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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 to affected sites where it may attract specialized DNA polymerases and other DNA repair effectors. Alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jan 2009]
RAD1 (RAD1 Checkpoint DNA Exonuclease) is a Protein Coding gene. Diseases associated with RAD1 include Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked and Restless Legs Syndrome. Among its related pathways are Homologous DNA Pairing and Strand Exchange and E2F mediated regulation of DNA replication. Gene Ontology (GO) annotations related to this gene include damaged DNA binding and exodeoxyribonuclease III activity.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH05J034914 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE CraniofacialAtlas | 600.7 | +3.3 | 3299 | 4.8 | SP1 HNRNPL CREB1 GATAD2A PRDM10 REST ZNF629 TFE3 ZNF512 LEF1 | BRIX1 RAD1 lnc-AGXT2-1 DNAJC21 TTC23L RF00017-4570 | |
GH05J034918 | Promoter | 0.6 | Ensembl | 600.7 | +0.7 | 688 | 0.2 | OSR2 PRDM4 ZNF362 ZNF121 | RAD1 DNAJC21 BRIX1 RF00017-4570 | |
GH05J035022 | Enhancer | 0.6 | ENCODE | 4.7 | -104.6 | -104578 | 1.3 | SP1 SCRT1 ZC3H11A HNF4A RXRA MAX ZNF781 ZNF518A HNF4G EGR1 | AGXT2 RAD1 piR-61580-505 RF01061-135 DNAJC21 | |
GH05J034922 | Enhancer | 1.1 | Ensembl ENCODE | 0.4 | -5.0 | -5012 | 2.8 | CREB1 ZNF629 LEF1 ZNF692 BACH1 JUND DDX20 PRDM1 MTA2 MTA1 | DNAJC21 BRIX1 ENSG00000215158 RF00017-4571 RAD1 RF00017-4570 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003684 | damaged DNA binding | TAS | 9872989 |
GO:0004518 | nuclease activity | IEA | -- |
GO:0004527 | exonuclease activity | IEA | -- |
GO:0005515 | protein binding | IPI | 10359610 |
GO:0008408 | 3'-5' exonuclease activity | IDA | 9660799 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IC | 9660799 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005694 | chromosome | IDA | 9716408 |
GO:0030896 | checkpoint clamp complex | IBA | 21873635 |
GO:0042025 | host cell nucleus | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | DNA Double-Strand Break Repair |
.53
|
|
2 | Homologous DNA Pairing and Strand Exchange |
.01
|
|
3 | Regulation of TP53 Activity | ||
4 | Chks in Checkpoint Regulation |
Chks in Checkpoint Regulation
.58
|
DNA Repair Mechanisms
.31
|
5 | Cell Cycle Checkpoints |
.84
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000077 | DNA damage checkpoint | IEA,IMP | 21659603 |
GO:0006260 | DNA replication | TAS | -- |
GO:0006281 | DNA repair | TAS,IBA | 21873635 |
GO:0006974 | cellular response to DNA damage stimulus | TAS | 9872989 |
GO:0021762 | substantia nigra development | HEP | 22926577 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | · | 8c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||
SP2: | |||||||||||||||||||||||
SP3: | - | - | - | - | - | ||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RAD1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RAD1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RAD1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | RAD1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | RAD1 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Rad1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rad1 30 |
|
||
Chicken (Gallus gallus) |
Aves | RAD1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RAD1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rad1 30 |
|
||
Str.15014 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Rad1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | rad1 30 31 |
|
OneToOne | |
zgc77779 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.2152 30 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002255 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Rad1 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | mrt-2 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.9754 31 |
|
OneToOne | |
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | rad1 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU00942 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4289 30 |
|
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv5629n100 | CNV | gain | 25217958 |
esv3604679 | CNV | gain | 21293372 |
esv3604690 | CNV | gain | 21293372 |
nsv597809 | CNV | gain | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
alpha-thalassemia/mental retardation syndrome, x-linked |
|
|
restless legs syndrome |
|
|