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

    Gene ID: 514, updated on 7-Sep-2023

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See ATP5F1E in Genome Data Viewer
    Location:
    20q13.32
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (59025475..59032335, complement)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (60808588..60815448, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (57600530..57607390, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:57556569-57557069 Neighboring gene negative elongation factor complex member C/D Neighboring gene cathepsin Z Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:57581561-57582372 Neighboring gene tubulin beta 1 class VI Neighboring gene NANOG hESC enhancer GRCh37_chr20:57603869-57604399 Neighboring gene SLMO2-ATP5E readthrough Neighboring gene PRELI domain containing 3B Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:57638504-57639703 Neighboring gene uncharacterized LOC124904943

    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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC104243

    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
    PubMed 
    contributes_to proton-transporting ATP synthase activity, rotational mechanism IDA
    Inferred from Direct Assay
    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)

    NEW Try the new Transcript table

    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
      B2RDD0, E1P5H6, P56381, Q53XU6, Q5VTU8
      Related
      ENSP00000243997.3, ENST00000243997.8
      Conserved Domains (1) summary
      pfam04627
      Location:350
      ATP-synt_Eps; Mitochondrial ATP synthase epsilon chain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      59025475..59032335 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      60808588..60815448 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)