UTP4 Small Subunit Processome Component
Essential nucleolar protein involved in ribosomal RNA processing and small subunit (SSU) processome assembly
Gene Information Card
| Symbol | UTP4 |
|---|---|
| Full Name | UTP4 small subunit processome component |
| Gene Type | protein-coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 84916 ncbi.nlm.nih.gov/gene/84916 |
| Ensembl ID | ENSG00000140987 |
| UniProt ID | Q969X6 |
| OMIM ID | 611748 |
| HGNC ID | HGNC:25700 |
| Aliases | C16orf40, FLJ11193, UTP4a, UTP4b |
Description
UTP4 encodes a nucleolar protein that is a component of the small subunit (SSU) processome, a large ribonucleoprotein complex required for the early cleavage steps of pre-18S ribosomal RNA (rRNA) processing. The protein is essential for ribosome biogenesis and cell proliferation. UTP4 interacts with other SSU processome factors and RNA helicases to facilitate proper maturation of the 40S ribosomal subunit.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease association in OMIM or ClinVar | Not established | No evidence |
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 | 6.3 | Low |
| Liver | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.2 | Embryonic kidney cell line |
| K562 | 11.0 | Leukemia cell line |
| HeLa | 9.5 | Cervical carcinoma cell line |
| HepG2 | 7.8 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown significance |
| c.200_201insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss mutations are predicted to cause loss of function, impairing 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) | • nucleus (GO:0005634) |
| • rRNA processing (GO:0006364) | • small-subunit processome (GO:0032040) |
| • maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462) |
Pathways
• Ribosome biogenesis (Reactome: R-HSA-6791226)
• rRNA processing in the nucleus and cytosol (Reactome: R-HSA-8868773)
Protein Summary
UTP4 is a 777-amino-acid nucleolar protein with a molecular weight of approximately 87 kDa. It contains a coiled-coil domain and is highly conserved across eukaryotes. The protein localizes to the dense fibrillar component of the nucleolus and is required for the early cleavage events of pre-rRNA at sites A0, A1, and A2. UTP4 interacts with UTP5, UTP15, and other SSU processome components to form a stable complex essential for 40S ribosomal subunit assembly.
Related Services
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|---|---|---|---|---|
| No Data | ||||
