U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    ATP5F1A ATP synthase F1 subunit alpha [ Homo sapiens (human) ]

    Gene ID: 498, updated on 3-Nov-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    ATP5F1Aprovided by HGNC
    Official Full Name
    ATP synthase F1 subunit alphaprovided by HGNC
    Primary source
    HGNC:HGNC:823
    See related
    Ensembl:ENSG00000152234 MIM:164360; AllianceGenome:HGNC:823
    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
    OMR; ORM; ATPM; MOM2; ATP5A; hATP1; ATP5A1; MC5DN4; ATP5AL2; COXPD22; MC5DN4A; MC5DN4B; HEL-S-123m
    Summary
    This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using 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 alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq, Mar 2012]
    Expression
    Ubiquitous expression in heart (RPKM 367.9), kidney (RPKM 254.5) and 25 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See ATP5F1A in Genome Data Viewer
    Location:
    18q21.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (46080248..46104227, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (46271209..46295188, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (43660214..43684193, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene proline-serine-threonine phosphatase interacting protein 2 Neighboring gene UTP18, small subunit (SSU) processome component, homolog (yeast) pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13265 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13266 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13267 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13268 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9416 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:43652131-43652632 Neighboring gene RNY4 pseudogene 37 Neighboring gene tRNA-Lys (CTT) 6-1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:43677662-43678861 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9419 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13271 Neighboring gene RNA, U6 small nuclear 1278, pseudogene Neighboring gene HAUS augmin like complex subunit 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:43735851-43736057 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:43744621-43745122 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:43745123-43745622 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:43747273-43748134 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13273 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13275 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13276 Neighboring gene arkadia (RNF111) N-terminal like PKA signaling regulator 2N Neighboring gene MPRA-validated peak3131 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:43829497-43830133 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:43830134-43830769 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:43839023-43839587 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:43839588-43840151 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:43841527-43842028

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Nucleotide sequence of a cDNA for the alpha subunit of human mitochondrial ATP synthase. Kataoka H, et al. Biochim Biophys Acta, 1991 Jul 23. PMID 1830491
    2. ATP5A1 Participates in Transcriptional and Posttranscriptional Regulation of Cancer-Associated Genes by Modulating Their Expression and Alternative Splicing Profiles in HeLa Cells. Song Ba Y, et al. Technol Cancer Res Treat, 2021 Jan-Dec. PMID 34520292, Free PMC Article
    3. A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency. Lines MA, et al. Eur J Hum Genet, 2021 Nov. PMID 34483339, Free PMC Article
    4. Defining the molecular mechanisms of the mitochondrial permeability transition through genetic manipulation of F-ATP synthase. Carrer A, et al. Nat Commun, 2021 Aug 10. PMID 34376679, Free PMC Article
    5. Reduced Levels of ATP Synthase Subunit ATP5F1A Correlate with Earlier-Onset Prostate Cancer. Feichtinger RG, et al. Oxid Med Cell Longev, 2018. PMID 30538797, Free PMC Article

    See all (383) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Overexpression of ATP5F1A in Cardiomyocytes Promotes Cardiac Reverse Remodeling.
      Title: Overexpression of ATP5F1A in Cardiomyocytes Promotes Cardiac Reverse Remodeling.
    2. BRG1 promotes liver cancer cell proliferation and metastasis by enhancing mitochondrial function and ATP5A1 synthesis through TOMM40.
      Title: BRG1 promotes liver cancer cell proliferation and metastasis by enhancing mitochondrial function and ATP5A1 synthesis through TOMM40.
    3. Proteomic analyses identify HK1 and ATP5A to be overexpressed in distant metastases of lung adenocarcinomas compared to matched primary tumors.
      Title: Proteomic analyses identify HK1 and ATP5A to be overexpressed in distant metastases of lung adenocarcinomas compared to matched primary tumors.
    4. Meta-analysis of brain samples of individuals with schizophrenia detects down-regulation of multiple ATP synthase encoding genes in both females and males.
      Title: Meta-analysis of brain samples of individuals with schizophrenia detects down-regulation of multiple ATP synthase encoding genes in both females and males.
    5. Growth arrest and DNA damage-inducible alpha regulates muscle repair and fat infiltration through ATP synthase F1 subunit alpha.
      Title: Growth arrest and DNA damage-inducible alpha regulates muscle repair and fat infiltration through ATP synthase F1 subunit alpha.
    6. A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency.
      Title: A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency.
    7. ATP5A1 Participates in Transcriptional and Posttranscriptional Regulation of Cancer-Associated Genes by Modulating Their Expression and Alternative Splicing Profiles in HeLa Cells.
      Title: ATP5A1 Participates in Transcriptional and Posttranscriptional Regulation of Cancer-Associated Genes by Modulating Their Expression and Alternative Splicing Profiles in HeLa Cells.
    8. Defining the molecular mechanisms of the mitochondrial permeability transition through genetic manipulation of F-ATP synthase.
      Title: Defining the molecular mechanisms of the mitochondrial permeability transition through genetic manipulation of F-ATP synthase.
    9. F0F1 ATP synthase regulates extracellular calcium influx in human neutrophils by interacting with Cav2.3 and modulates neutrophil accumulation in the lipopolysaccharide-challenged lung.
      Title: F0F1 ATP synthase regulates extracellular calcium influx in human neutrophils by interacting with Ca(v)2.3 and modulates neutrophil accumulation in the lipopolysaccharide-challenged lung.
    10. Poly(GR) bound preferentially to the mitochondrial complex V component ATP5A1 and enhanced its ubiquitination and degradation, consistent with reduced ATP5A1 protein level in both (GR)80 mouse neurons and amyotrophic lateral sclerosis and frontotemporal dementia patient brains
      Title: C9ORF72-ALS/FTD-associated poly(GR) binds Atp5a1 and compromises mitochondrial function in vivo.
    Submit: New GeneRIF Correction See all GeneRIFs (39)

    Phenotypes

    Go to the top of the page Help

    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
    Combined oxidative phosphorylation deficiency 22
    MedGen: C4015062 OMIM: 616045 GeneReviews: Not available
    		Compare labs
    Mitochondrial complex V (ATP synthase) deficiency nuclear type 4B
    MedGen: C3808899 OMIM: 615228 GeneReviews: Not available
    		Compare labs
    Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A
    MedGen: C5830480 OMIM: 620358 GeneReviews: Not available
    		not available

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

    Go to the top of the page Help

    Replication interactions

    Interaction Pubs
    Knockdown of ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle (ATP5A1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify ATP synthase alpha subunit 1 of mitochondrial F1 complex (ATP5A1), 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 ATP synthase alpha subunit 1 of mitochondrial F1 complex (ATP5A1), 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 ATP synthase alpha subunit 1 of mitochondrial F1 complex (ATP5A1), 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 ATP synthase alpha subunit 1 of mitochondrial F1 complex (ATP5A1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Tat tat HIV-1 Tat upregulates the expression of ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle (ATP5A1) in Jurkat cells PubMed
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of ATP synthase F1 complex, alpha subunit 1 (ATP5A1) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed
    retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle (ATP5A1) at amino acid residues 58-59 by the HIV-1 protease PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ADP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ATP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ATP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables MHC class I protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA binding HDA PubMed 
    enables angiostatin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protease binding 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
    		  
    contributes_to proton-transporting ATP synthase activity, rotational mechanism IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables proton-transporting ATP synthase activity, rotational mechanism IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables proton-transporting ATP synthase activity, rotational mechanism ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in ATP biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ATP biosynthetic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in cellular response to dexamethasone stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to nitric oxide IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lipid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of endothelial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of blood vessel endothelial cell migration IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in proton motive force-driven ATP synthesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in proton transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to ethanol IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to muscle activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of COP9 signalosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cell surface IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in membrane HDA PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane raft IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial inner membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IC
    Inferred by Curator
    more info
    		 PubMed 
    located_in mitochondrion NAS
    Non-traceable Author Statement
    more info
    		 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, catalytic core F(1) IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    ATP synthase subunit alpha, mitochondrial
    Names
    ATP synthase alpha chain, mitochondrial
    ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle
    ATP sythase (F1-ATPase) alpha subunit
    epididymis secretory sperm binding protein Li 123m
    mitochondrial ATP synthetase, oligomycin-resistant

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    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_041769.2 RefSeqGene

      Range
      15938..33986
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001001935.3 → NP_001001935.1  ATP synthase subunit alpha, mitochondrial isoform c

      See identical proteins and their annotated locations for NP_001001935.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate splice junction at the 3' end of an exon compared to variant 1, that causes a frameshift. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 4 and 5 both encode the same isoform (c).
      Source sequence(s)
      AC012569, AK092735, AW207528, CK002707
      Consensus CDS
      CCDS58620.1
      UniProtKB/Swiss-Prot
      P25705
      Conserved Domains (1) summary
      PRK09281
      Location:2 → 503
      PRK09281; F0F1 ATP synthase subunit alpha; Validated

    2. NM_001001937.2 → NP_001001937.1  ATP synthase subunit alpha, mitochondrial isoform a precursor

      See identical proteins and their annotated locations for NP_001001937.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AC012569, AK129900, AU143001, AW205533
      Consensus CDS
      CCDS11927.1
      UniProtKB/Swiss-Prot
      A8K092, B4DY56, K7ENP3, P25705, Q53XX6, Q8IXV2, Q96FB4, Q96HW2, Q96IR6, Q9BTV8
      UniProtKB/TrEMBL
      V9HW26
      Related
      ENSP00000282050.2, ENST00000282050.6
      Conserved Domains (1) summary
      PRK09281
      Location:49 → 553
      PRK09281; F0F1 ATP synthase subunit alpha; Validated

    3. NM_001257334.2 → NP_001244263.1  ATP synthase subunit alpha, mitochondrial isoform b precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 1. The resulting isoform (b) lacks an alternate internal segment compared to isoform a.
      Source sequence(s)
      AC012569, AK302272, AW207528, D14710
      Consensus CDS
      CCDS59315.1
      UniProtKB/Swiss-Prot
      P25705
      Related
      ENSP00000467037.1, ENST00000590665.5
      Conserved Domains (1) summary
      PRK09281
      Location:49 → 531
      PRK09281; F0F1 ATP synthase subunit alpha; Validated

    4. NM_001257335.2 → NP_001244264.1  ATP synthase subunit alpha, mitochondrial isoform c

      See identical proteins and their annotated locations for NP_001244264.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and uses an alternate splice junction at the 3' end of an exon compared to variant 1, that causes a frameshift. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 4 and 5 both encode the same isoform (c).
      Source sequence(s)
      AC012569, AK289457, AW207528, CK002707
      Consensus CDS
      CCDS58620.1
      UniProtKB/Swiss-Prot
      P25705
      Related
      ENSP00000465477.2, ENST00000593152.6
      Conserved Domains (1) summary
      PRK09281
      Location:2 → 503
      PRK09281; F0F1 ATP synthase subunit alpha; Validated

    5. NM_004046.6 → NP_004037.1  ATP synthase subunit alpha, mitochondrial isoform a precursor

      See identical proteins and their annotated locations for NP_004037.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AC012569, AW207528, CK002707, D14710
      Consensus CDS
      CCDS11927.1
      UniProtKB/Swiss-Prot
      A8K092, B4DY56, K7ENP3, P25705, Q53XX6, Q8IXV2, Q96FB4, Q96HW2, Q96IR6, Q9BTV8
      UniProtKB/TrEMBL
      V9HW26
      Related
      ENSP00000381736.5, ENST00000398752.11
      Conserved Domains (1) summary
      PRK09281
      Location:49 → 553
      PRK09281; F0F1 ATP synthase subunit alpha; Validated

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      46080248..46104227 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      46271209..46295188 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P25705.1 GenPept UniProtKB/Swiss-Prot:P25705

    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
    Tools
    Miscellaneous