ATP5F1E (ATP synthase F1 subunit epsilon)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 514
Gene name ATP synthase F1 subunit epsilon
Gene symbol ATP5F1E
Synonyms (NCBI Gene)
ATP5EATPEMC5DN3
Chromosome 20
Chromosome location 20q13.32
Summary This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two lin
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (25)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 28514442, 32296183, 33961781
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IC 12110673
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606153 838 ENSG00000124172
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P56381
Protein name ATP synthase F(1) complex subunit epsilon, mitochondrial (ATPase subunit epsilon) (ATP synthase F1 subunit epsilon)
Protein function Subunit epsilon, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of th
PDB 8H9F , 8H9J , 8H9M , 8H9Q , 8H9S , 8H9T , 8H9U , 8H9V , 8KHF , 8KI3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04627 ATP-synt_Eps 3 → 50 Mitochondrial ATP synthase epsilon chain Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
Sequence length 51
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Oxidative phosphorylation
Metabolic pathways
Thermogenesis
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy 		  Formation of ATP by chemiosmotic coupling
Cristae formation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 Pathogenic rs387906929 RCV000023508
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ATP5F1E-related disorder Likely benign rs146230809, rs1601243831 RCV003956363
RCV003944036
Show/Hide Text Mining Associations (14)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 25148458
Carcinoma Basal Cell Associate 34278484
Colorectal Neoplasms Associate 36625260
COVID 19 Associate 33936072
Diabetes Mellitus Associate 39702546
Diabetic Foot Associate 39702546
Fractures Bone Associate 25148458
Lesch Nyhan Syndrome Associate 36226509
Leukemia Myelogenous Chronic BCR ABL Positive Associate 20038517
Mitochondrial Diseases Associate 34278484