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

Gene ID: 514, updated on 27-Dec-2018

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
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

Genomic context

See ATP5F1E in Genome Data Viewer
Location:
20q13.32
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (59028678..59032367, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (57603733..57607422, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene cathepsin Z Neighboring gene tubulin beta 1 class VI Neighboring gene SLMO2-ATP5E readthrough Neighboring gene PRELI domain containing 3B Neighboring gene mitochondrial ribosomal protein S16 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC104243

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
proton-transporting ATP synthase activity, rotational mechanism IEA
Inferred from Electronic Annotation
more info
 
transmembrane transporter activity IC
Inferred by Curator
more info
PubMed 
Process Evidence Code Pubs
ATP biosynthetic process TAS
Traceable Author Statement
more info
 
ATP hydrolysis coupled cation transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
cristae formation TAS
Traceable Author Statement
more info
 
mitochondrial ATP synthesis coupled proton transport IC
Inferred by Curator
more info
PubMed 
Component Evidence Code Pubs
mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrial proton-transporting ATP synthase complex IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_031871.2 RefSeqGene

    Range
    5001..8690
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006886.4NP_008817.1  ATP synthase subunit epsilon, mitochondrial

    See identical proteins and their annotated locations for NP_008817.1

    Status: REVIEWED

    Source sequence(s)
    AL109840, CB106920, DA202623, KF495837
    Consensus CDS
    CCDS13476.1
    UniProtKB/Swiss-Prot
    P56381
    Related
    ENSP00000243997.3, ENST00000243997.7
    Conserved Domains (1) summary
    pfam04627
    Location:350
    ATP-synt_Eps; Mitochondrial ATP synthase epsilon chain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

    Range
    59028678..59032367 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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