UVRAG

Last updated

UVRAG
Identifiers
Aliases UVRAG , DHTX, VPS38, p63, UV radiation resistance associated
External IDs OMIM: 602493; MGI: 1925860; HomoloGene: 31150; GeneCards: UVRAG; OMA:UVRAG - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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]

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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