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    ATP5F1EP2 ATP synthase F1 subunit epsilon pseudogene 2 [ Homo sapiens (human) ]

    Gene ID: 432369, updated on 7-Apr-2024

    Summary

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    Official Symbol
    ATP5F1EP2provided by HGNC
    Official Full Name
    ATP synthase F1 subunit epsilon pseudogene 2provided by HGNC
    Primary source
    HGNC:HGNC:34026
    See related
    AllianceGenome:HGNC:34026
    Gene type
    pseudo
    RefSeq status
    INFERRED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ATP5EP2
    Summary
    Predicted to enable hydrolase activity. Predicted to contribute to proton-transporting ATP synthase activity, rotational mechanism. Predicted to be involved in mitochondrial ATP synthesis coupled proton transport. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
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    Genomic context

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    See ATP5F1EP2 in Genome Data Viewer
    Location:
    13q12.2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (27945206..27945573)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (27166653..27167021)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (28519343..28519710)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene PDX1 associated lncRNA, upregulator of transcription Neighboring gene uncharacterized LOC105370130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:28497939-28498606 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:28498607-28499273 Neighboring gene pancreatic and duodenal homeobox 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5205 Neighboring gene long intergenic non-protein coding RNA 543 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr13:28539919-28540610 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr13:28540611-28541302 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:28542687-28543378 Neighboring gene caudal type homeobox 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Assembly of human mitochondrial ATP synthase through two separate intermediates, F1-c-ring and b-e-g complex. Fujikawa M, et al. FEBS Lett, 2015 Sep 14. PMID 26297831
    2. Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. Wolpin BM, et al. Nat Genet, 2014 Sep. PMID 25086665, Free PMC Article
    3. Phosphoproteome analysis of functional mitochondria isolated from resting human muscle reveals extensive phosphorylation of inner membrane protein complexes and enzymes. Zhao X, et al. Mol Cell Proteomics, 2011 Jan. PMID 20833797, Free PMC Article
    4. Comparative Application of BioID and TurboID for Protein-Proximity Biotinylation. May DG, et al. Cells, 2020 Apr 25. PMID 32344865, Free PMC Article
    5. Control of a neuronal morphology program by an RNA-binding zinc finger protein, Unkempt. Murn J, et al. Genes Dev, 2015 Mar 1. PMID 25737280, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
    EBI GWAS Catalog

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Other Names

    • ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 2

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    contributes_to proton-transporting ATP synthase activity, rotational mechanism IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 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 
    part_of mitochondrial proton-transporting ATP synthase complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of mitochondrial proton-transporting ATP synthase complex, catalytic sector F(1) IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HDA PubMed 

    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.

    Genomic

    1. NG_053163.1 

      Range
      101..468
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      27945206..27945573
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      27166653..27167021
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_002162.1: Suppressed sequence

      Description
      NR_002162.1: This RefSeq was removed because there is insufficient evidence that this locus is transcribed.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5VTU8.1 GenPept UniProtKB/Swiss-Prot:Q5VTU8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials