UVRAG

UVRAG
Identifiers
Aliases	UVRAG, DHTX, VPS38, p63, UV radiation resistance associated
External IDs	OMIM: 602493; MGI: 1925860; HomoloGene: 31150; GeneCards: UVRAG; OMA:UVRAG - orthologs
Gene location (Human)
Chr.	Chromosome 11 (human)
End	76,144,232 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	98,790,348 bp
RNA expression pattern
	Top expressed in
	corpus callosum; ; Achilles tendon; ; subcutaneous adipose tissue; ; epithelium of colon; ; abdominal fat; ; monocyte; ; parietal pleura; ; lymph node; ; tonsil; ; testicle;
	Top expressed in
	gastrula; ; primary oocyte; ; zygote; ; calvaria; ; spleen; ; stroma of bone marrow; ; secondary oocyte; ; decidua; ; thymus; ; endothelial cell of lymphatic vessel;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	SH3 domain binding; protein binding; SNARE binding;
Cellular component	cytoplasm; HOPS complex; endosome; late endosome; centrosome; chromosome; midbody; early endosome; phagocytic vesicle; endoplasmic reticulum; DNA-dependent protein kinase complex; lysosome; chromosome, centromeric region; protein-containing complex; autophagosome membrane; autophagosome; cytoplasmic vesicle;
Biological process	double-strand break repair via classical nonhomologous end joining; regulation of cytokinesis; regulation of protein serine/threonine kinase activity; retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum; multivesicular body sorting pathway; chromosome segregation; regulation of vesicle-mediated transport; receptor catabolic process; cellular response to DNA damage stimulus; autophagy; spindle organization; viral entry into host cell; maintenance of Golgi location; DNA repair; SNARE complex assembly; positive regulation of autophagosome maturation; centrosome cycle; autophagosome maturation;
	Sources:Amigo / QuickGO
Orthologs
	7405
	78610
	ENSG00000198382
	ENSMUSG00000035354
	Q9P2Y5
	Q8K245
	NM_003369
	NM_178635
	NP_003360
	NP_848750
	Wikidata
View/Edit Human	View/Edit Mouse

UV radiation resistance-associated gene protein is a protein that in humans is encoded by the UVRAG gene.^[5]^[6]

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.^[6]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000198382 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000035354 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Perelman B, Dafni N, Naiman T, Eli D, Yaakov M, Feng TL, Sinha S, Weber G, Khodaei S, Sancar A, Dotan I, Canaani D (Jul 1997). "Molecular cloning of a novel human gene encoding a 63-kDa protein and its sublocalization within the 11q13 locus". Genomics. 41 (3): 397–405. doi:10.1006/geno.1997.4623. PMID 9169138.
^ ^a ^b "Entrez Gene: UVRAG UV radiation resistance associated gene".

Liang C, Feng P, Ku B, et al. (2007). "UVRAG: a new player in autophagy and tumor cell growth". Autophagy. 3 (1): 69–71. doi:10.4161/auto.3437. PMID 17106237.
Teitz T, Penner M, Eli D, et al. (1990). "Isolation by polymerase chain reaction of a cDNA whose product partially complements the ultraviolet sensitivity of xeroderma pigmentosum group C cells". Gene. 87 (2): 295–298. doi:10.1016/0378-1119(90)90316-J. PMID 2332174.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–174. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–156. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Bekri S, Adélaïde J, Merscher S, et al. (1998). "Detailed map of a region commonly amplified at 11q13→q14 in human breast carcinoma". Cytogenet. Cell Genet. 79 (1–2): 125–131. doi:10.1159/000134699. PMID 9533029.
Iida A, Emi M, Matsuoka R, et al. (2000). "Identification of a gene disrupted by inv(11)(q13.5;q25) in a patient with left-right axis malformation". Hum. Genet. 106 (3): 277–287. doi:10.1007/s004390051038 (inactive 2024-02-08). PMID 10798355.{{cite journal}}: CS1 maint: DOI inactive as of February 2024 (link)
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–16903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Goi T, Kawasaki M, Yamazaki T, et al. (2004). "Ascending colon cancer with hepatic metastasis and cholecystolithiasis in a patient with situs inversus totalis without any expression of UVRAG mRNA: report of a case". Surg. Today. 33 (9): 702–706. doi:10.1007/s00595-002-2567-y. PMID 12928850. S2CID 29935419.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–45. doi:10.1038/ng1285. PMID 14702039.
Ionov Y, Nowak N, Perucho M, et al. (2004). "Manipulation of nonsense mediated decay identifies gene mutations in colon cancer Cells with microsatellite instability". Oncogene. 23 (3): 639–645. doi:10.1038/sj.onc.1207178. PMID 14737099. S2CID 22875014.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
Liang C, Feng P, Ku B, et al. (2006). "Autophagic and tumour suppressor activity of a novel Beclin1-binding protein UVRAG". Nat. Cell Biol. 8 (7): 688–698. doi:10.1038/ncb1426. PMID 16799551. S2CID 19739498.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000198382 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000035354 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9169138-5] Perelman B, Dafni N, Naiman T, Eli D, Yaakov M, Feng TL, Sinha S, Weber G, Khodaei S, Sancar A, Dotan I, Canaani D (Jul 1997). "Molecular cloning of a novel human gene encoding a 63-kDa protein and its sublocalization within the 11q13 locus". Genomics. 41 (3): 397–405. doi:10.1006/geno.1997.4623. PMID 9169138.

[entrez-6] "Entrez Gene: UVRAG UV radiation resistance associated gene".

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References

Further reading