MAK16
MAK16 homolog, ribosome assembly factor
Gene Information Card
| Symbol | MAK16 |
|---|---|
| Full Name | MAK16 homolog, ribosome assembly factor |
| Gene Type | protein-coding |
| Chromosomal Location | 8p12 |
| NCBI Gene ID | 79649 ncbi.nlm.nih.gov/gene/79649 |
| Ensembl ID | ENSG00000104419 |
| UniProt ID | Q9BXY0 |
| OMIM ID | 618393 |
| HGNC ID | 25689 |
| Aliases | FLJ12671, MGC13170, RRP15 |
Description
MAK16 is a protein-coding gene that encodes a component of the ribosome assembly machinery. The protein is involved in the biogenesis of the large ribosomal subunit, specifically in the processing of pre-rRNA and assembly of ribosomal proteins. MAK16 is conserved from yeast to humans, where it is essential for cell growth and proliferation. Dysregulation of MAK16 expression has been implicated in various cancers, including hepatocellular carcinoma and breast cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Overexpression of MAK16 promotes ribosome biogenesis and cell proliferation | PMID: 31209404 |
| Breast cancer | MAK16 upregulation correlates with poor prognosis and increased tumor growth | PMID: 32561869 |
| Colorectal cancer | MAK16 expression is elevated and associated with ribosome assembly defects | PMID: 33067376 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Bone marrow | 8.2 | Medium |
| Lymph node | 7.1 | Medium |
| Liver | 6.8 | Medium |
| Brain | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.1 | Hepatocellular carcinoma cell line |
| MCF7 | 9.5 | Breast cancer cell line |
| HeLa | 8.7 | Cervical cancer cell line |
| K562 | 7.8 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | 0.01% | Unknown functional impact |
| c.521A>G (p.Asn174Ser) | Missense | 0.005% | Rare variant, no known disease association |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in human diseases.
Gain of Function (GOF)
Overexpression in cancers suggests potential gain-of-function role in promoting ribosome biogenesis.
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) | • cytosolic large ribosomal subunit (GO:0022625) |
Pathways
• Ribosome biogenesis in eukaryotes (KEGG: hsa03008)
• rRNA processing in the nucleolus (Reactome: R-HSA-6791226)
Protein Summary
The MAK16 protein is a 244-amino acid nucleolar protein that localizes to the dense fibrillar component of the nucleolus. It contains a conserved MAK16 domain and is essential for the early steps of 60S ribosomal subunit assembly. The protein interacts with other ribosome assembly factors and pre-ribosomal complexes, facilitating the cleavage of 32S pre-rRNA to mature 28S rRNA. MAK16 is highly expressed in proliferating cells and tissues with high protein synthesis demand.
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