UVRAG

Protein-coding gene in the species Homo sapiens
UVRAG
Identifiers
AliasesUVRAG, DHTX, VPS38, p63, UV radiation resistance associated
External IDsOMIM: 602493; MGI: 1925860; HomoloGene: 31150; GeneCards: UVRAG; OMA:UVRAG - orthologs
Gene location (Human)
Chromosome 11 (human)
Chr.Chromosome 11 (human)[1]
Chromosome 11 (human)
Genomic location for UVRAG
Genomic location for UVRAG
Band11q13.5Start75,815,210 bp[1]
End76,144,232 bp[1]
Gene location (Mouse)
Chromosome 7 (mouse)
Chr.Chromosome 7 (mouse)[2]
Chromosome 7 (mouse)
Genomic location for UVRAG
Genomic location for UVRAG
Band7|7 E1Start98,534,228 bp[2]
End98,790,348 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 7: 98.53 – 98.79 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ 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

  • 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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