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Aliases for UVRAG Gene

Aliases for UVRAG Gene

  • UV Radiation Resistance Associated 2 3
  • Beclin 1 Binding Protein 2 3
  • P63 3 4
  • UV Radiation Resistance Associated Gene 2
  • Disrupted In Heterotaxy 3
  • VPS38 3
  • DHTX 3

External Ids for UVRAG Gene

Previous GeneCards Identifiers for UVRAG Gene

  • GC11P077853
  • GC11P077065
  • GC11P075748
  • GC11P075252
  • GC11P075203
  • GC11P075526
  • GC11P071822

Summaries for UVRAG Gene

Entrez Gene Summary for UVRAG Gene

  • This gene complements the ultraviolet sensitivity of xeroderma pigmentosum group C cells and encodes a protein with a C2 domain. The protein activates the Beclin1-PI(3)KC3 complex, promoting autophagy and suppressing the proliferation and tumorigenicity of human colon cancer cells. Chromosomal aberrations involving this gene are associated with left-right axis malformation and mutations in this gene have been associated with colon cancer. [provided by RefSeq, Jul 2008]

GeneCards Summary for UVRAG Gene

UVRAG (UV Radiation Resistance Associated) is a Protein Coding gene. Diseases associated with UVRAG include xeroderma pigmentosum, group c. Among its related pathways are DNA Damage and Cellular Senescence. GO annotations related to this gene include SH3 domain binding and SNARE binding.

UniProtKB/Swiss-Prot for UVRAG Gene

  • Versatile protein that is involved in regulation of differenent cellular pathways implicated in membrane trafficking. Involved in regulation of the COPI-dependent retrograde transport from Golgi and the endoplasmic reticulum by associating with the NRZ complex; the function is dependent on its binding to phosphatidylinositol 3-phosphate (PtdIns(3)P) (PubMed:24056303). During autophagy acts as regulatory subunit of the alternative PI3K complex II (PI3KC3-C2) that mediates formation of phosphatidylinositol 3-phosphate and is believed to be involved in maturation of autophagosomes and endocytosis. Activates lipid kinase activity of PIK3C3. Involved in the regulation of degradative endocytic trafficking and cytokinesis, and in regulation of ATG9A transport from the Golgi to the autophagosome; the functions seems to implicate its association with PI3KC3-C2 (PubMed:16799551, PubMed:20643123, PubMed:24056303). Involved in maturation of autophagosomes and degradative endocytic trafficking independently of BECN1 but depending on its association with a class C Vps complex (possibly the HOPS complex); the association is also proposed to promote autophagosome recruitment and activation of Rab7 and endosome-endosome fusion events (PubMed:18552835). Enhances class C Vps complex (possibly HOPS complex) association with a SNARE complex and promotes fusogenic SNARE complex formation during late endocytic membrane fusion (PubMed:24550300). In case of negative-strand RNA virus infection is required for efficient virus entry, promotes endocytic transport of virions and is implicated in a VAMP8-specific fusogenic SNARE complex assembly (PubMed:24550300).

  • Involved in maintaining chromosomal stability. Promotes DNA double-strand break (DSB) repair by association with DNA-dependent protein kinase complex DNA-PK and activating it in non-homologous end joining (NHEJ) (PubMed:22542840). Required for centrosome stability and proper chromosome segregation (PubMed:22542840).

Gene Wiki entry for UVRAG Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UVRAG Gene

Genomics for UVRAG Gene

Regulatory Elements for UVRAG Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for UVRAG Gene

Chromosome:
11
Start:
75,815,167 bp from pter
End:
76,144,238 bp from pter
Size:
329,072 bases
Orientation:
Plus strand

Genomic View for UVRAG Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for UVRAG Gene

Proteins for UVRAG Gene

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

    Protein Symbol:
    Q9P2Y5-UVRAG_HUMAN
    Recommended name:
    UV radiation resistance-associated gene protein
    Protein Accession:
    Q9P2Y5
    Secondary Accessions:
    • B3KTC1
    • O00392

    Protein attributes for UVRAG Gene

    Size:
    699 amino acids
    Molecular mass:
    78151 Da
    Quaternary structure:
    • Component of the PI3K (PI3KC3/PI3K-III/class III phosphatidylinositol 3-kinase) complex II (PI3KC3-C2) in which the core composed of the catalytic subunit PIK3C3, the regulatory subunit PIK3R4 and BECN1 is associated with UVRAG; in the complex interacts directly with BECN1. PI3KC3-C2 can associate with further regulatory subunits such as KIAA0226/Rubicon and probably SH3GLB1/Bif-1 (PubMed:16799551, PubMed:18843052, PubMed:19050071, PubMed:19270696, PubMed:20643123, PubMed:23878393, PubMed:24056303). Interacts with SH3GLB1; UVRAG bridges the interaction to BECN1 indicative for an association with the PI3K complex PI3KC3-C2 (PubMed:17891140). Interacts with RINT1. Associates with the NRZ complex under basal conditions and dissociates from it under autophagy conditions to associate with the PI3K complex; these complex associations seem to be mutually exclusive (PubMed:24056303). Interacts with VPS16; VPS11; VPS18; VPS33 (VPS33A or VPS33B) and VPS39; indicative for an association with a class C Vps tethering complex (possibly the HOPS complex) (PubMed:18552835, PubMed:25533187). Interacts with RAB7A; RAB7A competes with UVRAG for KIAA0226/Rubicon binding (PubMed:25533187, PubMed:20974968). Interacts with STX7, VTI1B, STX8 (PubMed:24550300). Interacts with PRKDC, XRCC6 and XRCC5; indicative for an association with the DNA-dependent protein kinase complex DNA-PK. Interacts with CEP63 (PubMed:22542840). Directly interacts with FEZ1 and SCOC; the interaction with SCOC is reduced by amino acid starvation, but the complex is stabilized in the presence of FEZ1 (PubMed:22354037). Interacts with BECN1P1/BECN2 (PubMed:23954414). Interracts with SLAMF1( PubMed:22493499).
    SequenceCaution:
    • Sequence=CAA67507.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for UVRAG Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UVRAG Gene

Proteomics data for UVRAG Gene at MOPED

Post-translational modifications for UVRAG Gene

  • Phosphorylated at Ser-498 by MTOR under basal conditions; increases the interaction with KIAA0226/Rubicon implicated in inhibitory effect of KIAA0226/Rubicon on PI3KC3 and decreases interaction with RAB7,A and VPS16 and VPS39 (indicative for a class C Vps complex, possibly the HOPS complex) (PubMed:25533187).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for UVRAG Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for UVRAG (UVRAG)

No data available for DME Specific Peptides for UVRAG Gene

Domains & Families for UVRAG Gene

Gene Families for UVRAG Gene

Protein Domains for UVRAG Gene

Graphical View of Domain Structure for InterPro Entry

Q9P2Y5

UniProtKB/Swiss-Prot:

UVRAG_HUMAN :
  • Contains 1 C2 domain.
Domain:
  • Contains 1 C2 domain.
genes like me logo Genes that share domains with UVRAG: view

Function for UVRAG Gene

Molecular function for UVRAG Gene

GENATLAS Biochemistry:
UV radiation resistance-associated gene
UniProtKB/Swiss-Prot Function:
Versatile protein that is involved in regulation of differenent cellular pathways implicated in membrane trafficking. Involved in regulation of the COPI-dependent retrograde transport from Golgi and the endoplasmic reticulum by associating with the NRZ complex; the function is dependent on its binding to phosphatidylinositol 3-phosphate (PtdIns(3)P) (PubMed:24056303). During autophagy acts as regulatory subunit of the alternative PI3K complex II (PI3KC3-C2) that mediates formation of phosphatidylinositol 3-phosphate and is believed to be involved in maturation of autophagosomes and endocytosis. Activates lipid kinase activity of PIK3C3. Involved in the regulation of degradative endocytic trafficking and cytokinesis, and in regulation of ATG9A transport from the Golgi to the autophagosome; the functions seems to implicate its association with PI3KC3-C2 (PubMed:16799551, PubMed:20643123, PubMed:24056303). Involved in maturation of autophagosomes and degradative endocytic trafficking independently of BECN1 but depending on its association with a class C Vps complex (possibly the HOPS complex); the association is also proposed to promote autophagosome recruitment and activation of Rab7 and endosome-endosome fusion events (PubMed:18552835). Enhances class C Vps complex (possibly HOPS complex) association with a SNARE complex and promotes fusogenic SNARE complex formation during late endocytic membrane fusion (PubMed:24550300). In case of negative-strand RNA virus infection is required for efficient virus entry, promotes endocytic transport of virions and is implicated in a VAMP8-specific fusogenic SNARE complex assembly (PubMed:24550300).
UniProtKB/Swiss-Prot Function:
Involved in maintaining chromosomal stability. Promotes DNA double-strand break (DSB) repair by association with DNA-dependent protein kinase complex DNA-PK and activating it in non-homologous end joining (NHEJ) (PubMed:22542840). Required for centrosome stability and proper chromosome segregation (PubMed:22542840).

Gene Ontology (GO) - Molecular Function for UVRAG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000149 SNARE binding IBA --
GO:0005515 protein binding IPI 17891140
GO:0017124 SH3 domain binding IEA --
genes like me logo Genes that share ontologies with UVRAG: view
genes like me logo Genes that share phenotypes with UVRAG: view

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for UVRAG

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for UVRAG Gene

Localization for UVRAG Gene

Subcellular locations from UniProtKB/Swiss-Prot for UVRAG Gene

Late endosome. Lysosome. Early endosome. Endoplasmic reticulum. Midbody. Chromosome, centromere. Note=Colocalizes with RAB9-positive compartments involved in retrograde transport from late endosomes to trans-Golgi network. Colocalization with early endosomes is only partial.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UVRAG Gene COMPARTMENTS Subcellular localization image for UVRAG gene
Compartment Confidence
cytoskeleton 5
endosome 5
lysosome 5
vacuole 5
endoplasmic reticulum 4

Gene Ontology (GO) - Cellular Components for UVRAG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region IEA --
GO:0005737 cytoplasm TAS 9169138
GO:0005764 lysosome IDA 19270696
GO:0005769 early endosome IDA 19270696
GO:0005770 late endosome IDA 19270696
genes like me logo Genes that share ontologies with UVRAG: view

Pathways & Interactions for UVRAG Gene

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

Pathways by source for UVRAG Gene

1 Cell Signaling Technology pathway for UVRAG Gene
1 BioSystems pathway for UVRAG Gene
2 Reactome pathways for UVRAG Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

SIGNOR curated interactions for UVRAG Gene

Activates:

Gene Ontology (GO) - Biological Process for UVRAG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IMP 22542840
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER IMP 24056303
GO:0006914 autophagy IMP 24056303
GO:0007051 spindle organization IEA --
GO:0007059 chromosome segregation IEA --
genes like me logo Genes that share ontologies with UVRAG: view

Drugs & Compounds for UVRAG Gene

No Compound Related Data Available

Transcripts for UVRAG Gene

Unigene Clusters for UVRAG Gene

UV radiation resistance associated:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for UVRAG

Flow Cytometry Products

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

No ASD Table

Relevant External Links for UVRAG Gene

GeneLoc Exon Structure for
UVRAG
ECgene alternative splicing isoforms for
UVRAG

Expression for UVRAG Gene

mRNA expression in normal human tissues for UVRAG Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UVRAG Gene

This gene is overexpressed in Peripheral blood mononuclear cells (17.4), Lymph node (11.1), Gallbladder (6.2), and Blymphocyte (6.2).

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



SOURCE GeneReport for Unigene cluster for UVRAG Gene Hs.202470

mRNA Expression by UniProt/SwissProt for UVRAG Gene

Q9P2Y5-UVRAG_HUMAN
Tissue specificity: Highly expressed in brain, lung, kidney and liver.
genes like me logo Genes that share expression patterns with UVRAG: view

Protein tissue co-expression partners for UVRAG Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for UVRAG Gene

Orthologs for UVRAG Gene

This gene was present in the common ancestor of animals.

Orthologs for UVRAG Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia UVRAG 35
  • 91.46 (n)
  • 93.56 (a)
UVRAG 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UVRAG 35
  • 91.6 (n)
  • 95.26 (a)
UVRAG 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Uvrag 35
  • 85.69 (n)
  • 89.15 (a)
Uvrag 16
Uvrag 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia UVRAG 35
  • 99.48 (n)
  • 99.71 (a)
UVRAG 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Uvrag 35
  • 88.91 (n)
  • 94.99 (a)
oppossum
(Monodelphis domestica)
Mammalia UVRAG 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UVRAG 36
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves UVRAG 35
  • 77.12 (n)
  • 81.72 (a)
UVRAG 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UVRAG 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.13743 35
uvrag 35
  • 69.74 (n)
  • 74.5 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
uvrag 35
  • 62.58 (n)
  • 63.56 (a)
uvrag 36
  • 61 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Uvrag 36
  • 21 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 27 (a)
OneToOne
Species with no ortholog for UVRAG:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for UVRAG Gene

ENSEMBL:
Gene Tree for UVRAG (if available)
TreeFam:
Gene Tree for UVRAG (if available)

Paralogs for UVRAG Gene

No data available for Paralogs for UVRAG Gene

Variants for UVRAG Gene

Sequence variations from dbSNP and Humsavar for UVRAG Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs167757 -- 76,003,252(-) TCAGT(A/T)TTTTC intron-variant
rs170457 -- 76,017,481(+) acaca(A/C)aattt intron-variant
rs323632 -- 76,037,538(-) ttttg(G/T)aaaga intron-variant
rs323633 -- 76,034,156(-) GGATA(C/G)TACAA intron-variant
rs323634 -- 76,031,592(-) CATTA(C/T)ATTAC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv897924 CNV Gain 21882294
nsv897925 CNV Gain 21882294
nsv832212 CNV Gain 17160897
esv27673 CNV Loss 19812545
nsv515973 CNV Gain 19592680
nsv394 CNV Loss 18451855
nsv515484 CNV Loss 19592680

Variation tolerance for UVRAG Gene

Residual Variation Intolerance Score: 21.27% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.92; 79.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UVRAG Gene

HapMap Linkage Disequilibrium report
UVRAG

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

Disorders for UVRAG Gene

MalaCards: The human disease database

(1) MalaCards diseases for UVRAG Gene - From: GeneCards

Disorder Aliases PubMed IDs
xeroderma pigmentosum, group c
  • xeroderma pigmentosum, type 3
- elite association
Search UVRAG in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

UVRAG_HUMAN
  • Note=A chromosomal aberration involving UVRAG has been observed in a patient with heterotaxy (left-right axis malformation). Inversion Inv(11)(q13.5;q25).

Relevant External Links for UVRAG

Genetic Association Database (GAD)
UVRAG
Human Genome Epidemiology (HuGE) Navigator
UVRAG
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UVRAG
genes like me logo Genes that share disorders with UVRAG: view

No data available for Genatlas for UVRAG Gene

Publications for UVRAG Gene

  1. mTOR regulates autophagy-associated genes downstream of p73. (PMID: 19001857) Rosenbluth J.M. … Pietenpol J.A. (Autophagy 2009) 23 67
  2. Beclin 1 forms two distinct phosphatidylinositol 3-kinase complexes with mammalian Atg14 and UVRAG. (PMID: 18843052) Itakura E. … Mizushima N. (Mol. Biol. Cell 2008) 2 67
  3. Autophagic and tumour suppressor activity of a novel Beclin1-binding protein UVRAG. (PMID: 16799551) Liang C. … Jung J.U. (Nat. Cell Biol. 2006) 2 67
  4. Identification of a gene disrupted by inv(11)(q13.5;q25) in a patient with left-right axis malformation. (PMID: 10798355) Iida A. … Nakamura Y. (Hum. Genet. 2000) 23 67
  5. Molecular cloning of a novel human gene encoding a 63-kDa protein and its sublocalization within the 11q13 locus. (PMID: 9169138) Perelman B. … Canaani D. (Genomics 1997) 2 67

Products for UVRAG Gene

Sources for UVRAG Gene

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