Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	539
Gene name	ATP synthase peripheral stalk subunit OSCP
Gene symbol	ATP5PO
Synonyms (NCBI Gene)	ATP5OATPOHMC08D05MC5DN7OSCP
Chromosome	21
Chromosome location	21q22.11
Summary	The protein encoded by this gene is a component of the F-type ATPase found in the mitochondrial matrix. F-type ATPases are composed of a catalytic core and a membrane proton channel. The encoded protein appears to be part of the connector linking these tw

32 Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	21516116, 25416956, 27499296, 30021884, 30266287, 32296183, 32814053
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	12110673, 15850986, 17851741
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:0005886	Component	Plasma membrane	IDA	17851741
GO:0006754	Process	ATP biosynthetic process	IEA
GO:0006754	Process	ATP biosynthetic process	NAS	17851741
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0009986	Component	Cell surface	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:0016887	Function	ATP hydrolysis activity	IEA
GO:0042776	Process	Proton motive force-driven mitochondrial ATP synthesis	IBA
GO:0042776	Process	Proton motive force-driven mitochondrial ATP synthesis	IMP	15850986
GO:0044877	Function	Protein-containing complex binding	IEA
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	7490082, 26297831
GO:0046933	Function	Proton-transporting ATP synthase activity, rotational mechanism	IBA
GO:0046933	Function	Proton-transporting ATP synthase activity, rotational mechanism	IDA	12110673
GO:0046933	Function	Proton-transporting ATP synthase activity, rotational mechanism	IEA
GO:0071320	Process	Cellular response to cAMP	IEA
GO:0071345	Process	Cellular response to cytokine stimulus	IEA
GO:1902600	Process	Proton transmembrane transport	IEA
GO:1902600	Process	Proton transmembrane transport	NAS	17851741
GO:1903924	Function	Estradiol binding	IEA

MIM	HGNC	e!Ensembl
600828	850	ENSG00000241837

P48047

Protein name

ATP synthase peripheral stalk subunit OSCP, mitochondrial (ATP synthase subunit O) (Oligomycin sensitivity conferral protein) (OSCP)

Protein function

Subunit OSCP, 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 r

PDB

8H9E , 8H9I , 8H9L , 8H9P , 8H9S , 8H9T , 8H9U , 8H9V , 8KI3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00213	OSCP	37 → 209	ATP synthase delta (OSCP) subunit	Family

Sequence

MAAPAVSGLSRQVRCFSTSVVRPFAKLVRPPVQVYGIEGRYATALYSAASKQNKLEQVEK
ELLRVAQILKEPKVAASVLNPYVKRSIKVKSLNDITAKERFSPLTTNLINLLAENGRLSN
TQGVVSAFSTMMSVHRGEVPCTVTSASPLEEATLSELKTVLKSFLSQGQVLKLEAKTDPS
ILGGMIVRIGEKYVDMSVKTKIQKLGRAMREIV

Sequence length

213

Interactions

View interactions

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

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar Show/Hide Causal Diseases (7)
ATP5PO-related disorder	Likely pathogenic; Pathogenic	rs1987287870	RCV001257515	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dysphagia	Pathogenic	rs772964701, rs146520965	RCV002468757 RCV002468762	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leigh syndrome	Likely pathogenic; Pathogenic	rs1987287870	RCV001290417	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Pathogenic	rs772964701, rs146520965	RCV002468757 RCV002468762	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7	Pathogenic; Likely pathogenic	rs772964701, rs146520965, rs1987287870	RCV003226545 RCV003226546 RCV003227945	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Pathogenic	rs772964701, rs146520965	RCV002468757 RCV002468762	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe global developmental delay	Pathogenic	rs772964701, rs146520965	RCV002468757 RCV002468762	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
DEGLUTITION DISORDERS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX V DEFICIENCY, NUCLEAR TYPE 7	—	ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
mitochondrial disease	—	ClinGen	ClinGen report	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (10)
Autoimmune Diseases	Autoimmune Diseases	BEFREE	29671346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35414767	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	11703366	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	19274082	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	19274082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	28019128	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	11703366	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Insomnia Fatal Familial	Insomnia	Pubtator	27338255	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33607292	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	26397997	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ATP5F1E	2	["Mitochondrial complex deficiency","Mitochondrial disease"]	8	["Oxidative phosphorylation","Thermogenesis","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy","Formation of ATP by chemiosmotic coupling","Cristae formation"]	4	["ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)"]
UQCRH	2	["Mitochondrial complex deficiency","Mitochondrial disease"]	6	["Oxidative phosphorylation","Thermogenesis","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy"]	4	["ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)"]
ATP5F1D	2	["Mitochondrial complex deficiency","Mitochondrial disease"]	8	["Oxidative phosphorylation","Thermogenesis","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy","Formation of ATP by chemiosmotic coupling","Cristae formation"]	4	["ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)"]
NDUFA8	2	["Mitochondrial complex deficiency","Mitochondrial disease"]	6	["Oxidative phosphorylation","Thermogenesis","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy"]	4	["ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)"]
NDUFB10	2	["Mitochondrial complex deficiency","Mitochondrial disease"]	6	["Oxidative phosphorylation","Thermogenesis","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy"]	4	["ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)"]

ATP5PO (ATP synthase peripheral stalk subunit OSCP)

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