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FLASH GENE

Symbol

RECQL

contributors: mct/pgu - updated : 18-11-2015

HGNC name	RecQ protein-like (DNA helicase Q1-like)
HGNC id	9948

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	32.76 kb     15 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002907 15 - 3795 NP_002898 - 649 - 2002 12419324 NM_032941 16 - 3598 NP_116559 - 649 - 2002 12419324 RECQL I3 - - - - 105 - 2002 12419324 having the first 53 N-terminal amino acids identical to the known sequence of RECQL protein and followed by 52 amino acids introduced by in-frame premature stop codon RECQL I2 15 - 2866 - 537 - 2002 12419324 has the same sequence as the published human RECQL helicase, except the first 112 amino acids at the N-terminal end were absent

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 Lymphoid/Immune lymph node       highly Reproductive male system testis     highly Respiratory respiratory tract trachea     highly

cell lineage
cell lines	isolated from HeLa cells
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal region (AAs 1-56) necessary both for protein oligomerization and for this Holliday junction disruption activity
	seven RecQ helicase domains
	RecQ-specific zinc-binding domain
	N-terminal winged-helix (WH) domain, with prominent beta-hairpin essential for DNA strand separation, which may be analogous to DNA strand-separation features of other DNA helicases

HOMOLOGY

Homologene

FAMILY

RecQl family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,chromatin/chromosome,telomere
text	RECQL and FEN1 were constitutively present at telomeres and their binding to the telomeric chromatin was enhanced following DNA damage

basic FUNCTION	DNA helicase with DNA dependent ATPase activity, putatively involved in DNA repair and/or chromosome segregation
	playing a role in the maintenance of genome stability that is distinct from that of BLM
	playing an important role in preserving genomic integrity, and having cellular roles in DNA repair, recombination, and replication
	playing a role in a pathway involving mismatch repair factors, and regulation of genetic recombination
	having a unique cellular role in the DNA repair processes required for genomic integrity
	catalyzes unidirectional three-stranded branch migration with a 3' --> 5' polarity
	involved in maintaining chromosome stability
	RECQL and WRN proteins are RecQ DNA helicases that participate in suppression of DNA hyper-recombination and repair
	role of RECQL in replication fork stabilization and role in the DNA damage response to maintain genomic stability
	crucial role for RECQL at naturally occurring fork stalling sites, implicating RECQL in mechanisms underlying common fragile site instability in cancer
	may participate in the same pathway as WRN, probably in telomere replication
	novel function of RECQL in gene regulation, indicating that RECQL contributes to tumor development and progression, in part, by regulating the expression of key genes that promote cancer cell migration, invasion and metastasis
	RECQL helicases and PARP1 are involved in the control of DNA repair, telomere maintenance, and replicative stress

CELLULAR PROCESS

nucleotide, repair

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	stimulates the incision activity of human exonuclease 1 (EXO1)
	the mismatch repair recognition complex MSH2/6 stimulates RECQ1 helicase activity
	PARP1 stabilizes forks in the regressed state by limiting their restart by RECQL
	interaction of RECQL with XRCC5/XRCC6 and role of the human RecQ helicase in double-strand break repair through nonhomologous end-joining
	cooperative function of RECQLs and PARP1 represents an important factor for maintaining genome integrity
	RECQL limits DNA2 activity by preventing extensive nascent strand degradation
	conserved collaboration of RECQL with FEN1, suggesting both overlapping and specialized roles of RECQL in the processing of DNA structure intermediates proposed to arise during replication, repair and recombination

cell & other

REGULATION

Other

upregulated at the G2/M stage of the cell cycle

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to pancreatic cancer with reduced survival

Variant & Polymorphism SNP	increasing the risk of pancreatic cancer with reduced survival

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer head and neck   RECQL and WRN proteins are potential therapeutic targets in head and neck squamous cell carcinoma

ANIMAL & CELL MODELS