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FLASH GENE

Symbol

RECQL4

contributors: mct/pgu - updated : 05-12-2013

HGNC name	RecQ protein-like 4
HGNC id	9949

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BGS Baller-Gerold syndrome RAPADILINO RAPADILINO syndrome RTS Rothmund Thomson syndrome
Location	8q24.3      Physical location : 145.736.666 - 145.743.210
Synonym name	RecQ protein 4
Synonym symbol(s)	RECQ4
EC.number	3.6.4.12

DNA

TYPE	functioning gene
STRUCTURE	6.53 kb     22 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004260 21 - 3820 NP_004251 - 1208 - 2009 19567405

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine large intestine colon   highly   stomach       highly Lymphoid/Immune thymus       highly   tonsils       highly Reproductive female system uterus     highly   male system testis     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow       Connective bone       Connective cartilage

cells

System Cell Pubmed Species Stage Rna symbol   chondrocyte Digestive enterocyte

cell lineage
cell lines
fluid/secretion	lymph

at STAGE

physiological period

fetal

Text	ventricular zone of developing brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal 84 AAs of RECQL4 contain a mitochondrial localization signal, which causes the localization of RECQL4-TP53 complex to the mitochondria
	seven DNA helicase motif, with specific N and C terminal region
	N-terminus including sld2/DRC1 homology region, and that is a homeodomain-like DNA interaction motif
	C-terminal portion is a substrate for PARP1
	conserved helicase motifs and the Sld2-like N-terminal domain, each independently promote ATP-dependent DNA unwinding
	N and C termini contain unique sequences distinctive from other RECQ family helicases
	within its C-terminus a RecQ-like helicase domain

HOMOLOGY

interspecies	homolog to E.coli RecQ
	ortholog to xenopus Rts

Homologene

FAMILY	helicase family
	RecQ subfamily

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,nucleus,chromatin/chromosome,telomere
	intracellular,nucleus,nucleolus
text	localizes to the nucleolus in response to oxidative stress
	localizes to telomeres and associates with shelterin proteins TERF1 and TERF2
	accumulates in mitochondria in all phases of the cell cycle except S phase

basic FUNCTION	DNA helicase ATP dependent, involved in the maintenance of genomic integrity
	playing an important role in bone development
	playing a role in the sister-chromatid cohesion and in initiation of the replication
	possessing a single-strand DNA annealing activity that is inhibited by the single-strand DNA binding protein RPA, but lacking a detectable DNA helicase activity
	exhibits DNA helicase activity
	having a role in preventing tumorigenesis and maintenance of genome integrity
	may modulate chromosome segregation
	may stimulate repair of H2O2-induced DNA damage, regulating both directly and indirectly base excision repair capacity
	may promote repair of oxidative DNA damage by activating base excision repair (functional protein interactions between RECQL4 and base excision repair proteins)
	may have a role in the repair of UV-induced DNA-damages in human cells
	regulates both directly and indirectly base excision repair capacity
	is involved in telomere maintenance
	participates in telomere maintenance by assisting in D-loop resolution
	RECQL4 could assist WRN and BLM in promoting DNA repair and replication of telomeres containing oxidatively damaged DNA
	facilitates DNA replication in cells that have been exposed to ionizing radiation
	BLM and RECQL4 have coordinated activities that promote genome stability
	regulatory role in mitochondrial stability and function
	NES-mediated RECQL4 export to the cytoplasm is essential for the maintenance of mitochondrial genome stability
	helicase-dependent cellular function of RECQL4 in addition to its N-terminus-dependent role in initiation of replication, a function that may underlie the phenotype of RECQL4-linked disease
	potential novel role for RECQL4 in the repair of thymine glycol lesions to promote efficient telomeric maintenance

CELLULAR PROCESS	cell cycle
	nucleotide, recombination
	nucleotide, repair
	nucleotide, genomic integrity

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

chromosome instability pathway

a component

INTERACTION

DNA

RNA

small molecule	metal binding, nucleotide,
	ATP binding
	Zn2+ binding

protein	complexing with UBR1, UBR2 for the regulation of protein import, chromosome stability, meiosis and apoptosis
	interacting with PARP1
	interacting with MCM10, this interaction regulates RECQL4 unwinding activity
	specifically interacts with p300 HAT
	could directly interact with XPA upon stimulation by UV irradiation
	novel functional synergistic interaction with WRN during D-loop unwinding
	RECQL4 and WRN are present in the same complex and, although RECQL4 by itself has very little activity on telomeric D-loops, it can work synergistically with WRN and resolve telomeric D-loops very efficiently
	physically interacts with TP53 only in the absence of DNA damage (TP53-RECQL4 binding leads to the masking of the nuclear localization signal of TP53)
	physical and functional interaction between BLM and RECQL4

cell & other

REGULATION

Other	upregulated at the G1/S and G2/M stage of the cell cycle
	acteylated by p300 HAT, regulating RECQL4 subcellular localization between the nucleus and the cytoplasm

ASSOCIATED DISORDERS

corresponding disease(s)

RTS , RAPADILINO , BGS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   due to gene amplification play a critical role in human breast tumor progression

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS