Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
514
Gene name Gene Name - the full gene name approved by the HGNC.
ATP synthase F1 subunit epsilon
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ATP5F1E
Synonyms (NCBI Gene) Gene synonyms aliases
ATP5E, ATPE, MC5DN3
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MC5DN3
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q13.32
Summary Summary of gene provided in NCBI Entrez Gene.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000275 Component Mitochondrial proton-transporting ATP synthase complex, catalytic sector F(1) IMP 20566710
GO:0005515 Function Protein binding IPI 28514442, 32296183
GO:0005743 Component Mitochondrial inner membrane IBA 21873635
GO:0005753 Component Mitochondrial proton-transporting ATP synthase complex IDA 12110673
GO:0005759 Component Mitochondrial matrix TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606153 838 ENSG00000124172
Protein
UniProt ID 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.
  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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Hypertrophic cardiomyopathy Hypertrophic Cardiomyopathy rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377
View all (752 more)
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Mitochondrial complex deficiency MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 rs267606829, rs267606830, rs587776513, rs121918134, rs121918135, rs121918136, rs137853192, rs137853193, rs183973249, rs137853184, rs118203929, rs267606689, rs11544803, rs63751061, rs137852863
View all (210 more)
25954304, 27604308, 20566710
Unknown
Disease term Disease name Evidence References Source
Mitochondrial Complex Deficiency mitochondrial complex V (ATP synthase) deficiency nuclear type 3 GenCC
Diabetes Diabetes GWAS
Associations from Text Mining
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