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

General

DEAD box ATP-dependent helicase nuclear protein

Properties

SIZE: entity length = 1219 aa MW = 134 kD COMPARTMENT: cell nucleus MOTIF: helicase NAME: helicase SITE: 7-296 MOTIF: ATP-binding site NAME: ATP-binding site SITE: 42-49 cofactor-binding site [145-145] COFACTOR-BOUND: iron sulfur [FeS] cluster nuclear translocation signal {151-167} cofactor-binding site [163-163] COFACTOR-BOUND: iron sulfur [FeS] cluster cofactor-binding site [172-172] COFACTOR-BOUND: iron sulfur [FeS] cluster cofactor-binding site [207-207] COFACTOR-BOUND: iron sulfur [FeS] cluster DEAD/H box NAME: DEAD/H box SITE: 250-253 nuclear translocation signal {871-877}

Database Correlations

OMIM 608833 UniProt Q9NZ71 Pfam PF06733 Entrez Gene 51750 Kegg hsa:51750 ENZYME 3.6.4.12

References

UniProt :accession Q9NZ71