• Gene id: 4508

Gene Summary

• Gene Symbol: ATP6   Gene   UCSC   Ensembl
• Aliases: ATPase6, MTATP6
• Gene name: mitochondrially encoded ATP synthase 6
• OMIM: 0

Protein Summary

• Protein general information: P00846  
  • Name: ATP synthase subunit a (F ATPase protein 6)
  • Length: 226  
  • Mass: 24,817
• Sequence:

  MNENLFASFIAPTILGLPAAVLIILFPPLLIPTSKYLINNRLITTQQWLIKLTSKQMMTMHNTKGRTWSLMLVSL
  IIFIATTNLLGLLPHSFTPTTQLSMNLAMAIPLWAGTVIMGFRSKIKNALAHFLPQGTPTPLIPMLVIIETISLL
  IQPMALAVRLTANITAGHLLMHLIGSATLAMSTINLPSTLIIFTILILLTILEIAVALIQAYVFTLLVSLYLHDN
  T

• Structural information:
  • Interpro: IPR000568  IPR023011  IPR035908  
  • Prosite: PS00449
  • STRING: ENSP00000354632
• Other Databases: GeneCards:  ATP6  Malacards:  ATP6

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0007568	aging	IEA	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:0045263	proton-transporting ATP synthase complex, coupling factor F(o)	IEA	cellular component
GO:0055093	response to hyperoxia	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0016887	ATPase activity	IDA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005743	mitochondrial inner 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: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:0007568	aging	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: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:0070062	extracellular exosome	IDA	cellular component
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:0070062	extracellular exosome	IDA	cellular component
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: 19050702
Cancer (colorectal)	GAD: 19050702
Cancer (ovarian)	GAD: 18662401
Cancer (prostate)	GAD: 21129724
Cancer (glaucoma)	GAD: 16604388
Long QT syndrome	GAD: 19369097
Infantile bilateral striatal necrosis	KEGG: H01177
Optic atrophy	GAD: 19026397
Multiple sclerosis	GAD: 17619138
Diabetes	GAD: 19758471
Kearns-Sayre Syndrome	KEGG: H01355
Spinocerebellar ataxia	GAD: 19066432
Leber hereditary optic atrophy	KEGG: H00068
Alzheimer's disease	GAD: 19758471
Parkinson disease	GAD: 15931342
Ataxia	GAD: 17300808
Cognitive function	GAD: 19449098
Schizophrenia	GAD: 19563917
Asthenozoospermia	GAD: 18481423
Premature ovarian failure (POF)	GAD: 20680310
Premature ovarian insufficiency (POI)	INFBASE: 21165743
Female infertility	INFBASE: 20361200
Asthenozoospermia	MIK: 18481423
Immature spermatids	MIK: 10643508
NARP syndrome	KEGG: H01363
ATP synthase deficiency	KEGG: H01369
Asthenospermia	MIK: 23645088
Asthenospermia	MIK: 18481423
Immature spermatids	MIK: 10643508
Teratozoospermia	MIK: 17327269

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
18481423	Asthenospermia	MTATP6 (G8887A)		100 (80 semen samples of asthenospermia, 20 of normal sperm motility)	Male infertility	MTCYB MTATP6
10643508	Immature spermatids			119 (88 fertile men, 19 with oligozoospermia, and 12 with severe oligozoospermia)	Male infertility	ATPase6
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)