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Aliases for ATP5F1E Gene

Aliases for ATP5F1E Gene

  • ATP Synthase F1 Subunit Epsilon 2 3
  • ATP Synthase, H+ Transporting, Mitochondrial F1 Complex, Epsilon Subunit 2 3 5
  • ATP5E 3 4 5
  • 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
  • MC5DN3 3
  • ATPE 3

External Ids for ATP5F1E Gene

Previous HGNC Symbols for ATP5F1E Gene

  • ATP5E

Summaries for ATP5F1E Gene

Entrez Gene Summary for ATP5F1E 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 ATP5F1E Gene

ATP5F1E (ATP Synthase F1 Subunit Epsilon) is a Protein Coding gene. Diseases associated with ATP5F1E include Mitochondrial Complex V Deficiency, Nuclear Type 3 and Isolated Atp Synthase Deficiency. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolism. An important paralog of this gene is ATP5F1EP2.

UniProtKB/Swiss-Prot for ATP5F1E 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 ATP5F1E Gene

Additional gene information for ATP5F1E Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP5F1E Gene

Genomics for ATP5F1E Gene

GeneHancer (GH) Regulatory Elements for ATP5F1E Gene

Promoters and enhancers for ATP5F1E Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20I059030 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.2 194 2.5 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 POLR2B ATP5F1E NELFCD LOC101927932 PPP4R1L STX16 ENSG00000254419 PRELID3B SLMO2-ATP5E TUBB1
GH20I059003 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 12.7 +26.3 26330 6.1 HDGF PKNOX1 SMAD1 ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF207 ZNF143 CTSZ NELFCD ATP5F1E LOC101927932 GNAS GC20M058985
GH20I058995 Enhancer 1.1 ENCODE dbSUPER 11.7 +36.3 36262 1.3 ELF3 FOXA2 MLX ARID4B RAD21 DNMT3B RARA YY1 SLC30A9 ATF7 ATP5F1E NELFCD CTSZ GC20M058985
GH20I058989 Enhancer 0.8 dbSUPER 11.8 +41.6 41608 3.3 SOX13 FOXA2 TAF1 SAP130 ARID4B MAX CEBPG ZBTB7B RAD21 YY1 NELFCD ATP5F1E PRELID3B LOC101927932 GNAS CTSZ GC20M058985
GH20I058993 Enhancer 0.8 ENCODE dbSUPER 11.7 +38.7 38651 0.1 PKNOX1 FOXA2 ZBED1 REST POLR2A NFATC1 CREB1 MLLT1 HNF4A ATP5F1E GC20M058985 NELFCD CTSZ
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ATP5F1E on UCSC Golden Path with GeneCards custom track

Genomic Locations for ATP5F1E Gene

Genomic Locations for ATP5F1E Gene
chr20:59,025,467-59,032,382
(GRCh38/hg38)
Size:
6,916 bases
Orientation:
Minus strand
chr20:57,600,522-57,607,437
(GRCh37/hg19)

Genomic View for ATP5F1E Gene

Genes around ATP5F1E on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP5F1E Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP5F1E Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP5F1E Gene

Proteins for ATP5F1E Gene

  • Protein details for ATP5F1E 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 ATP5F1E 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 ATP5F1E Gene

Post-translational modifications for ATP5F1E Gene

No Post-translational modifications

Other Protein References for ATP5F1E Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ATP5F1E Gene

Domains & Families for ATP5F1E Gene

Gene Families for ATP5F1E Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for ATP5F1E Gene

Suggested Antigen Peptide Sequences for ATP5F1E 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 ATP5F1E: view

Function for ATP5F1E Gene

Molecular function for ATP5F1E Gene

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 From GWAS Catalog for ATP5F1E Gene

Gene Ontology (GO) - Molecular Function for ATP5F1E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016787 hydrolase activity IEA --
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 --
genes like me logo Genes that share ontologies with ATP5F1E: view

Phenotypes for ATP5F1E Gene

GenomeRNAi human phenotypes for ATP5F1E:
genes like me logo Genes that share phenotypes with ATP5F1E: view

Human Phenotype Ontology for ATP5F1E Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ATP5F1E Gene

Localization for ATP5F1E Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP5F1E Gene

Mitochondrion. Mitochondrion inner membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP5F1E gene
Compartment Confidence
mitochondrion 5
nucleus 2
plasma membrane 1
extracellular 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ATP5F1E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000275 mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) IMP 20566710
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005753 mitochondrial proton-transporting ATP synthase complex IDA,TAS 12110673
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with ATP5F1E: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATP5F1E Gene

Pathways & Interactions for ATP5F1E Gene

genes like me logo Genes that share pathways with ATP5F1E: view

Gene Ontology (GO) - Biological Process for ATP5F1E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006754 ATP biosynthetic process TAS --
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0015986 ATP synthesis coupled proton transport IEA --
GO:0015992 proton transport IEA --
genes like me logo Genes that share ontologies with ATP5F1E: view

No data available for SIGNOR curated interactions for ATP5F1E Gene

Drugs & Compounds for ATP5F1E Gene

(3) ApexBio Compounds for ATP5F1E Gene

Compound Action Cas Number
BTB06584 F1F0 ATP synthases 219793-45-0
FCCP 370-86-5
Oligomycin A Mitochondrial ATP synthase Inhibitor 579-13-5
No Compound Related Data Available

Drug Products

Transcripts for ATP5F1E Gene

mRNA/cDNA for ATP5F1E Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP5F1E Gene

No ASD Table

Relevant External Links for ATP5F1E Gene

GeneLoc Exon Structure for
ATP5F1E
ECgene alternative splicing isoforms for
ATP5F1E

Expression for ATP5F1E Gene

NURSA nuclear receptor signaling pathways regulating expression of ATP5F1E Gene:

ATP5F1E

mRNA Expression by UniProt/SwissProt for ATP5F1E Gene:

P56381-ATP5E_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for ATP5F1E Gene

  • Nervous system(4.7)
  • Liver(4.5)
  • Kidney(4.4)
  • Skin(4.3)
  • Blood(2.7)
  • Heart(2.6)
  • Pancreas(2.5)
  • Muscle(2.4)
  • Spleen(2.3)
  • Lung(2.1)
  • Intestine(2)
  • Thyroid gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP5F1E Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • chin
  • ear
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • skull
Thorax:
  • heart
  • heart valve
  • lung
Abdomen:
  • liver
Pelvis:
  • penis
  • testicle
  • urethra
General:
  • peripheral nerve
  • peripheral nervous system
  • skin

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for ATP5F1E Gene

Orthologs for ATP5F1E Gene

This gene was present in the common ancestor of chordates.

Orthologs for ATP5F1E Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP5E 33 34
  • 99.35 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 96 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ATP5E 34 34
  • 94 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Atp5e 34
  • 92 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 92 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 88 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii atp5e 34
  • 65 (a)
OneToMany
Species where no ortholog for ATP5F1E was found in the sources mined by GeneCards:
  • 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 ATP5F1E Gene

ENSEMBL:
Gene Tree for ATP5F1E (if available)
TreeFam:
Gene Tree for ATP5F1E (if available)

Paralogs for ATP5F1E Gene

Paralogs for ATP5F1E Gene

Pseudogenes.org Pseudogenes for ATP5F1E Gene

genes like me logo Genes that share paralogs with ATP5F1E: view

Variants for ATP5F1E Gene

Sequence variations from dbSNP and Humsavar for ATP5F1E Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs387906929 pathogenic, Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3, Mitochondrial complex V deficiency, nuclear 3 (MC5DN3) [MIM:614053] 59,030,427(-) T/C coding_sequence_variant, missense_variant
rs369316428 likely-benign, not specified 59,032,298(-) G/A/C 5_prime_UTR_variant
rs373113507 uncertain-significance, not specified 59,032,241(-) T/G coding_sequence_variant, missense_variant
rs201907184 benign, not specified 59,032,276(-) G/A/C/T 5_prime_UTR_variant
rs374732925 benign, not specified 59,032,297(-) G/A/C/T 5_prime_UTR_variant

Variation tolerance for ATP5F1E 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)

Additional Variant Information for ATP5F1E Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP5F1E

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ATP5F1E Gene

Disorders for ATP5F1E Gene

MalaCards: The human disease database

(6) MalaCards diseases for ATP5F1E Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex v deficiency, nuclear type 3
  • mc5dn3
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
  • ls
- elite association - COSMIC cancer census association via MalaCards

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.

Additional Disease Information for ATP5F1E

genes like me logo Genes that share disorders with ATP5F1E: view

No data available for Genatlas for ATP5F1E Gene

Publications for ATP5F1E 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 (The Biochemical journal 2000) 2 3 4 58
  2. Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit. (PMID: 20566710) Mayr JA … Houstek J (Human molecular genetics 2010) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 58
  5. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PMID: 10931946) Hu RM … Chen JL (Proceedings of the National Academy of Sciences of the United States of America 2000) 3 4 58

Products for ATP5F1E Gene

Sources for ATP5F1E Gene

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