ATP5PF (ATP synthase peripheral stalk subunit F6)

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Gene Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 522
• Gene name: ATP synthase peripheral stalk subunit F6
• Gene symbol: ATP5PF
• Synonyms (NCBI Gene): ATP5, ATP5A, ATP5J, ATPM, CF6, F6
• Chromosome: 21
• Chromosome location: 21q21.3
• 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) Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	27499296, 30021884, 32296183, 33961781
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IC	12110673
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	1825642
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: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:0021762	Process	Substantia nigra development	HEP	22926577
GO:0042776	Process	Proton motive force-driven mitochondrial ATP synthesis	IDA	12110673
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: 603152
• HGNC: 847
• e!Ensembl: ENSG00000154723

Protein

• UniProt ID: P18859
• Protein name: ATP synthase peripheral stalk subunit F6, mitochondrial (ATPase subunit F6) (ATP synthase peripheral stalk subunit F6)
• Protein function: Subunit F6, 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 res
• PDB: 8H9G , 8H9K , 8H9N , 8H9R , 8H9S , 8H9T , 8H9U , 8H9V , 8KI3
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05511	ATP-synt_F6	1 → 97	Mitochondrial ATP synthase coupling factor 6	Family

• Sequence:

  MILQRLFRFSSVIRSAVSVHLRRNIGVTAVAFNKELDPIQKLFVDKIREYKSKRQTSGGP
  VDASSEYQQELERELFKLKQMFGNADMNTFPTFKFEDPKFEVIEKPQA

• Sequence length: 108

Pathways

KEGG Pathway	Reactome Pathway
Oxidative phosphorylation	Formation of ATP by chemiosmotic coupling
Metabolic pathways	Cristae formation
Thermogenesis
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy

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	Reference	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	31055733	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASES	—	CTD, Disgenet CTD, Disgenet	16844662	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (22)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alopecia	Alopecia	BEFREE	30385152		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	23836404	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	30086823		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	3838727	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28359367		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24124598, 29484395		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24124598, 29484395	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28359367		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	LHGDN	17456993		★☆☆☆☆ Found in Text Mining only
Dementia Vascular	Vascular dementia	Pubtator	24448401	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	22038518		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	17174010, 22038518		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28359367, 28731155		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	CTD_human_DG	16844662		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	LHGDN	16230521		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	19106112, 22038518, 28359367		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	LHGDN	14633154		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	LHGDN	15709156		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	15785006		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	LHGDN	14633154		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24124598		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	26238294		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

HSPB6 1 shared diseaseHeart disease 2 shared evidence sourcesDisgenet (Heart disease), CTD (Heart disease) Related via 1 shared disease including Heart disease — evidence mostly Disgenet. ATP5ME 1 shared diseaseHeart disease 4 shared pathwaysOxidative phosphorylation, Thermogenesis, Formation of ATP by chemiosmotic coupling, Cristae formation 2 shared evidence sourcesDisgenet (Heart disease), CTD (Heart disease) Related via 4 shared pathways including Oxidative phosphorylation, Thermogenesis — evidence mostly Disgenet. PTGIR 1 shared diseaseHeart disease 2 shared evidence sourcesDisgenet (Heart disease), CTD (Heart disease) Related via 1 shared disease including Heart disease — evidence mostly Disgenet. ATP5PD 8 shared pathwaysOxidative phosphorylation, Thermogenesis, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Formation of ATP by chemiosmotic coupling, Cristae formation Related via 8 shared pathways including Oxidative phosphorylation, Thermogenesis. ATP6 8 shared pathwaysOxidative phosphorylation, Thermogenesis, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Formation of ATP by chemiosmotic coupling, Cristae formation Related via 8 shared pathways including Oxidative phosphorylation, Thermogenesis.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
HSPB6	1	["Heart disease"]	0	[]	2	["Disgenet (Heart disease)","CTD (Heart disease)"]
ATP5ME	1	["Heart disease"]	4	["Oxidative phosphorylation","Thermogenesis","Formation of ATP by chemiosmotic coupling","Cristae formation"]	2	["Disgenet (Heart disease)","CTD (Heart disease)"]
PTGIR	1	["Heart disease"]	0	[]	2	["Disgenet (Heart disease)","CTD (Heart disease)"]
ATP5PD	0	[]	8	["Oxidative phosphorylation","Thermogenesis","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy","Formation of ATP by chemiosmotic coupling","Cristae formation"]	0	[]
ATP6	0	[]	8	["Oxidative phosphorylation","Thermogenesis","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy","Formation of ATP by chemiosmotic coupling","Cristae formation"]	0	[]

Diseases Linked via Similar Genes

Oculocutaneous albinism Linked via 1 of 5 related genesATP5ME Retinitis pigmentosa Linked via 1 of 5 related genesATP5ME Asthma Linked via 1 of 5 related genesPTGIR Crohn disease Linked via 1 of 5 related genesPTGIR Inflammatory bowel disease Linked via 1 of 5 related genesPTGIR

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Oculocutaneous albinism	1	["ATP5ME"]
Retinitis pigmentosa	1	["ATP5ME"]
Asthma	1	["PTGIR"]
Crohn disease	1	["PTGIR"]
Inflammatory bowel disease	1	["PTGIR"]