ATP5MC3 (ATP synthase membrane subunit c locus 3)

Gene

• Entrez ID: 518
• Gene name: ATP synthase membrane subunit c locus 3
• Gene symbol: ATP5MC3
• Synonyms (NCBI Gene): ATP5G3, DYTSPG, P3
• Chromosome: 2
• Chromosome location: 2q31.1
• Summary: 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 lin

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	33753518
GO:0005739	Component	Mitochondrion	HTP	34800366
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:0006811	Process	Monoatomic ion transport	IEA
GO:0008289	Function	Lipid binding	IEA
GO:0015078	Function	Proton transmembrane transporter activity	IEA
GO:0015986	Process	Proton motive force-driven ATP synthesis	IBA
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:0031966	Component	Mitochondrial membrane	IEA
GO:0033177	Component	Proton-transporting two-sector ATPase complex, proton-transporting domain	IEA
GO:0045259	Component	Proton-transporting ATP synthase complex	IBA
GO:0045259	Component	Proton-transporting ATP synthase complex	IEA
GO:0045259	Component	Proton-transporting ATP synthase complex	NAS	26297831
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 602736
• HGNC: 843
• e!Ensembl: ENSG00000154518

Protein

• UniProt ID: P48201
• Protein name: ATP synthase F(0) complex subunit C3, mitochondrial (ATP synthase lipid-binding protein) (ATP synthase membrane subunit c locus 3) (ATP synthase proteolipid P3) (ATP synthase proton-transporting mitochondrial F(0) complex subunit C3) (ATPase protein 9) (A
• Protein function: Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases c
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00137	ATP-synt_C	76 → 138	ATP synthase subunit C	Family

• Sequence:

  MFACAKLACTPSLIRAGSRVAYRPISASVLSRPEASRTGEGSTVFNGAQNGVSQLIQREF
  QTSAISRDIDTAAKFIGAGAATVGVAGSGAGIGTVFGSLIIGYARNPSLKQQLFSYAILG
  FALSEAMGLFCLMVAFLILFAM

• Sequence length: 142

Pathways

KEGG:

Oxidative phosphorylation
Metabolic pathways
Thermogenesis
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
ATP5G3-associated disorder	Likely pathogenic	rs757411192	RCV001254117	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dystonia, early-onset, and/or spastic paraplegia	Pathogenic; Likely pathogenic	rs1199660343, rs1700730895, rs757411192	RCV003226584 RCV003226585 RCV001806091	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autistic Disorder	Autism	Pubtator	23088660	Associate	★☆☆☆☆ Found in Text Mining only