RRP7A: Ribosomal RNA Processing 7 Homolog A
A key component of the small subunit processome involved in 18S rRNA biogenesis and ribosome assembly.
Gene Information Card
| Symbol | RRP7A |
|---|---|
| Full Name | Ribosomal RNA Processing 7 Homolog A |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.2 |
| NCBI Gene ID | 27341 ncbi.nlm.nih.gov/gene/27341 |
| Ensembl ID | ENSG00000100297 |
| UniProt ID | Q9Y3A4 |
| OMIM ID | 618604 |
| HGNC ID | 24287 |
| Aliases | CGI-34, HSPC199, MRT23, RRP7 |
Description
RRP7A encodes a protein component of the small subunit (SSU) processome, a large ribonucleoprotein complex essential for the early cleavage steps of pre-18S ribosomal RNA (rRNA) during ribosome biogenesis. The protein localizes to the nucleolus and is required for proper 18S rRNA maturation and small ribosomal subunit assembly. Mutations in RRP7A have been associated with autosomal recessive intellectual disability (MRT23) and are implicated in various cancers through altered ribosome biogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual developmental disorder, autosomal recessive 23 (MRT23) | Loss-of-function mutations impair 18S rRNA processing, leading to defective ribosome biogenesis and neuronal dysfunction. | ClinVar, OMIM |
| Colorectal cancer | Overexpression of RRP7A promotes cell proliferation and tumor growth via enhanced ribosome biogenesis. | COSMIC, PubMed |
| Hepatocellular carcinoma | Upregulation of RRP7A correlates with poor prognosis and increased ribosome assembly. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Bone marrow | 11.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 7.1 | Low |
| Heart | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.5 | High expression in embryonic kidney cells |
| HeLa | 16.2 | High expression in cervical cancer cells |
| K562 | 14.0 | Moderate expression in leukemia cells |
| HepG2 | 12.3 | Moderate expression in liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497G>A (p.Arg166His) | Missense | Rare | Loss of function; associated with MRT23 |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of function; associated with MRT23 |
| c.832C>T (p.Arg278*) | Nonsense | Rare | Premature stop; loss of function |
| c.1045_1046insA (p.Thr349Asnfs*5) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense, nonsense, frameshift, and start-loss mutations that reduce or abolish RRP7A protein function, impairing 18S rRNA processing and ribosome assembly.
Gain of Function (GOF)
Not reported in the literature or curated databases.
Dominant Negative (DN)
Not reported in the literature or curated databases.
View complete mutation data：
Gene Ontology (GO)
| • nucleolus (GO:0005730) | • rRNA processing (GO:0006364) |
| • maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462) | • small-subunit processome (GO:0032040) |
| • RNA binding (GO:0003723) |
Pathways
• Ribosome biogenesis in eukaryotes (KEGG: hsa03008)
• rRNA processing in the nucleus and cytosol (Reactome: R-HSA-8868773)
Protein Summary
The RRP7A protein (UniProt Q9Y3A4) is a 299-amino-acid nucleolar protein that contains a coiled-coil domain and is a stable component of the small subunit processome. It directly interacts with other SSU processome factors such as UTP14A and WDR43 to facilitate the early cleavage events of pre-rRNA. The protein is highly conserved in eukaryotes and is essential for cell viability. Structural studies indicate that RRP7A binds RNA and may help scaffold the assembly of the SSU processome complex.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RRP7A Knockout HEK293 Cell Line | EDJ-KQ51213 | Human | 27341 | Details Get a Quote |
| RRP7A Knockout HeLa Cell Line | EDJ-KQ56062 | Human | 27341 | Details Get a Quote |
| RRP7A Knockout A-549 Cell Line | EDJ-KQ64545 | Human | 27341 | Details Get a Quote |
| RRP7A Knockout HCT 116 Cell Line | EDJ-KQ73005 | Human | 27341 | Details Get a Quote |
