• Gene id: 286257

Gene Summary

• Gene Symbol: PAXX   Gene   UCSC   Ensembl
• Aliases: C9orf142, XLS
• Gene name: PAXX non-homologous end joining factor
• Alternate names: protein PAXX, XRCC4-like small protein, paralog of XRCC4 and XLF,
• Gene location: 9q34.3 (136992421: 136993975)     Exons: 7     NC_000009.12
• Gene summary(Entrez): The protein encoded by this gene plays a role in the nonhomologous end joining (NHEJ) pathway of DNA double-strand break repair. The encoded protein may function to stabilize the Ku70/Ku80 heterodimer to facilitate the assembly and maintain the stability
• OMIM: 138248

Protein Summary

• Protein general information: Q9BUH6  
  • Name: Protein PAXX (Paralog of XRCC4 and XLF) (XRCC4 like small protein)
  • Length: 204  
  • Mass: 21640
• Sequence:

  MDPLSPPLCTLPPGPEPPRFVCYCEGEESGEGDRGGFNLYVTDAAELWSTCFTPDSLAALKARFGLSAAEDITPR
  FRAACEQQAVALTLQEDRASLTLSGGPSALAFDLSKVPGPEAAPRLRALTLGLAKRVWSLERRLAAAEETAVSPR
  KSPRPAGPQLFLPDPDPQRGGPGPGVRRRCPGESLINPGFKSKKPAGGVDFDET

• Structural information:
  • Protein Domains: (37..7-)
    (/note="PISA-)
    (/evidence="ECO:0000305"-)
  • Interpro: IPR027873  
  • PDB: 3WTD 3WTF 4WJA
  • PDBsum: 3WTD 3WTF 4WJA
  • DIP: 61486
  • STRING: ENSP00000360682
• Other Databases: GeneCards:  PAXX  Malacards:  PAXX

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070419	nonhomologous end joining complex	IBA	cellular component
GO:0006303	double-strand break repair via nonhomologous end joining	IBA	biological process
GO:0060090	molecular adaptor activity	IBA	molecular function
GO:0051103	DNA ligation involved in DNA repair	IBA	biological process
GO:0035861	site of double-strand break	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0070419	nonhomologous end joining complex	IDA	cellular component
GO:0070419	nonhomologous end joining complex	IDA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0060090	molecular adaptor activity	IDA	molecular function
GO:0043564	Ku70:Ku80 complex	IDA	colocalizes with
GO:0035861	site of double-strand break	IDA	cellular component
GO:0006303	double-strand break repair via nonhomologous end joining	IMP	biological process
GO:0006303	double-strand break repair via nonhomologous end joining	IMP	biological process
GO:0006303	double-strand break repair via nonhomologous end joining	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051103	DNA ligation involved in DNA repair	IMP	biological process
GO:0006303	double-strand break repair via nonhomologous end joining	IEA	biological process
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:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq