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Aliases for RECQL5 Gene

Aliases for RECQL5 Gene

  • RecQ Protein-Like 5 2 3 4
  • RECQ5 3 4 6
  • DNA Helicase, RecQ-Like Type 5 3 4
  • ATP-Dependent DNA Helicase Q5 3
  • RecQ Protein 5 2
  • EC 3.6.4.12 4
  • EC 3.6.1 64

External Ids for RECQL5 Gene

Summaries for RECQL5 Gene

Entrez Gene Summary for RECQL5 Gene

  • The protein encoded by this gene is a helicase that is important for genome stability. The encoded protein also prevents aberrant homologous recombination by displacing RAD51 from ssDNA. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]

GeneCards Summary for RECQL5 Gene

RECQL5 (RecQ Protein-Like 5) is a Protein Coding gene. Diseases associated with RECQL5 include rothmund-thomson syndrome and rapadilino syndrome. Among its related pathways are Cell Cycle / Checkpoint Control and Cell Cycle / Checkpoint Control. GO annotations related to this gene include nucleic acid binding and DNA helicase activity. An important paralog of this gene is BLM.

UniProtKB/Swiss-Prot for RECQL5 Gene

  • Isoform beta is a DNA helicase that plays an important role in DNA replication, transcription and repair. Inhibits elongation of stalled transcripts at DNA damage sites by binding to the RNA polymerase II subunit POLR2A and blocking the TCEA1 binding site. Required for mitotic chromosome separation after cross-over events and cell cycle progress. Required for efficient DNA repair, including repair of inter-strand cross-links. Stimulates DNA decatenation mediated by TOP2A. Prevents sister chromatid exchange and homologous recombination.

Gene Wiki entry for RECQL5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RECQL5 Gene

Genomics for RECQL5 Gene

Genomic Location for RECQL5 Gene

Start:
75,626,845 bp from pter
End:
75,667,190 bp from pter
Size:
40,346 bases
Orientation:
Minus strand

Genomic View for RECQL5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RECQL5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RECQL5 Gene

Regulatory Elements for RECQL5 Gene

Proteins for RECQL5 Gene

  • Protein details for RECQL5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94762-RECQ5_HUMAN
    Recommended name:
    ATP-dependent DNA helicase Q5
    Protein Accession:
    O94762
    Secondary Accessions:
    • Q6P4G0
    • Q9H0B1
    • Q9P1W7
    • Q9UNC8

    Protein attributes for RECQL5 Gene

    Size:
    991 amino acids
    Molecular mass:
    108858 Da
    Quaternary structure:
    • Monomer. Interacts with TOP2A, TOP3A and TOP3B. Isoform beta interacts with RNA polymerase II subunit POLR2A. Identified in a complex with the RNA polymerase II core bound to DNA. Isoform beta interacts with RAD51.

    Three dimensional structures from OCA and Proteopedia for RECQL5 Gene

    Alternative splice isoforms for RECQL5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RECQL5 Gene

Proteomics data for RECQL5 Gene at MOPED

Selected DME Specific Peptides for RECQL5 Gene

Post-translational modifications for RECQL5 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys22

Domains for RECQL5 Gene

UniProtKB/Swiss-Prot:

RECQ5_HUMAN
Domain:
  • Contains 1 helicase ATP-binding domain.:
    • O94762
  • Contains 1 helicase C-terminal domain.:
    • O94762
Family:
  • Belongs to the helicase family. RecQ subfamily.:
    • O94762
genes like me logo Genes that share domains with RECQL5: view

No data available for Gene Families for RECQL5 Gene

Function for RECQL5 Gene

Molecular function for RECQL5 Gene

GENATLAS Biochemistry: DNA helicase ATP dependent,homologous to E coli RecQ,ubiquitously expressed,upregulated at the G2-M stage of the cell cycle,RecQl family
UniProtKB/Swiss-Prot CatalyticActivity: ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Function: Isoform beta is a DNA helicase that plays an important role in DNA replication, transcription and repair. Inhibits elongation of stalled transcripts at DNA damage sites by binding to the RNA polymerase II subunit POLR2A and blocking the TCEA1 binding site. Required for mitotic chromosome separation after cross-over events and cell cycle progress. Required for efficient DNA repair, including repair of inter-strand cross-links. Stimulates DNA decatenation mediated by TOP2A. Prevents sister chromatid exchange and homologous recombination.

Enzyme Numbers (IUBMB) for RECQL5 Gene

Gene Ontology (GO) - Molecular Function for RECQL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000993 RNA polymerase II core binding IDA 23748380
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding --
GO:0003678 DNA helicase activity NAS 10710432
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with RECQL5: view

Phenotypes for RECQL5 Gene

MGI mutant phenotypes for RECQL5:
inferred from 2 alleles
GenomeRNAi human phenotypes for RECQL5:
genes like me logo Genes that share phenotypes with RECQL5: view

Animal Models for RECQL5 Gene

MGI Knock Outs for RECQL5:

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for RECQL5 Gene

Localization for RECQL5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RECQL5 Gene

Isoform Beta: Nucleus, nucleoplasm. Note=Recruited to sites of DNA damage, such as single-strand breaks and inter-strand cross-links, and at stalled replication forks.
Isoform Alpha: Cytoplasm.
Isoform Gamma: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RECQL5 Gene COMPARTMENTS Subcellular localization image for RECQL5 gene
Compartment Confidence
nucleus 5
cytosol 4
mitochondrion 1

Gene Ontology (GO) - Cellular Components for RECQL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm NAS 10710432
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm NAS 10710432
GO:0016591 DNA-directed RNA polymerase II, holoenzyme IDA 22231121
genes like me logo Genes that share ontologies with RECQL5: view

Pathways for RECQL5 Gene

genes like me logo Genes that share pathways with RECQL5: view

Pathways by source for RECQL5 Gene

2 Cell Signaling Technology pathways for RECQL5 Gene

Gene Ontology (GO) - Biological Process for RECQL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0006259 DNA metabolic process NAS 10710432
GO:0006260 DNA replication IMP 22013166
GO:0006281 DNA repair IMP 22973052
GO:0006310 DNA recombination IEA --
genes like me logo Genes that share ontologies with RECQL5: view

Transcripts for RECQL5 Gene

mRNA/cDNA for RECQL5 Gene

(12) REFSEQ mRNAs :
(14) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(19) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RECQL5 Gene

RecQ protein-like 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RECQL5 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b · 10c · 10d ^ 11a · 11b ^ 12a · 12b ^
SP1: - - - - - - - - - - - - - -
SP2: - - - - - - - - - - - - - - -
SP3: - - -
SP4: -
SP5: - -
SP6: - - - -
SP7: - - - - - - - - - - -
SP8:
SP9:
SP10: - -
SP11: -
SP12: - -
SP13:

ExUns: 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for RECQL5 Gene

GeneLoc Exon Structure for
RECQL5
ECgene alternative splicing isoforms for
RECQL5

Expression for RECQL5 Gene

mRNA expression in normal human tissues for RECQL5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RECQL5 Gene

SOURCE GeneReport for Unigene cluster for RECQL5 Gene Hs.632229

mRNA Expression by UniProt/SwissProt for RECQL5 Gene

O94762-RECQ5_HUMAN
Tissue specificity: Ubiquitous
genes like me logo Genes that share expressions with RECQL5: view

Orthologs for RECQL5 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RECQL5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RECQL5 36
  • 99.16 (n)
  • 98.69 (a)
RECQL5 37
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RECQL5 36
  • 85.52 (n)
  • 81.28 (a)
RECQL5 37
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RECQL5 36
  • 87.02 (n)
  • 83.87 (a)
RECQL5 37
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Recql5 36
  • 82.2 (n)
  • 79 (a)
Recql5 16
Recql5 37
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RECQL5 37
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RECQL5 37
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Recql5 36
  • 81.38 (n)
  • 77.78 (a)
chicken
(Gallus gallus)
Aves RECQL5 36
  • 64.56 (n)
  • 62.42 (a)
RECQL5 37
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RECQL5 37
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia recql5 36
  • 62.11 (n)
  • 59.07 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.28571 36
recql5 36
  • 56.92 (n)
  • 51.65 (a)
recql5l 37
  • 49 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta RecQ5 37
  • 33 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rcq-5 36
  • 46.59 (n)
  • 40.1 (a)
rcq-5 37
  • 27 (a)
OneToOne
wrn-1 38
  • 36 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SGS1 37
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 53 (a)
OneToOne
Species with no ortholog for RECQL5:
  • 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)
  • 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 (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RECQL5 Gene

ENSEMBL:
Gene Tree for RECQL5 (if available)
TreeFam:
Gene Tree for RECQL5 (if available)

Paralogs for RECQL5 Gene

Paralogs for RECQL5 Gene

Pseudogenes.org Pseudogenes for RECQL5 Gene

genes like me logo Genes that share paralogs with RECQL5: view

Variants for RECQL5 Gene

Sequence variations from dbSNP and Humsavar for RECQL5 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs750339 -- 75,651,286(+) GACCA(C/T)TTAGC intron-variant
rs820158 -- 75,664,099(-) AGTGC(C/T)TTACA intron-variant
rs820159 -- 75,662,409(-) AGATT(A/G)GTCTA intron-variant
rs820160 -- 75,660,507(-) TTCAG(C/T)GCAGT intron-variant
rs820190 -- 75,629,206(-) GGCAG(C/T)TCCCT reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for RECQL5 Gene

Variant ID Type Subtype PubMed ID
nsv516133 CNV Loss 19592680
dgv3256n71 CNV Loss 21882294
nsv470603 CNV Loss 18288195
nsv833543 CNV Loss 17160897
dgv3259n71 CNV Loss 21882294
dgv3260n71 CNV Loss 21882294
dgv3262n71 CNV Loss 21882294
nsv908794 CNV Loss 21882294
dgv3264n71 CNV Loss 21882294
nsv833544 CNV Loss 17160897
nsv908800 CNV Loss 21882294

Relevant External Links for RECQL5 Gene

HapMap Linkage Disequilibrium report
RECQL5

Disorders for RECQL5 Gene

(5) Novoseek inferred disease relationships for RECQL5 Gene

Disease -log(P) Hits PubMed IDs
rothmund-thomson syndrome 94.9 2
bloom syndrome 90.9 2
werner syndrome 86.1 1
genetic disorder 32.4 1
cancer 21.2 1
genes like me logo Genes that share disorders with RECQL5: view

No data available for UniProtKB/Swiss-Prot for RECQL5 Gene

Publications for RECQL5 Gene

  1. Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes. (PMID: 9878247) Kitao S. … Shimamoto A. (Genomics 1998) 2 3 4 23
  2. Drosophila and human RecQ5 exist in different isoforms generated by alternative splicing. (PMID: 10471747) Sekelsky J.J. … Hawley R.S. (Nucleic Acids Res. 1999) 3 4 23
  3. Human RecQ5-beta, a large isomer of RecQ5 DNA helicase, localizes in the nucleoplasm and interacts with topoisomerases 3-alpha and 3- beta. (PMID: 10710432) Shimamoto A. … Furuichi Y. (Nucleic Acids Res. 2000) 3 4 23
  4. RecQL5 promotes genome stabilization through two parallel mechanisms--interacting with RNA polymerase II and acting as a helicase. (PMID: 20231364) Islam M.N. … Wang W. (Mol. Cell. Biol. 2010) 3 4 23
  5. Physical interaction of RECQ5 helicase with RAD51 facilitates its anti-recombinase activity. (PMID: 20348101) Schwendener S. … Janscak P. (J. Biol. Chem. 2010) 3 4

Products for RECQL5 Gene

Sources for RECQL5 Gene

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