• Gene id: 348654

Gene Summary

• Gene Symbol: GEN1   Gene   UCSC   Ensembl
• Aliases: Gen
• Gene name: GEN1 Holliday junction 5' flap endonuclease
• Alternate names: flap endonuclease GEN homolog 1, Gen endonuclease homolog 1, Holliday junction resolvase,
• Gene location: 2p24.2 (17753686: 17788945)     Exons: 16     NC_000002.12
• Gene summary(Entrez): This gene encodes a member of the Rad2/xeroderma pigmentosum group G nuclease family, whose members are characterized by N-terminal and internal xeroderma pigmentosum group G nuclease domains followed by helix-hairpin-helix domains and disordered C-termin
• OMIM: 612449

Protein Summary

• Protein general information: Q17RS7  
  • Name: Flap endonuclease GEN homolog 1 (EC 3.1. . )
  • Length: 908  
  • Mass: 102884
• Sequence:

  MGVNDLWQILEPVKQHIPLRNLGGKTIAVDLSLWVCEAQTVKKMMGSVMKPHLRNLFFRISYLTQMDVKLVFVME
  GEPPKLKADVISKRNQSRYGSSGKSWSQKTGRSHFKSVLRECLHMLECLGIPWVQAAGEAEAMCAYLNAGGHVDG
  CLTNDGDTFLYGAQTVYRNFTMNTKDPHVDCYTMSSIKSKLGLDRDALVGLAILLGCDYLPKGVPGVGKEQALKL
  IQILKGQSLLQRFNRWNETSCNSSPQLLVTKKLAHCSVCSHPGSPKDHERNGCRLCKSDKYCEPHDYEYCCPCEW
  HRTEHDRQLSEVENNIKKKACCCEGFPFHEVIQEFLLNKDKLVKVIRYQRPDLLLFQRFTLEKMEWPNHYACEKL
  LVLLTHYDMIERKLGSRNSNQLQPIRIVKTRIRNGVHCFEIEWEKPEHYAMEDKQHGEFALLTIEEESLFEAAYP
  EIVAVYQKQKLEIKGKKQKRIKPKENNLPEPDEVMSFQSHMTLKPTCEIFHKQNSKLNSGISPDPTLPQESISAS
  LNSLLLPKNTPCLNAQEQFMSSLRPLAIQQIKAVSKSLISESSQPNTSSHNISVIADLHLSTIDWEGTSFSNSPA
  IQRNTFSHDLKSEVESELSAIPDGFENIPEQLSCESERYTANIKKVLDEDSDGISPEEHLLSGITDLCLQDLPLK
  ERIFTKLSYPQDNLQPDVNLKTLSILSVKESCIANSGSDCTSHLSKDLPGIPLQNESRDSKILKGDQLLQEDYKV
  NTSVPYSVSNTVVKTCNVRPPNTALDHSRKVDMQTTRKILMKKSVCLDRHSSDEQSAPVFGKAKYTTQRMKHSSQ
  KHNSSHFKESGHNKLSSPKIHIKETEQCVRSYETAENEESCFPDSTKSSLSSLQCHKKENNSGTCLDSPLPLRQR
  LKLRFQST

• Structural information:
  • Interpro: IPR036279  IPR041012  IPR008918  IPR029060  IPR006086   IPR006084  IPR006085  
  • PDB: 5T9J
  • PDBsum: 5T9J
  • STRING: ENSP00000318977
• Other Databases: GeneCards:  GEN1  Malacards:  GEN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0048256	flap endonuclease activity	IBA	molecular function
GO:0000400	four-way junction DNA binding	IBA	molecular function
GO:0017108	5'-flap endonuclease activity	IBA	molecular function
GO:0005813	centrosome	IDA	cellular component
GO:0008821	crossover junction endodeoxyribonuclease activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0031297	replication fork processing	IDA	biological process
GO:0008821	crossover junction endodeoxyribonuclease activity	IDA	molecular function
GO:0008821	crossover junction endodeoxyribonuclease activity	IDA	molecular function
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0000400	four-way junction DNA binding	IDA	molecular function
GO:0000400	four-way junction DNA binding	IDA	molecular function
GO:0017108	5'-flap endonuclease activity	IDA	molecular function
GO:0000400	four-way junction DNA binding	IDA	molecular function
GO:0090267	positive regulation of mitotic cell cycle spindle assembly checkpoint	IMP	biological process
GO:0071140	resolution of mitotic recombination intermediates	IMP	biological process
GO:0071139	resolution of recombination intermediates	IMP	biological process
GO:0008821	crossover junction endodeoxyribonuclease activity	IMP	molecular function
GO:0010824	regulation of centrosome duplication	IMP	biological process
GO:0010824	regulation of centrosome duplication	IMP	biological process
GO:0000724	double-strand break repair via homologous recombination	IMP	biological process
GO:0004518	nuclease activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0004519	endonuclease activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005634	nucleus	IEA	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

Diseases

Associated diseases	References
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)