UTP6 Small Subunit Processome Component
A key factor in ribosome biogenesis and nucleolar function
Gene Information Card
| Symbol | UTP6 |
|---|---|
| Full Name | UTP6 small subunit processome component |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 55813 ncbi.nlm.nih.gov/gene/55813 |
| Ensembl ID | ENSG00000108654 |
| UniProt ID | Q9Y5K6 |
| OMIM ID | 617907 |
| HGNC ID | HGNC:26411 |
| Aliases | C17orf40, UTP6 homolog, UTP6 small subunit processome component |
Description
UTP6 encodes a component of the small subunit (SSU) processome, a large ribonucleoprotein complex essential for the early processing of pre-18S ribosomal RNA and assembly of the small ribosomal subunit. The protein localizes to the nucleolus and is involved in ribosome biogenesis, a process critical for cell growth and proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered ribosome biogenesis due to UTP6 dysregulation may promote uncontrolled cell proliferation. | COSMIC database reports somatic mutations in multiple cancer types. |
| Developmental disorders | Disruption of ribosome biogenesis can lead to nucleolar stress and impaired development. | ClinVar lists variants of uncertain significance in individuals with developmental phenotypes. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Bone marrow | 9.8 | Medium |
| Brain | 6.1 | Low |
| Liver | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.0 | Cervical cancer cell line |
| K562 | 12.3 | Leukemia cell line |
| HEK293 | 11.5 | Embryonic kidney cell line |
| MCF7 | 9.8 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338Trp) | Missense | <0.01% | Unknown; reported in COSMIC as somatic in colorectal cancer. |
| c.1456G>A (p.Glu486Lys) | Missense | <0.01% | Unknown; reported in COSMIC as somatic in lung cancer. |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; predicted to impair ribosome biogenesis if truncating or splice-site mutations occur.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not 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 (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462) |
Pathways
• Ribosome biogenesis in eukaryotes (Reactome: R-HSA-6791226)
• rRNA processing in the nucleus and cytosol (Reactome: R-HSA-8868773)
Protein Summary
UTP6 is a 546-amino acid protein with a molecular weight of approximately 62 kDa. It contains a coiled-coil domain and is predicted to interact with other SSU processome components. The protein is highly conserved in eukaryotes and is essential for the early cleavage steps of pre-rRNA.
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