knockout HeLa Cell Line | EDJ-KQ56457 | Human | 54700 | Details Get a Quote |
| LRRN3 Knockout A-549 Cell Line | EDJ-KQ64949 | Human | 54674 | Details Get a Quote |
| RRN3 Knockout A-549 Cell Line | EDJ-KQ64950 | Human | 54700 | Details Get a Quote |
| LRRN3 Knockout HCT 116 Cell Line | EDJ-KQ73392 | Human | 54674 | Details Get a Quote |
| RRN3 Knockout HCT 116 Cell Line | EDJ-KQ73395 | Human | 54700 | Details Get a Quote |
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