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

Gene ID: 7405, updated on 17-Jun-2019

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
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

Genomic context

See UVRAG in Genome Data Viewer
Location:
11q13.5
Exon count:
22
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (75815189..76144232)
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 UVRAG divergent transcript 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 Sharpr-MPRA regulatory region 10154 Neighboring gene uncharacterized LOC112268079 Neighboring gene Wnt family member 11

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat'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 BioSystems

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
autophagosome maturation IDA
Inferred from Direct Assay
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 
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 
autophagosome membrane IDA
Inferred from Direct Assay
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 
late endosome IDA
Inferred from Direct Assay
more info
PubMed 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
midbody IDA
Inferred from Direct Assay
more info
PubMed 
phagocytic vesicle IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_003369.4NP_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, ENST00000356136.8
    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

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    75815189..76144232
    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, 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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