NOL12: Nucleolar Protein 12
A key regulator of ribosome biogenesis and nucleolar integrity
Gene Information Card
| Symbol | NOL12 |
|---|---|
| Full Name | Nucleolar Protein 12 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 79159 ncbi.nlm.nih.gov/gene/79159 |
| Ensembl ID | ENSG00000100300 |
| UniProt ID | Q9H6R4 |
| OMIM ID | 611206 |
| HGNC ID | 26239 |
| Aliases | NOP25, HSPC159, dJ37E16.5 |
Description
NOL12 (Nucleolar Protein 12) encodes a nucleolar protein involved in ribosome biogenesis, specifically in the processing of pre-ribosomal RNA (pre-rRNA). It localizes to the nucleolus and is essential for maintaining nucleolar structure and function. NOL12 interacts with other nucleolar proteins and RNA helicases to facilitate rRNA maturation and ribosome assembly. Its expression is associated with cell proliferation and is dysregulated in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | NOL12 overexpression promotes ribosome biogenesis and cell proliferation, contributing to tumorigenesis. | COSMIC; literature (PMID: 25619955) |
| Colorectal cancer | Upregulated in colorectal tumors; associated with poor prognosis. | COSMIC; literature (PMID: 25619955) |
| Breast cancer | NOL12 expression correlates with aggressive subtypes and reduced survival. | COSMIC; literature (PMID: 25619955) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 10.2 | Medium |
| Lymph node | 9.8 | Medium |
| Spleen | 8.5 | Medium |
| Brain | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.1 | Cervical cancer cell line; high expression |
| HEK293 | 12.3 | Embryonic kidney; moderate expression |
| K562 | 14.7 | Leukemia cell line; high expression |
| MCF7 | 11.8 | Breast cancer; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Potential loss of start codon; likely loss of function |
| c.214C>T (p.Arg72Trp) | Missense | <0.01% | Rare variant; functional impact unknown |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Rare variant; functional impact unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
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 (GO:0005730) | • rRNA processing (GO:0006364) |
| • ribosome biogenesis (GO:0042254) | • RNA binding (GO:0003723) |
| • nucleoplasm (GO:0005654) |
Pathways
• Ribosome biogenesis in eukaryotes (Reactome: R-HSA-6791226)
• rRNA processing in the nucleus and cytosol (Reactome: R-HSA-8868773)
Protein Summary
NOL12 is a 25 kDa nucleolar protein (UniProt Q9H6R4) that contains a conserved N-terminal domain and a C-terminal region rich in basic residues. It binds RNA and is involved in the early steps of pre-rRNA processing, particularly cleavage at sites A0, A1, and A2 in the 5' ETS and ITS1 regions. NOL12 interacts with nucleolar proteins such as NPM1 and DDX21. Its expression is cell-cycle regulated and peaks in S phase. Overexpression in cancer cells enhances ribosome production and growth.
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