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Aliases for ATP5E Gene

Aliases for ATP5E Gene

  • ATP Synthase, H+ Transporting, Mitochondrial F1 Complex, Epsilon Subunit 2 3 5
  • Mitochondrial ATP Synthase Epsilon Chain 3
  • H(+)-Transporting Two-Sector ATPase 3
  • ATPase Subunit Epsilon 4
  • Mitochondrial ATPase 3
  • F(0)F(1)-ATPase 3
  • MC5DN3 3
  • ATPE 3

External Ids for ATP5E Gene

Previous GeneCards Identifiers for ATP5E Gene

  • GC20M057332
  • GC20M058239
  • GC20M058289
  • GC20M057037
  • GC20M057600
  • GC20M054390

Summaries for ATP5E Gene

Entrez Gene Summary for ATP5E 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 linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the epsilon subunit of the catalytic core. Two pseudogenes of this gene are located on chromosomes 4 and 13. Read-through transcripts that include exons from this gene are expressed from the upstream gene SLMO2.[provided by RefSeq, Mar 2011]

GeneCards Summary for ATP5E Gene

ATP5E (ATP Synthase, H+ Transporting, Mitochondrial F1 Complex, Epsilon Subunit) is a Protein Coding gene. Diseases associated with ATP5E include mitochondrial complex iii deficiency, nuclear type 5 and isolated atp synthase deficiency. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include ATPase activity and proton-transporting ATPase activity, rotational mechanism. An important paralog of this gene is ATP5EP2.

UniProtKB/Swiss-Prot for ATP5E Gene

  • Mitochondrial membrane ATP synthase (F(1)F(0) 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, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(1) domain and of the central stalk which is part of the complex rotary element. Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits (By similarity).

Gene Wiki entry for ATP5E Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP5E Gene

Genomics for ATP5E Gene

Regulatory Elements for ATP5E Gene

Promoters for ATP5E Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ATP5E on UCSC Golden Path with GeneCards custom track

Genomic Location for ATP5E Gene

Chromosome:
20
Start:
59,025,467 bp from pter
End:
59,032,382 bp from pter
Size:
6,916 bases
Orientation:
Minus strand

Genomic View for ATP5E Gene

Genes around ATP5E on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP5E Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP5E Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP5E Gene

Proteins for ATP5E Gene

  • Protein details for ATP5E Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P56381-ATP5E_HUMAN
    Recommended name:
    ATP synthase subunit epsilon, mitochondrial
    Protein Accession:
    P56381
    Secondary Accessions:
    • B2RDD0
    • E1P5H6
    • Q53XU6

    Protein attributes for ATP5E Gene

    Size:
    51 amino acids
    Molecular mass:
    5780 Da
    Quaternary structure:
    • F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(1) has five subunits: alpha(3), beta(3), gamma(1), delta(1), epsilon(1). CF(0) 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).

neXtProt entry for ATP5E Gene

Proteomics data for ATP5E Gene at MOPED

Post-translational modifications for ATP5E Gene

  • Ubiquitination at Lys 21
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP5E Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ATP5E Gene

Domains & Families for ATP5E Gene

Protein Domains for ATP5E Gene

Suggested Antigen Peptide Sequences for ATP5E Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P56381

UniProtKB/Swiss-Prot:

ATP5E_HUMAN :
  • Belongs to the eukaryotic ATPase epsilon family.
Family:
  • Belongs to the eukaryotic ATPase epsilon family.
genes like me logo Genes that share domains with ATP5E: view

Function for ATP5E Gene

Molecular function for ATP5E Gene

GENATLAS Biochemistry:
ATP synthase H+ transporting,mitochondrial matrix (F1 segment) subunit 5,epsilon subunit,complex V of oxidative phosphorylation (OXPHOS)
UniProtKB/Swiss-Prot Function:
Mitochondrial membrane ATP synthase (F(1)F(0) 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, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(1) domain and of the central stalk which is part of the complex rotary element. Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits (By similarity).

Phenotypes for ATP5E Gene

GenomeRNAi human phenotypes for ATP5E:
genes like me logo Genes that share phenotypes with ATP5E: view

Human Phenotype Ontology for ATP5E Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP5E Gene

Localization for ATP5E Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP5E Gene

Mitochondrion. Mitochondrion inner membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP5E Gene COMPARTMENTS Subcellular localization image for ATP5E gene
Compartment Confidence
mitochondrion 5
chloroplast 2
nucleus 2
cytosol 1
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ATP5E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with ATP5E: view

Pathways & Interactions for ATP5E Gene

genes like me logo Genes that share pathways with ATP5E: view

Interacting Proteins for ATP5E Gene

Gene Ontology (GO) - Biological Process for ATP5E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015986 ATP synthesis coupled proton transport IEA --
GO:0044237 cellular metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with ATP5E: view

No data available for SIGNOR curated interactions for ATP5E Gene

Drugs & Compounds for ATP5E Gene

(5) Drugs for ATP5E Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0

(9) Additional Compounds for ATP5E Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with ATP5E: view

Transcripts for ATP5E Gene

mRNA/cDNA for ATP5E Gene

Unigene Clusters for ATP5E Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ATP5E Gene

No ASD Table

Relevant External Links for ATP5E Gene

GeneLoc Exon Structure for
ATP5E
ECgene alternative splicing isoforms for
ATP5E

Expression for ATP5E Gene

mRNA expression in normal human tissues for ATP5E Gene

Protein differential expression in normal tissues from HIPED for ATP5E Gene

This gene is overexpressed in Stomach (49.1) and Heart (10.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATP5E Gene



SOURCE GeneReport for Unigene cluster for ATP5E Gene Hs.177530

mRNA Expression by UniProt/SwissProt for ATP5E Gene

P56381-ATP5E_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with ATP5E: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for ATP5E Gene

Orthologs for ATP5E Gene

This gene was present in the common ancestor of chordates.

Orthologs for ATP5E Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP5E 35
  • 99.35 (n)
  • 98.04 (a)
ATP5E 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATP5E 36
  • 94 (a)
ManyToMany
ATP5E 36
  • 94 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 96 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Atp5e 36
  • 92 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 92 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 88 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii atp5e 36
  • 65 (a)
OneToMany
Species with no ortholog for ATP5E:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ATP5E Gene

ENSEMBL:
Gene Tree for ATP5E (if available)
TreeFam:
Gene Tree for ATP5E (if available)

Paralogs for ATP5E Gene

Paralogs for ATP5E Gene

(1) SIMAP similar genes for ATP5E Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for ATP5E Gene

genes like me logo Genes that share paralogs with ATP5E: view

Variants for ATP5E Gene

Sequence variations from dbSNP and Humsavar for ATP5E Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
VAR_066211 Mitochondrial complex V deficiency, nuclear 3 (MC5DN3)

Variation tolerance for ATP5E Gene

Residual Variation Intolerance Score: 65.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.33; 7.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP5E Gene

HapMap Linkage Disequilibrium report
ATP5E
Human Gene Mutation Database (HGMD)
ATP5E

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ATP5E Gene

Disorders for ATP5E Gene

MalaCards: The human disease database

(5) MalaCards diseases for ATP5E Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex iii deficiency, nuclear type 5
  • mitochondrial complex v deficiency, nuclear type 3
isolated atp synthase deficiency
  • isolated mitochondrial respiratory chain complex v deficiency
mitochondrial complex v deficiency
  • complex 5 mitochondrial respiratory chain deficiency
adult neuronal ceroid lipofuscinosis
  • adult ncl
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
- elite association - COSMIC cancer census association via MalaCards
Search ATP5E in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ATP5E_HUMAN
  • Mitochondrial complex V deficiency, nuclear 3 (MC5DN3) [MIM:614053]: A 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. {ECO:0000269 PubMed:20566710}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ATP5E

Genetic Association Database (GAD)
ATP5E
Human Genome Epidemiology (HuGE) Navigator
ATP5E
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP5E
genes like me logo Genes that share disorders with ATP5E: view

No data available for Genatlas for ATP5E Gene

Publications for ATP5E Gene

  1. Cloning, characterization and mapping of the human ATP5E gene, identification of pseudogene ATP5EP1, and definition of the ATP5E motif. (PMID: 10727396) Tu Q. … Zhao S. (Biochem. J. 2000) 2 3 4 67
  2. Integrative analysis of kinase networks in TRAIL-induced apoptosis provides a source of potential targets for combination therapy. (PMID: 25852190) So J. … Colwill K. (Sci Signal 2015) 3
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  4. Cell surface F1/FO ATP synthase contributes to interstitial flow-mediated development of the acidic microenvironment in tumor tissues. (PMID: 24067918) Kawai Y. … Ohhashi T. (Am. J. Physiol., Cell Physiol. 2013) 3
  5. Toward an understanding of the protein interaction network of the human liver. (PMID: 21988832) Wang J. … Yang X. (Mol. Syst. Biol. 2011) 3

Products for ATP5E Gene

Sources for ATP5E Gene

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