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RecQ like helicase 4

Summary

Gene Symbol

RECQL4

Organism

Homo sapiens (human)

External Links

NCBI Gene

9401

PubChem

9401

Alliance of Genome Resources

HGNC:9949

Annotation

Keyword

3D-structure
Cataract
Craniosynostosis
Cytoplasm
DNA-binding
Disease variant
Dwarfism
Helicase
Isomerase
Metal-binding
Nucleus
Phosphoprotein
Reference proteome
Zinc

Proteins

Displaying 1 entry
UniProt	Protein Name
O94761	DNA 3'-5' helicase RecQ4 DNA helicase, RecQ-like type 4 RTS RecQ protein-like 4

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
DNA replication	IMP	22039056
DNA repair	TAS	9878247
telomere maintenance	IBA IMP	22039056
DNA duplex unwinding	IDA TAS	19177149 22039056
DNA unwinding involved in DNA replication	IBA

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

telomere maintenance

telomeric loop disassembly [inference]

telomeric D-loop disassembly

DNA replication

DNA repair

recombinational repair [inference]

double-strand break repair via homologous recombination

double-strand break repair [inference]

double-strand break repair via homologous recombination

DNA recombination [inference]

recombinational repair [inference]

double-strand break repair via homologous recombination

cellular metabolic process [inference]

cellular aromatic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

telomere maintenance

telomeric loop disassembly [inference]

telomeric D-loop disassembly

DNA replication

DNA repair

recombinational repair [inference]

double-strand break repair via homologous recombination

double-strand break repair [inference]

double-strand break repair via homologous recombination

DNA recombination [inference]

recombinational repair [inference]

double-strand break repair via homologous recombination

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

telomere maintenance

telomeric loop disassembly [inference]

telomeric D-loop disassembly

DNA replication

DNA repair

recombinational repair [inference]

double-strand break repair via homologous recombination

double-strand break repair [inference]

double-strand break repair via homologous recombination

DNA recombination [inference]

recombinational repair [inference]

double-strand break repair via homologous recombination

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

telomere maintenance

telomeric loop disassembly [inference]

telomeric D-loop disassembly

DNA replication

DNA repair

recombinational repair [inference]

double-strand break repair via homologous recombination

double-strand break repair [inference]

double-strand break repair via homologous recombination

DNA recombination [inference]

recombinational repair [inference]

double-strand break repair via homologous recombination

primary metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

telomere maintenance

telomeric loop disassembly [inference]

telomeric D-loop disassembly

DNA replication

DNA repair

recombinational repair [inference]

double-strand break repair via homologous recombination

double-strand break repair [inference]

double-strand break repair via homologous recombination

DNA recombination [inference]

recombinational repair [inference]

double-strand break repair via homologous recombination

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

telomere maintenance

telomeric loop disassembly [inference]

telomeric D-loop disassembly

DNA replication

DNA repair

recombinational repair [inference]

double-strand break repair via homologous recombination

double-strand break repair [inference]

double-strand break repair via homologous recombination

DNA recombination [inference]

recombinational repair [inference]

double-strand break repair via homologous recombination

organic cyclic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

telomere maintenance

telomeric loop disassembly [inference]

telomeric D-loop disassembly

DNA replication

DNA repair

recombinational repair [inference]

double-strand break repair via homologous recombination

double-strand break repair [inference]

double-strand break repair via homologous recombination

DNA recombination [inference]

recombinational repair [inference]

double-strand break repair via homologous recombination

cellular process [inference]

cellular metabolic process [inference]

cellular aromatic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

telomere maintenance

telomeric loop disassembly [inference]

telomeric D-loop disassembly

DNA replication

DNA repair

recombinational repair [inference]

double-strand break repair via homologous recombination

double-strand break repair [inference]

double-strand break repair via homologous recombination

DNA recombination [inference]

recombinational repair [inference]

double-strand break repair via homologous recombination

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

telomere maintenance

telomeric loop disassembly [inference]

telomeric D-loop disassembly

DNA replication

DNA repair

recombinational repair [inference]

double-strand break repair via homologous recombination

double-strand break repair [inference]

double-strand break repair via homologous recombination

DNA recombination [inference]

recombinational repair [inference]

double-strand break repair via homologous recombination

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

telomere maintenance

telomeric loop disassembly [inference]

telomeric D-loop disassembly

DNA replication

DNA repair

recombinational repair [inference]

double-strand break repair via homologous recombination

double-strand break repair [inference]

double-strand break repair via homologous recombination

DNA recombination [inference]

recombinational repair [inference]

double-strand break repair via homologous recombination

cellular response to stimulus [inference]

cellular response to stress [inference]

DNA damage response [inference]

DNA repair

recombinational repair [inference]

double-strand break repair via homologous recombination

double-strand break repair [inference]

double-strand break repair via homologous recombination

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

chromosome organization [inference]

telomere organization [inference]

telomere maintenance

telomeric loop disassembly [inference]

telomeric D-loop disassembly

DNA conformation change [inference]

DNA geometric change [inference]

DNA duplex unwinding

DNA unwinding involved in DNA replication

response to stimulus [inference]

response to stress [inference]

cellular response to stress [inference]

DNA damage response [inference]

DNA repair

recombinational repair [inference]

double-strand break repair via homologous recombination

double-strand break repair [inference]

double-strand break repair via homologous recombination

cellular response to stimulus [inference]

cellular response to stress [inference]

DNA damage response [inference]

DNA repair

recombinational repair [inference]

double-strand break repair via homologous recombination

double-strand break repair [inference]

double-strand break repair via homologous recombination

Displaying entries **1 - 5** of 6 in total

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GO Term	Evidence Code	PMID
membrane	HDA	19946888
chromosome, telomeric region	IMP	22039056
nucleoplasm	IDA
nucleus	IBA
cytoplasm	IBA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

chromosome

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

intracellular non-membrane-bounded organelle [inference]

chromosome

chromosomal region [inference]

chromosome, telomeric region

Displaying entries **6 - 10** of 12 in total

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GO Term	Evidence Code	PMID
telomeric D-loop binding	IDA	22039056
metal ion binding	IEA
bubble DNA binding	IDA	19177149
isomerase activity	IEA
ATP binding	IEA

GO Hierarchy

molecular function

catalytic activity [inference]

hydrolase activity [inference]

hydrolase activity, acting on acid anhydrides [inference]

hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides [inference]

pyrophosphatase activity [inference]

ribonucleoside triphosphate phosphatase activity [inference]

ATP hydrolysis activity

isomerase activity

catalytic activity, acting on a nucleic acid [inference]

helicase activity

DNA helicase activity [inference]

catalytic activity, acting on DNA [inference]

ATP-dependent activity, acting on DNA [inference]

DNA helicase activity [inference]

binding [inference]

protein binding

small molecule binding [inference]

heterocyclic compound binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ion binding [inference]

anion binding [inference]

purine ribonucleoside triphosphate binding [inference]

ATP binding

cation binding [inference]

metal ion binding

organic cyclic compound binding [inference]

nucleic acid binding [inference]

DNA binding [inference]

DNA secondary structure binding [inference]

bubble DNA binding

D-loop DNA binding [inference]

telomeric D-loop binding

damaged DNA binding [inference]

oxidized DNA binding [inference]

oxidized purine DNA binding

single-stranded DNA binding [inference]

DNA/DNA annealing activity

annealing activity [inference]

DNA/DNA annealing activity

nucleoside phosphate binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleoside triphosphate binding [inference]

ATP binding

carbohydrate derivative binding [inference]

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ATP-dependent activity [inference]

helicase activity

DNA helicase activity [inference]

ATP-dependent activity, acting on DNA [inference]

DNA helicase activity [inference]

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Uncharacterized protein

Functional Category

L: Replication, recombination and repair
M: Cell wall/membrane/envelope biogenesis
T: Signal transduction mechanisms

Displaying **all 3** entries
Gene Ontology
ATP binding
hydrolase activity
nucleotide binding

Displaying **all 5** entries
InterPro
DEAD/DEAH box helicase domain
Helicase superfamily 1/2, ATP-binding domain
Helicase, C-terminal domain-like
MrfA-like Zn-binding domain
P-loop containing nucleoside triphosphate hydrolase

Disease

Disease Ontology

Displaying **all 3** entries
DO ID	Disease Name	Source
DOID:0050654	Baller-Gerold syndrome	Alliance of Genome Resources
DOID:0050774	rapadilino syndrome	Alliance of Genome Resources
DOID:2732	Rothmund-Thomson syndrome	Alliance of Genome Resources