UTP20 Small Subunit Processome Component
A key nucleolar protein involved in ribosomal RNA processing and ribosome biogenesis.
Gene Information Card
| Symbol | UTP20 |
|---|---|
| Full Name | UTP20 small subunit processome component |
| Gene Type | Protein coding |
| Chromosomal Location | 12q23.2 |
| NCBI Gene ID | 27340 ncbi.nlm.nih.gov/gene/27340 |
| Ensembl ID | ENSG00000120800 |
| UniProt ID | O75691 |
| OMIM ID | 611751 |
| HGNC ID | 17896 |
| Aliases | DRIM, UTP20, MGC138290, MGC138291 |
Description
UTP20 (UTP20 small subunit processome component) is a protein-coding gene that encodes a nucleolar protein essential for the early steps of ribosomal RNA (rRNA) processing and assembly of the small ribosomal subunit. It is a component of the small subunit (SSU) processome, a large ribonucleoprotein complex required for 18S rRNA maturation. UTP20 is involved in cell growth and proliferation, and its dysregulation has been implicated in cancer and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered ribosome biogenesis and cell proliferation; UTP20 overexpression or mutation may drive tumorigenesis. | COSMIC; NCBI Gene |
| Developmental disorders | Disruption of ribosome assembly can impair embryonic development; mutations in UTP20 are associated with neurodevelopmental phenotypes. | OMIM; ClinVar |
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 | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.5 | High expression in embryonic kidney cells |
| HeLa | 12.3 | Moderate expression in cervical cancer cells |
| K562 | 10.7 | Moderate expression in leukemia cells |
| HepG2 | 9.2 | Low expression in liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; predicted to cause nonsense-mediated decay |
| c.5678A>G (p.Asn1893Ser) | Missense | 0.2% | Unknown; possibly damaging (PolyPhen-2 prediction) |
| c.9012_9013insA | Frameshift | <0.1% | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in UTP20 are predicted to result in loss of function, impairing rRNA processing and ribosome biogenesis.
Gain of Function (GOF)
No gain-of-function mutations have been reported for UTP20.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for UTP20.
View complete mutation data：
Gene Ontology (GO)
| • ribosome biogenesis | • rRNA processing |
| • nucleolus | • RNA binding |
| • protein binding | • small subunit processome |
Pathways
• Ribosome biogenesis in eukaryotes
• rRNA processing in the nucleus and cytosol
Protein Summary
UTP20 is a 2,782-amino acid nucleolar protein that localizes to the dense fibrillar component of the nucleolus. It contains multiple WD40 repeats and is a core component of the SSU processome. UTP20 interacts with other processome factors and RNA helicases to facilitate the cleavage of pre-rRNA at sites A0, A1, and A2, leading to 18S rRNA maturation. Its expression is cell-cycle regulated and highest in proliferating cells.
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