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Paxx Gene Detail
Summary
  • Symbol
    Paxx
  • Name
    non-homologous end joining factor
  • Synonyms
    BC029214, D930050G13Rik, paralog of XRCC4 and XLF
  • Feature Type
    protein coding gene
  • IDs
    MGI:2442831
    NCBI Gene: 227622
Location & Maps
more
  • Sequence Map
    Chr2:25455141-25461094 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      5954 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 17.27 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    PAXX, PAXX, non-homologous end joining factor
  • Vertebrate Orthologs
    6
  • Human Ortholog
    PAXX, PAXX, non-homologous end joining factor
    Orthology source: HomoloGene, HGNC
  • Synonyms
    C9orf142, XLS
  • Links
    NCBI Gene ID: 286257
    neXtProt AC: NX_Q9BUH6
    UniProt: Q9BUH6

  • Chr Location
    9q34.3; chr9:136992418-136993976 (+)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    12 phenotypes from 1 allele in 1 genetic background
    21 phenotypes from multigenic genotypes
    4 images
    5 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele are viable, developmentally normal and fertile but show increased mortality induced by ionizing radiation and a mild reduction in splenic lymphocyte numbers.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000012109 VEGA Gene Model | MGI Sequence Detail 5954 C57BL/6J ±  kb
transcript OTTMUST00000028857 VEGA | MGI Sequence Detail 981 Not Applicable  
polypeptide OTTMUSP00000013052 VEGA | MGI Sequence Detail 205 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    96 from dbSNP Build 142
Protein
Information
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  • UniProt
    2 Sequences
  • InterPro Domains
    IPR027873 Protein PAXX
Molecular
Reagents
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  • All nucleic 43
    cDNA 43

    Microarray probesets 5
References
more
  • Summaries
    All 23
    Developmental Gene Expression 1
    Gene Ontology 2
    Phenotypes 5
  • Earliest
    J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
  • Latest
    J:238544 Liu X, et al., PAXX promotes KU accumulation at DNA breaks and is essential for end-joining in XLF-deficient mice. Nat Commun. 2017 Jan 04;8:13816

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/11/2017
MGI 6.10
The Jackson Laboratory