PET100

Protein identityUniProt · HPA

UniProt accession

P0DJ07

Gene

PET100

Ensembl

ENSG00000229833

Chromosome

19

Canonical length

73 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Mitochondria

OverviewNCBI Gene

Mitochondrial complex IV, or cytochrome c oxidase, is a large transmembrane protein complex that is part of the respiratory electron transport chain of mitochondria. The small protein encoded by this gene plays a role in the biogenesis of mitochondrial complex IV. This protein localizes to the inner mitochondrial membrane and is exposed to the intermembrane space. Mutations in this gene are associated with mitochondrial complex IV deficiency. This gene has a pseudogene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

Canonical amino-acid sequenceUniProt

73 residues, UniProt reviewed canonical sequence.

>P0DJ07|PET100
     1  MGVKLEIFRM IIYLTFPVAM FWVSNQAEWF EDDVIQRKRE LWPPEKLQEI EEFKERLRKR
    61  REEKLLRDAQ QNS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PET100 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

1

Mean surface accessibility (rSASA)

0.52

Highest tissue expression

224 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PET100.

Disease | AllUniProt

Conditions PET100 is implicated in, by any mechanism.

• Mitochondrial complex IV deficiency, nuclear type 12 (MC4DN12) MIM:619055

Disease | GeneticClinVar

11 pathogenic / likely-pathogenic of 115 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial complex IV deficiency, nuclear type 12
• Mitochondrial complex IV deficiency, nuclear type 1
• PET100-related disorder
• Congenital lactic acidosis

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)

1.82

gnomAD pLI

0

gnomAD missense Z

0.24

DepMap mean gene effect

-0.13

DepMap dependency class

selective

OntologyGO

Biological processes

• mitochondrial respiratory chain complex IV assembly

Molecular functions

• unfolded protein binding

Cellular components

• mitochondrial inner membrane
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Protein Pet100
• Pet100

KeywordsUniProt

• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Primary mitochondrial disease
• Transit peptide
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of PET100 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• COX7A2