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MT-ATP8 (Mitochondrially Encoded ATP Synthase Membrane Subunit 8) is a Protein Coding gene. Diseases associated with MT-ATP8 include Cardiomyopathy, Infantile Hypertrophic and Periodic Paralysis With Later-Onset Distal Motor Neuropathy. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Parkinson disease. Gene Ontology (GO) annotations related to this gene include ATPase activity and proton transmembrane transporter activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
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GO:0015078 | proton transmembrane transporter activity | IEA | -- |
GO:0046933 | contributes_to proton-transporting ATP synthase activity, rotational mechanism | IDA | 12110673 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000276 | mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) | IEA | -- |
GO:0005739 | mitochondrion | IEA | -- |
GO:0005743 | mitochondrial inner membrane | TAS | -- |
GO:0005753 | mitochondrial proton-transporting ATP synthase complex | IBA,IDA | 12110673 |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
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1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. |
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2 | Parkinson disease | ||
3 | purine nucleotides de novo biosynthesis | ||
4 | Metabolism |
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006754 | ATP biosynthetic process | TAS | -- |
GO:0006811 | ion transport | IEA | -- |
GO:0015986 | ATP synthesis coupled proton transport | IEA | -- |
GO:0042407 | cristae formation | TAS | -- |
GO:0042776 | mitochondrial ATP synthesis coupled proton transport | TAS | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
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ADP |
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Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
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Phosphate |
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14066-19-4, 14265-44-2 |
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This gene was present in the common ancestor of human and chimp.
Organism | Taxonomy | Gene | Similarity | Type | Details |
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Chimpanzee (Pan troglodytes) |
Mammalia | MT-ATP8 31 |
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OneToOne | |
ATP8 30 |
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SNP ID | Clinical significance and condition | Chr MT pos | Variation | AA Info | Type |
---|---|---|---|---|---|
430677 | Pathogenic: Mitochondrial diseases | 7,729(+) | AAAACTAACTAATACT | INITIATIOR_CODON_VARIANT,FRAMESHIFT_VARIANT | |
692833 | Uncertain Significance: Leigh syndrome | 8,369(+) | C/T | MISSENSE_VARIANT | |
692834 | Uncertain Significance: Leigh syndrome | 8,373(+) | A/G | MISSENSE_VARIANT | |
692835 | Uncertain Significance: Leigh syndrome | 8,373(+) | A/T | MISSENSE_VARIANT | |
692836 | Uncertain Significance: Leigh syndrome | 8,379(+) | A/G | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
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cardiomyopathy, infantile hypertrophic |
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periodic paralysis with later-onset distal motor neuropathy |
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aortic valve disease 1 |
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isolated atp synthase deficiency |
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kearns-sayre syndrome |
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