RAD1
Description
The RAD1 (RAD1 checkpoint DNA exonuclease) is a protein-coding gene located on chromosome 5.
RAD1 can refer to:
RAD1 is a component of the 9-1-1 cell-cycle checkpoint response complex, which plays a vital role in DNA repair. The 9-1-1 complex is recruited to damaged DNA by the RAD17-replication factor C (RFC) clamp loader complex. Once recruited, it acts as a sliding clamp platform on DNA for several proteins involved in long-patch base excision repair (LP-BER). This complex stimulates DNA polymerase beta (POLB) activity by increasing its affinity for the 3'-OH end of the primer-template and stabilizing POLB at LP-BER sites. It also enhances endonuclease FEN1 cleavage activity on substrates with double, nick, or gap flaps of distinct sequences and lengths and DNA ligase I (LIG1) activity on long-patch base excision repair substrates. Furthermore, the 9-1-1 complex is required for the recruitment of RHNO1 to sites of double-stranded breaks (DSB) occurring during the S phase.
RAD1 is also known as HRAD1, REC1.
Associated Diseases
- endometrial cancer
- hemolytic anemia due to glutathione reductase deficiency
- dehydrated hereditary stomatocytosis
- Rh deficiency syndrome
- hemolytic anemia due to erythrocyte adenosine deaminase overproduction
- primary familial polycythemia due to EPO receptor mutation
- hemochromatosis type 5
- microcytic anemia with liver iron overload
- gluthathione peroxidase deficiency
- hereditary hyperferritinemia with congenital cataracts
- sideroblastic anemia 3
- hemolytic anemia due to diphosphoglycerate mutase deficiency
- diabetes mellitus, permanent neonatal 4
- elliptocytosis 2
- megaloblastic anemia, folate-responsive
- diabetes mellitus, transient neonatal, 3
