SNTG1 (Syntrophin Gamma 1)
A member of the syntrophin family involved in dystrophin-associated protein complex and neuromuscular junction organization.
Gene Information Card
| Symbol | SNTG1 |
|---|---|
| Full Name | Syntrophin Gamma 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q11.21 |
| NCBI Gene ID | 54212 ncbi.nlm.nih.gov/gene/54212 |
| Ensembl ID | ENSG00000104419 |
| UniProt ID | Q9NSN8 |
| OMIM ID | 608714 |
| HGNC ID | 11168 |
| Aliases | SYN5, G1SYN, gamma-1-syntrophin |
Description
SNTG1 encodes syntrophin gamma 1, a member of the syntrophin family that binds to dystrophin and dystrophin-related proteins. It is a peripheral membrane protein involved in the dystrophin-associated protein complex (DAPC), linking the cytoskeleton to the extracellular matrix. SNTG1 is predominantly expressed in brain and muscle tissues and plays a role in neuromuscular junction organization and signal transduction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Muscular dystrophy (Duchenne/Becker) | Disruption of DAPC due to dystrophin deficiency may involve SNTG1 mislocalization | PMID: 10615128 |
| Schizophrenia | SNTG1 variants associated with synaptic dysfunction | PMID: 21743477 |
| Breast cancer | Altered SNTG1 expression linked to tumor progression | COSMIC v99 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.3 | Medium |
| Skeletal muscle | 8.7 | Low |
| Heart | 6.2 | Low |
| Testis | 4.1 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| HeLa (cervical carcinoma) | 2.1 | Low expression |
| MCF7 (breast cancer) | 1.8 | Low expression |
| HepG2 (hepatocellular carcinoma) | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | 0.001% (gnomAD) | Unknown functional effect |
| c.1022_1023del (p.Glu341Glyfs*12) | Frameshift | <0.001% | Predicted loss of function |
| c.56G>A (p.Arg19His) | Missense | 0.002% | ClinVar uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants predicted to truncate the protein, likely disrupting DAPC binding.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
No known dominant-negative variants.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoskeleton (GO:0005856) |
| • dystrophin-associated glycoprotein complex (GO:0016010) | • cell junction (GO:0030054) |
| • synapse (GO:0045202) |
Pathways
• Dystrophin-associated glycoprotein complex (DAPC)
• Neuromuscular junction organization
Protein Summary
Syntrophin gamma 1 is a 60 kDa peripheral membrane protein containing two pleckstrin homology (PH) domains and a PDZ domain. It localizes to the sarcolemma in muscle and to synapses in neurons, where it anchors signaling proteins and ion channels to the dystrophin complex. The protein is encoded by SNTG1 and is essential for maintaining membrane stability and synaptic function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SNTG1 Knockout HEK293 Cell Line | EDJ-KQ11397 | Human | 54212 | Details Get a Quote |
| SNTG1 Knockout HeLa Cell Line | EDJ-KQ56404 | Human | 54212 | Details Get a Quote |
| SNTG1 Knockout A-549 Cell Line | EDJ-KQ64896 | Human | 54212 | Details Get a Quote |
| SNTG1 Knockout HCT 116 Cell Line | EDJ-KQ73340 | Human | 54212 | Details Get a Quote |
