• Gene id: 4509

Gene Summary

• Gene Symbol: ATP8   Gene   UCSC   Ensembl
• Aliases: ATPase8, MTATP8
• Gene name: mitochondrially encoded ATP synthase 8
• OMIM: 0

Protein Summary

• Protein general information: P03928  
  • Name: ATP synthase protein 8 (A6L) (F ATPase subunit 8)
  • Length: 68  
  • Mass: 7,992
• Sequence:

  MPQLNTTVWPTMITPMLLTLFLITQLKMLNTNYHLPPSPKPMKMKNYNKPWEPKWTKICSLHSLPPQS

• Structural information:
  • Interpro: IPR001421  
  • STRING: ENSP00000355265
• Other Databases: GeneCards:  ATP8  Malacards:  ATP8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000276	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	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:0005753	mitochondrial proton-transporting ATP synthase complex	IDA	cellular component
GO:0006754	ATP biosynthetic process	TAS	biological process
GO:0006754	ATP biosynthetic process	TAS	biological process
GO:0015078	hydrogen ion transmembrane transporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0022857	transmembrane transporter activity	IC	molecular function
GO:0042776	mitochondrial ATP synthesis coupled proton transport	IC	biological process
GO:0042776	mitochondrial ATP synthesis coupled proton transport	TAS	biological process
GO:0055093	response to hyperoxia	IEA	biological process
GO:0016887	ATPase activity	IDA	molecular function
GO:0000276	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	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:0005753	mitochondrial proton-transporting ATP synthase complex	IEA	cellular component
GO:0005753	mitochondrial proton-transporting ATP synthase complex	IDA	cellular component
GO:0006754	ATP biosynthetic process	IEA	biological process
GO:0006754	ATP biosynthetic process	TAS	biological process
GO:0006754	ATP biosynthetic process	TAS	biological process
GO:0006810	transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0015078	hydrogen ion transmembrane transporter activity	IEA	molecular function
GO:0015986	ATP synthesis coupled proton transport	IEA	biological process
GO:0015992	proton transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0022857	transmembrane transporter activity	IC	molecular function
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0042776	mitochondrial ATP synthesis coupled proton transport	IC	biological process
GO:0042776	mitochondrial ATP synthesis coupled proton transport	TAS	biological process
GO:0045263	proton-transporting ATP synthase complex, coupling factor F(o)	IEA	cellular component
GO:0055093	response to hyperoxia	IEA	biological process
GO:0016887	ATPase activity	IDA	molecular function
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:0005753	mitochondrial proton-transporting ATP synthase complex	IDA	cellular component
GO:0006754	ATP biosynthetic process	TAS	biological process
GO:0006754	ATP biosynthetic process	TAS	biological process
GO:0022857	transmembrane transporter activity	IC	molecular function
GO:0042776	mitochondrial ATP synthesis coupled proton transport	IC	biological process
GO:0042776	mitochondrial ATP synthesis coupled proton transport	TAS	biological process
GO:0016887	ATPase activity	IDA	molecular function

KEGG pathways

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

Diseases

Associated diseases	References
Cancer	GAD: 18662401
Cancer (ovarian)	GAD: 18662401
Long QT syndrome	GAD: 19369097
Multiple sclerosis	GAD: 17619138
Diabetes	GAD: 19758471
Kearns-Sayre Syndrome	KEGG: H01355
Spinocerebellar ataxia	GAD: 19066432
Alzheimer's disease	GAD: 19758471
Cognitive function	GAD: 19449098
Premature ovarian failure (POF)	GAD: 20680310
Asthenozoospermia	MIK: 23645088
Male factor infertility	MIK: 23645088
ATP synthase deficiency	KEGG: H01369
Asthenospermia	MIK: 23645088

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
23645088	Asthenospermia	(m.9387 G>A) in COXIII	Tunisia n	166 (66 infertile men suffering from asthenospermia (n=34) in comparison to normospermic infertile men (n=32) and fertile men (n=100))	Male infertility	cytochrome oxidase I cytochrome oxidase II cytochrome oxidase III adenosine triphosphate synthase6 ATP synthase8 and cytochrome b