NUCLEOLIN
Nucleolin, a multifunctional nucleolar phosphoprotein involved in ribosome biogenesis, cell proliferation, and stress response.
Gene Information Card
| Symbol | NCL |
|---|---|
| Full Name | Nucleolin |
| Gene Type | protein-coding |
| Chromosomal Location | 2q37.1 |
| NCBI Gene ID | 4691 ncbi.nlm.nih.gov/gene/4691 |
| Ensembl ID | ENSG00000115053 |
| UniProt ID | P19338 |
| OMIM ID | 164035 |
| HGNC ID | 7667 |
| Aliases | C23, NCL, nucleolin |
Description
Nucleolin (NCL) is a multifunctional nucleolar phosphoprotein encoded by the NCL gene located on chromosome 2q37.1. It plays essential roles in ribosome biogenesis, including pre-rRNA transcription, processing, and ribosome assembly. Additionally, nucleolin is involved in chromatin remodeling, DNA replication, cell cycle regulation, and stress response. It shuttles between the nucleolus, nucleus, and cytoplasm, and is overexpressed in many cancers, making it a potential biomarker and therapeutic target.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression and altered localization promote cell proliferation and survival | High expression in breast, lung, colorectal, and prostate cancers (COSMIC, PubMed) |
| Autoimmune diseases (e.g., systemic lupus erythematosus) | Nucleolin acts as an autoantigen; anti-nucleolin antibodies detected | OMIM #164035, ClinVar |
| Viral infections (e.g., HIV, influenza) | Nucleolin facilitates viral entry and replication | PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | High |
| Lymph node | 10.8 | High |
| Spleen | 9.2 | High |
| Testis | 8.7 | High |
| Brain | 4.1 | Medium |
| Liver | 3.5 | Medium |
| Heart | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical carcinoma) | 15.3 | High expression |
| MCF7 (breast cancer) | 14.1 | High expression |
| A549 (lung cancer) | 13.8 | High expression |
| HEK293 (embryonic kidney) | 11.2 | Moderate expression |
| K562 (leukemia) | 10.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% | Altered RNA binding; potential impact on ribosome biogenesis |
| c.567G>A (p.Gly189Ser) | Missense | <0.01% | Unknown functional effect |
| c.890_891insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.890_891insA) likely lead to truncated protein and loss of nucleolar function.
Gain of Function (GOF)
Not well documented; overexpression in cancer may act as a gain-of-function by promoting proliferation.
Dominant Negative (DN)
No known dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • nucleolus (GO:0005730) | • RNA binding (GO:0003723) |
| • rRNA processing (GO:0006364) | • ribosome biogenesis (GO:0042254) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
| • protein binding (GO:0005515) |
Pathways
• Ribosome biogenesis (Reactome: R-HSA-6791226)
• rRNA processing (Reactome: R-HSA-72312)
• Cell cycle (KEGG: hsa04110)
Protein Summary
Nucleolin is a 710-amino-acid protein (UniProt P19338) with an N-terminal acidic region, central RNA-binding domains, and a C-terminal glycine/arginine-rich domain. It is predominantly localized in the nucleolus but shuttles to the nucleus and cytoplasm. It binds to G-quadruplex structures in DNA and RNA, regulates transcription, and interacts with many proteins involved in cell growth and stress. Post-translational modifications include phosphorylation, methylation, and sumoylation, which modulate its functions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LANCL1 Knockout HEK293 Cell Line | EDJ-KQ7006 | Human | 10314 | Details Get a Quote |
| LANCL3 Knockout HEK293 Cell Line | EDJ-KQ13270 | Human | 347404 | Details Get a Quote |
| FANCL Knockout HEK293 Cell Line | EDJ-KQ13448 | Human | 55120 | Details Get a Quote |
| LANCL2 Knockout HEK293 Cell Line | EDJ-KQ14023 | Human | 55915 | Details Get a Quote |
| NCLN Knockout HEK293 Cell Line | EDJ-KQ14394 | Human | 56926 | Details Get a Quote |
| FANCL Knockout A-549 Cell Line | EDJ-KQ43003 | Human | 55120 | Details Get a Quote |
| FANCL Knockout HCT 116 Cell Line | EDJ-KQ43004 | Human | 55120 | Details Get a Quote |
| FANCL Knockout HeLa Cell Line | EDJ-KQ43005 | Human | 55120 | Details Get a Quote |
| LANCL2 Knockout A-549 Cell Line | EDJ-KQ43929 | Human | 55915 | Details Get a Quote |
| LANCL2 Knockout HCT 116 Cell Line | EDJ-KQ43930 | Human | 55915 | Details Get a Quote |
| LANCL2 Knockout HeLa Cell Line | EDJ-KQ43931 | Human | 55915 | Details Get a Quote |
| LANCL3 Knockout HCT 116 Cell Line | EDJ-KQ43932 | Human | 347404 | Details Get a Quote |
| LANCL3 Knockout HeLa Cell Line | EDJ-KQ43933 | Human | 347404 | Details Get a Quote |
| NCLN Knockout A-549 Cell Line | EDJ-KQ44569 | Human | 56926 | Details Get a Quote |
| NCLN Knockout HeLa Cell Line | EDJ-KQ44571 | Human | 56926 | Details Get a Quote |
Displaying Records 1 To 15 Of 20 Records
