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) [1] Band 11q13.5 Start 75,815,210 bp [1] End 76,144,232 bp [1]
Gene location (Mouse) Chr. Chromosome 7 (mouse) [2] Band 7|7 E1 Start 98,534,228 bp [2] End 98,790,348 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 7405 78610 Ensembl ENSG00000198382 ENSMUSG00000035354 UniProt Q9P2Y5 Q8K245 RefSeq (mRNA) NM_003369 NM_178635 RefSeq (protein) NP_003360 NP_848750 Location (UCSC) Chr 11: 75.82 – 76.14 Mb Chr 7: 98.53 – 98.79 Mb PubMed search [3] [4]
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

1. GRCh38: Ensembl release 89: ENSG00000198382 – Ensembl, May 2017
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.
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.
6. "Entrez Gene: UVRAG UV radiation resistance associated gene".

Further reading

• 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 12 July 2025). 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. 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.