RAD50 (gene)
Encyclopedia
DNA repair protein RAD50, also known as RAD50, is a protein
that in humans is encoded by the RAD50 gene
.
Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11
and NBS1
. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint
activation, telomere
maintenance, and meiotic recombination
. Gene knockout
studies of the mouse homolog suggest this gene is essential for cell growth and viability. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported.
with RINT1
, MRE11A
, TERF2IP
, Nibrin
, TERF2
and BRCA1
.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the RAD50 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Function
The protein encoded by this gene is highly similar to Saccharomyces cerevisiaeSaccharomyces cerevisiae
Saccharomyces cerevisiae is a species of yeast. It is perhaps the most useful yeast, having been instrumental to baking and brewing since ancient times. It is believed that it was originally isolated from the skin of grapes...
Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11
MRE11A
Double-strand break repair protein MRE11A is a protein that in humans is encoded by the MRE11A gene.-Interactions:MRE11A has been shown to interact with Ku70, Ataxia telangiectasia mutated, MDC1, Rad50, Nibrin, TERF2 and BRCA1.-Further reading:...
and NBS1
Nibrin
Nibrin, also known as NBN, is a protein which in humans is encoded by the NBN gene.- Function :Nibrin is a protein associated with the repair of double strand breaks which pose serious damage to a genome. It is a 754 amino acid protein identified as a member of the NBS1/hMre11/RAD50 double strand...
. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint
Cell cycle checkpoint
Cell cycle checkpoints are control mechanisms that ensure the fidelity of cell division in eukaryotic cells. These checkpoints verify whether the processes at each phase of the cell cycle have been accurately completed before progression into the next phase...
activation, telomere
Telomere
A telomere is a region of repetitive DNA sequences at the end of a chromosome, which protects the end of the chromosome from deterioration or from fusion with neighboring chromosomes. Its name is derived from the Greek nouns telos "end" and merοs "part"...
maintenance, and meiotic recombination
Genetic recombination
Genetic recombination is a process by which a molecule of nucleic acid is broken and then joined to a different one. Recombination can occur between similar molecules of DNA, as in homologous recombination, or dissimilar molecules, as in non-homologous end joining. Recombination is a common method...
. Gene knockout
Gene knockout
A gene knockout is a genetic technique in which one of an organism's genes is made inoperative . Also known as knockout organisms or simply knockouts, they are used in learning about a gene that has been sequenced, but which has an unknown or incompletely known function...
studies of the mouse homolog suggest this gene is essential for cell growth and viability. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported.
Interactions
Rad50 has been shown to interactProtein-protein interaction
Protein–protein interactions occur when two or more proteins bind together, often to carry out their biological function. Many of the most important molecular processes in the cell such as DNA replication are carried out by large molecular machines that are built from a large number of protein...
with RINT1
RINT1
RAD50-interacting protein 1 is a protein that in humans is encoded by the RINT1 gene.-Interactions:RINT1 has been shown to interact with Rad50 and ZW10.-Further reading:...
, MRE11A
MRE11A
Double-strand break repair protein MRE11A is a protein that in humans is encoded by the MRE11A gene.-Interactions:MRE11A has been shown to interact with Ku70, Ataxia telangiectasia mutated, MDC1, Rad50, Nibrin, TERF2 and BRCA1.-Further reading:...
, TERF2IP
TERF2IP
Telomeric repeat-binding factor 2-interacting protein 1 is a protein that in humans is encoded by the TERF2IP gene.-Interactions:TERF2IP has been shown to interact with Ku80, Rad50 and TERF2.-Further reading:...
, Nibrin
Nibrin
Nibrin, also known as NBN, is a protein which in humans is encoded by the NBN gene.- Function :Nibrin is a protein associated with the repair of double strand breaks which pose serious damage to a genome. It is a 754 amino acid protein identified as a member of the NBS1/hMre11/RAD50 double strand...
, TERF2
TERF2
Telomeric repeat-binding factor 2 is a protein that is also known as TRF2 and TRBF2. It is in humans encoded by the TERF2 gene.-Interactions:...
and BRCA1
BRCA1
BRCA1 is a human caretaker gene that produces a protein called breast cancer type 1 susceptibility protein, responsible for repairing DNA. The first evidence for the existence of the gene was provided by the King laboratory at UC Berkeley in 1990...
.