Aliases for USE1 Gene

Aliases for USE1 Gene

  • Unconventional SNARE In The ER 1 2 3 5
  • P31 2 3 4
  • Vesicle Transport Protein USE1 3 4
  • USE1-Like Protein 3 4
  • Q-SNARE 2 3
  • MDS032 2 3
  • SLT1 2 3
  • D12 2 3
  • SNARE-Like Tail-Anchored Protein 1 Homolog (S. Cerevisiae) 2
  • Unconventional SNARE In The ER 1 Homolog (S. Cerevisiae) 2
  • SNARE-Like Tail-Anchored Protein 1 Homolog 3
  • Unconventional SNARE In The ER 1 Homolog 3
  • Putative MAPK Activating Protein PM26 3
  • Putative MAPK-Activating Protein PM26 4
  • Protein P31 3
  • USE1L 4
  • USE1 5

External Ids for USE1 Gene

Previous GeneCards Identifiers for USE1 Gene

  • GC19P017188
  • GC19P017326
  • GC19P016893
  • GC19P017270
  • GC19P017683
  • GC19P020460
  • GC19P020603
  • GC19P020713
  • GC19P022223
  • GC19P017709
  • GC19P018279
  • GC19P018681
  • GC19P018985
  • GC19P019310
  • GC19P019645
  • GC19P020002
  • GC19P020318

Summaries for USE1 Gene

GeneCards Summary for USE1 Gene

USE1 (Unconventional SNARE In The ER 1) is a Protein Coding gene. Diseases associated with USE1 include Anteroseptal Myocardial Infarction and Childhood Malignant Schwannoma. Among its related pathways are Golgi-to-ER retrograde transport and Vesicle-mediated transport.

UniProtKB/Swiss-Prot Summary for USE1 Gene

  • SNARE that may be involved in targeting and fusion of Golgi-derived retrograde transport vesicles with the ER.

Gene Wiki entry for USE1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for USE1 Gene

Genomics for USE1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for USE1 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
GH19J017214 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 607.4 +0.2 156 2.2 SP1 HNRNPL GATAD2A PRDM10 REST ZNF629 SIX5 IKZF1 NFKBIZ ZNF692 USE1 lnc-NR2F6-5 OCEL1 IL12RB1 lnc-NR2F6-1 MYO9B
GH19J017224 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 5.4 +11.1 11051 3.6 SP1 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 TFE3 ZNF692 POLR2A BACH1 OCEL1 NONHSAG025074.2 USE1 ANKLE1 NR2F6
GH19J017172 Enhancer 0.9 Ensembl ENCODE dbSUPER 13.2 -41.9 -41867 1 JUND CEBPB FOS POLR2A STAT1 CTCF ATF3 KDM1A OCEL1 USE1 NR2F6 CPAMD8 ENSG00000269836 ENSG00000268056 MYO9B
GH19J017467 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 4.7 +254.5 254508 4.7 ARHGAP35 SP1 PRDM10 ZNF512 RFX1 LEF1 IKZF1 ZNF692 RCOR2 BACH1 SLC27A1 NXNL1 CHERP MED26 ENSG00000268087 HAUS8 ENSG00000269578 IQCN GTPBP3 ENSG00000268743
GH19J017180 Enhancer 0.6 Ensembl ENCODE 13.2 -34.1 -34149 1.1 ZNF316 MAFK SIN3A SP1 OCEL1 USE1 HAUS8 ENSG00000269836 MN297571 MYO9B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around USE1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for USE1

Top Transcription factor binding sites by QIAGEN in the USE1 gene promoter:
  • AML1a
  • AREB6
  • CREB
  • deltaCREB
  • Nkx2-5
  • NRF-2
  • NRSF form 1
  • NRSF form 2
  • Pax-5

Genomic Locations for USE1 Gene

Genomic Locations for USE1 Gene
chr19:17,215,346-17,219,831
(GRCh38/hg38)
Size:
4,486 bases
Orientation:
Plus strand
chr19:17,326,155-17,330,638
(GRCh37/hg19)
Size:
4,484 bases
Orientation:
Plus strand

Genomic View for USE1 Gene

Genes around USE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
USE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for USE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for USE1 Gene

Proteins for USE1 Gene

  • Protein details for USE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZ43-USE1_HUMAN
    Recommended name:
    Vesicle transport protein USE1
    Protein Accession:
    Q9NZ43
    Secondary Accessions:
    • Q8NCK1
    • Q9BRT4

    Protein attributes for USE1 Gene

    Size:
    259 amino acids
    Molecular mass:
    29371 Da
    Quaternary structure:
    • Component of a SNARE complex consisting of STX18, USE1L, BNIP1/SEC20L and SEC22B. Interacts directly with STX18.

    Alternative splice isoforms for USE1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for USE1 Gene

Post-translational modifications for USE1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for USE1
  • Santa Cruz Biotechnology (SCBT) Antibodies for USE1

No data available for DME Specific Peptides for USE1 Gene

Domains & Families for USE1 Gene

Gene Families for USE1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for USE1 Gene

Suggested Antigen Peptide Sequences for USE1 Gene

GenScript: Design optimal peptide antigens:
  • p31 (USE1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NZ43

UniProtKB/Swiss-Prot:

USE1_HUMAN :
  • Belongs to the USE1 family.
Family:
  • Belongs to the USE1 family.
genes like me logo Genes that share domains with USE1: view

Function for USE1 Gene

Molecular function for USE1 Gene

UniProtKB/Swiss-Prot Function:
SNARE that may be involved in targeting and fusion of Golgi-derived retrograde transport vesicles with the ER.

Phenotypes From GWAS Catalog for USE1 Gene

Gene Ontology (GO) - Molecular Function for USE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15029241
genes like me logo Genes that share ontologies with USE1: view
genes like me logo Genes that share phenotypes with USE1: view

Animal Models for USE1 Gene

MGI Knock Outs for USE1:
  • Use1 Use1<tm1.2Aha>

Animal Model Products

CRISPR Products

miRNA for USE1 Gene

miRTarBase miRNAs that target USE1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for USE1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for USE1 Gene

Localization for USE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for USE1 Gene

Endoplasmic reticulum membrane. Single-pass type IV membrane protein.

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 USE1 gene
Compartment Confidence
endoplasmic reticulum 4
plasma membrane 3
nucleus 3
golgi apparatus 3
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 2
cytosol 2
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for USE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 NOT lysosome ISS 16354670
GO:0005783 endoplasmic reticulum IDA 15029241
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005794 Golgi apparatus IEA --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with USE1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for USE1 Gene

Pathways & Interactions for USE1 Gene

genes like me logo Genes that share pathways with USE1: view

Gene Ontology (GO) - Biological Process for USE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006888 NOT ER to Golgi vesicle-mediated transport ISS 16354670
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER TAS --
GO:0007041 lysosomal transport ISS 16354670
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA --
genes like me logo Genes that share ontologies with USE1: view

No data available for SIGNOR curated interactions for USE1 Gene

Drugs & Compounds for USE1 Gene

No Compound Related Data Available

Transcripts for USE1 Gene

mRNA/cDNA for USE1 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
10 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 USE1

Alternative Splicing Database (ASD) splice patterns (SP) for USE1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8
SP1: -
SP2: - -
SP3: -
SP4:
SP5:

Relevant External Links for USE1 Gene

GeneLoc Exon Structure for
USE1

Expression for USE1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for USE1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for USE1 Gene

This gene is overexpressed in Bone (36.4) and Peripheral blood mononuclear cells (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for USE1 Gene



Protein tissue co-expression partners for USE1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for USE1

SOURCE GeneReport for Unigene cluster for USE1 Gene:

Hs.16187

Evidence on tissue expression from TISSUES for USE1 Gene

  • Nervous system(4.7)
  • Muscle(4.5)
  • Lung(4.4)
  • Skin(2.9)
  • Liver(2.9)
  • Intestine(2.7)
  • Blood(2.6)
  • Heart(2.4)
  • Kidney(2.4)
  • Spleen(2.3)
  • Lymph node(2.3)
  • Pancreas(2.2)
  • Stomach(2.1)
  • Eye(2)
  • Bone marrow(2)
genes like me logo Genes that share expression patterns with USE1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for USE1 Gene

Orthologs for USE1 Gene

This gene was present in the common ancestor of animals.

Orthologs for USE1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia USE1 30 31
  • 99.49 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia -- 31
  • 92 (a)
OneToMany
USE1 30 31
  • 88.29 (n)
OneToMany
Dog
(Canis familiaris)
Mammalia USE1 30 31
  • 88.67 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 85 (a)
OneToMany
-- 31
  • 51 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Use1 30 17 31
  • 82.43 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Use1 30
  • 82.43 (n)
Oppossum
(Monodelphis domestica)
Mammalia USE1 31
  • 70 (a)
OneToOne
Chicken
(Gallus gallus)
Aves USE1 31
  • 59 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia USE1 31
  • 78 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia use1 30
  • 66.41 (n)
Str.5446 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.10235 30
Zebrafish
(Danio rerio)
Actinopterygii use1 30 31
  • 65.36 (n)
OneToOne
zgc56402 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9046 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005893 30
  • 50.93 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Use1 30 31
  • 46.01 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea use-1 31
  • 25 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7185 31
  • 39 (a)
OneToOne
Species where no ortholog for USE1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • 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)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • 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 Vase (Ciona intestinalis)
  • 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 USE1 Gene

ENSEMBL:
Gene Tree for USE1 (if available)
TreeFam:
Gene Tree for USE1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for USE1: view image

Paralogs for USE1 Gene

Pseudogenes.org Pseudogenes for USE1 Gene

genes like me logo Genes that share paralogs with USE1: view

No data available for Paralogs for USE1 Gene

Variants for USE1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for USE1 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs414528 - p.Leu154Ser

Additional dbSNP identifiers (rs#s) for USE1 Gene

Structural Variations from Database of Genomic Variants (DGV) for USE1 Gene

Variant ID Type Subtype PubMed ID
nsv458373 CNV loss 19166990
nsv470129 CNV loss 18288195
nsv578739 CNV loss 21841781

Variation tolerance for USE1 Gene

Residual Variation Intolerance Score: 34.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.01; 36.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for USE1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
USE1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for USE1 Gene

Disorders for USE1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for USE1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
anteroseptal myocardial infarction
childhood malignant schwannoma
  • pediatric mpnst
adermatoglyphia
  • aderm
- elite association - COSMIC cancer census association via MalaCards
Search USE1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with USE1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for USE1 Gene

Publications for USE1 Gene

  1. Implication of ZW10 in membrane trafficking between the endoplasmic reticulum and Golgi. (PMID: 15029241) Hirose H … Tagaya M (The EMBO journal 2004) 2 3 4
  2. Involvement of a novel Q-SNARE, D12, in quality control of the endomembrane system. (PMID: 16354670) Okumura AJ … Wada I (The Journal of biological chemistry 2006) 2 3
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Involvement of BNIP1 in apoptosis and endoplasmic reticulum membrane fusion. (PMID: 15272311) Nakajima K … Tagaya M (The EMBO journal 2004) 3 4

Products for USE1 Gene

  • Signalway Proteins for USE1

Sources for USE1 Gene