Recql4 RecQ protein-like 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Recql4provided by MGI
Official Full Name: RecQ protein-like 4provided by MGI
Primary source: MGI:MGI:1931028
See related: Ensembl:ENSMUSG00000033762 AllianceGenome:MGI:1931028
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: RecQ4
Summary: Predicted to enable DNA binding activity and DNA helicase activity. Acts upstream of or within several processes, including negative regulation of sister chromatid cohesion; positive regulation of cell population proliferation; and skeletal system morphogenesis. Predicted to be located in chromosome, telomeric region. Predicted to be active in chromosome; cytoplasm; and nucleus. Is expressed in several structures, including Harderian gland; alimentary system; immune system; male reproductive gland or organ; and nervous system. Used to study Rothmund-Thomson syndrome. Human ortholog(s) of this gene implicated in Baller-Gerold syndrome; Rothmund-Thomson syndrome; and rapadilino syndrome. Orthologous to human RECQL4 (RecQ like helicase 4). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in liver E14.5 (RPKM 9.5), liver E14 (RPKM 8.4) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15; 15 D3

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (76587753..76594820, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (76703553..76710616, complement)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Comparison of the fertility of tumor suppressor gene-deficient C57BL/6 mouse strains reveals stable reproductive aging and novel pleiotropic gene.
Title: Comparison of the fertility of tumor suppressor gene-deficient C57BL/6 mouse strains reveals stable reproductive aging and novel pleiotropic gene.
Study has demonstrated the ATP-dependent helicase activity of Recql4 is not physiologically essential for murine embryonic development or adult homeostasis, cellular replication and physiological DNA damage repair. However, mutations that create truncating proteins are not tolerated.
Title: ATP-dependent helicase activity is dispensable for the physiological functions of Recql4.
RECQL4 is essential for normal bone development. Animals with no Recql4 in bone cells did not develop osteosarcoma.
Title: The DNA helicase recql4 is required for normal osteoblast expansion and osteosarcoma formation.
findings show that RECQL4 is critical for skeletal development by modulating p53 activity in vivo.
Title: RECQL4 Regulates p53 Function In Vivo During Skeletogenesis.
data indicate that RECQL4 participates in DNA replication rather than genome stability and identify RECQL4 as a regulator of hematopoiesis with a nonredundant role compared with other RecQ helicases
Title: The Rothmund-Thomson syndrome helicase RECQL4 is essential for hematopoiesis.
dysfunction of RECQL4 increases DNA damage and triggers premature senescence in both human and mouse cells, which may contribute to Rothmund-Thomson syndrome features in mice.
Title: Senescence induced by RECQL4 dysfunction contributes to Rothmund-Thomson syndrome features in mice.
Elevated expression of RECQL4 accompanies progression of the Rothmund-Thomson Syndrome into osteosarcoma in humans and mice.
Title: RECQ DNA helicases and osteosarcoma.
we define a small core bidirectional promoter that drives expression of the mouse genes Recql4, on one strand, and Lrrc14; a novel member of the LRR gene family, on the opposite strand
Title: The intergenic region between the Mouse Recql4 and Lrrc14 genes functions as an evolutionary conserved bidirectional promoter.
Recql4 functions as a regulatory protein during osteoprogenitor proliferation, a critical cellular event during skeleton development.
Title: Recql4 haploinsufficiency in mice leads to defects in osteoblast progenitors: Implications for low bone mass phenotype.
Recql4-deficient mice show growth retardation and skin abnormalities.
Title: Growth retardation and skin abnormalities of the Recql4-deficient mouse.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1)
Targeted (7) 1 citation
Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

Homologs of the Recql4 gene: The Recql4 gene is conserved in human, chimpanzee, dog, cow, rat, zebrafish, and frog.
Orthologs from Annotation Pipeline: 446 organisms have orthologs with human gene Recql4
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 3'-5' DNA helicase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables DNA/DNA annealing activity	ISO Inferred from Sequence Orthology more info
enables bubble DNA binding	ISO Inferred from Sequence Orthology more info
enables four-way junction helicase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables helicase activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleic acid binding	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables oxidized purine DNA binding	ISO Inferred from Sequence Orthology more info
enables telomeric D-loop binding	ISO Inferred from Sequence Orthology more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in DNA duplex unwinding	ISO Inferred from Sequence Orthology more info
involved_in DNA recombination	IEA Inferred from Electronic Annotation more info
involved_in DNA replication	ISO Inferred from Sequence Orthology more info
involved_in DNA unwinding involved in DNA replication	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in double-strand break repair via homologous recombination	IBA Inferred from Biological aspect of Ancestor more info	PubMed
acts_upstream_of_or_within negative regulation of sister chromatid cohesion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pigmentation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of sister chromatid cohesion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal system morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in telomere maintenance	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in telomere maintenance	ISO Inferred from Sequence Orthology more info
involved_in telomeric D-loop disassembly	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in chromosome	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in chromosome, telomeric region	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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Preferred Names: ATP-dependent DNA helicase Q4

Names: DNA helicase, RecQ-like type 4; RecQ helicase protein-like 4

NP_478121.2

EC 3.6.4.12

XP_006521609.1

EC 3.6.4.12

XP_006521610.1

EC 3.6.4.12

XP_006521611.1

EC 3.6.4.12

XP_017172293.1

EC 3.6.4.12

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001411974.1 → NP_001398903.1 ATP-dependent DNA helicase Q4 isoform 2

Status: VALIDATED

Source sequence(s)

AC156550
NM_058214.4 → NP_478121.2 ATP-dependent DNA helicase Q4 isoform 1

See identical proteins and their annotated locations for NP_478121.2

Status: VALIDATED

Source sequence(s)

AC156550

Consensus CDS

CCDS27588.1

UniProtKB/Swiss-Prot

Q75NR7

UniProtKB/TrEMBL

A0A0R4J0J3

Related

ENSMUSP00000044363.8, ENSMUST00000036852.9

Conserved Domains (4) summary

smart00343
Location:394 → 408

ZnF_C2HC; zinc finger

smart00487
Location:490 → 678

DEXDc; DEAD-like helicases superfamily

cd00079
Location:707 → 839

HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...

pfam00270
Location:499 → 672

DEAD; DEAD/DEAH box helicase

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000081.7 Reference GRCm39 C57BL/6J

Range

76587753..76594820 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006521546.5 → XP_006521609.1 ATP-dependent DNA helicase Q4 isoform X1

Conserved Domains (3) summary

smart00343
Location:394 → 408

ZnF_C2HC; zinc finger

COG0514
Location:483 → 844

RecQ; Superfamily II DNA helicase RecQ [Replication, recombination and repair]

pfam11719
Location:4 → 49

Drc1-Sld2; DNA replication and checkpoint protein
XM_006521548.5 → XP_006521611.1 ATP-dependent DNA helicase Q4 isoform X3

Conserved Domains (3) summary

smart00343
Location:394 → 408

ZnF_C2HC; zinc finger

COG0514
Location:483 → 942

RecQ; Superfamily II DNA helicase RecQ [Replication, recombination and repair]

pfam11719
Location:4 → 49

Drc1-Sld2; DNA replication and checkpoint protein
XM_006521547.5 → XP_006521610.1 ATP-dependent DNA helicase Q4 isoform X2

Conserved Domains (3) summary

smart00343
Location:394 → 408

ZnF_C2HC; zinc finger

COG0514
Location:482 → 843

RecQ; Superfamily II DNA helicase RecQ [Replication, recombination and repair]

pfam11719
Location:4 → 49

Drc1-Sld2; DNA replication and checkpoint protein
XM_017316804.3 → XP_017172293.1 ATP-dependent DNA helicase Q4 isoform X4

Related

ENSMUSP00000155694.2, ENSMUST00000230544.2

Conserved Domains (2) summary

smart00343
Location:301 → 315

ZnF_C2HC; zinc finger

COG0514
Location:390 → 751

RecQ; Superfamily II DNA helicase RecQ [Replication, recombination and repair]