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

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

Summary

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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
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Genomic context

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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

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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. 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

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

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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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

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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 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

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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)

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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_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

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