regulator of telomere elongation helicase 1; novel helicase-like (RTEL1, C20orf41, KIAA1088, NHL)

Function

• ATP-dependent DNA helicase
• required to suppress inappropriate homologous recombination, thus playing a role DNA repair & in the maintenance of genomic stability
• antagonizes homologous recombination by promoting the disassembly of D loop recombination intermediates
• also required to regulate telomere length; probably due to its anti-recombinase function

ATP + H2O = ADP + phosphate

Structure

• belongs to the helicase family, RAD3/XPD subfamily
• contains 1 helicase ATP-binding domain

Compartment

nucleus (putative)

Alternative splicing

• named isoforms=8
• additional isoforms seem to exist Pahtology: amplified in gastric tumors

More general terms

• DEAD box ATP-dependent helicase
• nuclear protein

Additional terms

• telomere

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=51750
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:51750
• OMIM: https://mirror.omim.org/entry/608833
• UniProt: http://www.uniprot.org/uniprot/Q9NZ71.html