UVRAG
Identifiers
AliasesUVRAG, DHTX, VPS38, p63, UV radiation resistance associated
External IDsOMIM: 602493 MGI: 1925860 HomoloGene: 31150 GeneCards: UVRAG
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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000198382 - Ensembl, May 2017
  2. 1 2 3 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. 1 2 "Entrez Gene: UVRAG UV radiation resistance associated gene".

Further reading


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