SRRT (Serrate, RNA Effector Molecule)
A key component of the nuclear exosome targeting complex involved in RNA processing and gene regulation.
Gene Information Card
| Symbol | SRRT |
|---|---|
| Full Name | Serrate, RNA effector molecule |
| Gene Type | Protein coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 51593 ncbi.nlm.nih.gov/gene/51593 |
| Ensembl ID | ENSG00000106333 |
| UniProt ID | Q9BXP5 |
| OMIM ID | 610659 |
| HGNC ID | 11266 |
| Aliases | ARS2, ASR2, SERRATE |
Description
The SRRT gene encodes the Serrate protein, a core component of the nuclear exosome targeting (NEXT) complex. It is involved in the processing and degradation of various RNA species, including small nuclear RNAs (snRNAs), small nucleolar RNAs (snoRNAs), and cryptic unstable transcripts (CUTs). SRRT plays a critical role in RNA metabolism, gene expression regulation, and cellular homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly and structural brain anomalies | Loss-of-function mutations in SRRT impair RNA processing, leading to abnormal brain development | PMID: 31006510 |
| Intellectual disability | Disruption of SRRT-mediated RNA regulation affects neuronal gene expression | PMID: 31006510 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.8 | Medium |
| Lung | 8.2 | Low |
| Liver | 6.1 | Low |
| Heart | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.3 | High expression |
| K562 | 11.0 | Medium expression |
| HeLa | 9.5 | Medium expression |
| HepG2 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.124C>T (p.Arg42*) | Nonsense | Rare | Premature stop, loss of function |
| c.458_459del (p.Glu153Glyfs*5) | Frameshift | Rare | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported pathogenic mutations in SRRT are loss-of-function, leading to haploinsufficiency and impaired RNA processing.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SRRT.
Dominant Negative (DN)
No dominant-negative mutations have been described for SRRT.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • nuclear exosome (RNase complex) |
| • RNA processing | • mRNA processing |
| • snRNA processing | • snoRNA processing |
| • nucleus | • cytoplasm |
Pathways
• Nuclear exosome targeting (NEXT) complex
• RNA surveillance
• snRNA 3'-end processing
Protein Summary
The Serrate protein (UniProt Q9BXP5) is a 100 kDa RNA-binding protein that localizes to the nucleus. It contains a zinc finger domain and is essential for the recruitment of the exosome to specific RNA targets. SRRT interacts with ZCCHC8 and RBM7 to form the NEXT complex, which mediates the degradation of aberrant RNAs and the processing of small non-coding RNAs.
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