SRP54 Gene
Signal Recognition Particle 54
Gene Information Card
| Symbol | SRP54 |
|---|---|
| Full Name | Signal Recognition Particle 54 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q13.2 |
| NCBI Gene ID | 6729 ncbi.nlm.nih.gov/gene/6729 |
| Ensembl ID | ENSG00000100804 |
| UniProt ID | P61011 |
| OMIM ID | 604857 |
| HGNC ID | 11301 |
| Aliases | SRP54, SRP54a |
Description
The SRP54 gene encodes the 54 kDa subunit of the signal recognition particle (SRP), a ribonucleoprotein complex that targets nascent secretory and membrane proteins to the endoplasmic reticulum (ER) for translocation. SRP54 binds the signal peptide as it emerges from the ribosome and mediates the interaction with the SRP receptor on the ER membrane. Mutations in SRP54 cause autosomal dominant neutropenia with or without exocrine pancreatic insufficiency, resembling Shwachman-Diamond syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal dominant neutropenia | Loss-of-function mutations impair SRP-mediated protein targeting, leading to ER stress and defective granulopoiesis. | ClinVar, OMIM |
| Shwachman-Diamond syndrome-like phenotype | SRP54 mutations disrupt ribosome binding and signal peptide recognition, causing bone marrow failure and pancreatic insufficiency. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Pancreas | 10.2 | Medium |
| Liver | 8.9 | Medium |
| Small intestine | 7.6 | Low |
| Kidney | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 15.3 | Leukemia cell line |
| HeLa | 11.8 | Cervical carcinoma |
| HepG2 | 10.1 | Hepatocellular carcinoma |
| HEK293 | 9.5 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.304C>T (p.Arg102Trp) | Missense | Rare | Dominant negative; reduces SRP54 binding to SRP receptor |
| c.347G>A (p.Arg116His) | Missense | Rare | Loss of function; impairs signal peptide recognition |
| c.422G>A (p.Arg141Gln) | Missense | Rare | Dominant negative; causes neutropenia |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the GTPase domain impair SRP54 activity, reducing ER targeting efficiency.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Mutations such as p.Arg102Trp and p.Arg141Gln act in a dominant negative manner, disrupting SRP complex assembly and function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• SRP-dependent cotranslational protein targeting to membrane (Reactome R-HSA-1799339)
• Protein processing in endoplasmic reticulum (KEGG hsa04141)
Protein Summary
SRP54 is a 54 kDa GTPase that forms the core of the signal recognition particle. It contains an N-terminal GTPase domain, a central helical domain, and a C-terminal methionine-rich domain that binds signal peptides. The protein interacts with SRP RNA and the SRP receptor to facilitate co-translational translocation of proteins into the ER. Mutations in SRP54 cause a rare form of congenital neutropenia.
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