NOP14
NOP14 ribosome biogenesis factor
Gene Information Card
| Symbol | NOP14 |
|---|---|
| Full Name | NOP14 ribosome biogenesis factor |
| Gene Type | Protein coding |
| Chromosomal Location | 4p16.3 |
| NCBI Gene ID | 8602 ncbi.nlm.nih.gov/gene/8602 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q9H8Y8 |
| OMIM ID | 611551 |
| HGNC ID | 16823 |
| Aliases | NOL14, NOP14L, MGC13125 |
Description
NOP14 encodes a nucleolar protein involved in ribosome biogenesis, specifically in the processing of pre-18S ribosomal RNA and assembly of the small ribosomal subunit. It is conserved across eukaryotes and localizes to the nucleolus. The protein interacts with other ribosome assembly factors and is essential for cell proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | NOP14 overexpression may promote ribosomal RNA processing and cell growth; altered expression observed in tumor tissues. | NCBI Gene, COSMIC |
| Breast cancer | Upregulation of NOP14 associated with poor prognosis; potential role in ribosome biogenesis-driven proliferation. | COSMIC, ClinVar |
| Developmental disorders | Rare variants in NOP14 reported in patients with intellectual disability and microcephaly; functional studies suggest impaired ribosome biogenesis. | ClinVar, OMIM |
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 |
|---|---|---|
| HeLa | 14.5 | Cervical cancer cell line |
| HEK293 | 13.2 | Embryonic kidney cell line |
| K562 | 11.8 | Leukemia cell line |
| MCF7 | 10.4 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Potential loss of function; reported in ClinVar |
| c.245C>T | Nonsense | <0.01% | Premature stop; likely loss of function |
| c.678G>A | Missense | 0.02% | Unknown significance; COSMIC |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants in NOP14 are predicted to cause loss of function, impairing ribosome biogenesis and cell growth.
Gain of Function (GOF)
No gain-of-function mutations have been reported for NOP14.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for NOP14.
View complete mutation data：
Gene Ontology (GO)
| • ribosome biogenesis | • nucleolus |
| • RNA binding | • preribosome |
| • small subunit precursor | • maturation of SSU-rRNA |
Pathways
• Ribosome biogenesis in eukaryotes
• rRNA processing in the nucleus and cytosol
Protein Summary
NOP14 is a 738-amino acid nucleolar protein that functions as a ribosome biogenesis factor. It is essential for the processing of 18S rRNA and assembly of the small ribosomal subunit. The protein contains a conserved NOP14 domain and interacts with other ribosome assembly factors such as NOP58 and NHP2. Its expression is highest in testis and lymphoid tissues, and dysregulation is linked to cancer and developmental disorders.
Related Services
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