Gene table of MT-ATP6 : mitochondrially encoded ATP synthase 6

Gene-disease associations table

Disease IDDisease nameSource of annotation with MT-ATP6OMIM linkNumber of associated genesgenes
500003STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIALOMIM, HUMSAVAR link to OMIM 1MT-ATP6
256000LEIGH SYNDROMEHUMSAVAR link to OMIM 27MT-ND5, NDUFAF2, NDUFA12, NDUFAF6, NDUFV1, NDUFA10, MTFMT, NDUFS8, BCS1L, SDHA, MT-CO3, COX10, NDUFA2, ECHS1, NDUFS3, MT-ATP6, FOXRED1, MT-ND3, IARS2, NARS2, NDUFS7, COX15, NDUFAF5, POLG, SURF1, NDUFS4, NDUFA9
500011MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3OMIM, HUMSAVAR link to OMIM 1MT-ATP6
535000LEBER OPTIC ATROPHYHUMSAVAR link to OMIM 9MT-ND5, MT-ATP6, MT-CO3, MT-ND4, MT-ND1, MT-CYB, MT-ND6, MT-ND4L, MT-ND2
551500NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSAOMIM, HUMSAVAR link to OMIM 1MT-ATP6

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Annotation of the gene MT-ATP6

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Huntington's diseasehsa050165.17
Metabolic pathwayshsa011002.49
Alzheimer's diseasehsa050105.34
Parkinson's diseasehsa050125.59
Oxidative phosphorylationhsa001905.69
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
MetabolismR-HSA-14307282.34
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.R-HSA-1632006.12
The citric acid (TCA) cycle and respiratory electron transportR-HSA-14285175.71
Formation of ATP by chemiosmotic couplingR-HSA-1632108.81
Associated GO terms for Molecular function
GO termGO IDGO IC
substrate-specific transmembrane transporter activityGO:00228912.9
hydrolase activityGO:00167871.9
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydridesGO:00168183.03
substrate-specific transporter activityGO:00228922.72
transmembrane transporter activityGO:00228572.82
inorganic cation transmembrane transporter activityGO:00228903.49
transporter activityGO:00052152.57
cation transmembrane transporter activityGO:00083243.32
nucleoside-triphosphatase activityGO:00171113.09
hydrolase activity, acting on acid anhydridesGO:00168173.03
ion transmembrane transporter activityGO:00150753.04
catalytic activityGO:00038241.05
monovalent inorganic cation transmembrane transporter activityGO:00150773.87
ATPase activityGO:00168873.65
pyrophosphatase activityGO:00164623.04
hydrogen ion transmembrane transporter activityGO:00150785.01