Gene table of ATP5E : ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ATP5E	OMIM link	Number of associated genes	genes
614053	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	ATP5E

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Annotation of the gene ATP5E

Associated genes in ENSEMBL

ENSG00000124172

Associated proteins - SwissProt Accession ID

P56381

Associated PDB IDs

Cytogenetic Band

20q13.32

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Huntington's disease	hsa05016	5.17
Metabolic pathways	hsa01100	2.49
Alzheimer's disease	hsa05010	5.34
Parkinson's disease	hsa05012	5.59
Oxidative phosphorylation	hsa00190	5.69

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Metabolism	R-HSA-1430728	2.34
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.	R-HSA-163200	6.12
The citric acid (TCA) cycle and respiratory electron transport	R-HSA-1428517	5.71
Formation of ATP by chemiosmotic coupling	R-HSA-163210	8.81

Associated GO terms for Molecular function

GO term	GO ID	GO IC
hydrogen-exporting ATPase activity	GO:0036442	6.44
ATPase activity	GO:0016887	3.65
ATPase coupled ion transmembrane transporter activity	GO:0042625	5.46
ATPase activity, coupled to transmembrane movement of substances	GO:0042626	5.06
hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances	GO:0016820	5.03
proton-transporting ATP synthase activity, rotational mechanism	GO:0046933	7.25
monovalent inorganic cation transmembrane transporter activity	GO:0015077	3.87
primary active transmembrane transporter activity	GO:0015399	4.98
active transmembrane transporter activity	GO:0022804	3.85
hydrolase activity	GO:0016787	1.9
transporter activity	GO:0005215	2.57
cation transmembrane transporter activity	GO:0008324	3.32
nucleoside-triphosphatase activity	GO:0017111	3.09
P-P-bond-hydrolysis-driven transmembrane transporter activity	GO:0015405	4.98
catalytic activity	GO:0003824	1.05
proton-transporting ATPase activity, rotational mechanism	GO:0046961	6.6
ATPase activity, coupled to transmembrane movement of ions, rotational mechanism	GO:0044769	6.48
substrate-specific transmembrane transporter activity	GO:0022891	2.9
inorganic cation transmembrane transporter activity	GO:0022890	3.49
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
substrate-specific transporter activity	GO:0022892	2.72
ATPase activity, coupled to movement of substances	GO:0043492	4.93
ATPase activity, coupled	GO:0042623	3.97
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
cation-transporting ATPase activity	GO:0019829	5.64
ion transmembrane transporter activity	GO:0015075	3.04
pyrophosphatase activity	GO:0016462	3.04
transmembrane transporter activity	GO:0022857	2.82
active ion transmembrane transporter activity	GO:0022853	5.06
hydrogen ion transmembrane transporter activity	GO:0015078	5.01