• Gene id: 539

Gene Summary

• Gene Symbol: ATP5PO   Gene   UCSC   Ensembl
• Aliases: ATP5O, ATPO, HMC08D05, OSCP
• Gene name: ATP synthase peripheral stalk subunit OSCP
• Alternate names: ATP synthase subunit O, mitochondrial, ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit, human ATP synthase OSCP subunit, oligomycin sensitivity conferral protein oscp-like protein, oligomycin sensitivity conferring protein,
• Gene location: 21q22.11 (33915803: 33903452)     Exons: 7     NC_000021.9
• Gene summary(Entrez): 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
• OMIM: 600828

SNPs

rs11769380

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.6002891C>T
NC_000007.13   g.6042522C>T
NG_008466.1   g.11216G>A|SEQ=[C/T]|GENE=PMS2

rs1059060

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.5977709T>A
NC_000007.14   g.5977709T>C
NC_000007.13   g.6017340T>A
NC_000007.13   g.6017340T>C
NG_008466.1   g.36398A>T
NG_008466.1   g.36398A>G
NM_000535.7   c.2324A>T
NM_000535.7   c.2324A>G
NM_000535.6   c.2324A>T
NM_000535.6   c.2324A>G
NM_000535.5  

Protein Summary

• Protein general information: P48047  
  • Name: ATP synthase subunit O, mitochondrial (ATP synthase peripheral stalk subunit OSCP) (Oligomycin sensitivity conferral protein) (OSCP)
  • Length: 213  
  • Mass: 23277
• Sequence:

  MAAPAVSGLSRQVRCFSTSVVRPFAKLVRPPVQVYGIEGRYATALYSAASKQNKLEQVEKELLRVAQILKEPKVA
  ASVLNPYVKRSIKVKSLNDITAKERFSPLTTNLINLLAENGRLSNTQGVVSAFSTMMSVHRGEVPCTVTSASPLE
  EATLSELKTVLKSFLSQGQVLKLEAKTDPSILGGMIVRIGEKYVDMSVKTKIQKLGRAMREIV

• Structural information:
  • Interpro: IPR026015  IPR020781  IPR000711  
  • Prosite: PS00389
  • STRING: ENSP00000290299
• Other Databases: GeneCards:  ATP5PO  Malacards:  ATP5PO

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015986	ATP synthesis coupled proton transport	IEA	biological process
GO:0046933	proton-transporting ATP synthase activity, rotational mechanism	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0006754	ATP biosynthetic process	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0042407	cristae formation	TAS	biological process
GO:0006754	ATP biosynthetic process	TAS	biological process
GO:0006754	ATP biosynthetic process	TAS	biological process
GO:0042776	mitochondrial ATP synthesis coupled proton transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0046933	proton-transporting ATP synthase activity, rotational mechanism	IDA	contributes to
GO:0005753	mitochondrial proton-transporting ATP synthase complex	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0008144	drug binding	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0005634	nucleus	HDA	cellular component
GO:0005739	mitochondrion	HDA	cellular component
GO:0006754	ATP biosynthetic process	NAS	biological process
GO:0042776	mitochondrial ATP synthesis coupled proton transport	IMP	biological process
GO:1902600	proton transmembrane transport	NAS	biological process
GO:0005753	mitochondrial proton-transporting ATP synthase complex	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05010	Alzheimer disease
hsa05016	Huntington disease
hsa05012	Parkinson disease
hsa04714	Thermogenesis
hsa00190	Oxidative phosphorylation

Diseases

Associated diseases	References
Alzheimer's disease	PMID:30266287
clear cell renal cell carcinoma	PMID:28672194
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881