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] See more...
Aliases for RECQL5 Gene
Aliases for RECQL5 Gene
External Ids for RECQL5 Gene
- HGNC: 9950
- Entrez Gene: 9400
- Ensembl: ENSG00000108469
- OMIM: 603781
- UniProtKB: O94762
Previous GeneCards Identifiers for RECQL5 Gene
- GC17M073593
- GC17M076648
- GC17M074087
- GC17M074220
- GC17M071134
- GC17M073622
- GC17M069046
Summaries 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 Rothmund-Thomson Syndrome. Among its related pathways are DNA Damage. Gene Ontology (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 Summary 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.
Additional gene information for RECQL5 Gene
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RECQL5 Gene
Genomics for RECQL5 Gene
GeneHancer (GH) Regulatory Elements for RECQL5 Gene
Promoters and enhancers for RECQL5 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around RECQL5 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the RECQL5 gene promoter:
-
- AML1a
- CREB
- HTF
- POU3F2
- POU3F2 (N-Oct-5a)
- POU3F2 (N-Oct-5b)
Genomic Locations for RECQL5 Gene
Genomic Locations for RECQL5 Gene
- chr17:75,626,845-75,667,191
- (GRCh38/hg38)
- Size:
- 40,347 bases
- Orientation:
- Minus strand
- chr17:73,622,925-73,663,269
- (GRCh37/hg19)
- Size:
- 40,345 bases
- Orientation:
- Minus strand
Genomic View for RECQL5 Gene
Genes around RECQL5 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q25 by HGNC
- 17q25.1 by Entrez Gene
- 17q25.1 by Ensembl
RECQL5 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression for RECQL5 Gene
Selected DME Specific Peptides for RECQL5 Gene
- O94762:
-
- GKSLCYQ
- SQWGHDFR
- LVVDEAH
- YYQESGRAGRD
Post-translational modifications for RECQL5 Gene
Other Protein References for RECQL5 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Atlas Antibodies Anti-RECQL5 Antibody
-
Custom Antibody ServicesOriGene Antibodies for RECQL5
- Novus Biologicals Antibodies for RECQL5
-
Abcam antibodies for RECQL5
- Invitrogen Antibodies for RECQL5 (AFLGC-RECQL5)
-
Santa Cruz Biotechnology (SCBT) Antibodies for RECQL5
Protein Products
- Atlas Antibodies PrEST Antigen RECQL5
-
OriGene Purified Proteins for RECQL5
- Search Origene for MassSpec and Protein Over-expression Lysates for RECQL5
- Origene Custom Protein Services for RECQL5
- antibodies-online: Show 3 available RECQL5 Proteins ranked by validation data
- Compare Top RECQL5 Proteins
-
Quality Products:
-
Abcam proteins for RECQL5
Domains & Families for RECQL5 Gene
Gene Families for RECQL5 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Enzymes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for RECQL5 Gene
Suggested Antigen Peptide Sequences for RECQL5 Gene
- GenScript: Design optimal peptide antigens:
-
- RECQL5 protein (A5YM55_HUMAN)
- cDNA FLJ61700, highly similar to ATP-dependent DNA helicase Q5 (EC 3.6.1.-) (B7Z8Y7_HUMAN)
- RecQ protein-like 5, isoform CRA_b (Q6FIC9_HUMAN)
- RecQ protein-like 5, isoform CRA_c (Q6P4G0_HUMAN)
- RECQL5 protein (Q9BW80_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O94762- Family:
-
- Belongs to the helicase family. RecQ subfamily.
Function for RECQL5 Gene
Molecular function for RECQL5 Gene
- 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.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.12; Evidence=. ;.
- 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
Enzyme Numbers (IUBMB) for RECQL5 Gene
Phenotypes From GWAS Catalog for RECQL5 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000993 | RNA polymerase II complex binding | IDA | 23748380 |
| GO:0003676 | nucleic acid binding | IEA | -- |
| GO:0003678 | DNA helicase activity | NAS,TAS | 10710432 |
| GO:0004386 | helicase activity | IEA | -- |
| GO:0005524 | ATP binding | IEA | -- |
Phenotypes for RECQL5 Gene
- MGI mutant phenotypes for RECQL5:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for RECQL5:
Animal Models for RECQL5 Gene
- MGI Knock Outs for RECQL5:
-
- Recql5 Recql5<tm1.1Glu>
Animal Model Products
-
Taconic Biosciences Mouse Models for RECQL5
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RECQL5 - Select products 50% OFF >
- * RECQL5 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * RECQL5 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for RECQL5
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RECQL5
- genomics-online: gRNA clones - Search for available RECQL5 gRNA products
- Overview of 111 available RECQL5 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for RECQL5
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for RECQL5
- Browse OriGene Inhibitory RNA Products For RECQL5
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RECQL5
- genomics-online: shRNA clones - Search for available RECQL5 shRNA products
- Overview of 111 available RECQL5 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for RECQL5 - Select products 50% OFF >
- * RECQL5 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * RECQL5 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
-
- MG222846
- MR222846
- MR222846L3
- MR222846L3V
- MR222846L4
- MR222846L4V
- RC209460
- RC209460L3
- RC209460L3V
- RC209460L4
- RC209460L4V
- RC216761
- RC216761L3
- RC216761L3V
- RC216761L4
- RC216761L4V
- RC217937
- RC217937L3
- RC217937L3V
- RC217937L4
- RC217937L4V
- RG209460
- RG216761
- RG217937
- RR214401
- RR214401L1
- RR214401L1V
- RR214401L2
- RR214401L2V
- RR214401L3
- RR214401L3V
- RR214401L4
- RR214401L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Addgene plasmids for RECQL5
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RECQL5
Cell Line Products
-
Horizon Cell Lines for RECQL5
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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 4 |
| mitochondrion | 0 |
- Cytosol (3)
- Nucleus (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA,IBA | 22013166 |
| GO:0005654 | nucleoplasm | NAS | 10710432 |
| GO:0005694 | chromosome | IBA | 21873635 |
| GO:0005737 | cytoplasm | NAS,IBA | 10710432 |
| GO:0005829 | cytosol | IDA | -- |
Pathways & Interactions for RECQL5 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | DNA Damage | ||
Pathways by source for RECQL5 Gene
1 Cell Signaling Technology pathway for RECQL5 Gene
Interacting Proteins for RECQL5 Gene
Selected Interacting proteins:
O94762-RECQ5_HUMAN
ENSP00000317636
for RECQL5 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for RECQL5
| 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 | 21873635 |
| GO:0006259 | DNA metabolic process | NAS | 10710432 |
| GO:0006260 | DNA replication | IMP | 22013166 |
| GO:0006268 | DNA unwinding involved in DNA replication | IBA | 21873635 |
No data available for SIGNOR curated interactions for RECQL5 Gene
Drugs & Compounds for RECQL5 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor | 58-64-0 |
|
Drug Products
- Atlas Antibodies PrEST Antigen RECQL5
Transcripts for RECQL5 Gene
mRNA/cDNA for RECQL5 Gene
- (3) REFSEQ mRNAs :
- (22) Additional mRNA sequences :
- (165) Selected AceView cDNA sequences:
- (19) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000317905 3669 bps (ENST00000317905.9)
- ENST00000340830 1749 bps (ENST00000340830.9)
- ENST00000420326 3710 bps (ENST00000420326.6)
- ENST00000423245 3576 bps (ENST00000423245.6)
- ENST00000443199 3089 bps (ENST00000443199.6)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RECQL5 - Select products 50% OFF >
- * RECQL5 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * RECQL5 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for RECQL5
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RECQL5
- genomics-online: gRNA clones - Search for available RECQL5 gRNA products
- Overview of 111 available RECQL5 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for RECQL5
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for RECQL5
- Browse OriGene Inhibitory RNA Products For RECQL5
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RECQL5
- genomics-online: shRNA clones - Search for available RECQL5 shRNA products
- Overview of 111 available RECQL5 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for RECQL5 - Select products 50% OFF >
- * RECQL5 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * RECQL5 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
-
- MG222846
- MR222846
- MR222846L3
- MR222846L3V
- MR222846L4
- MR222846L4V
- RC209460
- RC209460L3
- RC209460L3V
- RC209460L4
- RC209460L4V
- RC216761
- RC216761L3
- RC216761L3V
- RC216761L4
- RC216761L4V
- RC217937
- RC217937L3
- RC217937L3V
- RC217937L4
- RC217937L4V
- RG209460
- RG216761
- RG217937
- RR214401
- RR214401L1
- RR214401L1V
- RR214401L2
- RR214401L2V
- RR214401L3
- RR214401L3V
- RR214401L4
- RR214401L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Addgene plasmids for RECQL5
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RECQL5
| 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: |
Expression for RECQL5 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
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, MaxQB, and MOPED for RECQL5 Gene
NURSA nuclear receptor signaling pathways regulating expression of RECQL5 Gene:
RECQL5SOURCE GeneReport for Unigene cluster for RECQL5 Gene:
Hs.632229mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for RECQL5
-
OriGene qPCR primer pairs and template standards for RECQL5
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | RECQL5 33 32 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | RECQL5 33 32 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | RECQL5 33 32 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Recql5 17 33 32 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Recql5 32 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | RECQL5 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | RECQL5 33 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | RECQL5 33 32 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | RECQL5 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | recql5 32 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | recql5 32 |
|
||
| recql5l 33 |
|
OneToOne | |||
| Dr.28571 32 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | RecQ5 33 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | rcq-5 33 32 |
|
OneToOne | |
| wrn-1 34 |
|
|
|||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SGS1 33 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
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)
- Aminode:
- Evolutionary constrained regions (ECRs) for RECQL5: view image
Paralogs for RECQL5 Gene
(2) SIMAP similar genes for RECQL5 Gene using alignment to 11 proteins:
- RECQ5_HUMAN
- A5YM55_HUMAN
- J3KRM6_HUMAN
- J3KS37_HUMAN
- J3KSL7_HUMAN
- J3KSV9_HUMAN
- J3KTQ2_HUMAN
- J3QLU0_HUMAN
- Q6FIC9_HUMAN
- Q6P4G0_HUMAN
- Q9BW80_HUMAN
Variants for RECQL5 Gene
| SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs56158987 | benign, not specified | 75,630,843(-) | /T/TGT/TGTGT/TGTT | genic_downstream_transcript_variant, intron_variant | |
| rs1000031005 | -- | 75,658,176(-) | A/G/T | genic_upstream_transcript_variant, intron_variant | |
| rs1000045499 | -- | 75,632,266(-) | G/A | genic_downstream_transcript_variant, intron_variant | |
| rs1000059605 | -- | 75,635,014(-) | C/T | genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant | |
| rs1000127169 | -- | 75,627,935(-) | C/T | downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant |
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)
Additional Variant Information for RECQL5 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RECQL5 Gene
Disorders for RECQL5 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| bloom syndrome |
|
|
| rothmund-thomson syndrome |
|
|
| werner syndrome |
|
|
| baller-gerold syndrome |
|
|
| rapadilino syndrome |
|
|
Search RECQL5 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for RECQL5
No data available for UniProtKB/Swiss-Prot and Genatlas for RECQL5 Gene
Publications for RECQL5 Gene
- 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 56
- 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 23 56
- 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 23 56
- Drosophila and human RecQ5 exist in different isoforms generated by alternative splicing. (PMID: 10471747) Sekelsky JJ … Hawley RS (Nucleic acids research 1999) 3 4 23 56
- 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 56
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