TSR1: 20S rRNA Accumulation Homolog
A ribosome biogenesis factor implicated in ribosomopathies and cancer
Gene Information Card
| Symbol | TSR1 |
|---|---|
| Full Name | 20S rRNA Accumulation Homolog 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.3 |
| NCBI Gene ID | 55720 ncbi.nlm.nih.gov/gene/55720 |
| Ensembl ID | ENSG00000108423 |
| UniProt ID | Q2NL82 |
| OMIM ID | 617541 |
| HGNC ID | 25276 |
| Aliases | FLJ10534, MGC13170 |
Description
TSR1 (20S rRNA Accumulation Homolog 1) encodes a nucleolar protein essential for ribosome biogenesis. It is involved in the processing of 20S pre-rRNA to mature 18S rRNA, a critical step in small ribosomal subunit assembly. TSR1 is conserved across eukaryotes and its dysfunction is linked to ribosomopathies and oncogenic transformation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia (DBA) | Impaired ribosome biogenesis due to TSR1 haploinsufficiency leads to defective erythroid progenitor maturation. | ClinVar: pathogenic variants reported in DBA patients. |
| Colorectal cancer | TSR1 overexpression promotes rRNA synthesis and ribosome production, supporting tumor cell proliferation. | COSMIC: somatic mutations and copy number gains observed. |
| Acute myeloid leukemia (AML) | Altered TSR1 expression disrupts ribosome assembly, contributing to leukemogenesis. | COSMIC: recurrent missense mutations identified. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 18.5 | High |
| Bone marrow | 12.3 | Medium |
| Lymph node | 10.1 | Medium |
| Brain | 4.2 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression in embryonic kidney cells |
| HeLa | 13.7 | High expression in cervical cancer cells |
| K562 | 11.4 | Moderate expression in leukemia cells |
| HepG2 | 6.1 | Low expression in liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.742C>T (p.Arg248Trp) | Missense | 0.01% | Impaired rRNA binding, reduced ribosome biogenesis |
| c.1123G>A (p.Glu375Lys) | Missense | 0.005% | Altered protein stability, dominant negative effect suspected |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in TSR1 lead to truncated protein and reduced 18S rRNA production, causing ribosome insufficiency.
Gain of Function (GOF)
Amplification or overexpression of TSR1 increases ribosome biogenesis, promoting uncontrolled cell growth in cancers.
Dominant Negative (DN)
Missense mutations (e.g., p.Glu375Lys) produce a defective protein that interferes with wild-type TSR1 function, impairing ribosome assembly.
View complete mutation data：
Gene Ontology (GO)
| • nucleolus (GO:0005730) | • rRNA processing (GO:0006364) |
| • ribosome biogenesis (GO:0042254) | • RNA binding (GO:0003723) |
| • maturation of SSU-rRNA from tricistronic rRNA transcript (GO:0000462) |
Pathways
• Ribosome biogenesis in eukaryotes (KEGG: hsa03008)
• rRNA processing in the nucleus and cytosol (Reactome: R-HSA-8868773)
Protein Summary
TSR1 is a 789-amino acid nucleolar protein that binds pre-rRNA and facilitates the cleavage of 20S pre-rRNA to mature 18S rRNA. It contains a conserved TSR1 domain and interacts with other ribosome assembly factors. The protein is essential for small ribosomal subunit maturation and its dysregulation is implicated in ribosomopathies and cancer.
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