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

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: mouse all
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Genomic context

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_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

UVRAG: orchestrating the initiation of reticulophagy.
Title: UVRAG: orchestrating the initiation of reticulophagy.
TNF-alpha-dependent neuronal necroptosis regulated in Alzheimer's disease by coordination of RIPK1-p62 complex with autophagic UVRAG.
Title: TNF-α-dependent neuronal necroptosis regulated in Alzheimer's disease by coordination of RIPK1-p62 complex with autophagic UVRAG.
GORASP2/GRASP55 collaborates with the PtdIns3K UVRAG complex to facilitate autophagosome-lysosome fusion.
Title: GORASP2/GRASP55 collaborates with the PtdIns3K UVRAG complex to facilitate autophagosome-lysosome fusion.
UVRAG is ubiquitinated by SMURF1 at lysine residues 517 and 559, which decreases the association of UVRAG with RUBCN and promotes autophagosome maturation.
Title: Ubiquitination of UVRAG by SMURF1 promotes autophagosome maturation and inhibits hepatocellular carcinoma growth.
miR183 inhibits starvationinduced autophagy and apoptosis by targeting UVRAG in human gastric cancer cells.
Title: miR-183 inhibits autophagy and apoptosis in gastric cancer cells by targeting ultraviolet radiation resistance-associated gene.
results establish UVRAG as an important effector for melanocytes' response to alpha-MSH signaling as a direct target of MITF and reveal the molecular basis underlying the association between oncogenic BRAF and compromised UV protection in melanoma.
Title: Central role of autophagic UVRAG in melanogenesis and the suntan response.
our study showed that the expression of miR-125b-5p is downregulated in peripheral blood mononuclear cells of systemic lupus erythematosus patients, accompanied by increased UVRAG expression and autophagy activation
Title: miR-125b is downregulated in systemic lupus erythematosus patients and inhibits autophagy by targeting UVRAG.
To induce the redistribution of Beclin 1 among its self-associated form or Atg14L/UVRAG-containing complexes enhances both autophagy and endolysosomal trafficking.
Title: Targeting the potent Beclin 1-UVRAG coiled-coil interaction with designed peptides enhances autophagy and endolysosomal trafficking.
miR-216b enhances the efficacy of vemurafenib and reverses drug resistance by targeting Beclin-1, UVRAG and ATG5 in melanoma.
Title: miR-216b enhances the efficacy of vemurafenib by targeting Beclin-1, UVRAG and ATG5 in melanoma.
Our findings suggest that up-regulation of UVRAG by HDAC1 inhibition potentiates DNA-damage-mediated cell death in colorectal cancer cells
Title: Up-regulation of UVRAG by HDAC1 Inhibition Attenuates 5FU-induced Cell Death in HCT116 Colorectal Cancer Cells.

Submit: New GeneRIF Correction See all GeneRIFs (36)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH91319 (e-PCR)
- UniSTS:89107

SHGC-37600 (e-PCR)
- UniSTS:18977

RH123863 (e-PCR)
- UniSTS:136238

RH120567 (e-PCR)
- UniSTS:132400

D11S3956 (e-PCR)
- UniSTS:153665

G62733 (e-PCR)
- UniSTS:139858

SHGC-85733 (e-PCR)
- UniSTS:103763

D11S2405 (e-PCR)
- UniSTS:61542

SHGC-112556 (e-PCR)
- UniSTS:182378

WI-11862 (e-PCR)
- UniSTS:61062

D11S1321 (e-PCR), detects polymorphism
- UniSTS:13959

D11S3474 (e-PCR)
- UniSTS:152715

RH121273 (e-PCR)
- UniSTS:138384

RH123240 (e-PCR)
- UniSTS:137901

D11S4054E (e-PCR)
- UniSTS:154053

SHGC-83374 (e-PCR)
- UniSTS:101063

G02246 (e-PCR)
- UniSTS:70092

G17578 (e-PCR)
- UniSTS:79321

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

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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

NG_046930.1 RefSeqGene

Range

5044..334066

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001386671.1 → NP_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:44 → 118

C2; C2 domain

pfam10186
Location:184 → 442

Atg14; Vacuolar sorting 38 and autophagy-related subunit 14
NM_001386672.1 → NP_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:130 → 388

Atg14; Vacuolar sorting 38 and autophagy-related subunit 14
NM_001386673.1 → NP_001373602.1 UV radiation resistance-associated gene protein isoform 4

Status: REVIEWED

Source sequence(s)

AP002340, AP003031, AP003168

Conserved Domains (2) summary

cd00030
Location:44 → 108

C2; C2 domain

pfam10186
Location:184 → 395

Atg14; Vacuolar sorting 38 and autophagy-related subunit 14
NM_001386674.1 → NP_001373603.1 UV radiation resistance-associated gene protein isoform 5

Status: REVIEWED

Source sequence(s)

AP002340, AP003031, AP003168

Conserved Domains (2) summary

cd00030
Location:44 → 108

C2; C2 domain

pfam10186
Location:184 → 395

Atg14; Vacuolar sorting 38 and autophagy-related subunit 14
NM_003369.4 → NP_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:44 → 118

C2; C2 domain

pfam10186
Location:184 → 442

Atg14; Vacuolar sorting 38 and autophagy-related subunit 14

RNA

NR_170160.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AP002340, AP003031, AP003168
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

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

75815210..76144232

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047427520.1 → XP_047283476.1 UV radiation resistance-associated gene protein isoform X1
XM_047427521.1 → XP_047283477.1 UV radiation resistance-associated gene protein isoform X2
XM_047427522.1 → XP_047283478.1 UV radiation resistance-associated gene protein isoform X3

Related

ENSP00000434082.1, ENST00000531818.5

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

75744934..76073948

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054369816.1 → XP_054225791.1 UV radiation resistance-associated gene protein isoform X1
XM_054369817.1 → XP_054225792.1 UV radiation resistance-associated gene protein isoform X2
XM_054369818.1 → XP_054225793.1 UV radiation resistance-associated gene protein isoform X3