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    UVRAG UV radiation resistance associated [ Homo sapiens (human) ]

    Gene ID: 7405, updated on 23-May-2018
    Official Symbol
    UVRAGprovided by HGNC
    Official Full Name
    UV radiation resistance associatedprovided by HGNC
    Primary source
    HGNC:HGNC:12640
    See related
    Ensembl:ENSG00000198382 MIM:602493; Vega:OTTHUMG00000165319
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    p63; DHTX; VPS38
    Summary
    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]
    Expression
    Ubiquitous expression in fat (RPKM 5.6), lymph node (RPKM 3.6) and 24 other tissues See more
    Orthologs
    See UVRAG in Genome Data Viewer
    Location:
    11q13.5
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (75815167..76144238)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (75526212..75855282)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene diacylglycerol O-acyltransferase 2 Neighboring gene uncharacterized LOC100506113 Neighboring gene protein phosphatase 1 regulatory inhibitor subunit 1A pseudogene 1 Neighboring gene RNA, 5S ribosomal pseudogene 344 Neighboring gene VISTA enhancer hs1435 Neighboring gene uncharacterized LOC112268079 Neighboring gene uncharacterized LOC107984359 Neighboring gene Wnt family member 11

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Replication interactions

    Interaction Pubs
    Exposure of macrophages to infectious or AT-2 inactivated HIV-1 increases expression of the TFEB targets ATG9B, UVRAG (both autophagy genes) and MCOLN1 (a lysosomal gene) at 24 hours post-exposure. PubMed

    Go to the HIV-1, Human Interaction Database

    • Autophagy - animal, organism-specific biosystem (from KEGG)
      Autophagy - animal, organism-specific biosystemAutophagy (or macroautophagy) is a cellular catabolic pathway involving in protein degradation, organelle turnover, and non-selective breakdown of cytoplasmic components, which is evolutionarily cons...
    • Autophagy - animal, conserved biosystem (from KEGG)
      Autophagy - animal, conserved biosystemAutophagy (or macroautophagy) is a cellular catabolic pathway involving in protein degradation, organelle turnover, and non-selective breakdown of cytoplasmic components, which is evolutionarily cons...
    • Cellular responses to stress, organism-specific biosystem (from REACTOME)
      Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
    • Macroautophagy, organism-specific biosystem (from REACTOME)
      Macroautophagy, organism-specific biosystemMacroautophagy (hereafter referred to as autophagy) acts as a buffer against starvation by liberating building materials and energy sources from cellular components. It has additional roles in embryo...
    • Nanoparticle triggered autophagic cell death, organism-specific biosystem (from WikiPathways)
      Nanoparticle triggered autophagic cell death, organism-specific biosystemProgrammed cell death: autophagic cell death. Autophagy (self-eating) is a survival mechanism deployed by cells to cope with conditions of nutrient deprivation. However, unrestrained autophagy can re...
    • Senescence and Autophagy in Cancer, organism-specific biosystem (from WikiPathways)
      Senescence and Autophagy in Cancer, organism-specific biosystemSenescense and Autophagy Pathways in Cancer
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    SNARE binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    SNARE complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    autophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    centrosome cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    chromosome segregation IEA
    Inferred from Electronic Annotation
    more info
     
    double-strand break repair via classical nonhomologous end joining IDA
    Inferred from Direct Assay
    more info
    PubMed 
    maintenance of Golgi location IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    multivesicular body sorting pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of autophagosome maturation TAS
    Traceable Author Statement
    more info
    PubMed 
    receptor catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cytokinesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    retrograde vesicle-mediated transport, Golgi to ER IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    spindle organization IEA
    Inferred from Electronic Annotation
    more info
     
    viral entry into host cell IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    colocalizes_with DNA-dependent protein kinase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with HOPS complex TAS
    Traceable Author Statement
    more info
    PubMed 
    centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromosome, centromeric region IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    late endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lytic vacuole IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    midbody IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phagocytic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    UV radiation resistance-associated gene protein
    Names
    beclin 1 binding protein
    disrupted in heterotaxy

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_046930.1 RefSeqGene

      Range
      5001..334072
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003369.3NP_003360.2  UV radiation resistance-associated gene protein

      See identical proteins and their annotated locations for NP_003360.2

      Status: REVIEWED

      Source sequence(s)
      AB012958, AP002340, DB087351
      Consensus CDS
      CCDS8241.1
      UniProtKB/Swiss-Prot
      Q9P2Y5
      Related
      ENSP00000348455.3, OTTHUMP00000229362, ENST00000356136.7, OTTHUMT00000383430
      Conserved Domains (2) summary
      cd00030
      Location:44118
      C2; C2 domain
      pfam10186
      Location:216395
      Atg14; Vacuolar sorting 38 and autophagy-related subunit 14

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

      Range
      75815167..76144238
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545226.3XP_011543528.1  UV radiation resistance-associated gene protein isoform X1

      Conserved Domains (2) summary
      cd00030
      Location:44118
      C2; C2 domain
      pfam10186
      Location:216395
      Atg14; Vacuolar sorting 38 and autophagy-related subunit 14
    2. XM_017018226.2XP_016873715.1  UV radiation resistance-associated gene protein isoform X3

    3. XM_011545227.3XP_011543529.1  UV radiation resistance-associated gene protein isoform X2

      Conserved Domains (2) summary
      cd00030
      Location:44108
      C2; C2 domain
      pfam10186
      Location:216395
      Atg14; Vacuolar sorting 38 and autophagy-related subunit 14
    4. XM_011545228.3XP_011543530.1  UV radiation resistance-associated gene protein isoform X4

      Conserved Domains (2) summary
      cd00030
      Location:44108
      C2; C2 domain
      pfam10186
      Location:216395
      Atg14; Vacuolar sorting 38 and autophagy-related subunit 14
    5. XM_017018227.2XP_016873716.1  UV radiation resistance-associated gene protein isoform X5

      Related
      ENSP00000431256.1, OTTHUMP00000229365, ENST00000533454.5

    RNA

    1. XR_001747950.2 RNA Sequence

    2. XR_001747951.2 RNA Sequence

    3. XR_001747949.2 RNA Sequence

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