UTP15: U3 Small Nucleolar RNA-Associated Protein 15 Homolog
A key component of the small subunit processome involved in ribosome biogenesis and linked to neurodevelopmental disorders.
Gene Information Card
| Symbol | UTP15 |
|---|---|
| Full Name | UTP15 small subunit processome component |
| Gene Type | Protein coding |
| Chromosomal Location | 5q13.2 |
| NCBI Gene ID | 84136 ncbi.nlm.nih.gov/gene/84136 |
| Ensembl ID | ENSG00000164318 |
| UniProt ID | Q8TED0 |
| OMIM ID | 617904 |
| HGNC ID | 25767 |
| Aliases | NET21, UTP15 homolog |
Description
UTP15 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 and the assembly of the small ribosomal subunit. The protein localizes to the nucleolus and is required for efficient ribosome biogenesis. Mutations in UTP15 have been associated with neurodevelopmental disorders, including intellectual disability and microcephaly.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly and intellectual disability | Loss-of-function mutations in UTP15 impair ribosome biogenesis, leading to reduced cell proliferation and brain development deficits. | OMIM #617904; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 10.2 | Medium |
| Brain (cortex) | 9.8 | Medium |
| Heart | 8.1 | Medium |
| Liver | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.5 | High expression |
| HeLa | 12.0 | High expression |
| K562 | 9.2 | Medium expression |
| HepG2 | 7.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense/Start loss | Rare | Loss of protein function |
| c.802C>T (p.Arg268*) | Nonsense | Rare | Premature truncation, loss of function |
| c.1045G>A (p.Gly349Arg) | Missense | Rare | Likely damaging, reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent UTP15 protein, impairing SSU processome assembly and ribosome biogenesis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • nucleolus (GO:0005730) | • rRNA processing (GO:0006364) |
| • small-subunit processome (GO:0032040) | • maturation of SSU-rRNA from tricistronic rRNA transcript (GO:0000462) |
Pathways
• Ribosome biogenesis in eukaryotes (KEGG: hsa03008)
• rRNA processing in the nucleus and cytosol (Reactome: R-HSA-8868773)
Protein Summary
UTP15 is a 777-amino acid nucleolar protein that contains a UTP15-specific domain and is highly conserved across eukaryotes. It interacts with other SSU processome components such as UTP4, UTP5, and UTP18 to facilitate the cleavage of the pre-rRNA transcript at sites A0, A1, and A2. The protein is essential for cell proliferation and is particularly important in rapidly dividing cells, including neural progenitors during brain development.
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