ATP5F1E

Protein identityUniProt · HPA

UniProt accession

P56381

Gene

ATP5F1E

Ensembl

ENSG00000124172

Chromosome

20

Canonical length

51 aa

Protein class

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

Quaternary structure

Homooctamer

OverviewNCBI Gene

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the epsilon subunit of the catalytic core. Two pseudogenes of this gene are located on chromosomes 4 and 13. Read-through transcripts that include exons from this gene are expressed from the upstream gene SLMO2.[provided by RefSeq, Mar 2011]

Canonical amino-acid sequenceUniProt

51 residues, UniProt reviewed canonical sequence.

>P56381|ATP5F1E
     1  MVAYWRQAGL SYIRYSQICA KAVRDALKTE FKANAEKTSG SNVKIVKVKK E

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ATP5F1E 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

0

Mean surface accessibility (rSASA)

0.55

Highest tissue expression

225 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ATP5F1E.

Disease | AllUniProt

Conditions ATP5F1E is implicated in, by any mechanism.

• Mitochondrial complex V deficiency, nuclear type 3 (MC5DN3) MIM:614053

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 39 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3

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)

1.79

gnomAD pLI

0.01

DepMap mean gene effect

-0.9

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• proton motive force-driven ATP synthesis
• proton motive force-driven mitochondrial ATP synthesis

Molecular functions

• hydrolase activity
• proton-transporting ATP synthase activity, rotational mechanism

Cellular components

• mitochondrial inner membrane
• mitochondrial matrix
• mitochondrion
• proton-transporting ATP synthase complex

Protein domainsUniProt · Pfam · InterPro

• ATP synthase, F1 complex, epsilon subunit, mitochondrial
• ATP synthase, F1 complex, epsilon subunit superfamily, mitochondrial
• Mitochondrial ATP synthase epsilon chain

KeywordsUniProt

• Acetylation
• ATP synthesis
• CF(1)
• Hydrogen ion transport
• Hydrolase
• Ion transport
• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Primary mitochondrial disease
• Transport

InteractionsUniProt · HPA

Protein binding partners of ATP5F1E in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ATP5F1D