USO1

Chr 4

USO1 vesicle transport factor

Also known as: P115, TAP, VDP

NCBI Gene: 8615 ENSG00000138768 UniProt: O60763 OMIM: 603344

The USO1 protein is a vesicular transport factor that regulates intercisternal transport in the Golgi apparatus and promotes targeting of COPII vesicles from the endoplasmic reticulum to the Golgi by forming SNARE complexes. Mutations cause autosomal recessive developmental delay with dysmorphic facies and dental anomalies. This gene is highly constrained against loss-of-function variants (LOEUF = 0.369), suggesting intolerance to complete protein loss.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a peripheral membrane protein which recycles between the cytosol and the Golgi apparatus during interphase. It is regulated by phosphorylation: dephosphorylated protein associates with the Golgi membrane and dissociates from the membrane upon phosphorylation. Ras-associated protein 1 recruits this protein to coat protein complex II (COPII) vesicles during budding from the endoplasmic reticulum, where it interacts with a set of COPII vesicle-associated SNAREs to form a cis-SNARE complex that promotes targeting to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

OMIM ResearchGenerating clinical summary…

LOEUF 0.37

Clinical Summary— USO1

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.23) despite low pLI — interpret in context.

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ClinVar Variants

34 total variants — no pathogenic classifications of 34 total submissions

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.37LOEUF

pLI 0.334

Z-score 5.19

OE 0.23 (0.14–0.37)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

1.28Z-score

OE missense 0.83 (0.76–0.90)

367 obs / 442.8 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.23 (0.14–0.37)

0≤0.351.4

Missense OE?0.83 (0.76–0.90)

0≤0.61.4

Synonymous OE?0.91

0≤1.21.6

LoF obs/exp: 12 / 52.6Missense obs/exp: 367 / 442.8Syn Z: 0.89

ClinVar Variant Classifications

34 submitted variants in ClinVar

ClinVar

Classification Summary

Likely Benign1

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	—	—	—	—	0
Likely Pathogenic	—	—	—	—	0
VUS	—	—	—	—	0
Likely Benign	—	—	—	—	1
Benign	—	—	—	—	0
Total	—				1

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

25 pathogenic / likely-pathogenic (of 31) ClinVar copy-number / structural variants overlap USO1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →