ATP5MC3

Protein identityUniProt · HPA

UniProt accession

P48201

Gene

ATP5MC3

Ensembl

ENSG00000154518

Chromosome

2

Canonical length

142 aa

Protein class

Disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters

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 seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding different proteins have been identified. [provided by RefSeq, Jun 2010]

Canonical amino-acid sequenceUniProt

142 residues, UniProt reviewed canonical sequence.

>P48201|ATP5MC3
     1  MFACAKLACT PSLIRAGSRV AYRPISASVL SRPEASRTGE GSTVFNGAQN GVSQLIQREF
    61  QTSAISRDID TAAKFIGAGA ATVGVAGSGA GIGTVFGSLI IGYARNPSLK QQLFSYAILG
   121  FALSEAMGLF CLMVAFLILF AM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ATP5MC3 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

2

Mean surface accessibility (rSASA)

0.52

Highest tissue expression

1,149 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ATP5MC3.

Disease | AllUniProt

Conditions ATP5MC3 is implicated in, by any mechanism.

• Dystonia, early-onset, and/or spastic paraplegia (DYTSPG) MIM:619681

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 37 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Dystonia, early-onset, and/or spastic paraplegia
• ATP5G3-associated 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)

0.83

gnomAD pLI

0.26

DepMap mean gene effect

0.03

DepMap dependency class

none

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

• proton motive force-driven ATP synthesis

Molecular functions

• lipid binding
• proton transmembrane transporter activity

Cellular components

• mitochondrial inner membrane
• mitochondrion
• proton-transporting ATP synthase complex
• proton-transporting two-sector ATPase complex, proton-transporting domain

Protein domainsUniProt · Pfam · InterPro

• ATP synthase, F0 complex, subunit C
• V-ATPase proteolipid subunit C-like domain
• ATP synthase, F0 complex, subunit C, DCCD-binding site
• F/V-ATP synthase subunit C superfamily
• F1F0 ATP synthase subunit C superfamily
• ATP synthase subunit C

KeywordsUniProt

• CF(0)
• Dystonia
• Hereditary spastic paraplegia
• Hydrogen ion transport
• Ion transport
• Lipid-binding
• Membrane
• Methylation
• Mitochondrion
• Neurodegeneration
• Transit peptide
• Transmembrane
• Transmembrane helix
• Transport

InteractionsUniProt · HPA

Protein binding partners of ATP5MC3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• TMEM242
• TMEM70