SRP19: Signal Recognition Particle 19
A key component of the signal recognition particle complex involved in co-translational protein targeting to the endoplasmic reticulum.
Gene Information Card
| Symbol | SRP19 |
|---|---|
| Full Name | Signal Recognition Particle 19 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q22.2 |
| NCBI Gene ID | 6728 ncbi.nlm.nih.gov/gene/6728 |
| Ensembl ID | ENSG00000113522 |
| UniProt ID | P09132 |
| OMIM ID | 182175 |
| HGNC ID | 11301 |
| Aliases | SRP19, SRP19 protein |
Description
The SRP19 gene encodes the 19 kDa subunit of the signal recognition particle (SRP), a ribonucleoprotein complex that targets nascent secretory and membrane proteins to the endoplasmic reticulum (ER) for co-translational translocation. SRP19 binds to the SRP RNA and is essential for the assembly and stability of the SRP complex.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not applicable | No evidence in ClinVar, OMIM, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Pancreas | 10.2 | Medium |
| Kidney | 8.7 | Medium |
| Heart | 6.3 | Low |
| Brain | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HeLa | 12.3 | Medium expression |
| HepG2 | 11.8 | Medium expression |
| K562 | 9.5 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown effect; not validated in ClinVar |
| c.100C>T | Synonymous | <0.01% | No known functional impact |
Mutation functional classification
Loss of Function (LOF)
No validated loss-of-function mutations reported.
Gain of Function (GOF)
No validated gain-of-function mutations reported.
Dominant Negative (DN)
No validated dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • endoplasmic reticulum (GO:0005783) | • SRP-dependent cotranslational protein targeting to membrane (GO:0006614) |
| • ribosome binding (GO:0043022) | • 7S RNA binding (GO:0008312) |
Pathways
• SRP-dependent cotranslational protein targeting to membrane (Reactome R-HSA-1799339)
• Protein processing in endoplasmic reticulum (KEGG hsa04141)
Protein Summary
SRP19 is a 144-amino acid protein (16.5 kDa) that forms a globular domain with a central beta-sheet flanked by alpha-helices. It binds directly to the SRP RNA (7SL RNA) and stabilizes the SRP complex, facilitating the interaction between SRP54 and the ribosome-nascent chain complex.
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