PAXX (PAXX non-homologous end joining factor)

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Gene Gene ontology Other IDs Protein Related genes Diseases linked via similar genes

Gene

• Entrez ID: 286257
• Gene name: PAXX non-homologous end joining factor
• Gene symbol: PAXX
• Synonyms (NCBI Gene): C9orf142, XLS
• Chromosome: 9
• Chromosome location: 9q34.3
• Summary: 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

Gene ontology (GO) Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25574025, 31548606, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	25574025
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IBA
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IDA	30250067
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IEA
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IMP	25574025, 25670504, 25941166
GO:0006974	Process	DNA damage response	IDA	25574025
GO:0006974	Process	DNA damage response	IEA
GO:0035861	Component	Site of double-strand break	IBA
GO:0035861	Component	Site of double-strand break	IDA	25670504
GO:0042802	Function	Identical protein binding	IPI	25574025
GO:0042803	Function	Protein homodimerization activity	IDA	25574025
GO:0043564	Component	Ku70:Ku80 complex	IDA	25670504
GO:0060090	Function	Molecular adaptor activity	IBA
GO:0060090	Function	Molecular adaptor activity	IDA	25670504
GO:0070182	Function	DNA polymerase binding	IPI	30250067
GO:0070419	Component	Nonhomologous end joining complex	IBA
GO:0070419	Component	Nonhomologous end joining complex	IDA	25670504, 25941166

Other IDs

• MIM: 616315
• HGNC: 27849
• e!Ensembl: ENSG00000310560

Protein

• UniProt ID: Q9BUH6
• Protein name: Protein PAXX (Paralog of XRCC4 and XLF) (XRCC4-like small protein)
• Protein function: Non-essential DNA repair protein involved in DNA non-homologous end joining (NHEJ); participates in double-strand break (DSB) repair and V(D)J recombination (PubMed:25574025, PubMed:25670504, PubMed:25941166, PubMed:27705800). May act as a scaff
• PDB: 3WTD , 3WTF , 4WJA , 7ZWA , 7ZYG , 8ASC , 8BH3 , 8BHV , 8BHY , 8EZA , 8EZB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15384	PAXX	8 → 204	PAXX, PAralog of XRCC4 and XLF, also called C9orf142	Family

• Sequence:

  MDPLSPPLCTLPPGPEPPRFVCYCEGEESGEGDRGGFNLYVTDAAELWSTCFTPDSLAAL
  KARFGLSAAEDITPRFRAACEQQAVALTLQEDRASLTLSGGPSALAFDLSKVPGPEAAPR
  LRALTLGLAKRVWSLERRLAAAEETAVSPRKSPRPAGPQLFLPDPDPQRGGPGPGVRRRC
  PGESLINPGFKSKKPAGGVDFDET

• Sequence length: 204

Related Genes

No strongly related genes found yet for PAXX.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to PAXX.