STX17: Syntaxin 17 Gene
Key regulator of autophagosome-lysosome fusion and mitochondrial dynamics
Gene Information Card
| Symbol | STX17 |
|---|---|
| Full Name | syntaxin 17 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q31.1 |
| NCBI Gene ID | 55014 ncbi.nlm.nih.gov/gene/55014 |
| Ensembl ID | ENSG00000136869 |
| UniProt ID | P56962 |
| OMIM ID | 616604 |
| HGNC ID | 11433 |
| Aliases | KIAA0476, STX17A, STX17B |
Description
STX17 (syntaxin 17) encodes a member of the syntaxin family of SNARE proteins. It is localized to the endoplasmic reticulum and mitochondria, and plays a critical role in autophagosome-lysosome fusion during autophagy. STX17 also participates in mitochondrial dynamics and lipid droplet homeostasis. Mutations and dysregulation of STX17 are implicated in cancer, neurodegenerative diseases, and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of autophagy due to altered STX17 expression may promote tumorigenesis | ClinVar, COSMIC |
| Neurodegenerative disorders | Impaired autophagic clearance of protein aggregates linked to STX17 dysfunction | NCBI Gene, OMIM |
| Metabolic syndrome | STX17 involvement in lipid droplet fusion affects lipid metabolism | UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Heart | 6.7 | Low |
| Skeletal Muscle | 5.1 | Low |
| Kidney | 9.2 | Low |
| Testis | 15.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 11.2 | Cervical cancer cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| SH-SY5Y | 14.1 | Neuroblastoma cell line |
| HepG2 | 7.5 | Hepatocellular carcinoma |
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.325C>T (p.Arg109Trp) | Missense | Rare | Potential impact on SNARE domain |
| c.550G>A (p.Gly184Arg) | Missense | Rare | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Mutations disrupting the SNARE domain or start codon likely impair autophagosome-lysosome fusion.
Gain of Function (GOF)
Not well documented; no clear gain-of-function mutations reported.
Dominant Negative (DN)
Possible if mutant STX17 interferes with wild-type SNARE complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • SNAP receptor activity (GO:0005484) | • vesicle fusion (GO:0006906) |
| • vesicle-mediated transport (GO:0016192) | • endosomal vesicle fusion (GO:0034058) |
| • early endosome to late endosome transport (GO:0045022) | • process utilizing autophagic mechanism (GO:0061919) |
Pathways
• Autophagy - animal (KEGG: hsa04140)
• SNARE interactions in vesicular transport (KEGG: hsa04130)
• Mitophagy - animal (KEGG: hsa04137)
Protein Summary
Syntaxin 17 is a 302-amino acid SNARE protein with a C-terminal transmembrane domain. It localizes to the ER and mitochondria, and upon autophagy induction, it translocates to autophagosomes to mediate fusion with lysosomes via interaction with SNAP29 and VAMP8. STX17 also regulates mitochondrial fission and fusion, and lipid droplet biogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| STX17 Knockout HEK293 Cell Line | EDJ-KQ6604 | Human | 55014 | Details Get a Quote |
| STX17 Knockout HCT 116 Cell Line | EDJ-KQ29490 | Human | 55014 | Details Get a Quote |
| STX17 Knockout A-549 Cell Line | EDJ-KQ30833 | Human | 55014 | Details Get a Quote |
| STX17 Knockout HeLa Cell Line | EDJ-KQ30835 | Human | 55014 | Details Get a Quote |
| Stx17 Knockout 266-6 Cell Line | EDJ-KZ499 | Mouse | 67727 | Details Get a Quote |
