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Aliases for RECQL5 Gene

Aliases for RECQL5 Gene

  • RecQ Like Helicase 5 2 3 5
  • DNA Helicase, RecQ-Like Type 5 3 4
  • RecQ Protein-Like 5 3 4
  • RECQ5 3 4
  • ATP-Dependent DNA Helicase Q5 3
  • RecQ Helicase-Like 5 3
  • RecQ Protein 5 2
  • EC 3.6.4.12 4
  • EC 3.6.1 58

External Ids for RECQL5 Gene

Previous GeneCards Identifiers for RECQL5 Gene

  • GC17M073593
  • GC17M076648
  • GC17M074087
  • GC17M074220
  • GC17M071134
  • GC17M073622
  • GC17M069046

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 Like Helicase 5) is a Protein Coding gene. Diseases associated with RECQL5 include Bloom Syndrome and Werner Syndrome. Among its related pathways are DNA Damage. GO annotations related to this gene include nucleic acid binding and ATP-dependent 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

Additional gene information for RECQL5 Gene

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

Genomics for RECQL5 Gene

Regulatory Elements for RECQL5 Gene

Enhancers for RECQL5 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
GH17H075638 1.9 FANTOM5 Ensembl ENCODE dbSUPER 23.4 +23.5 23479 9 HDGF PKNOX1 FOXA2 ATF1 MLX ARID4B SIN3A DMAP1 ZBTB7B YY1 RECQL5 ENSG00000266980 GGA3 NT5C NUP85 UNK SAP30BP TRIM65 MYO15B ENSG00000267342
GH17H075683 1.9 FANTOM5 Ensembl ENCODE dbSUPER 23.2 -25.7 -25688 19 HDGF PKNOX1 MLX ARID4B SIN3A ZBTB7B ZNF207 FOS DEK SP5 RECQL5 ENSG00000266980 ITGB4 NT5C NUP85 UNK SAP30BP SMIM5 GALK1 TRIM65
GH17H075632 1.9 FANTOM5 Ensembl ENCODE dbSUPER 22 +31.9 31890 5 HDGF PKNOX1 MLX ARID4B SIN3A ZNF2 GLIS2 ZNF207 ZNF143 ATF7 MYO15B RECQL5 NT5C NUP85 UNK SMIM5 ENSG00000266980 SAP30BP TRIM65 GGA3
GH17H075288 2.1 FANTOM5 Ensembl ENCODE dbSUPER 14.6 +373.5 373533 10 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC SSRP1 ZNF610 GRB2 NUP85 ENSG00000266980 UNK RECQL5 CDK3 SLC25A19 GGA3 H3F3B TMEM94
GH17H075455 2 FANTOM5 Ensembl ENCODE dbSUPER 14.6 +208.9 208949 6 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 TMEM94 NUP85 RECQL5 CDK3 ENSG00000266980 UNK SRP68 LLGL2 CDR2L SLC25A19
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RECQL5 on UCSC Golden Path with GeneCards custom track

Genomic Location for RECQL5 Gene

Chromosome:
17
Start:
75,626,845 bp from pter
End:
75,667,191 bp from pter
Size:
40,347 bases
Orientation:
Minus strand

Genomic View for RECQL5 Gene

Genes around RECQL5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RECQL5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RECQL5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Selected DME Specific Peptides for RECQL5 Gene

O94762:
  • GKSLCYQ
  • SQWGHDFR
  • LVVDEAH
  • YYQESGRAGRD

Post-translational modifications for RECQL5 Gene

  • Ubiquitination at Lys22
  • Modification sites at PhosphoSitePlus

Domains & Families for RECQL5 Gene

Gene Families for RECQL5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

O94762

UniProtKB/Swiss-Prot:

RECQ5_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 RECQL5: view

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

Phenotypes From GWAS Catalog 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 IBA --
GO:0003678 DNA helicase activity NAS,TAS 10710432
GO:0004386 helicase activity IEA --
genes like me logo Genes that share ontologies with RECQL5: view
genes like me logo Genes that share phenotypes with RECQL5: view

Animal Models for RECQL5 Gene

MGI Knock Outs for RECQL5:

Animal Model Products

  • Taconic Biosciences Mouse Models for RECQL5

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets 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. {ECO:0000269 PubMed:20643585, ECO:0000269 PubMed:22013166, ECO:0000269 PubMed:22973052, ECO:0000269 PubMed:23715498}.
Isoform Alpha: Cytoplasm.
Isoform Gamma: Cytoplasm.

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 RECQL5 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RECQL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 22013166
GO:0005654 nucleoplasm NAS 10710432
GO:0005694 chromosome IBA --
GO:0005737 cytoplasm IBA,NAS 10710432
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with RECQL5: view

Pathways & Interactions for RECQL5 Gene

SuperPathways for RECQL5 Gene

SuperPathway Contained pathways
1 DNA Damage
genes like me logo Genes that share pathways with RECQL5: view

Pathways by source for RECQL5 Gene

1 Cell Signaling Technology pathway for RECQL5 Gene

Gene Ontology (GO) - Biological Process for RECQL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle IMP 22013166
GO:0000724 double-strand break repair via homologous recombination IBA --
GO:0006259 DNA metabolic process NAS 10710432
GO:0006260 DNA replication IMP 22013166
GO:0006281 DNA repair TAS,IMP 22973052
genes like me logo Genes that share ontologies with RECQL5: view

No data available for SIGNOR curated interactions for RECQL5 Gene

Drugs & Compounds for RECQL5 Gene

(3) Drugs for RECQL5 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
ATP Nutra Agonist 0

(1) Additional Compounds for RECQL5 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 RECQL5: view

Transcripts for RECQL5 Gene

mRNA/cDNA for RECQL5 Gene

(13) 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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for RECQL5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RECQL5 Gene

This gene is overexpressed in Lung (29.8), Saliva (11.4), and Bone marrow stromal cell (10.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RECQL5 Gene



NURSA nuclear receptor signaling pathways regulating expression of RECQL5 Gene:

RECQL5

SOURCE GeneReport for Unigene cluster for RECQL5 Gene:

Hs.632229

mRNA Expression by UniProt/SwissProt for RECQL5 Gene:

O94762-RECQ5_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for RECQL5 Gene

  • Intestine(4.3)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with RECQL5: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for RECQL5 Gene

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 33 34
  • 99.16 (n)
dog
(Canis familiaris)
Mammalia RECQL5 33 34
  • 87.02 (n)
cow
(Bos Taurus)
Mammalia RECQL5 33 34
  • 85.52 (n)
mouse
(Mus musculus)
Mammalia Recql5 33 16 34
  • 82.2 (n)
rat
(Rattus norvegicus)
Mammalia Recql5 33
  • 81.38 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RECQL5 34
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RECQL5 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves RECQL5 33 34
  • 64.56 (n)
lizard
(Anolis carolinensis)
Reptilia RECQL5 34
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia recql5 33
  • 62.11 (n)
zebrafish
(Danio rerio)
Actinopterygii recql5 33
  • 56.92 (n)
recql5l 34
  • 49 (a)
OneToOne
Dr.28571 33
fruit fly
(Drosophila melanogaster)
Insecta RecQ5 34
  • 33 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rcq-5 33 34
  • 46.59 (n)
wrn-1 35
  • 36 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SGS1 34
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 53 (a)
OneToOne
Species where no ortholog for RECQL5 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)
  • 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

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
rs1000031005 -- 75,658,176(+) GCTAT(A/G/T)CTTAC intron-variant
rs1000045499 -- 75,632,266(+) CATAC(A/G)GTACT intron-variant, upstream-variant-2KB
rs1000059605 -- 75,635,014(+) GGGCC(C/T)GTGAG intron-variant, upstream-variant-2KB, utr-variant-3-prime
rs1000127169 -- 75,627,935(+) AATGG(C/T)GTGAA intron-variant
rs1000140249 -- 75,646,101(+) TTGTG(A/C)CAGTG intron-variant, upstream-variant-2KB, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
nsv470603 CNV loss 18288195
nsv516133 CNV loss 19592680
nsv576027 CNV gain 21841781
nsv576032 CNV gain 21841781
nsv833543 CNV loss 17160897
nsv833544 CNV loss 17160897

Variation tolerance for RECQL5 Gene

Residual Variation Intolerance Score: 54.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.99; 89.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RECQL5 Gene

Human Gene Mutation Database (HGMD)
RECQL5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RECQL5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RECQL5 Gene

Disorders for RECQL5 Gene

MalaCards: The human disease database

(5) MalaCards diseases for RECQL5 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bloom syndrome
  • bloom-torre-machacek syndrome
werner syndrome
  • adult premature ageing syndrome
rothmund-thomson syndrome
  • congenital poikiloderma
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

Relevant External Links for RECQL5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RECQL5
genes like me logo Genes that share disorders with RECQL5: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 22 60
  2. RecQL5 promotes genome stabilization through two parallel mechanisms--interacting with RNA polymerase II and acting as a helicase. (PMID: 20231364) Islam MN … Wang W (Molecular and cellular biology 2010) 3 4 22 60
  3. Human RecQ5beta, a large isomer of RecQ5 DNA helicase, localizes in the nucleoplasm and interacts with topoisomerases 3alpha and 3beta. (PMID: 10710432) Shimamoto A … Furuichi Y (Nucleic acids research 2000) 3 4 22 60
  4. Drosophila and human RecQ5 exist in different isoforms generated by alternative splicing. (PMID: 10471747) Sekelsky JJ … Hawley RS (Nucleic acids research 1999) 3 4 22 60
  5. Structural mimicry in transcription regulation of human RNA polymerase II by the DNA helicase RECQL5. (PMID: 23748380) Kassube SA … Nogales E (Nature structural & molecular biology 2013) 3 4 60

Products for RECQL5 Gene

Sources for RECQL5 Gene

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