ATP5F1D

Protein identityUniProt · HPA

UniProt accession

P30049

Gene

ATP5F1D

Ensembl

ENSG00000099624

Chromosome

19

Canonical length

168 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Transporters

Subcellular location

Mitochondria,Connecting piece,Flagellar centriole,Principal piece

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 delta subunit of the catalytic core. Alternatively spliced transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

168 residues, UniProt reviewed canonical sequence.

>P30049|ATP5F1D
     1  MLPAALLRRP GLGRLVRHAR AYAEAAAAPA AASGPNQMSF TFASPTQVFF NGANVRQVDV
    61  PTLTGAFGIL AAHVPTLQVL RPGLVVVHAE DGTTSKYFVS SGSIAVNADS SVQLLAEEAV
   121  TLDMLDLGAA KANLEKAQAE LVGTADEATR AEIQIRIEAN EALVKALE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ATP5F1D 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)

0.39

Highest tissue expression

784 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ATP5F1D.

Disease | AllUniProt

Conditions ATP5F1D is implicated in, by any mechanism.

• Mitochondrial complex V deficiency, nuclear type 5 (MC5DN5) MIM:618120

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 171 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial complex V (ATP synthase) deficiency, nuclear type 5
• Decreased activity of mitochondrial ATP synthase complex
• Mitochondrial disease

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)

1.46

gnomAD pLI

0.07

DepMap mean gene effect

-0.69

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• aerobic respiration
• mitochondrial proton-transporting ATP synthase complex assembly
• proton motive force-driven ATP synthesis
• proton motive force-driven mitochondrial ATP synthesis
• response to copper ion

Molecular functions

• proton-transporting ATP synthase activity, rotational mechanism
• structural molecule activity

Cellular components

• centriole
• mitochondrial inner membrane
• mitochondrial matrix
• mitochondrion
• proton-transporting ATP synthase complex
• sperm head-tail coupling apparatus
• sperm principal piece

Protein domainsUniProt · Pfam · InterPro

• ATP synthase, F1 complex, delta/epsilon subunit
• ATP synthase, F1 complex, delta/epsilon subunit, N-terminal
• F0F1 ATP synthase delta/epsilon subunit, N-terminal
• ATP synthase delta/epsilon subunit, C-terminal domain superfamily
• F1F0-ATP synthase delta subunit, C-terminal domain, metazoan
• ATP synthase, Delta/Epsilon chain, beta-sandwich domain
• Metazoan delta subunit of F1F0-ATP synthase, C-terminal domain

KeywordsUniProt

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

InteractionsUniProt · HPA

Protein binding partners of ATP5F1D in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ATP5F1E
• ATP5PB
• ATP5PF