GenAge entry for RECQL4 (Homo sapiens)

Gene name (HAGRID: 128)

HGNC symbol: RECQL4
Aliases: RecQ4
Common name: RecQ helicase-like 4

Potential relevance to the human ageing process

Main reason for selection: Entry selected based on evidence linking the gene product to a pathway or mechanism linked to ageing
Description: A helicase that is responsibility for a majority of the cases of Rothmund-Thomson syndrome [651][4490], RECQL4 belongs to the same family of WRN and BLM. Though Rothmund-Thomson syndrome does not resemble accelerated ageing like Werner's syndrome does [444], it is reasonable that RECQL4 might be involved in human ageing. RECQL4 participates in multiple DNA pathways [4490] and cells from patients carrying RECQL4 mutations can exhibit elevated stress-induced premature senescence [4491]. RECQL4-deficient mice die at embryonic stages [1692].

Cytogenetic information

Cytogenetic band: 8q24.3
Location: 144,511,284 bp to 144,517,826 bp
Orientation: Minus strand

Display region using the UCSC Genome Browser (GRCh38/hg38)

Protein information

Gene Ontology

Process:

GO:0000733; DNA strand renaturation
GO:0006260; DNA replication
GO:0006281; DNA repair
GO:0006284; base-excision repair
GO:0006302; double-strand break repair
GO:0006310; DNA recombination
GO:0007275; multicellular organism development
GO:0032508; DNA duplex unwinding

Cellular component:

GO:0005634; nucleus
GO:0005694; chromosome
GO:0005737; cytoplasm
GO:0016020; membrane

Function:

GO:0000405; bubble DNA binding
GO:0005515; protein binding
GO:0005524; ATP binding
GO:0009378; four-way junction helicase activity
GO:0036310; annealing helicase activity
GO:0043140; ATP-dependent 3'-5' DNA helicase activity

Hide GO terms

Protein interactions and network

Protein-protein interacting partners in GenAge: EP300, TERF1, SIRT1, MAPK14
STRING interaction network

Retrieve sequences for RECQL4

ORF: ORF
CDS: CDS

Homologs in model organisms

Danio rerio: RECQL4
Drosophila melanogaster: RecQ4
Mus musculus: Recql4
Rattus norvegicus: Recql4
Saccharomyces cerevisiae: SGS1

In other databases

GenAge model organism genes

A homolog of this gene for Saccharomyces cerevisiae is present as SGS1

LongevityMap

This gene is present as RECQL4

CellAge

This gene is present as RECQL4