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ATP5MF ATP synthase membrane subunit f [ Homo sapiens (human) ]

Gene ID: 9551, updated on 5-Mar-2024

Summary

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Official Symbol
ATP5MFprovided by HGNC
Official Full Name
ATP synthase membrane subunit fprovided by HGNC
Primary source
HGNC:HGNC:848
See related
Ensembl:ENSG00000241468 MIM:619792; AllianceGenome:HGNC:848
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
ATP5J2; ATP5JL
Summary
Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The catalytic portion of mitochondrial ATP synthase consists of five different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the f subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. This gene has multiple pseudogenes. Naturally occurring read-through transcription also exists between this gene and the downstream pentatricopeptide repeat domain 1 (PTCD1) gene. [provided by RefSeq, Nov 2010]
Expression
Ubiquitous expression in colon (RPKM 103.6), kidney (RPKM 95.9) and 25 other tissues See more
Orthologs
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Genomic context

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See ATP5MF in Genome Data Viewer
Location:
7q22.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (99458195..99466167, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (100697101..100705074, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (99055818..99063790, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATP5MF-PTCD1 readthrough Neighboring gene BUD31 homolog Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:99020619-99021120 Neighboring gene pentatricopeptide repeat domain 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99027477-99028073 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:99032915-99033062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:99034189-99034714 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26315 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18410 Neighboring gene SAP domain containing ribonucleoprotein pseudogene Neighboring gene cleavage and polyadenylation specific factor 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:99049670-99050230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:99053345-99054147 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:99058948-99059448 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99062959-99063576 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99063577-99064192 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26317 Neighboring gene tRNA-Trp (anticodon CCA) 5-1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26318 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26319 Neighboring gene zinc finger protein 789 Neighboring gene zinc finger protein 394

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
  • 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. The new role of F(1)F(o) ATP synthase in mitochondria-mediated neurodegeneration and neuroprotection. Mnatsakanyan N, et al. Exp Neurol, 2020 Oct. PMID 32653453, Free PMC Article
  2. Identification of marker genes for differential diagnosis of chronic fatigue syndrome. Saiki T, et al. Mol Med, 2008 Sep-Oct. PMID 18596870, Free PMC Article
  3. Serial analysis of the vascular endothelial transcriptome under static and shear stress conditions. Chu TJ, et al. Physiol Genomics, 2008 Jul 15. PMID 18505769
  4. The F1Fo-ATPase inhibitor, IF1, is a critical regulator of energy metabolism in cancer cells. Solaini G, et al. Biochem Soc Trans, 2021 Apr 30. PMID 33929490
  5. Cytochrome c oxidase and mitochondrial F1F0-ATPase (ATP synthase) activities in platelets and brain from patients with Alzheimer's disease. Bosetti F, et al. Neurobiol Aging, 2002 May-Jun. PMID 11959398

See all (78) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The F1Fo-ATPase inhibitor, IF1, is a critical regulator of energy metabolism in cancer cells.
    Title: The F1Fo-ATPase inhibitor, IF1, is a critical regulator of energy metabolism in cancer cells.
  2. The new role of F1Fo ATP synthase in mitochondria-mediated neurodegeneration and neuroprotection.
    Title: The new role of F(1)F(o) ATP synthase in mitochondria-mediated neurodegeneration and neuroprotection.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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

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

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
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 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 IDA
Inferred from Direct Assay
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
  
part_of mitochondrial proton-transporting ATP synthase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of mitochondrial proton-transporting ATP synthase complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of mitochondrial proton-transporting ATP synthase complex NAS
Non-traceable Author Statement
more info
 PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  
located_in nuclear membrane IDA
Inferred from Direct Assay
more info
  
part_of proton-transporting ATP synthase complex, coupling factor F(o) IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
ATP synthase subunit f, mitochondrial
Names
ATP synthase f chain, mitochondrial
ATP synthase, H+ transporting, mitochondrial F0 complex, subunit f
ATP synthase, H+ transporting, mitochondrial Fo complex subunit F2
F1F0-type ATPase subunit f
F1Fo-ATP synthase complex Fo membrane domain f subunit
F1Fo-ATPase synthase f subunit
NP_001003713.1
NP_001003714.1
NP_001034267.1
NP_004880.1

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_001003713.4 → NP_001003713.1  ATP synthase subunit f, mitochondrial isoform 2b

    See identical proteins and their annotated locations for NP_001003713.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. It encodes a shorter isoform (2b) that is missing an internal segment when compared to isoform 2a.
    Source sequence(s)
    CD173604, EL952520
    Consensus CDS
    CCDS47654.1
    UniProtKB/TrEMBL
    Q53FE1
    Related
    ENSP00000377740.3, ENST00000394186.3
    Conserved Domains (1) summary
    pfam10206
    Location:8 → 83
    WRW; Mitochondrial F1F0-ATP synthase, subunit f

  2. NM_001003714.4 → NP_001003714.1  ATP synthase subunit f, mitochondrial isoform 2c

    See identical proteins and their annotated locations for NP_001003714.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. It encodes a shorter isoform (2c) that is missing an internal segment when compared to isoform 2a.
    Source sequence(s)
    CB110074
    Consensus CDS
    CCDS34692.1
    UniProtKB/Swiss-Prot
    P56134
    Related
    ENSP00000352890.4, ENST00000359832.8
    Conserved Domains (1) summary
    pfam10206
    Location:14 → 50
    WRW; Mitochondrial F1F0-ATP synthase, subunit f

  3. NM_001039178.4 → NP_001034267.1  ATP synthase subunit f, mitochondrial isoform 2d

    See identical proteins and their annotated locations for NP_001034267.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 5' coding region, and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. It encodes a shorter isoform (2d) that is missing multiple internal segments when compared to isoform 2a.
    Source sequence(s)
    CD173604, CD176299
    Consensus CDS
    CCDS47653.1
    UniProtKB/Swiss-Prot
    P56134
    Related
    ENSP00000418197.1, ENST00000488775.5
    Conserved Domains (1) summary
    pfam10206
    Location:8 → 44
    WRW; Mitochondrial F1F0-ATP synthase, subunit f

  4. NM_004889.5 → NP_004880.1  ATP synthase subunit f, mitochondrial isoform 2a

    See identical proteins and their annotated locations for NP_004880.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript, and it encodes the longest isoform (2a).
    Source sequence(s)
    AF047436
    Consensus CDS
    CCDS5665.1
    UniProtKB/Swiss-Prot
    C9J8H9, F8W7V3, O76079, P56134, Q6IBB3, Q96L83, Q9BTI8
    UniProtKB/TrEMBL
    Q53FE1
    Related
    ENSP00000292475.4, ENST00000292475.8
    Conserved Domains (1) summary
    pfam10206
    Location:14 → 89
    WRW; Mitochondrial F1F0-ATP synthase, subunit f

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    99458195..99466167 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    100697101..100705074 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001190353.1: Suppressed sequence

    Description
    NM_001190353.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

  2. NM_001190354.1: Suppressed sequence

    Description
    NM_001190354.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P56134.3 GenPept UniProtKB/Swiss-Prot:P56134

Gene LinkOut

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