RAD50 Gene Summary [Human]

The protein encoded by this gene is highly similar to Saccharomyces cerevisiae 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. Knockout studies of the mouse homolog suggest this gene is essential for cell growth and viability. Mutations in this gene are the cause of Nijmegen breakage syndrome-like disorder.[provided by RefSeq, Apr 2010]

Details

Type
Protein Coding
Official Symbol
RAD50
Official Name
RAD50 double strand break repair protein [Source:HGNC Symbol;Acc:HGNC:9816]
Ensembl ID
ENSG00000113522
Bio databases IDs NCBI: 10111 Ensembl: ENSG00000113522
Aliases RAD50 double strand break repair protein
Synonyms hRad50, Mrell, NBSLD, RAD502, RAD50 double strand break repair protein, Rad50l
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human RAD50 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • 3'-5' exonuclease
  • walker type B motif
  • Synaptonemal complex protein 1 (SCP-1)
  • protein binding activity, bridging
  • helix-rich Mycoplasma protein
  • leucine zipper domain
  • enzyme
  • identical protein binding
  • ATPase
  • DNA helicase
  • ERM binding domain
  • chromosome segregation protein SMC, common bacterial type
  • Mitotic checkpoint protein
  • Crescentin protein
  • SbcC/RAD50-like, Walker B motif
  • chromosome segregation protein SMC, primarily archaeal type
  • exonuclease SbcC
  • rad50
  • Myosin tail
  • protein binding
  • Rad50 zinc hook motif
  • single-stranded DNA specific endodeoxyribonuclease
  • DNA binding
  • AAA domain
  • protein kinase activator
  • RecF/RecN/SMC N terminal domain
  • binding protein
  • double-stranded DNA binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • metastasis
  • cancer
  • neoplasia
  • breast cancer
  • breast carcinoma
  • epithelial cancer
  • epithelial neoplasia
  • liver neoplasia
  • tumorigenesis
  • hereditary cancer-predisposing syndrome
regulated by
regulates
role in cell
  • apoptosis
  • cell death
  • activation in
  • survival
  • phosphorylation in
  • proliferation
  • formation
  • damage in
  • number
  • organization

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • interchromatin granule cluster fractions
  • nuclear fraction
  • anaphase bridge
  • intracellular space
  • perinuclear region
  • midbody remnant
  • chromosome
  • nucleoplasm
  • nucleoli
  • pronucleus
  • DNA replication foci
  • PML nuclear bodies
  • telomeres
  • chromatin

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human RAD50 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • DNA repair
  • DNA double-strand break processing
  • reciprocal meiotic recombination
  • double-strand break repair via homologous recombination
  • DNA recombination
  • regulation of mitotic recombination
  • telomere maintenance via telomerase
  • telomere maintenance
  • telomere maintenance via recombination
  • response to DNA damage stimulus
  • chromosome organization involved in meiosis
  • double-strand break repair
  • positive regulation of protein autophosphorylation
  • DNA duplex unwinding
  • telomeric 3' overhang formation
  • positive regulation of kinase activity
  • reciprocal DNA recombination
  • positive regulation of telomere maintenance

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • chromosome, telomeric region
  • site of double-strand break
  • membrane
  • BRCA1-C complex
  • Mre11 complex
  • condensed nuclear chromosome
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • ATPase activity
  • identical protein binding
  • protein serine/threonine kinase activator activity
  • double-stranded telomeric DNA binding
  • single-stranded telomeric DNA binding
  • single-stranded DNA specific endodeoxyribonuclease activity
  • 3'-5' exonuclease activity
  • ATP binding
  • DNA binding
  • DNA helicase activity
  • protein binding
  • G-quadruplex DNA binding
  • metal ion binding
  • protein binding, bridging

Gene-Specific Assays for Results You Can Trust

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