SRP68 Gene - Signal Recognition Particle 68
Essential component of the signal recognition particle (SRP) complex for protein targeting to the endoplasmic reticulum
Gene Information Card
| Symbol | SRP68 |
|---|---|
| Full Name | Signal Recognition Particle 68 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.1 |
| NCBI Gene ID | 6730 ncbi.nlm.nih.gov/gene/6730 |
| Ensembl ID | ENSG00000167881 |
| UniProt ID | Q9UHB9 |
| OMIM ID | 604857 |
| HGNC ID | 11301 |
| Aliases | SRP68, SRP68L, SRP68-1 |
Description
The SRP68 gene encodes the 68 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. SRP68 forms a heterodimer with SRP72 and is essential for SRP assembly and function. Mutations in SRP68 are associated with autosomal recessive intellectual disability and developmental delay.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability, autosomal recessive 72 (MRT72) | Loss-of-function mutations impair SRP assembly, disrupting ER targeting of proteins, leading to neuronal dysfunction | PMID: 27866747 |
| Developmental delay with or without intellectual disability | Homozygous or compound heterozygous SRP68 variants cause neurodevelopmental phenotypes | ClinVar: RCV000415601 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Pancreas | 10.3 | Medium |
| Kidney | 8.7 | Medium |
| Brain | 6.2 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | High expression |
| HeLa | 11.8 | Medium expression |
| K562 | 9.5 | Medium expression |
| HepG2 | 8.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.130C>T (p.Arg44*) | Nonsense | Rare | Loss of function; premature stop codon |
| c.1072G>A (p.Gly358Arg) | Missense | Rare | Impaired SRP68-SRP72 interaction |
| c.1685_1686del (p.Glu562Valfs*3) | Frameshift | Rare | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent SRP68 protein, disrupting SRP complex assembly and ER targeting.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Co-translational protein targeting to endoplasmic reticulum (Reactome: R-HSA-1799339)
• Signal recognition particle (SRP) cycle (Reactome: R-HSA-1799303)
Protein Summary
SRP68 is a 68 kDa protein subunit of the signal recognition particle (SRP) complex. It forms a stable heterodimer with SRP72 and binds the SRP RNA (7SL RNA). The SRP68-SRP72 heterodimer is critical for SRP assembly and for the interaction of SRP with the SRP receptor at the ER membrane. SRP68 contains a conserved N-terminal domain involved in RNA binding and a C-terminal domain that mediates protein-protein interactions. Loss of SRP68 function leads to defective protein targeting and is linked to neurodevelopmental disorders.
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