SLIRP (SRA Stem-Loop Interacting RNA Binding Protein): A Key Regulator of Mitochondrial Gene Expression
Explore the SLIRP gene, its protein product, genomic context, expression patterns, and clinical significance in mitochondrial biology and disease.
Gene Information Card
| Symbol | SLIRP |
|---|---|
| Full Name | SRA stem-loop interacting RNA binding protein |
| Gene Type | protein coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 79184 ncbi.nlm.nih.gov/gene/79184 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q8N3C0 |
| OMIM ID | 614502 |
| HGNC ID | HGNC:23822 |
| Aliases | C14orf156, DC50, FLJ22390 |
Description
The SLIRP gene encodes a small RNA-binding protein that localizes to mitochondria and plays a critical role in mitochondrial gene expression. It interacts with the steroid receptor RNA activator (SRA) and is involved in the regulation of mitochondrial RNA processing and translation. SLIRP is essential for the stability and translation of mitochondrial mRNAs, and its dysfunction is linked to mitochondrial disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial disease (general) | SLIRP mutations lead to impaired mitochondrial translation and respiratory chain deficiency, causing a multisystem disorder. | ClinVar: Pathogenic variants reported in patients with mitochondrial encephalopathy and lactic acidosis. |
| Combined oxidative phosphorylation deficiency (COXPD) | Biallelic SLIRP mutations cause COXPD, characterized by defective mitochondrial protein synthesis and reduced activity of multiple respiratory chain complexes. | OMIM: 614502; ClinVar: Pathogenic variants. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal Muscle | 10.2 | Medium |
| Liver | 8.1 | Low |
| Brain | 7.3 | Low |
| Kidney | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 9.8 | Hepatocellular carcinoma cell line; moderate expression |
| A549 | 8.5 | Lung carcinoma cell line; moderate expression |
| MCF7 | 7.2 | Breast adenocarcinoma cell line; low expression |
| K562 | 6.1 | Chronic myelogenous leukemia cell line; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Start codon loss | Rare | Loss of protein translation; likely pathogenic |
| c.238C>T (p.Arg80*) | Nonsense | Rare | Premature truncation; loss of function |
| c.287_288del (p.Glu96fs) | Frameshift | Rare | Frameshift leading to truncated protein; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most SLIRP mutations are loss-of-function, leading to reduced or absent protein, impairing mitochondrial RNA stability and translation.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SLIRP.
Dominant Negative (DN)
No dominant-negative effects have been described; SLIRP mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • mitochondrion |
| • mitochondrial mRNA stabilization | • regulation of mitochondrial translation |
| • mitochondrial gene expression |
Pathways
• Mitochondrial translation
• Mitochondrial RNA processing
Protein Summary
The SLIRP protein is a 109-amino acid RNA-binding protein that resides in the mitochondrial matrix. It binds to mitochondrial mRNAs, protecting them from degradation and facilitating their translation. SLIRP interacts with the mitochondrial RNA-binding protein LRPPRC, forming a complex essential for the stability and polyadenylation of mitochondrial transcripts. Defects in SLIRP lead to mitochondrial dysfunction and disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLIRP Knockout HEK293 Cell Line | EDJ-KQ9777 | Human | 81892 | Details Get a Quote |
| SLIRP Knockout A-549 Cell Line | EDJ-KQ36617 | Human | 81892 | Details Get a Quote |
| SLIRP Knockout HCT 116 Cell Line | EDJ-KQ36618 | Human | 81892 | Details Get a Quote |
| SLIRP Knockout HeLa Cell Line | EDJ-KQ36619 | Human | 81892 | Details Get a Quote |
