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ATP5F1E - ATP synthase F1 subunit epsilon Gene

Also Known as ATPE; ATP5E; MC5DN3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 514

About ATP5F1E

Cytogenetic location: 20q13.32 Genomic coordinates (GRCh38): 20:59,025,475-59,032,335 (from NCBI)

This gene has 3 transcripts (splice variants), 123 orthologues and is associated with 2 phenotypes. Ubiquitous expression in colon (RPKM 289.1), fat (RPKM 288.7) and 25 other tissues.

Summary

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]

ATP5F1E Products (1)

mRNA	Protein	Name
NM_006886.4	NP_008817.1	ATP synthase subunit epsilon, mitochondrial

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA
contributes to proton-transporting ATP synthase activity, rotational mechanism	IDA IDA: Inferred from direct assay	12110673	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in proton motive force-driven mitochondrial ATP synthesis	IDA IDA: Inferred from direct assay	12110673	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of proton-transporting ATP synthase complex	IDA IDA: Inferred from direct assay	12110673	GOA
part of proton-transporting ATP synthase complex, catalytic core F(1)	IMP IMP: Inferred from mutant phenotype	20566710	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ATP5F1E Protein Structure

ATP-synt_Eps

0
51 a.a.

Protein Preferred Names	Protein Names
ATP synthase subunit epsilon, mitochondrial	ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit

ATP5F1E Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ATP5F1E	P56381	AGTRAP	Homo sapiens	Q6RW13-2	Y2H Prey Pooling	32296183
Intra	ATP5F1E	P56381	AGTRAP	Homo sapiens	Q6RW13-2	Validated Y2H	32296183
Intra	ATP5F1E	P56381	AGTRAP	Homo sapiens	Q6RW13-2	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Mitochondrial Complex V Deficiency, Nuclear Type 3	Mitochondrial Complex Iii Deficiency Nuclear Type 5 MC5DN3 Mitochondrial Complex Iii Deficiency, Nuclear Type 5 Mitochondrial Complex V Deficiency Nuclear Type 3 MC3DN5 Mitochondrial Complex V Deficiency, Atp5e Type Mitochondrial Complex Iii Deficiency, Nuclear 5 Mitochondrial Complex V Deficiency, Nuclear Type 3 Mitochondrial Complex V Deficiency Atp5e Type Mitochondrial Complex V Deficiency Type 3 Mitochondrial Complex V Deficiency, Nuclear, Type 3
Isolated Atp Synthase Deficiency	Isolated Mitochondrial Respiratory Chain Complex V Deficiency
Mitochondrial Complex V Deficiency, Nuclear Type 5	Mitochondrial Complex V Deficiency MC5DN5 Mitochondrial Complex V Deficiency, Atp5f1d Type Mitochondrial Complex V Deficiency Mitochondrial Complex 5 Deficiency Nuclear Type 5 Complex 5 Mitochondrial Respiratory Chain Deficiency Atp Synthase Deficiency Mitochondrial Complex V Deficiency, Nuclear Type 5 Complex V Deficiency
Leigh Syndrome	Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency LS Sne Leigh'S Disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Subacute Necrotizing Encephalomyelopathy Necrotizing Encephalopathy Infantile Subacute Of Leigh Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency Infantile Necrotizing Encephalomyelopathy Juvenile Subacute Necrotizing Encephalomyelopathy Leigh'S Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy Juvenile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency Leigh Syndrome Due To Mitochondrial Complex V Deficiency Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Maternally Inherited Leigh Syndrome Subacute Necrotising Encephalomyelopathy Subacute Necrotising Encephalopathy
Glycogen Storage Disease Xv	GSD15 Gsd Xv Glycogenin Deficiency Gyg1 Deficiency Glycogen Storage Disease Type Xv Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency Gsd Type 15 Gsd Type Xv Gsd With Severe Cardiomyopathy Due To Glycogenin Deficiency Glycogen Storage Disease Type 15 Glycogenosis Type 15 Glycogenosis Type Xv Glycogenosis With Severe Cardiomyopathy Due To Glycogenin Deficiency Glycogen Storage Disease 15 Storage Disease, Glycogen, Type Xv
3-Methylglutaconic Aciduria	3-Methyl Glutaconic Aciduria
3-Methylglutaconic Aciduria, Type Iii	Optic Atrophy 3-Methylglutaconic Aciduria Type 3 Costeff Syndrome Mga3 Costeff Optic Atrophy Syndrome Optic Atrophy Plus Syndrome Infantile Optic Atrophy With Chorea And Spastic Paraplegia 3-Methylglutaconic Aciduria Type Iii Autosomal Recessive Optic Atrophy Plus Syndrome Autosomal Recessive Optic Atrophy Type 3 Opa3 Defect MGCA3 Mga, Type Iii Iraqi Jewish Optic Atrophy Plus Mga Type Iii Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia Iraqi-Jewish 'Optic Atrophy Plus' Optic Atrophy 3, Autosomal Recessive Opa3, Autosomal Recessive Opa3-Related 3-Methylglutaconic Aciduria Iraqi-Jewish Optic Atrophy Plus Atrophy Of Optic Disc 3-Alpha Methylglutaconic Aciduria Type Iii Optic Atrophy 3 Optic Atrophy Infantile With Chorea And Spastic Paraplegia Autosomal Recessive Opa3 Autosomal Recessive Optic Atrophy 3 3-Methylglutaconic Aciduria 3 3-Alpha-Methylglutaconic Aciduria Type 3 Optic Atrophy 3 Autosomal Recessive Atrophy, Optic Atrophy, Optic, Plus Syndrome Optic Nerve Atrophy Primary Optic Atrophy Oa - [Optic Atrophy] Second Cranial Nerve Atrophy Second Cranium Nerve Atrophy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01206	ATP5F1E Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ATP5F1E	RGD	RGD:621374
Mus musculus	ATP5F1E	MGD	MGI:1855697
Others	ATP5F1E	NCBI