USO1 Gene: Vesicle Tethering and Golgi Transport
Comprehensive gene card for USO1, a key component of the ER-to-Golgi trafficking machinery.
Gene Information Card
| Symbol | USO1 |
|---|---|
| Full Name | USO1 vesicle tethering factor |
| Gene Type | protein-coding |
| Chromosomal Location | 4q21.21 |
| NCBI Gene ID | 8615 ncbi.nlm.nih.gov/gene/8615 |
| Ensembl ID | ENSG00000138768 |
| UniProt ID | O60763 |
| OMIM ID | 603344 |
| HGNC ID | 12608 |
| Aliases | p115, TAP, VDP |
Description
USO1 (USO1 vesicle tethering factor) encodes a peripheral membrane protein that functions as a vesicle tethering factor in the early secretory pathway. It is essential for the docking and fusion of COPII-coated vesicles with the Golgi apparatus, mediating the first step in ER-to-Golgi transport. The protein forms a homodimer and interacts with Rab1 and the COG complex.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pan-cancer) | Altered USO1 expression may disrupt Golgi trafficking, affecting cell proliferation and migration. | COSMIC: mutations and copy number alterations observed in various cancers. |
| Neurodevelopmental disorders | Rare variants in USO1 have been reported in patients with intellectual disability and microcephaly. | ClinVar: missense and loss-of-function variants associated with developmental delay. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 14.2 | Medium |
| Liver | 12.8 | Medium |
| Kidney | 11.5 | Medium |
| Lung | 10.1 | Medium |
| Heart | 9.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | Cervical adenocarcinoma |
| HEK 293 | 16.2 | Embryonic kidney |
| A549 | 14.0 | Lung carcinoma |
| HepG2 | 13.1 | Hepatocellular carcinoma |
| K562 | 11.8 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | 0.02% (gnomAD) | Unknown functional impact; reported in ClinVar as VUS. |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Predicted loss of function; associated with neurodevelopmental disorder. |
| c.2101G>A (p.Gly701Arg) | Missense | 0.01% (COSMIC) | Recurrent in colorectal cancer; potential gain-of-function. |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants that truncate the protein, impairing vesicle tethering and Golgi transport.
Gain of Function (GOF)
Missense mutations (e.g., p.Gly701Arg) that may enhance tethering activity or alter trafficking dynamics in cancer.
Dominant Negative (DN)
Not well documented; some missense variants may interfere with dimerization and normal function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• ER-to-Golgi vesicle-mediated transport (Reactome: R-HSA-199977)
• COPII-mediated vesicle transport (Reactome: R-HSA-204005)
• Golgi-to-ER retrograde transport (Reactome: R-HSA-6811442)
Protein Summary
USO1 encodes a 962-amino acid protein (p115) that forms a homodimer and acts as a vesicle tethering factor. It contains an N-terminal globular domain, a coiled-coil region, and a C-terminal acidic domain. The protein binds to Rab1-GTP on vesicles and to the COG complex on the Golgi, facilitating SNARE-mediated fusion. It is ubiquitously expressed with highest levels in brain and secretory tissues.
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