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Protein

ATP synthase subunit epsilon, mitochondrial

Gene

ATP5F1E

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Mitochondrial membrane ATP synthase (F1F0 ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F1 - containing the extramembraneous catalytic core, and F0 - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F1 is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F1 domain and of the central stalk which is part of the complex rotary element. Rotation of the central stalk against the surrounding alpha3beta3 subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits (By similarity).By similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionHydrolase
Biological processATP synthesis, Hydrogen ion transport, Ion transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-163210 Formation of ATP by chemiosmotic coupling
R-HSA-8949613 Cristae formation

Names & Taxonomyi

Protein namesi
Recommended name:
ATP synthase subunit epsilon, mitochondrialCurated
Short name:
ATPase subunit epsilon
Alternative name(s):
ATP synthase F1 subunit epsilonImported
Gene namesi
Name:ATP5F1EImported
Synonyms:ATP5EImported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000124172.9
HGNCiHGNC:838 ATP5F1E
MIMi606153 gene
neXtProtiNX_P56381

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

CF(1), Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Mitochondrial complex V deficiency, nuclear 3 (MC5DN3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid.
See also OMIM:614053
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06621112Y → C in MC5DN3. 1 PublicationCorresponds to variant dbSNP:rs387906929EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi514
MalaCardsiATP5F1E
MIMi614053 phenotype
OpenTargetsiENSG00000124172
Orphaneti254913 Isolated ATP synthase deficiency
PharmGKBiPA25128

Polymorphism and mutation databases

BioMutaiATP5E

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000716621 – 51ATP synthase subunit epsilon, mitochondrialAdd BLAST51

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei21N6-acetyllysine; alternateCombined sources1
Modified residuei21N6-succinyllysine; alternateBy similarity1
Modified residuei32N6-acetyllysine; alternateBy similarity1
Modified residuei32N6-succinyllysine; alternateBy similarity1
Modified residuei37N6-acetyllysine; alternateBy similarity1
Modified residuei37N6-succinyllysine; alternateBy similarity1
Modified residuei44N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiP56381
MaxQBiP56381
PaxDbiP56381
PeptideAtlasiP56381
PRIDEiP56381
ProteomicsDBi56917
TopDownProteomicsiP56381

PTM databases

iPTMnetiP56381
PhosphoSitePlusiP56381

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000124172 Expressed in 243 organ(s), highest expression level in testis
CleanExiHS_ATP5E
GenevisibleiP56381 HS

Interactioni

Subunit structurei

F-type ATPases have 2 components, CF1 - the catalytic core - and CF0 - the membrane proton channel. CF1 has five subunits: alpha3, beta3, gamma1, delta1, epsilon1. CF0 seems to have nine subunits: a, b, c, d, e, f, g, F6 and 8 (or A6L). Component of an ATP synthase complex composed of ATP5PB, ATP5MC1, ATP5F1E, ATP5PD, ATP5ME, ATP5PF, ATP5MF, MT-ATP6, MT-ATP8, ATP5F1A, ATP5F1B, ATP5F1D, ATP5F1C, ATP5PO, ATP5MG, ATP5MD and MP68 (By similarity).By similarity

Protein-protein interaction databases

BioGridi106999, 39 interactors
CORUMiP56381
IntActiP56381, 9 interactors
STRINGi9606.ENSP00000243997

Structurei

3D structure databases

ProteinModelPortaliP56381
SMRiP56381
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the eukaryotic ATPase epsilon family.Curated

Phylogenomic databases

eggNOGiKOG3495 Eukaryota
ENOG410Y5P5 LUCA
GeneTreeiENSGT00390000015470
HOGENOMiHOG000214506
HOVERGENiHBG050611
InParanoidiP56381
KOiK02135
OMAiRFSKWEN
OrthoDBiEOG091G16RI
PhylomeDBiP56381
TreeFamiTF300278

Family and domain databases

CDDicd12153 F1-ATPase_epsilon, 1 hit
Gene3Di1.10.1620.20, 1 hit
InterProiView protein in InterPro
IPR006721 ATP_synth_F1_esu_mt
IPR036742 ATP_synth_F1_esu_sf_mt
PANTHERiPTHR12448 PTHR12448, 1 hit
PfamiView protein in Pfam
PF04627 ATP-synt_Eps, 1 hit
SUPFAMiSSF48690 SSF48690, 1 hit

Sequencei

Sequence statusi: Complete.

P56381-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MVAYWRQAGL SYIRYSQICA KAVRDALKTE FKANAEKTSG SNVKIVKVKK

E
Length:51
Mass (Da):5,780
Last modified:January 23, 2007 - v2
Checksum:iC3E8FDA7C9191CA4
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06621112Y → C in MC5DN3. 1 PublicationCorresponds to variant dbSNP:rs387906929EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF052955 mRNA Translation: AAF72736.1
AF077045 mRNA Translation: AAD27778.1
AK315493 mRNA Translation: BAG37877.1
BT007293 mRNA Translation: AAP35957.1
AL109840 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW75445.1
CH471077 Genomic DNA Translation: EAW75446.1
BC001690 mRNA Translation: AAH01690.1
BC003671 mRNA Translation: AAH03671.1
BC105811 mRNA Translation: AAI05812.1
CCDSiCCDS13476.1
RefSeqiNP_008817.1, NM_006886.3
UniGeneiHs.177530

Genome annotation databases

EnsembliENST00000243997; ENSP00000243997; ENSG00000124172
ENST00000395659; ENSP00000379019; ENSG00000124172
ENST00000395663; ENSP00000379023; ENSG00000124172
GeneIDi514
KEGGihsa:514
UCSCiuc002yal.4 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF052955 mRNA Translation: AAF72736.1
AF077045 mRNA Translation: AAD27778.1
AK315493 mRNA Translation: BAG37877.1
BT007293 mRNA Translation: AAP35957.1
AL109840 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW75445.1
CH471077 Genomic DNA Translation: EAW75446.1
BC001690 mRNA Translation: AAH01690.1
BC003671 mRNA Translation: AAH03671.1
BC105811 mRNA Translation: AAI05812.1
CCDSiCCDS13476.1
RefSeqiNP_008817.1, NM_006886.3
UniGeneiHs.177530

3D structure databases

ProteinModelPortaliP56381
SMRiP56381
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106999, 39 interactors
CORUMiP56381
IntActiP56381, 9 interactors
STRINGi9606.ENSP00000243997

PTM databases

iPTMnetiP56381
PhosphoSitePlusiP56381

Polymorphism and mutation databases

BioMutaiATP5E

Proteomic databases

EPDiP56381
MaxQBiP56381
PaxDbiP56381
PeptideAtlasiP56381
PRIDEiP56381
ProteomicsDBi56917
TopDownProteomicsiP56381

Protocols and materials databases

DNASUi514
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000243997; ENSP00000243997; ENSG00000124172
ENST00000395659; ENSP00000379019; ENSG00000124172
ENST00000395663; ENSP00000379023; ENSG00000124172
GeneIDi514
KEGGihsa:514
UCSCiuc002yal.4 human

Organism-specific databases

CTDi514
DisGeNETi514
EuPathDBiHostDB:ENSG00000124172.9
GeneCardsiATP5F1E
HGNCiHGNC:838 ATP5F1E
MalaCardsiATP5F1E
MIMi606153 gene
614053 phenotype
neXtProtiNX_P56381
OpenTargetsiENSG00000124172
Orphaneti254913 Isolated ATP synthase deficiency
PharmGKBiPA25128
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3495 Eukaryota
ENOG410Y5P5 LUCA
GeneTreeiENSGT00390000015470
HOGENOMiHOG000214506
HOVERGENiHBG050611
InParanoidiP56381
KOiK02135
OMAiRFSKWEN
OrthoDBiEOG091G16RI
PhylomeDBiP56381
TreeFamiTF300278

Enzyme and pathway databases

ReactomeiR-HSA-163210 Formation of ATP by chemiosmotic coupling
R-HSA-8949613 Cristae formation

Miscellaneous databases

ChiTaRSiATP5E human
GeneWikiiATP5E
GenomeRNAii514
PROiPR:P56381
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000124172 Expressed in 243 organ(s), highest expression level in testis
CleanExiHS_ATP5E
GenevisibleiP56381 HS

Family and domain databases

CDDicd12153 F1-ATPase_epsilon, 1 hit
Gene3Di1.10.1620.20, 1 hit
InterProiView protein in InterPro
IPR006721 ATP_synth_F1_esu_mt
IPR036742 ATP_synth_F1_esu_sf_mt
PANTHERiPTHR12448 PTHR12448, 1 hit
PfamiView protein in Pfam
PF04627 ATP-synt_Eps, 1 hit
SUPFAMiSSF48690 SSF48690, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiATP5E_HUMAN
AccessioniPrimary (citable) accession number: P56381
Secondary accession number(s): B2RDD0, E1P5H6, Q53XU6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: January 23, 2007
Last modified: October 10, 2018
This is version 166 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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