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

    Gene ID: 9551, updated on 10-Dec-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (99458195..99466167, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (100697101..100705074, complement)
    RS_2024_09 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. 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
    2. Serial analysis of the vascular endothelial transcriptome under static and shear stress conditions. Chu TJ, et al. Physiol Genomics, 2008 Jul 15. PMID 18505769
    3. 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
    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 (87) 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)

    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
    		  
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IC
    Inferred by Curator
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of proton-transporting ATP synthase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of proton-transporting ATP synthase complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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