UTP23
Small subunit processome component UTP23
Gene Information Card
| Symbol | UTP23 |
|---|---|
| Full Name | UTP23 small subunit processome component |
| Gene Type | protein-coding |
| Chromosomal Location | 8q24.11 |
| NCBI Gene ID | 84294 ncbi.nlm.nih.gov/gene/84294 |
| Ensembl ID | ENSG00000147419 |
| UniProt ID | Q9BRU2 |
| OMIM ID | 617808 |
| HGNC ID | 26119 |
| Aliases | UTP23, C8orf31, HSPC268, MGC13125 |
Description
UTP23 is a protein-coding gene that encodes a component of the small subunit (SSU) processome, a large ribonucleoprotein complex involved in the early steps of 18S rRNA processing and ribosome biogenesis. The protein localizes to the nucleolus and is essential for cell growth and proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not applicable | Not applicable |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Bone marrow | 9.8 | Medium |
| Spleen | 8.5 | Medium |
| Brain | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HeLa | 12.0 | High expression |
| K562 | 10.5 | Medium expression |
| HepG2 | 9.0 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.1% | Unknown effect |
| c.100C>T | missense | <0.1% | Unknown effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
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)
| • nucleolus (GO:0005730) | • rRNA processing (GO:0006364) |
| • small-subunit processome (GO:0032040) | • protein binding (GO:0005515) |
Pathways
• Ribosome biogenesis in eukaryotes (KEGG: hsa03008)
Protein Summary
The UTP23 protein is 222 amino acids long and contains a conserved UTP23 domain. It is a component of the SSU processome, which is required for the cleavage of pre-rRNA at the A0, A1, and A2 sites during 18S rRNA maturation. The protein interacts with other processome components and is essential for nucleolar integrity.
Related Services
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| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
