SYS1 Golgi Trafficking Protein
Key regulator of Golgi membrane trafficking and protein sorting
Gene Information Card
| Symbol | SYS1 |
|---|---|
| Full Name | SYS1 Golgi Trafficking Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.12 |
| NCBI Gene ID | 90196 ncbi.nlm.nih.gov/gene/90196 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q8N2H4 |
| OMIM ID | 614563 |
| HGNC ID | 28363 |
| Aliases | SYS1_ARATH homolog, SYS1-like, SYS1L |
Description
SYS1 encodes a Golgi-localized transmembrane protein involved in vesicular trafficking and protein sorting within the Golgi apparatus. It is essential for maintaining Golgi structure and function, and plays a role in the transport of proteins from the Golgi to the plasma membrane. The protein is conserved across eukaryotes, with homologs in yeast (SYS1) and plants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No curated evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Liver | 10.3 | Medium |
| Testis | 8.7 | Low |
| Brain | 6.2 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 11.8 | Medium expression |
| HepG2 | 9.4 | Medium expression |
| K562 | 6.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | No functional data |
| c.100C>T | Synonymous | <0.01% | No functional data |
Mutation functional classification
Loss of Function (LOF)
Not characterized in human disease
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • Golgi membrane | • protein transport |
| • vesicle-mediated transport | • Golgi vesicle budding |
| • intracellular protein transport |
Pathways
• Golgi-to-ER retrograde transport
• Vesicle-mediated transport
Protein Summary
SYS1 is a small transmembrane protein (approximately 15 kDa) localized to the Golgi apparatus. It contains a single transmembrane domain and is involved in the recruitment of ARF-like GTPases and other trafficking factors. The protein is essential for Golgi integrity and proper protein sorting.
Related Services
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| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
