STX5: Syntaxin 5 – Key Regulator of Intracellular Membrane Trafficking
A comprehensive biomedical overview of STX5, including gene characteristics, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | STX5 |
|---|---|
| Full Name | Syntaxin 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q12.3 |
| NCBI Gene ID | 6811 ncbi.nlm.nih.gov/gene/6811 |
| Ensembl ID | ENSG00000110367 |
| UniProt ID | Q13190 |
| OMIM ID | 603189 |
| HGNC ID | 11440 |
| Aliases | SED5, STX5A, syntaxin-5 |
Description
STX5 (syntaxin 5) encodes a member of the syntaxin family of SNARE proteins, which mediate vesicle docking and fusion. STX5 is primarily localized to the Golgi apparatus and is essential for ER-to-Golgi and intra-Golgi transport. It forms a complex with other SNAREs to facilitate membrane fusion during protein trafficking.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation type IIn (CDG-IIn) | Impaired Golgi trafficking due to STX5 loss-of-function mutations disrupts protein glycosylation. | ClinVar, OMIM |
| Neurodevelopmental disorder with microcephaly and seizures | STX5 mutations affect neuronal vesicle transport, leading to developmental defects. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 10.3 | Medium |
| Pancreas | 8.7 | Low |
| Kidney | 9.1 | Low |
| Testis | 15.2 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.0 | High expression |
| HEK293 | 11.5 | Medium expression |
| K562 | 7.8 | Low expression |
| HepG2 | 9.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.676C>T (p.Arg226Trp) | Missense | Rare | Loss of function; disrupts SNARE complex formation |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of function; prevents translation initiation |
| c.1048_1050del (p.Lys350del) | In-frame deletion | Rare | Alters Golgi localization and trafficking |
Mutation functional classification
Loss of Function (LOF)
Most reported STX5 mutations are loss-of-function, impairing vesicle fusion and Golgi transport.
Gain of Function (GOF)
No gain-of-function mutations have been reported for STX5.
Dominant Negative (DN)
Some missense mutations may act in a dominant-negative manner by interfering with wild-type SNARE complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • SNARE binding | • vesicle fusion |
| • Golgi apparatus | • ER to Golgi vesicle-mediated transport |
| • intracellular protein transport | • membrane fusion |
Pathways
• ER-to-Golgi vesicle-mediated transport
• Golgi-to-ER retrograde transport
• SNARE interactions in vesicular transport
Protein Summary
STX5 (syntaxin-5) is a 386-amino acid SNARE protein anchored to the Golgi membrane. It contains a C-terminal transmembrane domain and a SNARE motif that mediates pairing with cognate SNAREs (e.g., GOSR1, BET1L) to drive membrane fusion. STX5 is critical for maintaining Golgi structure and function, and its deficiency leads to glycosylation defects and neurodevelopmental disorders.
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