Aliases for ATP5F1E Gene
Aliases for ATP5F1E Gene
External Ids for ATP5F1E Gene
- HGNC: 838
- Entrez Gene: 514
- Ensembl: ENSG00000124172
- OMIM: 606153
- UniProtKB: P56381
Previous HGNC Symbols for ATP5F1E Gene
- ATP5E
Summaries 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).
Additional gene information for ATP5F1E Gene
- Monarch Initiative
- Search for ATP5F1E at DataMed
- Search for ATP5F1E at HumanCyc
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
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around ATP5F1E on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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:
-
- 20q13.32 by Ensembl
- 20q13.32 by Entrez Gene
- 20q13.32 by HGNC
ATP5F1E Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Post-translational modifications for ATP5F1E Gene
No Post-translational modifications
Other Protein References for ATP5F1E Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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-
Abcam proteins for ATP5F1E
Assay Products
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
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for ATP5F1E Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P56381- Family:
-
- Belongs to the eukaryotic ATPase epsilon family.
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
| 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 | -- |
Phenotypes for ATP5F1E Gene
- GenomeRNAi human phenotypes for ATP5F1E:
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- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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Cell Line Products
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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.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytosol | 1 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATP5F1E Gene
Pathways & Interactions for ATP5F1E Gene
Pathways by source for ATP5F1E Gene
2 BioSystems pathways for ATP5F1E Gene
1 PharmGKB pathway for ATP5F1E Gene
5 KEGG pathways for ATP5F1E Gene
Interacting Proteins 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 | -- |
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
Transcripts for ATP5F1E Gene
mRNA/cDNA for ATP5F1E Gene
- (1) REFSEQ mRNAs :
- (926) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for ATP5F1E
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-
Vectors and viruses for KO, Activation, Repression, and more
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miRNA Products
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Inhibitory RNA Products
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- genomics-online: shRNA clones - Search results for available ATP5E gene related products
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Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for ATP5F1E
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available ATP5E gene related products
- orf clones - Search results for available ATP5E gene related products
- Applied Biological Materials Clones for ATP5F1E
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for ATP5F1E Gene
NURSA nuclear receptor signaling pathways regulating expression of ATP5F1E Gene:
ATP5F1EmRNA 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
-
OriGene qPCR primer pairs for ATP5F1E
-
OriGene qPCR primer pairs and template standards for ATP5F1E
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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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ATP5E 33 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| cow (Bos Taurus) |
Mammalia | ATP5E 34 34 |
|
ManyToMany | |
| mouse (Mus musculus) |
Mammalia | Atp5e 34 |
|
OneToMany | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| zebrafish (Danio rerio) |
Actinopterygii | atp5e 34 |
|
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)
Paralogs for ATP5F1E Gene
Pseudogenes.org Pseudogenes for ATP5F1E Gene
Variants 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 |
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
(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 |
|
|
| isolated atp synthase deficiency |
|
|
| mitochondrial complex v deficiency |
|
|
| adult neuronal ceroid lipofuscinosis |
|
|
| leigh syndrome |
|
Search ATP5F1E 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.
Additional Disease Information for ATP5F1E
No data available for Genatlas for ATP5F1E Gene
Publications for ATP5F1E Gene
- 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
- 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
- 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
- The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 58
- 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
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 64 available ATP5E Antibodies ranked by validation data
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Sources for ATP5F1E Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
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