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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]
RECQL5 (RecQ Like Helicase 5) is a Protein Coding gene. Diseases associated with RECQL5 include Rothmund-Thomson Syndrome, Type 2 and Bloom 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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0000993 | RNA polymerase II complex binding | IDA | 23748380 |
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003678 | DNA helicase activity | TAS,NAS | 10710432 |
GO:0004386 | helicase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA,IDA | 22013166 |
GO:0005654 | nucleoplasm | NAS | 10710432 |
GO:0005694 | chromosome | IBA | 21873635 |
GO:0005737 | cytoplasm | IBA,NAS | 10710432 |
GO:0005829 | cytosol | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | DNA Damage |
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 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
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: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RECQL5 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RECQL5 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RECQL5 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Recql5 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Recql5 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | RECQL5 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | RECQL5 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | RECQL5 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RECQL5 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | recql5 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | recql5 30 |
|
||
recql5l 31 |
|
OneToOne | |||
Dr.28571 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | RecQ5 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | rcq-5 30 31 |
|
OneToOne | |
wrn-1 32 |
|
|
|||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SGS1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708597 | Benign: not provided | 75,629,130(-) | C/T | MISSENSE_VARIANT | |
708598 | Benign: not provided | 75,629,151(-) | G/A | MISSENSE_VARIANT | |
708609 | Benign: not provided | 75,662,971(-) | T/C | SYNONYMOUS_VARIANT | |
709680 | Likely Benign: not provided | 75,630,657(-) | C/T | SYNONYMOUS_VARIANT | |
714863 | Benign: not provided | 75,628,979(-) | G/A | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
rothmund-thomson syndrome, type 2 |
|
|
bloom syndrome |
|
|
werner syndrome |
|
|
rapadilino syndrome |
|
|
baller-gerold syndrome |
|
|