STAU1 (Staufen Double-Stranded RNA Binding Protein 1): A Key Regulator of mRNA Localization, Translation, and Decay
STAU1 encodes a double-stranded RNA-binding protein involved in mRNA localization, translation regulation, and Staufen-mediated mRNA decay. This gene is implicated in neurodevelopmental disorders and various cancers.
Gene Information Card
| Symbol | STAU1 |
|---|---|
| Full Name | Staufen double-stranded RNA binding protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.13 |
| NCBI Gene ID | 6780 ncbi.nlm.nih.gov/gene/6780 |
| Ensembl ID | ENSG00000124214 |
| UniProt ID | O95793 |
| OMIM ID | 601716 |
| HGNC ID | 11370 |
| Aliases | STAU, PPP1R150, FLJ12287, MGC21394 |
Description
The STAU1 gene encodes Staufen1, a double-stranded RNA (dsRNA)-binding protein that plays a critical role in the post-transcriptional regulation of gene expression. Staufen1 is involved in mRNA localization, translation control, and a specific mRNA decay pathway known as Staufen-mediated mRNA decay (SMD). It functions by binding to the 3' untranslated regions (UTRs) of target mRNAs, often in a translation-dependent manner, and recruiting components of the RNA-induced silencing complex (RISC) or other protein partners to regulate mRNA fate. STAU1 is widely expressed, with particularly high levels in the brain, and is essential for normal neuronal development and function. Dysregulation of STAU1 has been linked to neurodevelopmental disorders and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental delay | Pathogenic variants in STAU1 are associated with neurodevelopmental delay, likely due to disrupted mRNA regulation in neurons, affecting synaptic function and plasticity. | ClinVar, OMIM |
| Intellectual disability | Missense and loss-of-function variants in STAU1 have been reported in patients with intellectual disability, suggesting a critical role in cognitive development. | ClinVar, OMIM |
| Cancers (e.g., breast, lung, colorectal) | STAU1 is overexpressed in several cancers and promotes tumor cell proliferation, migration, and invasion. It may regulate the expression of oncogenes and tumor suppressors via SMD. | COSMIC, PubMed |
| Myopathy | Variants in STAU1 have been implicated in a rare form of myopathy, potentially affecting mRNA localization in muscle fibers. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 25.4 | High |
| Testis | 15.2 | Medium |
| Thyroid | 12.8 | Medium |
| Adrenal Gland | 11.5 | Medium |
| Liver | 8.1 | Low |
| Lung | 7.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (Neuroblastoma) | 18.5 | High expression; used as a model for neuronal STAU1 function. |
| HeLa (Cervical Carcinoma) | 12.3 | Moderate expression; commonly used in STAU1 functional studies. |
| MCF7 (Breast Carcinoma) | 15.1 | High expression; associated with cancer cell proliferation. |
| A549 (Lung Carcinoma) | 9.8 | Moderate expression; implicated in tumor progression. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.346C>T (p.Arg116Cys) | Missense | Rare | Likely affects dsRNA binding affinity; associated with neurodevelopmental delay. |
| c.1123A>G (p.Thr375Ala) | Missense | Rare | Located in the second dsRNA-binding domain; may alter mRNA target specificity. |
| c.1570C>T (p.Arg524*) | Nonsense | Very Rare | Introduces a premature stop codon, leading to a truncated protein and likely loss of function. |
| c.IVS10+1G>A | Splice-site | Rare | Disrupts splicing, potentially leading to exon skipping and a non-functional protein. |
Mutation functional classification
Loss of Function (LOF)
Nonsense and splice-site mutations that result in a truncated or absent protein are classified as loss-of-function. These are associated with neurodevelopmental phenotypes, suggesting haploinsufficiency.
Gain of Function (GOF)
Gene amplification and overexpression of wild-type STAU1 in cancers can be considered a gain-of-function at the expression level, promoting oncogenic pathways.
Dominant Negative (DN)
Some missense mutations in the dsRNA-binding domains may produce a protein that can bind to protein partners but not to RNA, potentially acting in a dominant-negative manner to interfere with the function of the wild-type protein.
View complete mutation data：
Gene Ontology (GO)
| • double-stranded RNA binding | • mRNA binding |
| • RNA stem-loop binding | • protein binding |
| • mRNA 3'-UTR binding | • cytoplasm |
| • ribonucleoprotein complex | • P-body |
| • stress granule | • regulation of mRNA stability |
| • mRNA localization | • translational initiation |
| • Staufen-mediated mRNA decay |
Pathways
• Staufen-mediated mRNA decay (SMD)
• mRNA surveillance pathway
• Regulation of translation
• Transport of mRNA to the dendrite
Protein Summary
Staufen1 is a 55 kDa protein containing four double-stranded RNA-binding domains (dsRBDs). It is a core component of ribonucleoprotein (RNP) complexes that transport mRNAs to specific subcellular locations, particularly in neurons. In the cytoplasm, STAU1 can bind to the 3' UTR of mRNAs that contain a Staufen-binding site (SBS), often in a translation-dependent manner. This binding recruits UPF1, a key factor in nonsense-mediated decay, to trigger Staufen-mediated mRNA decay (SMD). STAU1 also plays a role in regulating translation by interacting with the translation initiation machinery. Its function is critical for synaptic plasticity, neuronal development, and cell cycle progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| STAU1 Knockout HEK293 Cell Line | EDJ-KQ15535 | Human | 6780 | Details Get a Quote |
| STAU1 Knockout A-549 Cell Line | EDJ-KQ46372 | Human | 6780 | Details Get a Quote |
| STAU1 Knockout HCT 116 Cell Line | EDJ-KQ46373 | Human | 6780 | Details Get a Quote |
| STAU1 Knockout HeLa Cell Line | EDJ-KQ46374 | Human | 6780 | Details Get a Quote |
