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
Show all GO terms

Protein interactions and network

Protein-protein interacting partners in GenAge
EP300, TERF1, SIRT1, MAPK14
STRING interaction network
Protein-Protein network diagram for RECQL4

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

Selected references

External links

EPD
ORF Accession
NM_004260
CDS Accession
NP_004251
OMIM
603780
HPRD
04805
Ensembl
RECQL4
UniProt/Swiss-Prot
RECQ4_HUMAN
GeneCards
RECQL4
Entrez Gene
9401
GenAtlas
RECQL4
Internet
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