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Aliases for ATP5E Gene

Aliases for ATP5E Gene

  • ATP Synthase, H+ Transporting, Mitochondrial F1 Complex, Epsilon Subunit 2 3
  • MC5DN3 3 6
  • ATP Synthase Subunit Epsilon, Mitochondrial 3
  • 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
  • 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 Metabolism. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ATP5E Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Lys21
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP5E Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for ATP5E Gene

Domains for ATP5E Gene

Gene Families for ATP5E Gene

HGNC:
  • F1ATP :ATPases / F-type
  • FATP :Mitochondrial respiratory chain complex / Complex V
IUPHAR :

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 :
  • P56381
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).

Gene Ontology (GO) - Molecular Function for ATP5E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016887 contributes_to ATPase activity IDA 12110673
GO:0022857 transmembrane transporter activity IC 12110673
GO:0046933 proton-transporting ATP synthase activity, rotational mechanism IEA --
GO:0046961 proton-transporting ATPase activity, rotational mechanism IEA --
genes like me logo Genes that share ontologies with ATP5E: view

Animal Model Products

miRNA for ATP5E Gene

miRTarBase miRNAs that target ATP5E

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP5E

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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 3
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:0000275 mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) IMP 20566710
GO:0005753 mitochondrial proton-transporting ATP synthase complex IDA 12110673
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with ATP5E: view

Pathways 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:0006200 obsolete ATP catabolic process --
GO:0015986 ATP synthesis coupled proton transport --
GO:0022904 respiratory electron transport chain TAS --
GO:0042776 mitochondrial ATP synthesis coupled proton transport TAS --
GO:0044237 cellular metabolic process TAS --
genes like me logo Genes that share ontologies with ATP5E: view

Compounds for ATP5E Gene

(4) HMDB Compounds for ATP5E Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Phosphate
  • NFB Orthophosphate
14265-44-2
Water
  • Dihydrogen oxide
7732-18-5

(10) Novoseek inferred chemical compound relationships for ATP5E Gene

Compound -log(P) Hits PubMed IDs
oligomycin 81.8 9
atp 63.3 12
rotenone 61.9 2
fccp 59.7 1
cdp choline 53.9 2
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP5E

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

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 for ATP5E Gene

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

Integrated Proteomics: protein expression 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 expressions with ATP5E: view

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 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
mouse
(Mus musculus)
Mammalia Atp5e 16
Atp5e 36
  • 92 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ATP5E 36
  • 94 (a)
ManyToMany
ATP5E 36
  • 94 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 96 (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

Selected 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 MAF
VAR_066211 Mitochondrial complex V deficiency, nuclear 3 (MC5DN3)

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

(1) OMIM Diseases for ATP5E Gene (606153)

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.

(5) Novoseek inferred disease relationships for ATP5E Gene

Disease -log(P) Hits PubMed IDs
leigh syndrome 53.7 1
mitochondrial diseases 47.5 1
cerebral edema 34.5 2
ischemia 4.45 1
cancer 0 1

Relevant External Links for ATP5E

Genetic Association Database (GAD)
ATP5E
Human Genome Epidemiology (HuGE) Navigator
ATP5E
genes like me logo Genes that share disorders with ATP5E: view

No data available for University of Copenhagen DISEASES and 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
  2. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PMID: 10931946) Hu R.-M. … Chen J.-L. (Proc. Natl. Acad. Sci. U.S.A. 2000) 3 4
  3. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit. (PMID: 20566710) Mayr J.A. … Houstek J. (Hum. Mol. Genet. 2010) 3 4

Products for ATP5E Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate ATP5E
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat
  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP5E
  • Block miRNA regulation of ATP5E using miScript Target Protectors

Sources for ATP5E Gene

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