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Aliases for RECQL Gene

Aliases for RECQL Gene

  • RecQ Like Helicase 2 3 5
  • RecQ Protein-Like (DNA Helicase Q1-Like) 2 3
  • DNA Helicase, RecQ-Like Type 1 3 4
  • DNA-Dependent ATPase Q1 3 4
  • RecQ Protein-Like 1 3 4
  • RecQ Helicase-Like 2 3
  • RECQL1 3 4
  • RecQ1 3 4
  • ATP-Dependent DNA Helicase Q1 3
  • DNA Helicase Q1-Like 2
  • EC 3.6.4.12 4
  • EC 3.6.1 61

External Ids for RECQL Gene

Previous GeneCards Identifiers for RECQL Gene

  • GC12M021908
  • GC12M021624
  • GC12M021522
  • GC12M021513
  • GC12M021621
  • GC12M021395

Summaries for RECQL Gene

Entrez Gene Summary for RECQL Gene

  • The protein encoded by this gene is a member of the RecQ DNA helicase family. DNA helicases are enzymes involved in various types of DNA repair, including mismatch repair, nucleotide excision repair and direct repair. The encoded protein is involved in the processing of Holliday junctions, the suppression of sister chromatid exchanges, telomere maintenance, and is required for genotoxic stress resistance. Defects in this gene have been associated with several types of cancer. [provided by RefSeq, Jan 2017]

GeneCards Summary for RECQL Gene

RECQL (RecQ Like Helicase) is a Protein Coding gene. Diseases associated with RECQL include Rothmund-Thomson Syndrome and Werner Syndrome. Among its related pathways are DNA Damage. GO annotations related to this gene include nucleic acid binding and ATP-dependent DNA helicase activity. An important paralog of this gene is BLM.

UniProtKB/Swiss-Prot for RECQL Gene

  • DNA helicase that may play a role in the repair of DNA that is damaged by ultraviolet light or other mutagens. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3-5 direction.

Gene Wiki entry for RECQL Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RECQL Gene

Genomics for RECQL Gene

Regulatory Elements for RECQL Gene

Enhancers for RECQL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G021500 1.1 ENCODE 9.3 0.0 -36 2.7 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF207 FOS PAF1 SP3 PYROXD1 RECQL GOLT1B
GH12G021509 0.6 ENCODE 4.6 -8.2 -8161 1.0 SREBF1 RAD51 POLR2A USF2 ASH2L SIN3A PYROXD1 SPX ENSG00000256615 LDHB RECQL GOLT1B
GH12G021455 0.5 ENCODE 4.6 +44.4 44449 3.0 JUND TCF7 FOS ZBTB40 PYROXD1 SPX RECQL PIR48184
GH12G021452 0.5 ENCODE 0.2 +48.4 48360 1.6 MTA2 IKZF1 RELB IKZF2 TBX21 PYROXD1 PIR48184 RECQL
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RECQL on UCSC Golden Path with GeneCards custom track

Promoters for RECQL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000049633 -131 2401 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF207 FOS PAF1 SP3

Genomic Location for RECQL Gene

Chromosome:
12
Start:
21,468,910 bp from pter
End:
21,501,669 bp from pter
Size:
32,760 bases
Orientation:
Minus strand

Genomic View for RECQL Gene

Genes around RECQL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RECQL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RECQL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RECQL Gene

Proteins for RECQL Gene

  • Protein details for RECQL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P46063-RECQ1_HUMAN
    Recommended name:
    ATP-dependent DNA helicase Q1
    Protein Accession:
    P46063
    Secondary Accessions:
    • A8K6G2

    Protein attributes for RECQL Gene

    Size:
    649 amino acids
    Molecular mass:
    73457 Da
    Quaternary structure:
    • Interacts with EXO1 and MLH1.
    SequenceCaution:
    • Sequence=AAA60261.1; Type=Frameshift; Positions=615, 649; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RECQL Gene

neXtProt entry for RECQL Gene

Selected DME Specific Peptides for RECQL Gene

P46063:
  • AFGMGIDKPDVR
  • GKSLCYQ
  • YYQESGRAGRD
  • SQWGHDFR
  • LINGRYKG
  • ADCILYY
  • QLGISATMLN

Post-translational modifications for RECQL Gene

  • Ubiquitination at Lys38, Lys47, and Lys91
  • Modification sites at PhosphoSitePlus

Domains & Families for RECQL Gene

Gene Families for RECQL Gene

Suggested Antigen Peptide Sequences for RECQL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P46063

UniProtKB/Swiss-Prot:

RECQ1_HUMAN :
  • Belongs to the helicase family. RecQ subfamily.
Family:
  • Belongs to the helicase family. RecQ subfamily.
genes like me logo Genes that share domains with RECQL: view

Function for RECQL Gene

Molecular function for RECQL Gene

GENATLAS Biochemistry:
DNA helicase with DNA dependent ATPase activity isolated from HeLa cells,ubiquitously expressed,upregulated at the G2/M stage of the cell cycle,putatively involved in DNA repair and/or chromosome segregation,RecQl family
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Function:
DNA helicase that may play a role in the repair of DNA that is damaged by ultraviolet light or other mutagens. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3-5 direction.

Enzyme Numbers (IUBMB) for RECQL Gene

Gene Ontology (GO) - Molecular Function for RECQL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA,IBA --
GO:0003678 DNA helicase activity IDA,TAS 11562355
GO:0004003 ATP-dependent DNA helicase activity TAS 7961977
GO:0004386 helicase activity IEA --
genes like me logo Genes that share ontologies with RECQL: view
genes like me logo Genes that share phenotypes with RECQL: view

Animal Models for RECQL Gene

MGI Knock Outs for RECQL:

Animal Model Products

  • Taconic Biosciences Mouse Models for RECQL

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RECQL Gene

Localization for RECQL Gene

Subcellular locations from UniProtKB/Swiss-Prot for RECQL Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RECQL gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for RECQL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,TAS --
GO:0005654 nucleoplasm IDA --
GO:0005694 chromosome IBA --
GO:0005737 cytoplasm IBA --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with RECQL: view

Pathways & Interactions for RECQL Gene

SuperPathways for RECQL Gene

SuperPathway Contained pathways
1 DNA Damage
genes like me logo Genes that share pathways with RECQL: view

Pathways by source for RECQL Gene

1 Cell Signaling Technology pathway for RECQL Gene

Gene Ontology (GO) - Biological Process for RECQL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000724 double-strand break repair via homologous recombination IBA --
GO:0000733 DNA strand renaturation IDA 19177149
GO:0006281 DNA repair TAS 7961977
GO:0006310 DNA recombination IEA --
GO:0032508 DNA duplex unwinding IEA --
genes like me logo Genes that share ontologies with RECQL: view

No data available for SIGNOR curated interactions for RECQL Gene

Drugs & Compounds for RECQL Gene

(5) Drugs for RECQL Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0
Magnesium Nutra 0

(1) Additional Compounds for RECQL Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with RECQL: view

Transcripts for RECQL Gene

Unigene Clusters for RECQL Gene

RecQ protein-like (DNA helicase Q1-like):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RECQL Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c · 4d · 4e ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
SP1:
SP2:
SP3: -
SP4: - -
SP5: - -
SP6: - - -
SP7: - - - -
SP8: - - -
SP9:

Relevant External Links for RECQL Gene

GeneLoc Exon Structure for
RECQL
ECgene alternative splicing isoforms for
RECQL

Expression for RECQL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RECQL Gene

Protein differential expression in normal tissues from HIPED for RECQL Gene

This gene is overexpressed in Lymph node (28.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RECQL Gene



Protein tissue co-expression partners for RECQL Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RECQL Gene:

RECQL

SOURCE GeneReport for Unigene cluster for RECQL Gene:

Hs.235069

mRNA Expression by UniProt/SwissProt for RECQL Gene:

P46063-RECQ1_HUMAN
Tissue specificity: High expression in heart, lung, skeletal muscle and kidney, low expression in brain.

Evidence on tissue expression from TISSUES for RECQL Gene

  • Liver(4.2)
  • Lung(4.2)
  • Nervous system(2.9)
genes like me logo Genes that share expression patterns with RECQL: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RECQL Gene

Orthologs for RECQL Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RECQL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RECQL 34 35
  • 99.44 (n)
dog
(Canis familiaris)
Mammalia RECQL 34 35
  • 90.25 (n)
cow
(Bos Taurus)
Mammalia RECQL 34 35
  • 90.04 (n)
oppossum
(Monodelphis domestica)
Mammalia RECQL 35
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Recql 34 16 35
  • 81.12 (n)
rat
(Rattus norvegicus)
Mammalia Recql 34
  • 80.58 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 57 (a)
OneToMany
-- 35
  • 46 (a)
OneToMany
chicken
(Gallus gallus)
Aves RECQL 34 35
  • 73.12 (n)
lizard
(Anolis carolinensis)
Reptilia RECQL 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia recql 34
  • 67.33 (n)
Str.18330 34
zebrafish
(Danio rerio)
Actinopterygii recql 34 35
  • 59.46 (n)
worm
(Caenorhabditis elegans)
Secernentea K02F3.12 36 34 35
  • 54.39 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SGS1 35 37
  • 17 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons RECQL2 34
  • 52.89 (n)
rice
(Oryza sativa)
Liliopsida Os11g0708600 34
  • 54.73 (n)
Os.19577 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 47 (a)
OneToMany
-- 35
  • 42 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7598 34
Species where no ortholog for RECQL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RECQL Gene

ENSEMBL:
Gene Tree for RECQL (if available)
TreeFam:
Gene Tree for RECQL (if available)

Paralogs for RECQL Gene

Paralogs for RECQL Gene

(3) SIMAP similar genes for RECQL Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for RECQL Gene

genes like me logo Genes that share paralogs with RECQL: view

Variants for RECQL Gene

Sequence variations from dbSNP and Humsavar for RECQL Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000133091 -- 21,495,467(+) GGCGG(A/G)CGCCT intron-variant
rs1000184439 -- 21,480,091(+) GAGAG(A/T)GGTAA intron-variant
rs1000385481 -- 21,476,477(+) CAACT(C/T)GATCT intron-variant
rs1000401080 -- 21,482,764(+) AAGGA(A/C)AACAG intron-variant
rs1000479322 -- 21,489,666(+) TCCTA(A/C)AACAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RECQL Gene

Variant ID Type Subtype PubMed ID
esv3303869 CNV mobile element insertion 20981092
esv3341944 CNV insertion 20981092
nsv1054220 CNV gain 25217958
nsv557741 CNV gain 21841781
nsv975459 CNV duplication 23825009

Variation tolerance for RECQL Gene

Residual Variation Intolerance Score: 45.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.97; 68.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RECQL Gene

Human Gene Mutation Database (HGMD)
RECQL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RECQL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RECQL Gene

Disorders for RECQL Gene

MalaCards: The human disease database

(6) MalaCards diseases for RECQL Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
rothmund-thomson syndrome
  • erythrokeratodermia variabilis
werner syndrome
  • adult premature ageing syndrome
bloom syndrome
  • bloom-torre-machacek syndrome
rapadilino syndrome
  • absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate
baller-gerold syndrome
  • bgs
- elite association - COSMIC cancer census association via MalaCards
Search RECQL in MalaCards View complete list of genes associated with diseases

Relevant External Links for RECQL

Genetic Association Database (GAD)
RECQL
Human Genome Epidemiology (HuGE) Navigator
RECQL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RECQL
genes like me logo Genes that share disorders with RECQL: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RECQL Gene

Publications for RECQL Gene

  1. Molecular cloning of cDNA encoding human DNA helicase Q1 which has homology to Escherichia coli Rec Q helicase and localization of the gene at chromosome 12p12. (PMID: 7527136) Seki M. … Enomoto T. (Nucleic Acids Res. 1994) 2 3 4 22 64
  2. Cloning and characterization of RECQL, a potential human homologue of the Escherichia coli DNA helicase RecQ. (PMID: 7961977) Puranam K.L. … Blackshear P.J. (J. Biol. Chem. 1994) 2 3 4 22 64
  3. RECQ1 helicase interacts with human mismatch repair factors that regulate genetic recombination. (PMID: 15886194) Doherty K.M. … Brosh R.M. Jr. (J. Biol. Chem. 2005) 3 4 22 64
  4. Purification of two DNA-dependent adenosinetriphosphatases having DNA helicase activity from HeLa cells and comparison of the properties of the two enzymes. (PMID: 8056767) Seki M. … Enomoto T. (J. Biochem. 1994) 3 4 22 64
  5. DNA repair gene polymorphisms and risk of pancreatic cancer. (PMID: 19147782) Li D. … Abbruzzese J.L. (Clin. Cancer Res. 2009) 3 46 64

Products for RECQL Gene

Sources for RECQL Gene

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