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

    Gene ID: 7405, updated on 10-Dec-2024

    Summary

    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; AllianceGenome:HGNC:12640
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See UVRAG in Genome Data Viewer
    Location:
    11q13.5
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (75815210..76144232)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (75744934..76073948)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (75526255..75855276)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3775 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5276 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5277 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:75487905-75488193 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:75492457-75493023 Neighboring gene Sharpr-MPRA regulatory region 10576 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3776 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5278 Neighboring gene diacylglycerol O-acyltransferase 2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:75524366-75525565 Neighboring gene Sharpr-MPRA regulatory region 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3777 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5280 Neighboring gene UVRAG divergent transcript Neighboring gene Sharpr-MPRA regulatory region 15578 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:75584619-75585120 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5281 Neighboring gene protein phosphatase 1 regulatory inhibitor subunit 1A pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5282 Neighboring gene RNA, 5S ribosomal pseudogene 344 Neighboring gene MPRA-validated peak1353 silencer Neighboring gene VISTA enhancer hs1435 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:75769360-75769545 Neighboring gene NANOG hESC enhancer GRCh37_chr11:75831587-75832314 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:75863001-75863881 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5284 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:75875819-75876512 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:75886811-75887552 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:75887553-75888295 Neighboring gene Sharpr-MPRA regulatory region 10154 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:75896164-75896944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:75895382-75896163 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:75897726-75898505 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3778 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:75918003-75918670 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3779 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:75920005-75920671 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:75920672-75921338 Neighboring gene uncharacterized LOC112268079 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3780 Neighboring gene long intergenic non-protein coding RNA 2761 Neighboring gene Wnt family member 11

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables SNARE binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in SNARE complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in autophagosome maturation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in autophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in centrosome cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in chromosome segregation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in double-strand break repair via classical nonhomologous end joining IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in maintenance of Golgi location IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in multivesicular body sorting pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in phosphatidylinositol-3-phosphate biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of autophagosome maturation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in receptor catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of autophagy IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of cytokinesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in spindle organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in symbiont entry into host cell IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of DNA-dependent protein kinase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in autophagosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromosome, centromeric region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum-Golgi intermediate compartment membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in late endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in lytic vacuole IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in midbody IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in phagocytic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    part_of phosphatidylinositol 3-kinase complex, class III IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    General protein information

    Preferred Names
    UV radiation resistance-associated gene protein
    Names
    beclin 1 binding protein
    disrupted in heterotaxy

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5044..334066
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001386671.1NP_001373600.1  UV radiation resistance-associated gene protein isoform 1

      Status: REVIEWED

      Source sequence(s)
      AP002340, AP003031, AP003168
      UniProtKB/TrEMBL
      A8K4P6, Q53H09, Q6P1X0
      Conserved Domains (2) summary
      cd00030
      Location:44118
      C2; C2 domain
      pfam10186
      Location:184442
      Atg14; Vacuolar sorting 38 and autophagy-related subunit 14
    2. NM_001386672.1NP_001373601.1  UV radiation resistance-associated gene protein isoform 3

      Status: REVIEWED

      Source sequence(s)
      AP002340, AP003031, AP003168
      UniProtKB/TrEMBL
      A8K4P6, Q53H09, Q6P1X0
      Conserved Domains (1) summary
      pfam10186
      Location:130388
      Atg14; Vacuolar sorting 38 and autophagy-related subunit 14
    3. NM_001386673.1NP_001373602.1  UV radiation resistance-associated gene protein isoform 4

      Status: REVIEWED

      Source sequence(s)
      AP002340, AP003031, AP003168
      Conserved Domains (2) summary
      cd00030
      Location:44108
      C2; C2 domain
      pfam10186
      Location:184395
      Atg14; Vacuolar sorting 38 and autophagy-related subunit 14
    4. NM_001386674.1NP_001373603.1  UV radiation resistance-associated gene protein isoform 5

      Status: REVIEWED

      Source sequence(s)
      AP002340, AP003031, AP003168
      Conserved Domains (2) summary
      cd00030
      Location:44108
      C2; C2 domain
      pfam10186
      Location:184395
      Atg14; Vacuolar sorting 38 and autophagy-related subunit 14
    5. NM_003369.4NP_003360.2  UV radiation resistance-associated gene protein isoform 2

      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
      B3KTC1, O00392, Q9P2Y5
      UniProtKB/TrEMBL
      A8K4P6, Q53H09, Q6P1X0
      Related
      ENSP00000348455.3, ENST00000356136.8
      Conserved Domains (2) summary
      cd00030
      Location:44118
      C2; C2 domain
      pfam10186
      Location:184442
      Atg14; Vacuolar sorting 38 and autophagy-related subunit 14

    RNA

    1. NR_170160.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AP002340, AP003031, AP003168
    2. NR_170161.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AP002340, AP003031, AP003168

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      75815210..76144232
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047427520.1XP_047283476.1  UV radiation resistance-associated gene protein isoform X1

    2. XM_047427521.1XP_047283477.1  UV radiation resistance-associated gene protein isoform X2

    3. XM_047427522.1XP_047283478.1  UV radiation resistance-associated gene protein isoform X3

      Related
      ENSP00000434082.1, ENST00000531818.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      75744934..76073948
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369816.1XP_054225791.1  UV radiation resistance-associated gene protein isoform X1

    2. XM_054369817.1XP_054225792.1  UV radiation resistance-associated gene protein isoform X2

    3. XM_054369818.1XP_054225793.1  UV radiation resistance-associated gene protein isoform X3