RECQL4 Gene Summary [Human]
The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010]
Details
| Type | Protein Coding |
| Official Symbol | RECQL4 |
| Official Name | RecQ like helicase 4 [Source:HGNC Symbol;Acc:HGNC:9949] |
| Ensembl ID | ENSG00000160957 |
| Bio databases IDs | |
| Aliases | RecQ like helicase 4 |
| Synonyms | RECQ4, RecQ like helicase 4, RecQ protein-like 4 |
| 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 RECQL4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Zinc knuckle
- nucleic acid binding
- helicase
- DEAD/DEAH box helicase
- DNA secondary structure binding
- helicase superfamily c-terminal domain
- isomerase
- enzyme
- protein binding
- Helicase conserved C-terminal domain
- zinc finger
- damaged DNA binding
- single-stranded DNA 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
- colorectal cancer
- metastasis
- cancer
- baller-gerold syndrome
- organismal death
- Rothmund-Thomson syndrome type 2
- rothmund-thomson syndrome
- rapadilino syndrome
- liver cancer
- osteosarcomagenesis
role in cell
- proliferation
- phosphorylation in
- expression in
- synthesis in
- cell viability
- cohesion
- origin firing in
- breakage
- disassembly in
- maintenance
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
- Cytoplasm
- nucleoplasm
- telomeres
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RECQL4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- DNA repair
- DNA replication
- DNA duplex unwinding
- double-strand break repair via homologous recombination
- telomere maintenance
- DNA unwinding involved in replication
Cellular Component
Where in the cell the gene product is active
- chromosome, telomeric region
- nucleus
- cytoplasm
- membrane
- chromosome
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- protein binding
- metal ion binding
- bubble DNA binding
- helicase activity
- four-way junction helicase activity
- 3'-5' DNA helicase activity
- oxidized purine DNA binding
- isomerase activity