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

Gene ID: 498, updated on 4-Nov-2018

Summary

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

Genomic context

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 RNY4 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

Genomic regions, transcripts, and products

Expression

  • 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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ADP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATP binding ISS
Inferred from Sequence or Structural Similarity
more info
 
contributes_to ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
ATP metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATP synthesis coupled proton transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cristae formation TAS
Traceable Author Statement
more info
 
electron transport chain IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
response to oxidative stress IBA
Inferred from Biological aspect of Ancestor
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 
mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) IBA
Inferred from Biological aspect of Ancestor
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 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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