NOLC1
Nucleolar and coiled-body phosphoprotein 1
Gene Information Card
| Symbol | NOLC1 |
|---|---|
| Full Name | nucleolar and coiled-body phosphoprotein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q24.32 |
| NCBI Gene ID | 9221 ncbi.nlm.nih.gov/gene/9221 |
| Ensembl ID | ENSG00000166197 |
| UniProt ID | Q14978 |
| OMIM ID | 602891 |
| HGNC ID | 7867 |
| Aliases | NOPP130, NOPP140, P130, NS5ATP13 |
Description
NOLC1 encodes a nucleolar phosphoprotein that localizes to the nucleolus and coiled bodies. It is involved in RNA polymerase I transcription, pre-rRNA processing, and ribosome biogenesis. The protein shuttles between the nucleus and cytoplasm and interacts with several transcription factors and RNA processing factors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Overexpression of NOLC1 promotes cell proliferation and tumor growth | COSMIC, PubMed |
| Colorectal cancer | Upregulation associated with poor prognosis and metastasis | COSMIC, PubMed |
| Breast cancer | Increased expression linked to aggressive subtypes | COSMIC, PubMed |
| Gastric cancer | NOLC1 overexpression correlates with advanced stage | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.5 | High |
| Lymph node | 25.3 | High |
| Bone marrow | 22.1 | High |
| Spleen | 18.7 | Medium |
| Liver | 12.4 | Medium |
| Brain | 6.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 45.2 | Cervical cancer cell line |
| K562 | 38.9 | Leukemia cell line |
| A549 | 30.1 | Lung cancer cell line |
| HepG2 | 28.7 | Liver cancer cell line |
| MCF7 | 22.5 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1246G>A (p.Gly416Arg) | Missense | 0.02% | Unknown functional impact |
| c.1873C>T (p.Arg625Trp) | Missense | 0.01% | Unknown functional impact |
| c.2110_2111insA (p.Thr704Asnfs*3) | Frameshift | 0.005% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Thr704Asnfs*3) are predicted to cause loss of function due to premature truncation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • nucleolus | • coiled body |
| • RNA binding | • protein binding |
| • ribosome biogenesis | • rRNA processing |
| • nucleocytoplasmic shuttling |
Pathways
• RNA polymerase I transcription
• rRNA processing in the nucleus and cytosol
• ribosome biogenesis
Protein Summary
NOLC1 is a 699-amino-acid nucleolar phosphoprotein with multiple phosphorylation sites. It contains a serine-rich region and a nuclear localization signal. The protein interacts with RNA polymerase I, topoisomerase I, and several small nucleolar RNAs. It plays a key role in maintaining nucleolar structure and function.
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