Human Gene ATP5F1E (ENST00000243997.8_7) from GENCODE V47lift37
  Description: ATP synthase F1 subunit epsilon (from RefSeq NM_006886.4)
Gencode Transcript: ENST00000243997.8_7
Gencode Gene: ENSG00000124172.10_10
Transcript (Including UTRs)
   Position: hg19 chr20:57,600,530-57,607,390 Size: 6,861 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr20:57,605,361-57,607,306 Size: 1,946 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:57,600,530-57,607,390)mRNA (may differ from genome)Protein (51 aa)
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BioGPSEnsemblEntrez GeneExonPrimerGeneCardsMGI
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ATP5E_HUMAN
DESCRIPTION: RecName: Full=ATP synthase subunit epsilon, mitochondrial; Short=ATPase subunit epsilon;
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).
SUBUNIT: 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).
SUBCELLULAR LOCATION: Mitochondrion. Mitochondrion inner membrane.
TISSUE SPECIFICITY: Ubiquitous.
DISEASE: Defects in ATP5E are the cause of mitochondrial complex V deficiency nuclear type 3 (MC5DN3) [MIM:614053]. MC5DN3 is 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.
SIMILARITY: Belongs to the eukaryotic ATPase epsilon family.

-  Primer design for this transcript
 

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Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 573.08 RPKM in Pituitary
Total median expression: 17234.45 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -29.5084-0.351 Picture PostScript Text
3' UTR -867.203370-0.257 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006721 - ATPase_F1-cplx_esu_mt

Pfam Domains:
PF04627 - Mitochondrial ATP synthase epsilon chain

SCOP Domains:
48690 - Epsilon subunit of mitochondrial F1F0-ATP synthase

ModBase Predicted Comparative 3D Structure on P56381
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0016787 hydrolase activity
GO:0022857 transmembrane transporter activity
GO:0046933 proton-transporting ATP synthase activity, rotational mechanism
GO:0016887 ATPase activity

Biological Process:
GO:0006754 ATP biosynthetic process
GO:0006811 ion transport
GO:0015986 ATP synthesis coupled proton transport
GO:0042407 cristae formation
GO:0042776 mitochondrial ATP synthesis coupled proton transport
GO:0099132 ATP hydrolysis coupled cation transmembrane transport

Cellular Component:
GO:0000275 mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005753 mitochondrial proton-transporting ATP synthase complex
GO:0005759 mitochondrial matrix
GO:0016020 membrane
GO:0045261 proton-transporting ATP synthase complex, catalytic core F(1)


-  Descriptions from all associated GenBank mRNAs
  BC001690 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit, mRNA (cDNA clone MGC:1243 IMAGE:2988582), complete cds.
AK026556 - Homo sapiens cDNA: FLJ22903 fis, clone KAT05624.
BC003671 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit, mRNA (cDNA clone MGC:12246 IMAGE:4052063), complete cds.
AF052955 - Homo sapiens F1-ATPase epsilon-subunit (ATP5E) mRNA, complete cds; nuclear gene for mitochondrial product.
BC105811 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit, mRNA (cDNA clone MGC:104243 IMAGE:6739745), complete cds.
AF077045 - Homo sapiens ATP synthase epsilon chain mRNA, nuclear gene encoding mitochondrial protein, complete cds.
JD355451 - Sequence 336475 from Patent EP1572962.
AK315493 - Homo sapiens cDNA, FLJ96556, Homo sapiens ATP synthase, H+ transporting, mitochondrial F1complex, epsilon subunit (ATP5E), nuclear gene encodingmitochondrial protein, mRNA.
BT007293 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit mRNA, complete cds.
KJ904424 - Synthetic construct Homo sapiens clone ccsbBroadEn_13818 ATP5E-like gene, encodes complete protein.
BC070167 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit, mRNA (cDNA clone IMAGE:6739760), partial cds.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-7980 - ATP biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein P56381 (Reactome details) participates in the following event(s):

R-HSA-164840 ADP and Pi bind to ATPase
R-HSA-8949580 F1Fo ATP synthase dimerizes
R-HSA-164834 Enzyme-bound ATP is released
R-HSA-164832 ATPase synthesizes ATP
R-HSA-163210 Formation of ATP by chemiosmotic coupling
R-HSA-8949613 Cristae formation
R-HSA-163200 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
R-HSA-1592230 Mitochondrial biogenesis
R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport
R-HSA-1852241 Organelle biogenesis and maintenance
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ATP5E , ATP5E_HUMAN, ATP5F1E , B2RDD0, E1P5H6, ENST00000243997.1, ENST00000243997.2, ENST00000243997.3, ENST00000243997.4, ENST00000243997.5, ENST00000243997.6, ENST00000243997.7, NM_006886, P56381, Q53XU6, uc317enm.1, uc317enm.2
UCSC ID: ENST00000243997.8_7
RefSeq Accession: NM_006886.4
Protein: P56381 (aka ATP5E_HUMAN or ATPE_HUMAN)

-  Gene Model Information
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-  Methods, Credits, and Use Restrictions
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