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The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with the ssDNA-binding protein RPA and RAD52, and it is thought to play roles in homologous pairing and strand transfer of DNA. This protein is also found to interact with BRCA1 and BRCA2, which may be important for the cellular response to DNA damage. BRCA2 is shown to regulate both the intracellular localization and DNA-binding ability of this protein. Loss of these controls following BRCA2 inactivation may be a key event leading to genomic instability and tumorigenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
RAD51 (RAD51 Recombinase) is a Protein Coding gene. Diseases associated with RAD51 include Fanconi Anemia, Complementation Group R and Mirror Movements 2. Among its related pathways are ATM Pathway and Homologous DNA Pairing and Strand Exchange. Gene Ontology (GO) annotations related to this gene include identical protein binding and protein C-terminus binding. An important paralog of this gene is DMC1.
The syntheses of RNA (transcription), DNA and proteins (translation) are fundamental processes necessary for all life. Transcription begins by uncoiling a section of DNA that will be used as the template and is initiated by RNA polymerase binding to a promoter sequence.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000150 | recombinase activity | IBA | 21873635 |
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0003682 | chromatin binding | IDA | 23401855 |
GO:0003690 | double-stranded DNA binding | IBA,IMP | 26681308 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000228 | nuclear chromosome | IDA | 23754376 |
GO:0000784 | nuclear chromosome, telomeric region | IDA | 21076401 |
GO:0000785 | chromatin | IDA | 25585578 |
GO:0000790 | nuclear chromatin | IDA | 26323318 |
GO:0000793 | condensed chromosome | ISS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Resolution of D-loop Structures through Holliday Junction Intermediates | ||
2 | DNA Double-Strand Break Repair |
.53
|
|
3 | Homologous DNA Pairing and Strand Exchange | ||
4 | ATM Pathway |
ATM Pathway
.45
|
|
5 | BRCA1 Pathway |
Fanconi's Anaemia Pathway
.01
|
BRCA1 Pathway
-
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000722 | telomere maintenance via recombination | ISS | 21076401 |
GO:0000724 | double-strand break repair via homologous recombination | IDA,TAS | 12427746 |
GO:0000730 | DNA recombinase assembly | IMP | 26681308 |
GO:0001932 | regulation of protein phosphorylation | IEA | -- |
GO:0006259 | DNA metabolic process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Rucaparib | Approved, Investigational | Pharma | PARP inhibitor, PARP Inhibitors, Other | 57 | ||
Adenosine 5'-[gamma-thio]triphosphate | Experimental | Pharma | Target, Target, Target | 0 | ||
dATP | Experimental | Pharma | Agonist, Full agonist, Target, Target | 0 | ||
Phosphoaminophosphonic Acid-Adenylate Ester | Experimental | Pharma | Target | 0 | ||
Tetrafluoroaluminate Ion | Experimental | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12a | · | 12b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RAD51 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RAD51 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RAD51 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rad51 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Rad51 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | RAD51 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | RAD51 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | RAD51A 31 |
|
OneToOne | |
RAD51 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | RAD51 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rad51 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | rad51-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | rad51 30 31 |
|
OneToOne | |
wufb38e12 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.3942 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Rad51 32 |
|
|
|
spn-A 30 31 |
|
OneToOne | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP013412 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | rad-51 30 31 32 |
|
OneToOne | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E20241g 30 |
|
||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ACR226W 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RAD51 30 31 33 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | RAD51 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os12g0497300 30 |
|
||
Os.19630 30 |
|
||||
Wheat (Triticum aestivum) |
Liliopsida | Ta.7197 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.631 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | rhp51 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3685 31 |
|
OneToOne | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU02741 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.7666 30 |
|
SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
718568 | Likely Benign: not provided | 40,729,580(+) | C/G | SYNONYMOUS_VARIANT | |
722625 | Likely Benign: not provided | 40,731,103(+) | C/T | NONSENSE,SYNONYMOUS_VARIANT | |
727973 | Likely Benign: not provided | 40,731,169(+) | C/T | SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT | |
730047 | Likely Benign: not provided | 40,701,140(+) | C/T | MISSENSE_VARIANT | |
735442 | Likely Benign: not provided | 40,729,559(+) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2478123 | CNV | deletion | 19546169 |
esv2760026 | CNV | loss | 17122850 |
esv3636229 | CNV | loss | 21293372 |
esv3636230 | CNV | loss | 21293372 |
nsv527234 | CNV | loss | 19592680 |
nsv529030 | CNV | loss | 19592680 |
nsv832984 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
fanconi anemia, complementation group r |
|
|
mirror movements 2 |
|
|
breast cancer |
|
|
mirror movements 1 |
|
|
fanconi anemia, complementation group a |
|