TSR3: A Key Player in Ribosome Biogenesis and Potential Disease Link
Comprehensive genomic and proteomic overview of TSR3, including expression, mutations, and associated disorders.
Gene Information Card
| Symbol | TSR3 |
|---|---|
| Full Name | TSR3, 20S rRNA accumulation homolog (S. cerevisiae) |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 100129 ncbi.nlm.nih.gov/gene/100129 |
| Ensembl ID | ENSG00000161960 |
| UniProt ID | Q9H6X6 |
| OMIM ID | 617573 |
| HGNC ID | 25999 |
| Aliases | C16orf59, FLJ20489, MGC13170 |
Description
TSR3 is a protein-coding gene that encodes a component involved in ribosome biogenesis. The protein is required for the accumulation of 20S pre-rRNA and the maturation of the 40S ribosomal subunit. It is conserved from yeast to humans. Mutations in TSR3 have been associated with a rare autosomal recessive disorder characterized by intellectual disability and developmental delay.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy | Loss of function of TSR3 impairs ribosome biogenesis, leading to reduced protein synthesis and neuronal dysfunction. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Liver | 6.1 | Low |
| Heart | 5.4 | Low |
| Kidney | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | Embryonic kidney cells |
| K562 | 10.1 | Leukemia cells |
| HeLa | 8.7 | Cervical cancer cells |
| HepG2 | 7.2 | 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.337C>T (p.Arg113*) | Nonsense | Rare | Premature stop, loss of function |
| c.502G>A (p.Gly168Arg) | Missense | Rare | Likely damaging, reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing ribosome biogenesis.
Gain of Function (GOF)
No gain-of-function mutations reported for TSR3.
Dominant Negative (DN)
No dominant-negative mutations reported for TSR3.
View complete mutation data：
Gene Ontology (GO)
| • ribosome biogenesis | • rRNA processing |
| • maturation of SSU-rRNA | • nucleolus |
| • cytoplasm |
Pathways
• Ribosome biogenesis in eukaryotes
• rRNA processing in the nucleus and cytosol
Protein Summary
The TSR3 protein is a 267-amino acid polypeptide localized to the nucleolus and cytoplasm. It is essential for the processing of 20S pre-rRNA to mature 18S rRNA, a critical step in 40S ribosomal subunit assembly. Structural studies suggest it may have a role in RNA binding or protein-protein interactions within the pre-ribosomal complex.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TSR3 Knockout HEK293 Cell Line | EDJ-KQ6882 | Human | 115939 | Details Get a Quote |
| TSR3 Knockout A-549 Cell Line | EDJ-KQ32828 | Human | 115939 | Details Get a Quote |
| TSR3 Knockout HCT 116 Cell Line | EDJ-KQ32830 | Human | 115939 | Details Get a Quote |
| TSR3 Knockout HeLa Cell Line | EDJ-KQ32831 | Human | 115939 | Details Get a Quote |
