SRP72
Signal Recognition Particle 72 Subunit
Gene Information Card
| Symbol | SRP72 |
|---|---|
| Full Name | Signal Recognition Particle 72 Subunit |
| Gene Type | Protein coding |
| Chromosomal Location | 4q12 |
| NCBI Gene ID | 6731 ncbi.nlm.nih.gov/gene/6731 |
| Ensembl ID | ENSG00000174780 |
| UniProt ID | P76070 |
| OMIM ID | 602122 |
| HGNC ID | 11301 |
| Aliases | SRP72, SRP72_HUMAN |
Description
SRP72 encodes the 72 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. The SRP72 subunit is essential for SRP assembly and stability. Mutations in SRP72 are associated with familial aplasia of the bone marrow and myelodysplastic syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Myelodysplastic syndrome (MDS) | Loss-of-function mutations in SRP72 impair SRP assembly, leading to defective protein targeting and ER stress, contributing to hematopoietic failure. | ClinVar, OMIM |
| Familial aplasia of the bone marrow (BMFS) | Heterozygous mutations in SRP72 cause haploinsufficiency, disrupting ribosome biogenesis and protein secretion in hematopoietic stem cells. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 6.7 | Low |
| Brain | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 15.1 | High expression |
| HeLa (cervical) | 9.8 | Moderate |
| HEK293 (embryonic kidney) | 7.4 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1063C>T (p.Arg355*) | Nonsense | Rare | Loss of function; associated with MDS |
| c.1375G>A (p.Gly459Arg) | Missense | Rare | Dominant negative effect; familial aplasia |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg355*) lead to truncated protein and haploinsufficiency.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense mutations (e.g., p.Gly459Arg) may interfere with SRP complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005783 – endoplasmic reticulum | • GO:0006614 – SRP-dependent cotranslational protein targeting to membrane |
| • GO:0043022 – ribosome binding | • GO:0008312 – 7S RNA binding |
Pathways
• SRP-dependent cotranslational protein targeting to membrane (Reactome R-HSA-1799339)
• Protein processing in endoplasmic reticulum (KEGG hsa04141)
Protein Summary
SRP72 is a 72 kDa protein component of the signal recognition particle. It binds 7SL RNA and stabilizes the SRP complex. The protein is localized to the cytoplasm and ER, and is involved in co-translational targeting of proteins to the ER membrane. Defects in SRP72 cause bone marrow failure syndromes.
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