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Aliases for RECQL Gene

Aliases for RECQL Gene

  • RecQ Like Helicase 2 3
  • RecQ Helicase-Like 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
  • RECQL1 3 4
  • RecQ1 3 4
  • DNA Helicase Q1-Like 2
  • EC 3.6.4.12 4
  • EC 3.6.1 63

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. Some members of this family are associated with genetic disorders with predisposition to malignancy and chromosomal instability. The biological function of this helicase has not yet been determined. Two alternatively spliced transcripts, which encode the same isoform but differ in their 5' and 3' UTRs, have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for RECQL Gene

RECQL (RecQ Like Helicase) is a Protein Coding gene. Diseases associated with RECQL include werner syndrome and rothmund-thomson 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 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around RECQL on UCSC Golden Path with GeneCards custom track

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

Proteomics data for RECQL Gene at MOPED

Selected DME Specific Peptides for RECQL Gene

Post-translational modifications for RECQL Gene

  • Ubiquitination at Lys 38, Lys 47, and Lys 91
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for RECQL (RECQL)

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 :
  • Contains 1 helicase ATP-binding domain.
  • Belongs to the helicase family. RecQ subfamily.
Domain:
  • Contains 1 helicase ATP-binding domain.
  • Contains 1 helicase C-terminal domain.
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:0004003 ATP-dependent DNA helicase activity TAS 7961977
GO:0005524 ATP binding IEA --
GO:0009378 four-way junction helicase activity IBA --
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

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
Jensen Localization Image for RECQL Gene 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:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with RECQL: view

Pathways & Interactions for RECQL Gene

SuperPathways for RECQL Gene

Superpath 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
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

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

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

(3) 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
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
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 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, MOPED, and MaxQB for RECQL Gene



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.
genes like me logo Genes that share expression patterns with RECQL: view

Protein tissue co-expression partners for RECQL Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia RECQL 35
  • 90.04 (n)
  • 90.45 (a)
RECQL 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RECQL 35
  • 90.25 (n)
  • 88.7 (a)
RECQL 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Recql 35
  • 81.12 (n)
  • 85.19 (a)
Recql 16
Recql 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RECQL 35
  • 99.44 (n)
  • 99.69 (a)
RECQL 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Recql 35
  • 80.58 (n)
  • 83.5 (a)
oppossum
(Monodelphis domestica)
Mammalia RECQL 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 46 (a)
OneToMany
-- 36
  • 57 (a)
OneToMany
chicken
(Gallus gallus)
Aves RECQL 35
  • 73.12 (n)
  • 73.53 (a)
RECQL 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RECQL 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia recql 35
  • 67.33 (n)
  • 75.72 (a)
Str.18330 35
zebrafish
(Danio rerio)
Actinopterygii recql 35
  • 59.46 (n)
  • 58.21 (a)
recql 36
  • 57 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea K02F3.12 37
  • 42 (a)
K02F3.12 35
  • 54.39 (n)
  • 47.5 (a)
K02F3.12 36
  • 44 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SGS1 36
  • 17 (a)
OneToMany
SGS1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons RECQL2 35
  • 52.89 (n)
  • 44.79 (a)
rice
(Oryza sativa)
Liliopsida Os.19577 35
Os11g0708600 35
  • 54.73 (n)
  • 47.24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 47 (a)
OneToMany
-- 36
  • 42 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7598 35
Species with no ortholog for RECQL:
  • 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
VAR_016140 -
VAR_016141 -
rs1065751 - 21,490,289(-) TTAAC(A/G)TAACA reference, missense
rs2230003 - 21,475,570(-) CAACT(A/C/G)TTGCA reference, missense
rs7297524 -- 21,496,703(+) agata(C/T)ctctt intron-variant

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

Variant ID Type Subtype PubMed ID
nsv898895 CNV Loss 21882294
nsv898896 CNV Gain 21882294
esv268148 CNV Insertion 20981092

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

HapMap Linkage Disequilibrium report
RECQL
Human Gene Mutation Database (HGMD)
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
werner syndrome
  • adult premature ageing syndrome
rothmund-thomson syndrome
  • erythrokeratodermia variabilis
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. 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 23 67
  2. 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 23
  3. The Human RecQ helicases, BLM and RECQ1, display distinct DNA substrate specificities. (PMID: 18448429) Popuri V. … Vindigni A. (J. Biol. Chem. 2008) 3 23
  4. Human RECQ1 is a DNA damage responsive protein required for genotoxic stress resistance and suppression of sister chromatid exchanges. (PMID: 18074021) Sharma S. … Brosh R.M. (PLoS ONE 2007) 3 23
  5. Biochemical analysis of the DNA unwinding and strand annealing activities catalyzed by human RECQ1. (PMID: 15899892) Sharma S. … Brosh R.M. (J. Biol. Chem. 2005) 3 23

Products for RECQL Gene

Sources for RECQL Gene

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