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    ATP5PO ATP synthase peripheral stalk subunit OSCP [ Homo sapiens (human) ]

    Gene ID: 539, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ATP5POprovided by HGNC
    Official Full Name
    ATP synthase peripheral stalk subunit OSCPprovided by HGNC
    Primary source
    HGNC:HGNC:850
    See related
    Ensembl:ENSG00000241837 MIM:600828; AllianceGenome:HGNC:850
    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
    ATPO; OSCP; ATP5O; MC5DN7; HMC08D05
    Summary
    The protein encoded by this gene is a component of the F-type ATPase found in the mitochondrial matrix. F-type ATPases are composed of a catalytic core and a membrane proton channel. The encoded protein appears to be part of the connector linking these two components and may be involved in transmission of conformational changes or proton conductance. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in heart (RPKM 296.0), duodenum (RPKM 137.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ATP5PO in Genome Data Viewer
    Location:
    21q22.11
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (33903453..33915804, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (32285156..32297516, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (35275757..35288108, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18382 Neighboring gene crystallin zeta like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18383 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13263 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13264 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13265 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:35029077-35029576 Neighboring gene intersectin 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr21:35063898-35064424 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr21:35064425-35064951 Neighboring gene H3K27me3-DHS negatively-acting regulatory element H4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:35069053-35069554 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:35114498-35114600 Neighboring gene NANOG hESC enhancer GRCh37_chr21:35173966-35174467 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:35229825-35230518 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr21:35257366-35258565 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:35267187-35267773 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:35267774-35268359 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:35274085-35274680 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr21:35285966-35287165 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18384 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:35303079-35303720 Neighboring gene RNA, 7SL, cytoplasmic 740, pseudogene Neighboring gene long intergenic non-protein coding RNA 649 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:35319651-35320850 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18386 Neighboring gene uncharacterized LOC124905013

    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. Cloning of the cDNA for the human ATP synthase OSCP subunit (ATP5O) by exon trapping and mapping to chromosome 21q22.1-q22.2. Chen H, et al. Genomics, 1995 Aug 10. PMID 7490082
    2. Genetic variation in ATP5O is associated with skeletal muscle ATP50 mRNA expression and glucose uptake in young twins. Rönn T, et al. PLoS One, 2009. PMID 19274082, Free PMC Article
    3. A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. Ganapathi M, et al. J Inherit Metab Dis, 2022 Sep. PMID 35621276, Free PMC Article
    4. Identification and validation of the mitochondrial F1F0-ATPase as the molecular target of the immunomodulatory benzodiazepine Bz-423. Johnson KM, et al. Chem Biol, 2005 Apr. PMID 15850986
    5. Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. ENCODE Project Consortium, et al. Nature, 2007 Jun 14. PMID 17571346, Free PMC Article

    See all (182) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.
      Title: A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.
    2. Claudin-10 overexpression suppresses human clear cell renal cell carcinoma growth and metastasis by regulating ATP5O and causing mitochondrial dysfunction.
      Title: Claudin-10 overexpression suppresses human clear cell renal cell carcinoma growth and metastasis by regulating ATP5O and causing mitochondrial dysfunction.
    3. Upon IF1 interaction with the ATP synthase both the synthetic and hydrolytic activities of the engine of oxidative phosphorylation are inhibited. (Review)
      Title: The ATPase Inhibitory Factor 1 (IF1): A master regulator of energy metabolism and of cell survival.
    4. Sirt3 physically interacted with the OSCP and led to its subsequent deacetylation.
      Title: Regulation of mitochondrial F(o)F(1)ATPase activity by Sirt3-catalyzed deacetylation and its deficiency in human cells harboring 4977bp deletion of mitochondrial DNA.
    5. Genetic variation and age are associated with skeletal muscle ATP5O mRNA expression and glucose disposal rate, suggesting that combinations of genetic and non-genetic factors may cause the reduced expression of ATP5O in type 2 diabetes muscle
      Title: Genetic variation in ATP5O is associated with skeletal muscle ATP50 mRNA expression and glucose uptake in young twins.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    7. Human mitochondrial F(1)F(0) ATP synthase was isolated with a one-step immunological approach.
      Title: A functionally active human F1F0 ATPase can be purified by immunocapture from heart tissue and fibroblast cell lines. Subunit structure and activity studies.
    Submit: New GeneRIF Correction

    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 7
    MedGen: C5830482 OMIM: 620359 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Seventy-five genetic loci influencing the human red blood cell.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify mitochondrial F1 complex ATP synthase O subunit (ATP5O), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify mitochondrial F1 complex ATP synthase O subunit (ATP5O), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Nef nef Tandem affinity purification and mass spectrometry analysis identify mitochondrial F1 complex ATP synthase O subunit (ATP5O), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify mitochondrial F1 complex ATP synthase O subunit (ATP5O), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Vpu vpu HIV-1 Vpu is identified to have a physical interaction with ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit (ATP5O) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 ATP biosynthetic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in proton transmembrane transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus HDA PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    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 NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ATP synthase subunit O, mitochondrial
    Names
    ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit
    human ATP synthase OSCP subunit
    oligomycin sensitivity conferral protein oscp-like protein
    oligomycin sensitivity conferring protein
    NP_001688.1

    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.

    mRNA and Protein(s)

    1. NM_001697.3 → NP_001688.1  ATP synthase subunit O, mitochondrial precursor

      See identical proteins and their annotated locations for NP_001688.1

      Status: REVIEWED

      Source sequence(s)
      AF088071, AV734214, AW518473, CD174837
      Consensus CDS
      CCDS13634.1
      UniProtKB/Swiss-Prot
      B2R4E2, P48047, Q5U042, Q6IBI2
      UniProtKB/TrEMBL
      Q53HH2
      Related
      ENSP00000290299.2, ENST00000290299.7
      Conserved Domains (1) summary
      pfam00213
      Location:37 → 209
      OSCP; ATP synthase delta (OSCP) subunit

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      33903453..33915804 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      32285156..32297516 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P48047.1 GenPept UniProtKB/Swiss-Prot:P48047

    Gene LinkOut

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