RECQL

ATP-dependent DNA helicase Q1 is an enzyme that in humans is encoded by the RECQL gene.^[5][6][7]

AliasesRECQL, RECQL1, RecQ1, RecQ like helicase

External IDsOMIM: 600537; MGI: 103021; GeneCards: RECQL

PDBOrtholog search: PDBe RCSB

Chr.Chromosome 12 (human)^[1]

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RECQL
Identifiers
Aliases	RECQL, RECQL1, RecQ1, RecQ like helicase
External IDs	OMIM: 600537; MGI: 103021; GeneCards: RECQL
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2V1X, 2WWY, 4U7D
Enzyme activity EC # BRENDA ExPASy KEGG MetaCyc 5.6.2.4 ↗ ↗ ↗ ↗
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12p12.1 Start 21,468,910 bp[1] End 21,501,669 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6 G2|6 73.91 cM Start 142,296,068 bp[2] End 142,332,813 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in buccal mucosa cell tibia Achilles tendon parietal pleura visceral pleura superficial temporal artery mucosa of paranasal sinus synovial joint oral cavity skin of hip Top expressed in spermatid spermatocyte neural layer of retina Paneth cell barrel cortex thymus otic placode primitive streak yolk sac ventricular zone More reference expression data BioGPS More reference expression data
Gene ontology Molecular function ATP-dependent DNA/DNA annealing activity nucleotide binding DNA helicase activity protein binding hydrolase activity ATP binding helicase activity nucleic acid binding DNA binding 3'-5' DNA helicase activity four-way junction helicase activity Cellular component membrane nucleoplasm chromosome cytoplasm nucleus Biological process DNA recombination DNA repair double-strand break repair via homologous recombination DNA duplex unwinding DNA unwinding involved in DNA replication Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 5965 19691 Ensembl ENSG00000004700 ENSMUSG00000030243 UniProt P46063 Q9Z129 RefSeq (mRNA) NM_002907 NM_032941 NM_001204906 NM_001204907 NM_023042 NM_001355511 RefSeq (protein) NP_002898 NP_116559 NP_001191835 NP_001191836 NP_075529 NP_001342440 Location (UCSC) Chr 12: 21.47 – 21.5 Mb Chr 6: 142.3 – 142.33 Mb PubMed search [3] [4]
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The protein encoded by this gene is a member of the RecQ DNA helicase family. DNA helicases are enzymes involved in various types of DNA repair, including mismatch repair, nucleotide excision repair and direct repair. Some members of this family are associated with genetic disorders with predisposition to malignancy and chromosomal instability. The biological function of this helicase has not yet been determined. Two alternatively spliced transcripts, which encode the same isoform but differ in their 5' and 3' UTRs, have been described.^[7]