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Protein

ATP synthase subunit epsilon, mitochondrial

Gene

ATP5E

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-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, mitochondrial
Short name:
ATPase subunit epsilon
Gene namesi
Name:ATP5E
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000124172.9.
HGNCiHGNC:838. ATP5E.

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:rs387906929Ensembl.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi514.
MalaCardsiATP5E.
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.
TopDownProteomicsiP56381.

PTM databases

iPTMnetiP56381.
PhosphoSitePlusiP56381.

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000124172.
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 ATP5F1, ATP5G1, ATP5E, ATP5H, ATP5I, ATP5J, ATP5J2, MT-ATP6, MT-ATP8, ATP5A1, ATP5B, ATP5D, ATP5C1, ATP5O, ATP5L, USMG5 and MP68 (By similarity).By similarity

Protein-protein interaction databases

BioGridi106999. 38 interactors.
CORUMiP56381.
IntActiP56381. 7 interactors.
MINTiMINT-3021407.
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:rs387906929Ensembl.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

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: November 22, 2017
This is version 158 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. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families