PAXX
Protein PAXX
Also known as: C9orf142, PAXX_HUMAN, XLS
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BUH6
- Gene
- PAXX
- Ensembl
- ENSG00000148362
- Chromosome
- 9
- Canonical length
- 204 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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 of the NHEJ complex. [provided by RefSeq, Jul 2016]
Canonical amino-acid sequenceUniProt
204 residues, UniProt reviewed canonical sequence.
>Q9BUH6|PAXX
1 MDPLSPPLCT LPPGPEPPRF VCYCEGEESG EGDRGGFNLY VTDAAELWST CFTPDSLAAL
61 KARFGLSAAE DITPRFRAAC EQQAVALTLQ EDRASLTLSG GPSALAFDLS KVPGPEAAPR
121 LRALTLGLAK RVWSLERRLA AAEETAVSPR KSPRPAGPQL FLPDPDPQRG GPGPGVRRRC
181 PGESLINPGF KSKKPAGGVD FDETLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PAXX can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.46
- Highest tissue expression
- 67 nTPM
Expression across tissuesHPA
Tissue
- spinal cord: 67 nTPM
- midbrain: 54 nTPM
- amygdala: 50 nTPM
- hippocampal formation: 48 nTPM
- basal ganglia: 45 nTPM
- spleen: 45 nTPM
Single-cell type
- pdcs: 272 nCPM
- extravillous trophoblasts: 246 nCPM
- migrating cytotrophoblasts: 204 nCPM
- cytotrophoblasts: 173 nCPM
- nk-cells: 146 nCPM
- esophageal basal cells: 127 nCPM
Immune cell
- plasmacytoid DC: 239 nTPM
- gdT-cell: 143 nTPM
- memory CD8 T-cell: 124 nTPM
- MAIT T-cell: 123 nTPM
- naive CD8 T-cell: 99 nTPM
- NK-cell: 88 nTPM
Brain region
- medulla oblongata: 46 nTPM
- white matter: 44 nTPM
- spinal cord: 41 nTPM
- midbrain: 40 nTPM
- cerebellum: 38 nTPM
- pons: 38 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.06
- gnomAD pLI
- 0.01
- DepMap mean gene effect
- -0.04
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- DNA polymerase binding
- identical protein binding
- molecular adaptor activity
- protein homodimerization activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Protein PAXX
- Protein PAXX, N-terminal domain
- PAXX, PAralog of XRCC4 and XLF, also called C9orf142
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PAXX in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PAXX as an antibody target. Whether an autoantibody or antibody against PAXX could matter depends on whether native PAXX is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PAXX is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label PAXX as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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