• Gene id: 9156

Gene Summary

• Gene Symbol: EXO1   Gene   UCSC   Ensembl
• Aliases: HEX1, hExoI
• Gene name: exonuclease 1
• Alternate names: exonuclease 1, rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1,
• Gene location: 1q43 (127858154: 127843552)     Exons: 4     NC_000002.12
• Gene summary(Entrez): This gene encodes a protein with 5' to 3' exonuclease activity as well as an RNase H activity. It is similar to the Saccharomyces cerevisiae protein Exo1 which interacts with Msh2 and which is involved in mismatch repair and recombination. Alternative spl
• OMIM: 606063

Protein Summary

• Protein general information: Q9UQ84  
  • Name: Exonuclease 1 (hExo1) (EC 3.1. . ) (Exonuclease I) (hExoI)
  • Length: 846  
  • Mass: 94103
  • Tissue specificity: Highly expressed in bone marrow, testis and thymus. Expressed at lower levels in colon, lymph nodes, ovary, placenta, prostate, small intestine, spleen and stomach. {ECO
• Sequence:

  MGIQGLLQFIKEASEPIHVRKYKGQVVAVDTYCWLHKGAIACAEKLAKGEPTDRYVGFCMKFVNMLLSHGIKPIL
  VFDGCTLPSKKEVERSRRERRQANLLKGKQLLREGKVSEARECFTRSINITHAMAHKVIKAARSQGVDCLVAPYE
  ADAQLAYLNKAGIVQAIITEDSDLLAFGCKKVILKMDQFGNGLEIDQARLGMCRQLGDVFTEEKFRYMCILSGCD
  YLSSLRGIGLAKACKVLRLANNPDIVKVIKKIGHYLKMNITVPEDYINGFIRANNTFLYQLVFDPIKRKLIPLNA
  YEDDVDPETLSYAGQYVDDSIALQIALGNKDINTFEQIDDYNPDTAMPAHSRSHSWDDKTCQKSANVSSIWHRNY
  SPRPESGTVSDAPQLKENPSTVGVERVISTKGLNLPRKSSIVKRPRSAELSEDDLLSQYSLSFTKKTKKNSSEGN
  KSLSFSEVFVPDLVNGPTNKKSVSTPPRTRNKFATFLQRKNEESGAVVVPGTRSRFFCSSDSTDCVSNKVSIQPL
  DETAVTDKENNLHESEYGDQEGKRLVDTDVARNSSDDIPNNHIPGDHIPDKATVFTDEESYSFESSKFTRTISPP
  TLGTLRSCFSWSGGLGDFSRTPSPSPSTALQQFRRKSDSPTSLPENNMSDVSQLKSEESSDDESHPLREEACSSQ
  SQESGEFSLQSSNASKLSQCSSKDSDSEESDCNIKLLDSQSDQTSKLRLSHFSKKDTPLRNKVPGLYKSSSADSL
  STTKIKPLGPARASGLSKKPASIQKRKHHNAENKPGLQIKLNELWKNFGFKKDSEKLPPCKKPLSPVRDNIQLTP
  EAEEDIFNKPECGRVQRAIFQ

• Structural information:
  • Interpro: IPR036279  IPR032641  IPR037315  IPR008918  IPR029060   IPR006086  IPR006084  IPR019974  IPR006085  
  • Prosite: PS00841 PS00842
  • CDD: cd09908
  • PDB: 3QE9 3QEA 3QEB 5UZV 5V04 5V05 5V06 5V07 5V08 5V09 5V0A 5V0B 5V0C 5V0D 5V0E
  • PDBsum: 3QE9 3QEA 3QEB 5UZV 5V04 5V05 5V06 5V07 5V08 5V09 5V0A 5V0B 5V0C 5V0D 5V0E
  • DIP: 36701
  • STRING: ENSP00000355506
• Other Databases: GeneCards:  EXO1  Malacards:  EXO1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0006310	DNA recombination	IBA	biological process
GO:0017108	5'-flap endonuclease activity	IBA	molecular function
GO:0035312	5'-3' exodeoxyribonuclease activity	IBA	molecular function
GO:0006298	mismatch repair	IBA	biological process
GO:0048256	flap endonuclease activity	IBA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0016788	hydrolase activity, acting on ester bonds	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0035312	5'-3' exodeoxyribonuclease activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0004519	endonuclease activity	IEA	molecular function
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0004518	nuclease activity	IEA	molecular function
GO:0004527	exonuclease activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0003677	DNA binding	TAS	molecular function
GO:0004523	RNA-DNA hybrid ribonuclease activity	TAS	molecular function
GO:0004527	exonuclease activity	TAS	molecular function
GO:0008409	5'-3' exonuclease activity	TAS	molecular function
GO:0006310	DNA recombination	TAS	biological process
GO:0006281	DNA repair	TAS	biological process
GO:0006298	mismatch repair	TAS	biological process
GO:0008409	5'-3' exonuclease activity	TAS	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: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: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:0006260	DNA replication	TAS	biological process
GO:0006298	mismatch repair	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045190	isotype switching	IEA	biological process
GO:0002455	humoral immune response mediated by circulating immunoglobulin	IEA	biological process
GO:0016446	somatic hypermutation of immunoglobulin genes	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0090656	t-circle formation	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0090502	RNA phosphodiester bond hydrolysis, endonucleolytic	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: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: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: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:0048256	flap endonuclease activity	IDA	molecular function
GO:0048256	flap endonuclease activity	IDA	molecular function
GO:0006298	mismatch repair	IDA	biological process
GO:0051908	double-stranded DNA 5'-3' exodeoxyribonuclease activity	IDA	molecular function
GO:0045145	single-stranded DNA 5'-3' exodeoxyribonuclease activity	IDA	molecular function
GO:0035312	5'-3' exodeoxyribonuclease activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0051908	double-stranded DNA 5'-3' exodeoxyribonuclease activity	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006298	mismatch repair	IPI	biological process
GO:0006298	mismatch repair	IMP	biological process
GO:0006298	mismatch repair	ISS	biological process
GO:0008409	5'-3' exonuclease activity	ISS	molecular function
GO:0006310	DNA recombination	IGI	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03430	Mismatch repair

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq