RECQL Gene Summary [Human]
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. The encoded protein is involved in the processing of Holliday junctions, the suppression of sister chromatid exchanges, telomere maintenance, and is required for genotoxic stress resistance. Defects in this gene have been associated with several types of cancer. [provided by RefSeq, Jan 2017]
Details
| Type | Protein Coding |
| Official Symbol | RECQL |
| Official Name | RecQ like helicase [Source:HGNC Symbol;Acc:HGNC:9948] |
| Ensembl ID | ENSG00000004700 |
| Bio databases IDs | |
| Aliases | RecQ like helicase, DNA helicase Q1-like |
| Synonyms | RECON, RecQ1, RECQL1, RecQ like helicase, RecQ protein-like |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human RECQL often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ATP-dependent DNA helicase, RecQ family
- nucleic acid binding
- DEAD/DEAH box helicase
- helicase superfamily c-terminal domain
- isomerase
- enzyme
- protein binding
- Helicase conserved C-terminal domain
- RQC domain
- DNA helicase
- single-stranded DNA binding
- RecQ zinc-binding
- Type III restriction enzyme, res subunit
- N-terminal helicase domain of the DEAD-box helicase superfamily
- DEAD-like helicases superfamily
- P-loop containing Nucleoside Triphosphate Hydrolases
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- hereditary cancer-predisposing syndrome
- breast carcinoma
- familial breast carcinoma
- familial breast cancer
- RECON syndrome
- hereditary breast and/or ovarian cancer
- familial ovarian cancer
- gastrointestinal stromal tumor
- gastrointestinal stromal neoplasia
role in cell
- phosphorylation in
- cell death
- proliferation
- synthesis in
- abnormal morphology
- progression in
- progression
- origin firing in
- aneuploidy
- gemcitabine sensitivity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nucleoplasm
- nuclear bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RECQL gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- DNA repair
- double-strand break repair via homologous recombination
- replication fork processing
- DNA unwinding involved in replication
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- membrane
- chromosome
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- DNA helicase activity
- protein binding
- metal ion binding
- double-stranded DNA-dependent ATP-dependent DNA helicase activity
- four-way junction helicase activity
- 3'-5' DNA helicase activity
- isomerase activity