DNA repair & recombination protein RAD54-like; RAD54 homolog; hRAD54; hHR54 (RAD54L, RAD54A)

Function

• role in DNA repair & mitotic recombination
• functions in the recombinational DNA repair (RAD52) pathway
• dissociates RAD51 from nucleoprotein filaments formed on dsDNA
• could be involved in the turnover of RAD51 protein - dsDNA filaments
• may play also an essential role in telomere
• length maintenance & telomere capping in mammalian cells
• interacts with RAD51 through the NH2-terminal domain

Structure

• belongs to the SNF2/RAD54 helicase family
• contains 1 helicase ATP-binding domain
• contains 1 helicase C-terminal domain

Compartment

nucleus

Expression

• expression increases approximately 3-fold in late G1 phase compared to other phases of the cell cycle

Pathology

• defects in RAD54L may be a cause of tumor formation
• alterations are found in a small fraction of primary tumors
  • colon adenocarcinoma
  • non-Hodgkin lymphoma
  • breast ductal carcinoma

More general terms

• DEAD box ATP-dependent helicase
• DNA-binding protein

Additional terms

• X-linked helicase-2; transcriptional regulator ATRX; ATP-dependent helicase ATRX; RAD54 homolog; X-linked nuclear protein XNP (ATRX, ATR2, RAD54L, XH2)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=8438
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:8438
• OMIM: https://mirror.omim.org/entry/603615
• UniProt: http://www.uniprot.org/uniprot/Q92698.html