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Gene Gene information from NCBI Gene database.
Entrez ID 5810
Gene name RAD1 checkpoint DNA exonuclease
Gene symbol RAD1
Synonyms (NCBI Gene)
HRAD1REC1
Chromosome 5
Chromosome location 5p13.2
Summary This gene encodes a component of a heterotrimeric cell cycle checkpoint complex, known as the 9-1-1 complex, that is activated to stop cell cycle progression in response to DNA damage or incomplete DNA replication. The 9-1-1 complex is recruited by RAD17
miRNA miRNA information provided by mirtarbase database.
673 Show/Hide all (673)
miRTarBase ID miRNA Experiments Reference
MIRT020681 hsa-miR-155-5p Proteomics 18668040
MIRT024409 hsa-miR-215-5p Microarray 19074876
MIRT024409 hsa-miR-215-5p Microarray 19074876
MIRT024409 hsa-miR-215-5p Microarray 19074876
MIRT026379 hsa-miR-192-5p Microarray 19074876
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22 Show/Hide all (22)
GO ID Ontology Definition Evidence Reference
GO:0000077 Process DNA damage checkpoint signaling IBA
GO:0000077 Process DNA damage checkpoint signaling IEA
GO:0000077 Process DNA damage checkpoint signaling IMP 21659603
GO:0000077 Process DNA damage checkpoint signaling NAS 19464297
GO:0003684 Function Damaged DNA binding TAS 9872989
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603153 9806 ENSG00000113456
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60671
Protein name Cell cycle checkpoint protein RAD1 (hRAD1) (Rad1-like DNA damage checkpoint protein)
Protein function Component of the 9-1-1 cell-cycle checkpoint response complex that plays a major role in DNA repair (PubMed:10846170, PubMed:10884395). The 9-1-1 complex is recruited to DNA lesion upon damage by the RAD17-replication factor C (RFC) clamp loader
PDB 3A1J , 3G65 , 3GGR , 6J8Y , 7Z6H , 8GNN , 8WU8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02144 Rad1 16 → 257 Repair protein Rad1/Rec1/Rad17 Family
Tissue specificity TISSUE SPECIFICITY: Expressed in testis, uterus, bladder, spleen, ovaries, lung, brain and muscle (at protein level). {ECO:0000269|PubMed:9716408}.
Sequence
Sequence length 282
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Cellular senescence Activation of ATR in response to replication stress
  HDR through Single Strand Annealing (SSA)
  Processing of DNA double-strand break ends
  Presynaptic phase of homologous DNA pairing and strand exchange
  Regulation of TP53 Activity through Phosphorylation
  G2/M DNA damage checkpoint
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (12)
Phenotype Name Clinical Significance Source Reference Evidence Score
Acute myeloid leukemia Benign; Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign; Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations