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

    Gene ID: 498, updated on 3-Jun-2018
    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; Vega:OTTHUMG00000132637
    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; 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
    See ATP5F1A in Genome Data Viewer
    Location:
    18q21.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 18 NC_000018.10 (46084144..46104233, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (43664110..43684199, 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 RNA, Ro-associated Y4 pseudogene 37 Neighboring gene transfer RNA-Lys (CTT) 6-1 Neighboring gene RNA, U6 small nuclear 1278, pseudogene Neighboring gene HAUS augmin like complex subunit 1 Neighboring gene chromosome 18 open reading frame 25

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    contributes_to ATPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    MHC class I protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA binding HDA PubMed 
    angiostatin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    proton-transporting ATP synthase activity, rotational mechanism IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    proton-transporting ATP synthase activity, rotational mechanism ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transmembrane transporter activity IC
    Inferred by Curator
    more info
    PubMed 
    Process Evidence Code Pubs
    ATP biosynthetic process IC
    Inferred by Curator
    more info
    PubMed 
    ATP biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ATP biosynthetic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    ATP biosynthetic process TAS
    Traceable Author Statement
    more info
     
    ATP hydrolysis coupled cation transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    cristae formation TAS
    Traceable Author Statement
    more info
     
    lipid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mitochondrial ATP synthesis coupled proton transport IC
    Inferred by Curator
    more info
    PubMed 
    negative regulation of endothelial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of blood vessel endothelial cell migration IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    colocalizes_with COP9 signalosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome HDA PubMed 
    membrane HDA PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    mitochondrial proton-transporting ATP synthase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion HDA PubMed 
    mitochondrion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    myelin sheath IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    proton-transporting ATP synthase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    proton-transporting ATP synthase complex, catalytic core F(1) IEA
    Inferred from Electronic Annotation
    more info
     
    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 synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle
    ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2
    ATP sythase (F1-ATPase) alpha subunit
    epididymis secretory sperm binding protein Li 123m
    mitochondrial ATP synthetase, oligomycin-resistant

    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_041769.1 RefSeqGene

      Range
      10881..25090
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001001935.2NP_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)
      AK092735, AW207528, CK002707
      Consensus CDS
      CCDS58620.1
      UniProtKB/Swiss-Prot
      P25705
      Conserved Domains (1) summary
      PRK09281
      Location:2503
      PRK09281; F0F1 ATP synthase subunit alpha; Validated
    2. NM_001001937.1NP_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)
      AK129900, AU143001, AW205533, CD244623
      Consensus CDS
      CCDS11927.1
      UniProtKB/Swiss-Prot
      P25705
      UniProtKB/TrEMBL
      V9HW26
      Related
      ENSP00000282050.2, ENST00000282050.6
      Conserved Domains (1) summary
      PRK09281
      Location:49553
      PRK09281; F0F1 ATP synthase subunit alpha; Validated
    3. NM_001257334.1NP_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)
      AK302272, AW207528, CK002707, D14710
      Consensus CDS
      CCDS59315.1
      UniProtKB/Swiss-Prot
      P25705
      Related
      ENSP00000467037.1, OTTHUMP00000260830, ENST00000590665.5, OTTHUMT00000445119
      Conserved Domains (1) summary
      PRK09281
      Location:49531
      PRK09281; F0F1 ATP synthase subunit alpha; Validated
    4. NM_001257335.1NP_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)
      AK289457, AW207528, CK002707
      Consensus CDS
      CCDS58620.1
      UniProtKB/Swiss-Prot
      P25705
      Related
      ENSP00000465477.2, ENST00000593152.6
      Conserved Domains (1) summary
      PRK09281
      Location:2503
      PRK09281; F0F1 ATP synthase subunit alpha; Validated
    5. NM_004046.5NP_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)
      AW207528, CK002707, D14710
      Consensus CDS
      CCDS11927.1
      UniProtKB/Swiss-Prot
      P25705
      UniProtKB/TrEMBL
      V9HW26
      Related
      ENSP00000381736.5, OTTHUMP00000163475, ENST00000398752.10, OTTHUMT00000255884
      Conserved Domains (1) summary
      PRK09281
      Location:49553
      PRK09281; F0F1 ATP synthase subunit alpha; Validated

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p12 Primary Assembly

      Range
      46084144..46104233 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017025789.1XP_016881278.1  ATP synthase subunit alpha, mitochondrial isoform X1

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