YKT6: A Key SNARE Protein in Vesicle Trafficking
Comprehensive gene information for YKT6, including function, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | YKT6 |
|---|---|
| Full Name | YKT6 v-SNARE homolog (S. cerevisiae) |
| Gene Type | protein-coding |
| Chromosomal Location | 7p15.2 |
| NCBI Gene ID | 10652 ncbi.nlm.nih.gov/gene/10652 |
| Ensembl ID | ENSG00000106636 |
| UniProt ID | O15498 |
| OMIM ID | 606209 |
| HGNC ID | 16959 |
| Aliases | YKT6 v-SNARE, SLY1, V-SNARE |
Description
YKT6 is a member of the SNARE (Soluble N-ethylmaleimide-sensitive factor Attachment Protein REceptor) family, specifically a v-SNARE (vesicle-associated SNARE). It is involved in intracellular vesicle trafficking, mediating fusion of vesicles with target membranes. YKT6 is essential for Golgi-to-ER transport, endosomal trafficking, and autophagy. It is ubiquitously expressed and plays a role in cellular homeostasis, with implications in cancer and neurodegenerative diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered YKT6 expression may disrupt vesicle trafficking, affecting cell signaling and proliferation. | COSMIC database reports mutations in multiple cancer types; overexpression observed in some tumors. |
| Neurodegenerative diseases (e.g., Alzheimer's) | Impaired YKT6 function may lead to defective autophagy and accumulation of toxic proteins. | Studies show reduced YKT6 levels in Alzheimer's brain tissue (PMID: 27565344). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Liver | 12.8 | Medium |
| Kidney | 10.5 | Low |
| Heart | 8.3 | Low |
| Lung | 9.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.4 | Cervical cancer cell line |
| HEK293 | 16.7 | Embryonic kidney cells |
| A549 | 14.2 | Lung cancer cell line |
| MCF7 | 12.1 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Likely loss of function due to start codon loss |
| c.214C>T (p.Arg72Trp) | Missense | 0.01% | Unknown; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Mutations affecting the start codon or critical residues may impair SNARE function, disrupting vesicle fusion.
Gain of Function (GOF)
Not well characterized; no clear gain-of-function mutations reported.
Dominant Negative (DN)
Possible if mutant YKT6 interferes with SNARE complex assembly, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• SNARE interactions in vesicular transport (KEGG: hsa04130)
• Autophagy - animal (KEGG: hsa04140)
• Endocytosis (KEGG: hsa04144)
Protein Summary
YKT6 is a 198-amino acid SNARE protein (UniProt O15498) that localizes to the Golgi apparatus, endosomes, and vesicles. It contains a longin domain and a SNARE motif, enabling it to form complexes with other SNAREs (e.g., syntaxin 5, GS15) to mediate membrane fusion. YKT6 is palmitoylated for membrane anchoring and is essential for Golgi-to-ER retrograde transport, endosomal recycling, and autophagosome formation. Its dysregulation is linked to cancer progression and neurodegeneration.
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