UVRAG

Protein-coding gene in the species Homo sapiens

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

[edit]

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000198382 - Ensembl, May 2017
2. ^ a b c 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. ^ a b "Entrez Gene: UVRAG UV radiation resistance associated gene".

## Further reading

[edit]

* 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 2024-09-17). PMID 10798355.`{{cite journal}}`: CS1 maint: DOI inactive as of September 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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