ATP5F1E ATP synthase F1 subunit epsilon [Homo sapiens (human)] - Gene

Summary

Official Symbol: ATP5F1Eprovided by HGNC
Official Full Name: ATP synthase F1 subunit epsilonprovided by HGNC
Primary source: HGNC:HGNC:838
See related: Ensembl:ENSG00000124172 MIM:606153; AllianceGenome:HGNC:838
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ATPE; ATP5E; MC5DN3
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]
Expression: Ubiquitous expression in colon (RPKM 289.1), fat (RPKM 288.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.32

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (59025475..59032335, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (60808588..60815448, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (57600530..57607390, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hsa_circ_0079480 enhances cell proliferation, migration, and invasion in colorectal cancer through miR-498/ATP5E axis.
Title: Hsa_circ_0079480 enhances cell proliferation, migration, and invasion in colorectal cancer through miR-498/ATP5E axis.
ATP5E transcript alteration (down-expression) was highly associated to PTC diagnosis
Title: Molecular Analysis by Gene Expression of Mitochondrial ATPase Subunits in Papillary Thyroid Cancer: Is ATP5E Transcript a Possible Early Tumor Marker?
The cell surface F1/F0 ATP synthase complex plays a key role in the acidic microenvironment of tumor tissues.
Title: Cell surface F1/FO ATP synthase contributes to interstitial flow-mediated development of the acidic microenvironment in tumor tissues.
the epsilon subunit is essential for the assembly of F1 and plays an important role in the incorporation of the hydrophobic subunit c into the F1-c oligomer rotor of the mitochondrial ATP synthase complex
Title: Knockdown of F1 epsilon subunit decreases mitochondrial content of ATP synthase and leads to accumulation of subunit c.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Galectin 3 co-localized with ATP synthase in the inner membrane of mitochondria and had an inhibitory effect on ATP synthase in human colon cancer cells.
Title: Identification of mitochondrial F(1)F(0)-ATP synthase interacting with galectin-3 in colon cancer cells.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Mitochondrial complex V (ATP synthase) deficiency nuclear type 3 MedGen: C3279708 OMIM: 614053 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH119929 (e-PCR)
- UniSTS:133130

RH78170 (e-PCR)
- UniSTS:72205

STS-R77463 (e-PCR)
- UniSTS:535

STS-N30323 (e-PCR)
- UniSTS:82877

RH36304 (e-PCR)
- UniSTS:67266

Readthrough SLMO2-ATP5E

Readthrough gene: SLMO2-ATP5E, Included gene: PRELID3B

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to proton-transporting ATP synthase activity, rotational mechanism	IBA Inferred from Biological aspect of Ancestor more info
contributes_to proton-transporting ATP synthase activity, rotational mechanism	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in proton motive force-driven ATP synthesis	NAS Non-traceable Author Statement more info	PubMed
involved_in proton motive force-driven mitochondrial ATP synthesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in proton motive force-driven mitochondrial ATP synthesis	IDA Inferred from Direct Assay more info	PubMed
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in mitochondrial inner membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial inner membrane	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IC Inferred by Curator more info	PubMed
part_of proton-transporting ATP synthase complex	IDA Inferred from Direct Assay more info	PubMed
part_of proton-transporting ATP synthase complex, catalytic core F(1)	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: ATP synthase subunit epsilon, mitochondrial

Names: ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit; F(0)F(1)-ATPase; H(+)-transporting two-sector ATPase; mitochondrial ATP synthase epsilon chain; mitochondrial ATPase

NP_008817.1

EC 7.1.2.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.