UVRAG

UVRAG
Identifiers
Aliases	UVRAG, DHTX, VPS38, p63, UV radiation resistance associated
External IDs	OMIM: 602493 MGI: 1925860 HomoloGene: 31150 GeneCards: UVRAG
Gene location (Human)
Chr.	Chromosome 11 (human)[1]
End	76,144,232 bp[1]
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)[2]
End	99,141,141 bp[2]
RNA expression pattern
	More reference expression data
Gene ontology
Molecular function	• SH3 domain binding; • GO:0001948 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; • macromolecular 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 ER; • 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; • 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

GRCh38: Ensembl release 89: ENSG00000198382 - Ensembl, May 2017
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.
"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. PMID 10798355.
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. 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.
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.
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.

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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".

UVRAG

References

Further reading