Paxx non-homologous end joining factor [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Paxxprovided by MGI
Official Full Name: non-homologous end joining factorprovided by MGI
Primary source: MGI:MGI:2442831
See related: Ensembl:ENSMUSG00000047617 AllianceGenome:MGI:2442831
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: D930050G13Rik
Summary: Predicted to enable DNA polymerase binding activity; molecular adaptor activity; and protein homodimerization activity. Involved in double-strand break repair via nonhomologous end joining. Predicted to be located in nucleoplasm. Predicted to be part of Ku70:Ku80 complex and nonhomologous end joining complex. Predicted to be active in nucleus and site of double-strand break. Is expressed in brain; cortical plate; lung; spleen; and thymus. Orthologous to human PAXX (PAXX non-homologous end joining factor). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in liver adult (RPKM 28.1), thymus adult (RPKM 19.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 A3; 2 17.27 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (25345132..25352666, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (25455120..25462654, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Non-Homologous End Joining Factors XLF, PAXX and DNA-PKcs Maintain the Neural Stem and Progenitor Cell Population.
Title: Non-Homologous End Joining Factors XLF, PAXX and DNA-PKcs Maintain the Neural Stem and Progenitor Cell Population.
An in vivo study of the impact of deficiency in the DNA repair proteins PAXX and XLF on development and maturation of the hemolymphoid system.
Title: An in vivo study of the impact of deficiency in the DNA repair proteins PAXX and XLF on development and maturation of the hemolymphoid system.
Synthetic lethality between DNA repair factors Xlf and Paxx is rescued by inactivation of Trp53
Title: Synthetic lethality between DNA repair factors Xlf and Paxx is rescued by inactivation of Trp53.
Study reports that PAXX is dispensable for physiological non-homologous end-joining (NHEJ) in otherwise wild-type mice. Yet Paxx(-/-) mice require XLF and Xlf(-/-) mice require PAXX for end-ligation revealing distinct, yet critically complementary functions of PAXX and XLF during NHEJ.
Title: PAXX promotes KU accumulation at DNA breaks and is essential for end-joining in XLF-deficient mice.
we also find that PAXX deficiency has no impact on V(D)J recombination DSB joining in ATM-deficient pro-B lines. We discuss implications of these findings with respect to potential PAXX and XLF functions in C-NHEJ.
Title: PAXX and XLF DNA repair factors are functionally redundant in joining DNA breaks in a G1-arrested progenitor B-cell line.
PAXX and XLF proteins may have redundant functions during Non-homologous end joining.
Title: Deficiency of XLF and PAXX prevents DNA double-strand break repair by non-homologous end joining in lymphocytes.
Paxx/Xlf double-knockout mice display embryonic lethality associated with genomic instability, cell death in the central nervous system, and an almost complete block in lymphogenesis
Title: Synthetic lethality between PAXX and XLF in mammalian development.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (7) 1 citation
Targeted (1) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA polymerase binding	IEA Inferred from Electronic Annotation more info
enables DNA polymerase binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables molecular adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables molecular adaptor activity	ISO Inferred from Sequence Orthology more info
enables molecular adaptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in DNA damage response	ISO Inferred from Sequence Orthology more info
involved_in DNA damage response	ISS Inferred from Sequence or Structural Similarity more info
involved_in double-strand break repair via nonhomologous end joining	IBA Inferred from Biological aspect of Ancestor more info
involved_in double-strand break repair via nonhomologous end joining	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in double-strand break repair via nonhomologous end joining	ISO Inferred from Sequence Orthology more info
involved_in double-strand break repair via nonhomologous end joining	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of Ku70:Ku80 complex	ISO Inferred from Sequence Orthology more info
part_of Ku70:Ku80 complex	ISS Inferred from Sequence or Structural Similarity more info
part_of nonhomologous end joining complex	IBA Inferred from Biological aspect of Ancestor more info
part_of nonhomologous end joining complex	ISO Inferred from Sequence Orthology more info
part_of nonhomologous end joining complex	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
is_active_in site of double-strand break	IBA Inferred from Biological aspect of Ancestor more info
located_in site of double-strand break	ISO Inferred from Sequence Orthology more info
located_in site of double-strand break	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: protein PAXX

Names: paralog of XRCC4 and XLF

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_153557.2 → NP_705785.1 protein PAXX

See identical proteins and their annotated locations for NP_705785.1

Status: VALIDATED

Source sequence(s)

AL732557

Consensus CDS

CCDS15775.1

UniProtKB/Swiss-Prot

Q8C6V7, Q8K0Y7

Related

ENSMUSP00000109899.3, ENSMUST00000114261.9

Conserved Domains (1) summary

pfam15384
Location:10 → 205

PAXX; PAXX, PAralog of XRCC4 and XLF, also called C9orf142

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

25345132..25352666 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030249617.1 → XP_030105477.1 protein PAXX isoform X8

Conserved Domains (1) summary

pfam15384
Location:10 → 173

PAXX; PAralog of XRCC4 and XLF, also called C9orf142
XM_030249618.1 → XP_030105478.1 protein PAXX isoform X11

UniProtKB/TrEMBL

A2AJ30

Related

ENSMUSP00000120533.2, ENSMUST00000151239.2

Conserved Domains (1) summary

pfam15384
Location:10 → 193

PAXX; PAralog of XRCC4 and XLF, also called C9orf142
XM_036160674.1 → XP_036016567.1 protein PAXX isoform X2

Conserved Domains (1) summary

pfam15384
Location:10 → 165

PAXX; PAralog of XRCC4 and XLF, also called C9orf142
XM_006497865.4 → XP_006497928.1 protein PAXX isoform X7

Conserved Domains (1) summary

pfam15384
Location:10 → 174

PAXX; PAralog of XRCC4 and XLF, also called C9orf142
XM_006497867.4 → XP_006497930.1 protein PAXX isoform X10

UniProtKB/TrEMBL

A2AJ30

Conserved Domains (1) summary

pfam15384
Location:10 → 194

PAXX; PAralog of XRCC4 and XLF, also called C9orf142
XM_036160672.1 → XP_036016565.1 protein PAXX isoform X1

Conserved Domains (1) summary

pfam15384
Location:10 → 166

PAXX; PAralog of XRCC4 and XLF, also called C9orf142
XM_006497866.5 → XP_006497929.1 protein PAXX isoform X9

Conserved Domains (1) summary

pfam15384
Location:10 → 206

PAXX; PAralog of XRCC4 and XLF, also called C9orf142
XM_030249615.1 → XP_030105475.1 protein PAXX isoform X6

Conserved Domains (1) summary

pfam15384
Location:10 → 197

PAXX; PAralog of XRCC4 and XLF, also called C9orf142
XM_030249613.1 → XP_030105473.1 protein PAXX isoform X4

Conserved Domains (1) summary

pfam15384
Location:10 → 165

PAXX; PAralog of XRCC4 and XLF, also called C9orf142
XM_006497864.4 → XP_006497927.1 protein PAXX isoform X5

Conserved Domains (1) summary

pfam15384
Location:10 → 198

PAXX; PAralog of XRCC4 and XLF, also called C9orf142
XM_017317186.2 → XP_017172675.1 protein PAXX isoform X3

Conserved Domains (1) summary

pfam15384
Location:10 → 166

PAXX; PAralog of XRCC4 and XLF, also called C9orf142