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

Gene ID: 539, updated on 2-Nov-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
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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

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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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. 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. Wu YT, et al. Biochim Biophys Acta, 2013 Jan. PMID 23046812
  5. The ATPase Inhibitory Factor 1 (IF1): A master regulator of energy metabolism and of cell survival. García-Bermúdez J, et al. Biochim Biophys Acta, 2016 Aug. PMID 26876430

See all (176) 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)

Genotypes

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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