PET117
Protein PET117 homolog, mitochondrial
Also known as: CSRP2BP, PT117_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q6UWS5
- Gene
- PET117
- Ensembl
- ENSG00000232838
- Chromosome
- 20
- Canonical length
- 81 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Secretome location
- Intracellular and membrane
OverviewNCBI Gene
Predicted to be involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrion. Implicated in mitochondrial complex IV deficiency nuclear type 19. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
81 residues, UniProt reviewed canonical sequence.
>Q6UWS5|PET117
1 MSRSSKVVLG LSVLLTAATV AGVHVKQQWD QQRLRDGVIR DIERQIRKKE NIRLLGEQII
61 LTEQLEAERE KMLLAKGSQK SLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PET117 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)
- 0.5
- Highest tissue expression
- 17 nTPM
Expression across tissuesHPA
Tissue
- choroid plexus: 17 nTPM
- basal ganglia: 16 nTPM
- cerebral cortex: 15 nTPM
- stomach: 15 nTPM
- adrenal gland: 14 nTPM
- skeletal muscle: 14 nTPM
Single-cell type
- proximal tubule cells: 1 nCPM
- renal collecting duct principal cells: 0.8 nCPM
- distal convoluted tubule cells: 0.7 nCPM
- loop of henle epithelial cells: 0.6 nCPM
- nk-cells: 0.5 nCPM
- podocytes: 0.5 nCPM
Immune cell
- plasmacytoid DC: 41 nTPM
- naive CD4 T-cell: 31 nTPM
- non-classical monocyte: 29 nTPM
- memory B-cell: 25 nTPM
- classical monocyte: 24 nTPM
- naive CD8 T-cell: 24 nTPM
Brain region
- choroid plexus: 8 nTPM
- white matter: 7.9 nTPM
- cerebral cortex: 7 nTPM
- pons: 6.5 nTPM
- hypothalamus: 6.4 nTPM
- basal ganglia: 6.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PET117.
Disease | AllUniProt
Conditions PET117 is implicated in, by any mechanism.
- Mitochondrial complex IV deficiency, nuclear type 19 (MC4DN19) MIM:619063
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 18 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Mitochondrial complex IV deficiency, nuclear type 19
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)
- 1.83
- gnomAD pLI
- 0.03
- gnomAD missense Z
- 0.47
- DepMap mean gene effect
- -0.12
- DepMap dependency class
- selective
OntologyGO
Biological processes
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Protein Pet117, mitochondrial
- PET assembly of cytochrome c oxidase, mitochondrial
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PET117 as an antibody target. Whether an autoantibody or antibody against PET117 could matter depends on whether native PET117 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PET117 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 PET117 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...