UTP14C
U3 Small Nucleolar RNA-Associated Protein 14 Homolog C
Gene Information Card
| Symbol | UTP14C |
|---|---|
| Full Name | U3 Small Nucleolar RNA-Associated Protein 14 Homolog C |
| Gene Type | Protein coding |
| Chromosomal Location | 13q14.11 |
| NCBI Gene ID | 9724 ncbi.nlm.nih.gov/gene/9724 |
| Ensembl ID | ENSG00000139618 |
| UniProt ID | Q5TAP6 |
| OMIM ID | 300510 |
| HGNC ID | 12615 |
| Aliases | UTP14C, NY-REN-39, UTP14C |
Description
UTP14C encodes a protein that is a component of the small subunit (SSU) processome, a complex involved in the biogenesis of the 18S rRNA and the assembly of the small ribosomal subunit. The protein localizes to the nucleolus and is essential for pre-rRNA processing. UTP14C is a paralog of UTP14A and UTP14B, with a role in ribosome biogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | N/A | No curated evidence in OMIM, ClinVar, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Lymph node | 6.1 | Low |
| Spleen | 5.4 | Low |
| Brain | 3.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Moderate expression |
| HEK293 | 12.8 | Moderate expression |
| K562 | 9.7 | Low expression |
| HepG2 | 7.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants curated | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
Not characterized
Gain of Function (GOF)
Not characterized
Dominant Negative (DN)
Not characterized
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 (Reactome: R-HSA-6791226)
• Major pathway of rRNA processing in the nucleolus and cytosol (Reactome: R-HSA-6791226)
Protein Summary
UTP14C is a 777-amino acid nucleolar protein (UniProt Q5TAP6) that functions as a component of the SSU processome. It is involved in the early cleavage steps of pre-18S rRNA. The protein contains a UTP14 domain and is conserved across eukaryotes. Its expression is highest in testis and certain cancer cell lines.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UTP14C Knockout HEK293 Cell Line | EDJ-KQ50900 | Human | 9724 | Details Get a Quote |
| UTP14C Knockout HeLa Cell Line | EDJ-KQ55239 | Human | 9724 | Details Get a Quote |
| UTP14C Knockout A-549 Cell Line | EDJ-KQ63719 | Human | 9724 | Details Get a Quote |
| UTP14C Knockout HCT 116 Cell Line | EDJ-KQ72180 | Human | 9724 | Details Get a Quote |
