PEX10
Peroxisome biogenesis factor 10
Also known as: PEX10_HUMAN, RNF69
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O60683
- Gene
- PEX10
- Ensembl
- ENSG00000157911
- Chromosome
- 1
- Canonical length
- 326 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
OverviewNCBI Gene
This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
326 residues, UniProt reviewed canonical sequence.
>O60683|PEX10
1 MAPAAASPPE VIRAAQKDEY YRGGLRSAAG GALHSLAGAR KWLEWRKEVE LLSDVAYFGL
61 TTLAGYQTLG EEYVSIIQVD PSRIHVPSSL RRGVLVTLHA VLPYLLDKAL LPLEQELQAD
121 PDSGRPLQGS LGPGGRGCSG ARRWMRHHTA TLTEQQRRAL LRAVFVLRQG LACLQRLHVA
181 WFYIHGVFYH LAKRLTGITY LRVRSLPGED LRARVSYRLL GVISLLHLVL SMGLQLYGFR
241 QRQRARKEWR LHRGLSHRRA SLEERAVSRN PLCTLCLEER RHPTATPCGH LFCWECITAW
301 CSSKAECPLC REKFPPQKLI YLRHYRLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PEX10 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
- Other membrane
- Secreted
- No
- Transmembrane segments
- 5
- Mean surface accessibility (rSASA)
- 0.37
- Highest tissue expression
- 34 nTPM
Expression across tissuesHPA
Tissue
- spinal cord: 34 nTPM
- amygdala: 32 nTPM
- midbrain: 31 nTPM
- cerebral cortex: 31 nTPM
- basal ganglia: 30 nTPM
- hippocampal formation: 28 nTPM
Single-cell type
- late spermatids: 367 nCPM
- early primary spermatocytes: 69 nCPM
- early spermatids: 57 nCPM
- differentiating spermatogonia: 52 nCPM
- esophageal suprabasal cells: 49 nCPM
- epididymal principal cells: 47 nCPM
Immune cell
- myeloid DC: 9.4 nTPM
- intermediate monocyte: 8.7 nTPM
- plasmacytoid DC: 7.8 nTPM
- non-classical monocyte: 7.6 nTPM
- memory B-cell: 6 nTPM
- classical monocyte: 5.8 nTPM
Brain region
- medulla oblongata: 35 nTPM
- white matter: 34 nTPM
- basal ganglia: 32 nTPM
- spinal cord: 31 nTPM
- thalamus: 31 nTPM
- cerebellum: 31 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PEX10.
Disease | AllUniProt
Conditions PEX10 is implicated in, by any mechanism.
- Peroxisome biogenesis disorder complementation group 7 (PBD-CG7) MIM:614870
- Peroxisome biogenesis disorder 6A (PBD6A) MIM:614870
- Peroxisome biogenesis disorder 6B (PBD6B) MIM:614871
Disease | GeneticClinVar
142 pathogenic / likely-pathogenic of 864 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Peroxisome biogenesis disorder, complementation group 7
- Peroxisome biogenesis disorder 6A (Zellweger)
- Zellweger spectrum disorders
- Peroxisome biogenesis disorder 6B
- Peroxisome biogenesis disorder
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)
- 0.86
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.29
- DepMap mean gene effect
- -0.12
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to reactive oxygen species
- peroxisome organization
- proteasome-mediated ubiquitin-dependent protein catabolic process
- protein import into peroxisome matrix
- protein import into peroxisome matrix, receptor recycling
- protein import into peroxisome matrix, substrate release
- protein polyubiquitination
- protein quality control for misfolded or incompletely synthesized proteins
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PEX10 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 PEX10 as an antibody target. Whether an autoantibody or antibody against PEX10 could matter depends on whether native PEX10 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PEX10 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 PEX10 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...