• Gene id: 55355

Gene Summary

• Gene Symbol: HJURP   Gene   UCSC   Ensembl
• Aliases: FAKTS, URLC9, hFLEG1
• Gene name: Holliday junction recognition protein
• Alternate names: Holliday junction recognition protein, 14-3-3-associated AKT substrate, fetal liver expressing gene 1, fetal liver-expressing gene 1 protein, up-regulated in lung cancer 9,
• Gene location: 2q37.1 (233854565: 233836700)     Exons: 9     NC_000002.12
• OMIM: 612667

Protein Summary

• Protein general information: Q8NCD3  
  • Name: Holliday junction recognition protein (14 3 3 associated AKT substrate) (Fetal liver expressing gene 1 protein) (Up regulated in lung cancer 9)
  • Length: 748  
  • Mass: 83539
  • Tissue specificity: According to PubMed
• Sequence:

  MLGTLRAMEGEDVEDDQLLQKLRASRRRFQRRMQRLIEKYNQPFEDTPVVQMATLTYETPQGLRIWGGRLIKERN
  EGEIQDSSMKPADRTDGSVQAAAWGPELPSHRTVLGADSKSGEVDATSDQEESVAWALAPAVPQSPLKNELRRKY
  LTQVDILLQGAEYFECAGNRAGRDVRVTPLPSLASPAVPAPGYCSRISRKSPGDPAKPASSPREWDPLHPSSTDM
  ALVPRNDSLSLQETSSSSFLSSQPFEDDDICNVTISDLYAGMLHSMSRLLSTKPSSIISTKTFIMQNWNSRRRHR
  YKSRMNKTYCKGARRSQRSSKENFIPCSEPVKGTGALRDCKNVLDVSCRKTGLKLEKAFLEVNRPQIHKLDPSWK
  ERKVTPSKYSSLIYFDSSATYNLDEENRFRTLKWLISPVKIVSRPTIRQGHGENRQREIEIRFDQLHREYCLSPR
  NQPRRMCLPDSWAMNMYRGGPASPGGLQGLETRRLSLPSSKAKAKSLSEAFENLGKRSLEAGRCLPKSDSSSSLP
  KTNPTHSATRPQQTSDLHVQGNSSGIFRKSVSPSKTLSVPDKEVPGHGRNRYDEIKEEFDKLHQKYCLKSPGQMT
  VPLCIGVSTDKASMEVRYQTEGFLGKLNPDPHFQGFQKLPSSPLGCRKSLLGSTAIEAPSSTCVARAITRDGTRD
  HQFPAKRPRLSEPQGSGRQGNSLGASDGVDNTVRPGDQGSSSQPNSEERGENTSYRMEEKSDFMLEKLETKSV

• Structural information:
  • Interpro: IPR021052  IPR022102  IPR018465  
  • PDB: 3R45
  • PDBsum: 3R45
  • DIP: 53282
  • STRING: ENSP00000414109
• Other Databases: GeneCards:  HJURP  Malacards:  HJURP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051101	regulation of DNA binding	IDA	biological process
GO:0043254	regulation of protein-containing complex assembly	IDA	biological process
GO:0042393	histone binding	IDA	molecular function
GO:0005730	nucleolus	IDA	cellular component
GO:0000777	condensed chromosome kinetochore	IDA	cellular component
GO:0042393	histone binding	IPI	molecular function
GO:0042393	histone binding	IPI	molecular function
GO:0034080	CENP-A containing nucleosome assembly	IMP	biological process
GO:0034080	CENP-A containing nucleosome assembly	IMP	biological process
GO:0007059	chromosome segregation	IMP	biological process
GO:0007059	chromosome segregation	IMP	biological process
GO:0042393	histone binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0034080	CENP-A containing nucleosome assembly	TAS	biological process
GO:0042802	identical 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:0005730	nucleolus	IEA	cellular component
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0000775	chromosome, centromeric region	IDA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Spermatogenic defects	MIK: 31037746
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)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R