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) ve... See more...

Aliases for USO1 Gene

Aliases for USO1 Gene

  • USO1 Vesicle Transport Factor 2 3 5
  • General Vesicular Transport Factor P115 3 4
  • Transcytosis Associated Protein 2 3
  • TAP 3 4
  • VDP 3 4
  • USO1 Homolog, Vesicle Docking Protein (Yeast) 2
  • USO1 Vesicle Docking Protein Homolog (Yeast) 2
  • USO1 Vesicle Docking Protein Homolog 3
  • Transcytosis-Associated Protein 4
  • Vesicle Docking Protein P115 3
  • Vesicle-Docking Protein 4
  • Vesicle Docking Protein 2
  • Protein USO1 Homolog 4
  • P115 3

External Ids for USO1 Gene

Previous GeneCards Identifiers for USO1 Gene

  • GC04P076868
  • GC04P076649
  • GC04P072397

Summaries for USO1 Gene

Entrez Gene Summary for USO1 Gene

  • 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]

GeneCards Summary for USO1 Gene

USO1 (USO1 Vesicle Transport Factor) is a Protein Coding gene. Diseases associated with USO1 include Autosomal Dominant Non-Syndromic Intellectual Disability 6 and Louping Ill. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include protein transporter activity.

UniProtKB/Swiss-Prot Summary for USO1 Gene

  • General vesicular transport factor required for intercisternal transport in the Golgi stack; it is required for transcytotic fusion and/or subsequent binding of the vesicles to the target membrane. May well act as a vesicular anchor by interacting with the target membrane and holding the vesicular and target membranes in proximity.

Gene Wiki entry for USO1 Gene

Additional gene information for USO1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for USO1 Gene

Genomics for USO1 Gene

GeneHancer (GH) Regulatory Elements for USO1 Gene

Promoters and enhancers for USO1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J075722 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 507.8 +0.6 569 5.8 ZBTB40 EP300 CTCF NRF1 MYC POLR2G USF1 SP1 NCOR1 GTF2E2 USO1 G3BP2 RF00017-4332 lnc-G3BP2-1 NUP54 THAP6 SDAD1 CDKL2 PARM1-AS1 ODAPH
GH04J075671 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 17.5 -51.3 -51328 4.8 ZBTB40 EP300 NRF1 POLR2G SP1 NCOR1 PHF8 POLR2A CLOCK ZBTB11 G3BP2 lnc-CDKL2-2 USO1 CDKL2 NAAA ENSG00000201644
GH04J075701 Enhancer 1.2 Ensembl ENCODE dbSUPER 18.4 -20.1 -20106 5.1 POLR2G NCOR1 TEAD4 SKI TEAD1 ZKSCAN8 HDAC2 ZNF341 TBP SAP130 G3BP2 USO1 CDKL2 ODAPH CCDC158 piR-61945-387 lnc-CDKL2-2
GH04J075682 Enhancer 1 FANTOM5 Ensembl ENCODE dbSUPER 16.6 -39.2 -39221 5.4 TRIM24 TRIM28 ZNF280A CBX5 ZFP36 SETDB1 SPI1 CHAMP1 RUNX3 G3BP2 USO1 ENSG00000229717 RNU2-16P CDKL2 ODAPH RCHY1 lnc-CDKL2-2 piR-61945-387
GH04J075658 Enhancer 0.7 Ensembl ENCODE 16.5 -64.6 -64602 2.6 TRIM28 OSR2 WT1 TCF7L2 FOS SRF HIC1 PRDM6 SPI1 ZNF366 G3BP2 USO1 ENSG00000201644 lnc-CDKL2-1 lnc-CDKL2-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around USO1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for USO1

Top Transcription factor binding sites by QIAGEN in the USO1 gene promoter:
  • AhR
  • AREB6
  • Brachyury
  • E47
  • GATA-1
  • Hand1
  • HFH-1
  • IRF-1
  • RSRFC4
  • TGIF

Genomic Locations for USO1 Gene

Genomic Locations for USO1 Gene
chr4:75,724,522-75,814,289
(GRCh38/hg38)
Size:
89,768 bases
Orientation:
Plus strand
chr4:76,649,777-76,735,382
(GRCh37/hg19)
Size:
85,606 bases
Orientation:
Plus strand

Genomic View for USO1 Gene

Genes around USO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
USO1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for USO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for USO1 Gene

Proteins for USO1 Gene

  • Protein details for USO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60763-USO1_HUMAN
    Recommended name:
    General vesicular transport factor p115
    Protein Accession:
    O60763
    Secondary Accessions:
    • B2RAQ0
    • Q6PK63
    • Q86TB8
    • Q8N592

    Protein attributes for USO1 Gene

    Size:
    962 amino acids
    Molecular mass:
    107895 Da
    Quaternary structure:
    • Homodimer. Dimerizes by parallel association of the tails, resulting in an elongated structure with two globular head domains side by side, and a long rod-like tail structure (Probable). Interacts with MIF.
    SequenceCaution:
    • Sequence=AAH06398.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for USO1 Gene

    Alternative splice isoforms for USO1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for USO1 Gene

Post-translational modifications for USO1 Gene

  • Phosphorylated in a cell cycle-specific manner; phosphorylated in interphase but not in mitotic cells. Dephosphorylated protein associates with the Golgi membrane; phosphorylation promotes dissociation.
  • Ubiquitination at Lys202, Lys580, Lys705, and Lys919
  • Modification sites at PhosphoSitePlus

Other Protein References for USO1 Gene

No data available for DME Specific Peptides for USO1 Gene

Domains & Families for USO1 Gene

Gene Families for USO1 Gene

Protein Domains for USO1 Gene

Blocks:
  • Armadillo repeat
  • Uso1/p115 like vesicle tethering protein, head region
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for USO1 Gene

GenScript: Design optimal peptide antigens:
  • Vesicle-docking protein (USO1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O60763

UniProtKB/Swiss-Prot:

USO1_HUMAN :
  • Composed of a globular head, an elongated tail (coiled-coil) and a highly acidic C-terminal domain.
  • Belongs to the VDP/USO1/EDE1 family.
Domain:
  • Composed of a globular head, an elongated tail (coiled-coil) and a highly acidic C-terminal domain.
Family:
  • Belongs to the VDP/USO1/EDE1 family.
genes like me logo Genes that share domains with USO1: view

Function for USO1 Gene

Molecular function for USO1 Gene

UniProtKB/Swiss-Prot Function:
General vesicular transport factor required for intercisternal transport in the Golgi stack; it is required for transcytotic fusion and/or subsequent binding of the vesicles to the target membrane. May well act as a vesicular anchor by interacting with the target membrane and holding the vesicular and target membranes in proximity.

Phenotypes From GWAS Catalog for USO1 Gene

Gene Ontology (GO) - Molecular Function for USO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI,IEA 25416956
GO:0008565 protein transporter activity IEA --
GO:0045296 cadherin binding HDA 25468996
genes like me logo Genes that share ontologies with USO1: view
genes like me logo Genes that share phenotypes with USO1: view

Animal Model Products

CRISPR Products

miRNA for USO1 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for USO1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for USO1 Gene

Localization for USO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for USO1 Gene

Cytoplasm, cytosol. Golgi apparatus membrane; Peripheral membrane protein. Note=Recycles between the cytosol and the Golgi apparatus during interphase. During interphase, the phosphorylated form is found exclusively in cytosol; the unphosphorylated form is associated with Golgi apparatus membranes. {ECO:0000269 PubMed:19454686, ECO:0000269 PubMed:9478999}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for USO1 gene
Compartment Confidence
nucleus 5
golgi apparatus 5
endoplasmic reticulum 4
cytosol 4
plasma membrane 2
cytoskeleton 2
endosome 2
extracellular 1
mitochondrion 1
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (4)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for USO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0001650 fibrillar center IDA --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IBA 21873635
GO:0005794 Golgi apparatus IEA,IDA --
genes like me logo Genes that share ontologies with USO1: view

Pathways & Interactions for USO1 Gene

genes like me logo Genes that share pathways with USO1: view

Pathways by source for USO1 Gene

SIGNOR curated interactions for USO1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for USO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IEA --
GO:0006888 ER to Golgi vesicle-mediated transport IEA,TAS --
GO:0007030 Golgi organization IEA --
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with USO1: view

Drugs & Compounds for USO1 Gene

(2) Drugs for USO1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with USO1: view

Transcripts for USO1 Gene

mRNA/cDNA for USO1 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for USO1

Alternative Splicing Database (ASD) splice patterns (SP) for USO1 Gene

No ASD Table

Relevant External Links for USO1 Gene

GeneLoc Exon Structure for
USO1

Expression for USO1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for USO1 Gene

mRNA differential expression in normal tissues according to GTEx for USO1 Gene

This gene is overexpressed in Muscle - Skeletal (x7.2).

Protein differential expression in normal tissues from HIPED for USO1 Gene

This gene is overexpressed in Nasal epithelium (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for USO1 Gene



Protein tissue co-expression partners for USO1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for USO1

SOURCE GeneReport for Unigene cluster for USO1 Gene:

Hs.744877

Evidence on tissue expression from TISSUES for USO1 Gene

  • Muscle(4.6)
  • Liver(4.5)
  • Nervous system(4.3)
  • Heart(2.8)
  • Blood(2.3)
  • Eye(2.1)
  • Skin(2)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with USO1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for USO1 Gene

Orthologs for USO1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for USO1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia USO1 31 30
  • 99.76 (n)
OneToOne
cow
(Bos Taurus)
Mammalia USO1 31 30
  • 93.02 (n)
OneToOne
dog
(Canis familiaris)
Mammalia USO1 31 30
  • 92.64 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Uso1 17 31 30
  • 86.65 (n)
rat
(Rattus norvegicus)
Mammalia Uso1 30
  • 86.65 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia USO1 31
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia USO1 31
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves USO1 31 30
  • 72.31 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia USO1 31
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia uso1 30
  • 72.97 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.29972 30
zebrafish
(Danio rerio)
Actinopterygii USO1 (2 of 2) 31
  • 75 (a)
OneToMany
uso1 31
  • 71 (a)
OneToMany
LOC100334773 30
  • 70.09 (n)
zgc55298 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9145 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009840 30
  • 52.89 (n)
fruit fly
(Drosophila melanogaster)
Insecta p115 31 30
  • 52.87 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea uso-1 31 30
  • 47.54 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER045C 30
  • 43.83 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E05281g 30
  • 42.3 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes USO1 33 31 30
  • 42.11 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01644 30
  • 40.75 (n)
sea squirt
(Ciona savignyi)
Ascidiacea Cin.4156 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4156 30
Species where no ortholog for USO1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for USO1 Gene

ENSEMBL:
Gene Tree for USO1 (if available)
TreeFam:
Gene Tree for USO1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for USO1: view image

Paralogs for USO1 Gene

No data available for Paralogs for USO1 Gene

Variants for USO1 Gene

Additional dbSNP identifiers (rs#s) for USO1 Gene

Structural Variations from Database of Genomic Variants (DGV) for USO1 Gene

Variant ID Type Subtype PubMed ID
esv2657151 CNV deletion 23128226
esv3601034 CNV loss 21293372
esv990235 CNV insertion 20482838
nsv4392 CNV insertion 18451855
nsv474585 CNV novel sequence insertion 20440878
nsv480082 CNV novel sequence insertion 20440878
nsv509008 CNV insertion 20534489
nsv7363 OTHER inversion 18451855

Variation tolerance for USO1 Gene

Gene Damage Index Score: 1.93; 35.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for USO1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
USO1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for USO1 Gene

Disorders for USO1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for USO1 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search USO1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for USO1

genes like me logo Genes that share disorders with USO1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for USO1 Gene

Publications for USO1 Gene

  1. Phosphorylation of the vesicle docking protein p115 regulates its association with the Golgi membrane. (PMID: 9478999) Sohda M … Ikehara Y (The Journal of biological chemistry 1998) 2 3 4 23 54
  2. Gene replacement reveals that p115/SNARE interactions are essential for Golgi biogenesis. (PMID: 14736916) Puthenveedu MA … Linstedt AD (Proceedings of the National Academy of Sciences of the United States of America 2004) 2 3 23 54
  3. Nuclear import is required for the pro-apoptotic function of the Golgi protein p115. (PMID: 19028683) Mukherjee S … Shields D (The Journal of biological chemistry 2009) 3 23 54
  4. The Golgi-associated protein p115 mediates the secretion of macrophage migration inhibitory factor. (PMID: 19454686) Merk M … Bucala R (Journal of immunology (Baltimore, Md. : 1950) 2009) 3 4 54
  5. Unusual armadillo fold in the human general vesicular transport factor p115. (PMID: 19247479) Striegl H … Heinemann U (PloS one 2009) 3 4 54

Products for USO1 Gene

  • Signalway ELISA kits for USO1
  • Signalway Proteins for USO1

Sources for USO1 Gene