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

Gene ID: 7405, updated on 14-Aug-2021

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
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Genomic context

See UVRAG in Genome Data Viewer
Location:
11q13.5
Exon count:
23
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (75815189..76144232)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (75526255..75855276)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene diacylglycerol O-acyltransferase 2 Neighboring gene Sharpr-MPRA regulatory region 8 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 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

Homology

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
PubMed 
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
PubMed 
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 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 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 viral entry into host cell IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
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 
is_active_in endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
located_in midbody IDA
Inferred from Direct Assay
more info
PubMed 
located_in 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)

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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
    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
    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
    Q9P2Y5
    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: Homo sapiens Updated Annotation Release 109.20210514

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_017018226.2XP_016873715.1  UV radiation resistance-associated gene protein isoform X3

  2. 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_001747949.2 RNA Sequence

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