STON1: Stonin 1 – Endocytic Adaptor Protein
Comprehensive gene overview of STON1, including genomic context, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | STON1 |
|---|---|
| Full Name | stonin 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p16.3 |
| NCBI Gene ID | 11037 ncbi.nlm.nih.gov/gene/11037 |
| Ensembl ID | ENSG00000115970 |
| UniProt ID | Q9Y6Q2 |
| OMIM ID | 608467 |
| HGNC ID | 11386 |
| Aliases | STN1, STON1A, KIAA0885 |
Description
STON1 encodes stonin 1, a protein involved in clathrin-mediated endocytosis. It functions as an adaptor that links cargo molecules to the endocytic machinery, particularly in synaptic vesicle recycling. The gene is expressed in multiple tissues and has been implicated in neurological and cancer-related processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Potential role in synaptic vesicle recycling; variants may disrupt endocytosis | ClinVar |
| Autism spectrum disorder | Rare variants observed in ASD cohorts; functional impact on synaptic function | ClinVar |
| Cancer (various) | Altered expression in tumors; potential role in cell signaling and growth | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.2 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 10.2 | Neuronal model |
| HEK293 (embryonic kidney) | 7.8 | Common expression system |
| HeLa (cervical carcinoma) | 6.5 | Epithelial cancer line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown functional effect |
| c.567delG (p.Glu189fs) | Frameshift | <0.01% | Predicted loss of function |
| c.890A>G (p.Asn297Ser) | Missense | <0.01% | Reported in ASD cohort |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants predicted to cause loss of stonin 1 function, potentially impairing endocytosis.
Gain of Function (GOF)
No gain-of-function variants reported for STON1.
Dominant Negative (DN)
No dominant-negative variants reported for STON1.
View complete mutation data：
Gene Ontology (GO)
| • clathrin-dependent endocytosis | • synaptic vesicle endocytosis |
| • protein binding | • intracellular protein transport |
| • membrane organization |
Pathways
• Clathrin-mediated endocytosis (Reactome: R-HSA-8856828)
• Synaptic vesicle cycle (KEGG: hsa04721)
Protein Summary
Stonin 1 is a 798-amino acid protein containing a μ-homology domain (MHD) that interacts with AP-2 and cargo proteins. It localizes to clathrin-coated pits and facilitates the internalization of specific membrane proteins, including synaptotagmin. The protein is highly expressed in brain and testis, consistent with its role in synaptic function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| STON1 Knockout HEK293 Cell Line | EDJ-KQ51033 | Human | 11037 | Details Get a Quote |
| STON1-GTF2A1L Knockout HEK293 Cell Line | EDJ-KQ52224 | Human | 286749 | Details Get a Quote |
| STON1 Knockout HeLa Cell Line | EDJ-KQ55554 | Human | 11037 | Details Get a Quote |
| STON1-GTF2A1L Knockout HeLa Cell Line | EDJ-KQ59563 | Human | 286749 | Details Get a Quote |
| STON1 Knockout A-549 Cell Line | EDJ-KQ64048 | Human | 11037 | Details Get a Quote |
| STON1-GTF2A1L Knockout A-549 Cell Line | EDJ-KQ68029 | Human | 286749 | Details Get a Quote |
| STON1 Knockout HCT 116 Cell Line | EDJ-KQ72498 | Human | 11037 | Details Get a Quote |
| STON1-GTF2A1L Knockout HCT 116 Cell Line | EDJ-KQ76409 | Human | 286749 | Details Get a Quote |
