ATP5ME (ATP synthase membrane subunit e)

Gene

• Entrez ID: 521
• Gene name: ATP synthase membrane subunit e
• Gene symbol: ATP5ME
• Synonyms (NCBI Gene): ATP5I, ATP5K
• Chromosome: 4
• Chromosome location: 4p16.3
• Summary: Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IC	12110673
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	NAS	26297831
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006754	Process	ATP biosynthetic process	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0015078	Function	Proton transmembrane transporter activity	IEA
GO:0015986	Process	Proton motive force-driven ATP synthesis	IEA
GO:0015986	Process	Proton motive force-driven ATP synthesis	NAS	26297831
GO:0016020	Component	Membrane	IEA
GO:0042776	Process	Proton motive force-driven mitochondrial ATP synthesis	IDA	12110673
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045259	Component	Proton-transporting ATP synthase complex	IBA
GO:0045259	Component	Proton-transporting ATP synthase complex	IDA	12110673
GO:0045259	Component	Proton-transporting ATP synthase complex	IEA
GO:0045259	Component	Proton-transporting ATP synthase complex	NAS	26297831
GO:0046933	Function	Proton-transporting ATP synthase activity, rotational mechanism	IDA	12110673
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 601519
• HGNC: 846
• e!Ensembl: ENSG00000169020

Protein

• UniProt ID: P56385
• Protein name: ATP synthase F(0) complex subunit e, mitochondrial (ATPase subunit e) (ATP synthase membrane subunit e) [Cleaved into: ATP synthase F(0) complex subunit e, mitochondrial, N-terminally processed]
• Protein function: Subunit e, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the resp
• PDB: 8H9F, 8H9J, 8H9M, 8H9Q, 8H9S, 8H9T, 8H9U, 8H9V, 8KHF, 8KI3
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05680	ATP-synt_E	2 → 68	ATP synthase E chain	Family

• Sequence:

  MVPPVQVSPLIKLGRYSALFLGVAYGATRYNYLKPRAEEERRIAAEEKKKQDELKRIARE
  LAEDDSILK

• Sequence length: 69

Pathways

KEGG:

Oxidative phosphorylation
Metabolic pathways
Thermogenesis

Reactome:

Formation of ATP by chemiosmotic coupling
Cristae formation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
HEART DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULOCUTANEOUS ALBINISM TYPE 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 40	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Hurthle Cell Tumor	Tumor	BEFREE	31514886		★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	37782287	Inhibit	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	37782287	Associate	★☆☆☆☆ Found in Text Mining only