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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 **6 - 7** of 7 in total

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GO Term	Evidence Code	PMID
double-strand break repair via homologous recombination	IBA
telomeric D-loop disassembly	IDA IGI	22039056

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

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

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

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

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

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

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

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

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

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

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]

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]

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]

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

Ortholog

Displaying entry **31 - 31** of 31 in total

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Species	Gene ID	OrthoDB	Alliance of Genome Resources	Orthologous MAtrix
Gorilla gorilla gorilla	129524091	9595_0:002889		GORGO40448

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Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024