• Gene id: 5810

Gene Summary

• Gene Symbol: RAD1   Gene   UCSC   Ensembl
• Aliases: HRAD1, REC1
• Gene name: RAD1 checkpoint DNA exonuclease
• Alternate names: cell cycle checkpoint protein RAD1, DNA repair exonuclease REC1, DNA repair exonuclease rad1 homolog, RAD1 checkpoint clamp component, RAD1 homolog, cell cycle checkpoint protein Hrad1, checkpoint control protein HRAD1, exonuclease homolog RAD1, rad1-like DNA dam,
• Gene location: 5p13.2 (34915503: 34905259)     Exons: 10     NC_000005.10
• Gene summary(Entrez): 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
• OMIM: 603153

Protein Summary

• Protein general information: O60671  
  • Name: Cell cycle checkpoint protein RAD1 (hRAD1) (EC 3.1.11.2) (DNA repair exonuclease rad1 homolog) (Rad1 like DNA damage checkpoint protein)
  • Length: 282  
  • Mass: 31827
  • Tissue specificity: Expressed in testis, uterus, bladder, spleen, ovaries, lung, brain and muscle (at protein level). {ECO
• Sequence:

  MPLLTQQIQDEDDQYSLVASLDNVRNLSTILKAIHFREHATCFATKNGIKVTVENAKCVQANAFIQAGIFQEFKV
  QEESVTFRINLTVLLDCLSIFGSSPMPGTLTALRMCYQGYGYPLMLFLEEGGVVTVCKINTQEPEETLDFDFCST
  NVINKIILQSEGLREAFSELDMTSEVLQITMSPDKPYFRLSTFGNAGSSHLDYPKDSDLMEAFHCNQTQVNRYKI
  SLLKPSTKALVLSCKVSIRTDNRGFLSLQYMIRNEDGQICFVEYYCCPDEEVPESES

• Structural information:
  • Interpro: IPR003011  IPR003021  
  • PDB: 3A1J 3G65 3GGR 6J8Y
  • PDBsum: 3A1J 3G65 3GGR 6J8Y
  • DIP: 46061
  • STRING: ENSP00000371469
• Other Databases: GeneCards:  RAD1  Malacards:  RAD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006281	DNA repair	IBA	biological process
GO:0000077	DNA damage checkpoint	IBA	biological process
GO:0030896	checkpoint clamp complex	IBA	cellular component
GO:0008408	3'-5' exonuclease activity	IBA	molecular function
GO:0071479	cellular response to ionizing radiation	IDA	biological process
GO:0000077	DNA damage checkpoint	IMP	biological process
GO:0000077	DNA damage checkpoint	IEA	biological process
GO:0042025	host cell nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0004527	exonuclease activity	IEA	molecular function
GO:0003684	damaged DNA binding	TAS	molecular function
GO:0006974	cellular response to DNA damage stimulus	TAS	biological process
GO:0006281	DNA repair	TAS	biological process
GO:0008853	exodeoxyribonuclease III activity	IEA	molecular function
GO:1901796	regulation of signal transduction by p53 class mediator	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006260	DNA replication	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0008408	3'-5' exonuclease activity	IDA	molecular function
GO:0021762	substantia nigra development	HEP	biological process
GO:0005694	chromosome	IDA	cellular component
GO:0005634	nucleus	IC	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0051598	meiotic recombination checkpoint	IGI	biological process

KEGG pathways

Pathway id	Pathway name
hsa04218	Cellular senescence

Diseases

Associated diseases	References
Male factor infertility	MIK: 29961538
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq