REPAIRtoire - a database of DNA repair pathways

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RAD54L

RAD54-like (S. cerevisiae)

On chromosome: 1p32
Known also as: HR54; hHR54; RAD54A; hRAD54;


NCBI Gene ID: 8438
NCBI Ensembl Id: ENSG00000085999
MIM Id: (from NCBI OMIM database) 603615
Species: Homo sapiens

The protein encoded by this gene belongs to the DEAD-like helicase superfamily, and shares similarity with Saccharomyces cerevisiae Rad54, a protein known to be involved in the homologous recombination and repair of DNA. This protein has been shown to play a role in homologous recombination related repair of DNA double-strand breaks. The binding of this protein to double-strand DNA induces a DNA topological change, which is thought to facilitate homologous DNA paring, and stimulate DNA recombination. Alternative splicing results in multiple transcript variants encoding the same protein.


Gene sequence:
[Download sequence]

Proteins coded by this gene:
References:

Authors Title Journal
Kanaar R, Troelstra C, Swagemakers SM, Essers J, Smit B, Franssen JH, Pastink A, Bezzubova OY, Buerstedde JM, Clever B, Heyer WD, Hoeijmakers JH Human and mouse homologs of the Saccharomyces cerevisiae RAD54 DNA repair gene: evidence for functional conservation. Curr Biol July 1, 1996
Liu Y, Shete S, Wang LE, El-Zein R, Etzel CJ, Liang FW, Armstrong G, Tsavachidis S, Gilbert M, Aldape K, Xing J, Wu X, Wei Q, Bondy ML Gamma-Radiation Sensitivity and Polymorphisms in RAD51L1 Modulate Glioma Risk. Carcinogenesis July 7, 2010
Briggs FB, Goldstein BA, McCauley JL, Zuvich RL, De Jager PL, Rioux JD, Ivinson AJ, Compston A, Hafler DA, Hauser SL, Oksenberg JR, Sawcer SJ, Pericak-Vance MA, Haines JL, Barcellos LF Variation within DNA repair pathway genes and risk of multiple sclerosis. Am J Epidemiol July 15, 2010

Last modification of this entry: Oct. 6, 2010.

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