RECQL4

ATP-dependent DNA helicase Q4 is an enzyme that in humans is encoded by the RECQL4 gene.^[5][6][7]

RECQL4
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2KMU
Identifiers
Aliases	RECQL4, RECQ4, RecQ like helicase 4
External IDs	OMIM: 603780; MGI: 1931028; HomoloGene: 3144; GeneCards: RECQL4; OMA:RECQL4 - orthologs
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8q24.3 Start 144,511,288 bp[1] End 144,517,845 bp[1]
Gene location (Mouse) Chr. Chromosome 15 (mouse)[2] Band 15|15 D3 Start 76,587,753 bp[2] End 76,594,748 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ventricular zone mucosa of transverse colon right testis left testis right hemisphere of cerebellum ganglionic eminence gonad right frontal lobe stromal cell of endometrium putamen Top expressed in fetal liver hematopoietic progenitor cell epiblast tail of embryo primitive streak Paneth cell ventricular zone genital tubercle embryo primary oocyte yolk sac More reference expression data BioGPS More reference expression data
Gene ontology Molecular function ATP-dependent DNA/DNA annealing activity nucleotide binding 3'-5' DNA helicase activity bubble DNA binding protein binding hydrolase activity ATP binding helicase activity nucleic acid binding four-way junction helicase activity oxidized purine DNA binding telomeric D-loop binding DNA binding single-stranded DNA binding Cellular component membrane cytoplasm nucleus telomere chromosome Biological process multicellular organism development DNA repair base-excision repair double-strand break repair via homologous recombination DNA recombination DNA replication DNA duplex unwinding telomeric D-loop disassembly telomere maintenance positive regulation of cell population proliferation positive regulation of G2/M transition of mitotic cell cycle positive regulation of DNA replication DNA unwinding involved in DNA replication Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9401 79456 Ensembl ENSG00000160957 ENSMUSG00000033762 UniProt O94761 Q75NR7 RefSeq (mRNA) NM_004260 NM_058214 RefSeq (protein) NP_004251 NP_478121 Location (UCSC) Chr 8: 144.51 – 144.52 Mb Chr 15: 76.59 – 76.59 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Mutations in RECQL4 are associated with the autosomal recessive disease Rothmund–Thomson syndrome, a disorder that has features of premature aging.^[8][9] In addition to the Rothmund–Thomson syndrome, RECQL4 mutations are also associated with RAPADILINO and Baller–Gerold syndromes.^[10] There are two types of Rothmund Thomson syndrome and it is Type 2 that occurs in patients carrying deleterious mutations in both copies of the RECQL4 gene. This condition is associated with a high risk of developing osteosarcoma (malignant tumor of the bone).^[11] RECQL4 gets its name from being homologous (sharing sequence) with other members of the RecQ helicase family. Two other genetic diseases are due to mutations in other RECQ helicases. Bloom syndrome is associated with mutations in the BLM gene and Werner syndrome is associated with mutations in the WRN gene.^[12]

DNA repair

Double-strand breaks in DNA are potentially lethal to a cell and need to be repaired. Repair of double-strand breaks by homologous recombination (HR) is an important cellular mechanism for avoiding this lethality. RECQL4 has a crucial role in the first step of HR, referred to as end resection.^[13] When RECQL4 is deficient, end resection, and thus HR, is reduced. Evidence suggests that other forms of DNA repair including non-homologous end joining, nucleotide excision repair and base excision repair also depend on RECQL4 function.^[9] In the Rothmund-Thomson syndrome, the association of deficient RECQL4-mediated DNA repair and premature aging is consistent with the DNA damage theory of aging.