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ATP5PF ATP synthase peripheral stalk subunit F6 [ Homo sapiens (human) ]

Gene ID: 522, updated on 3-Nov-2024

Summary

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Official Symbol
ATP5PFprovided by HGNC
Official Full Name
ATP synthase peripheral stalk subunit F6provided by HGNC
Primary source
HGNC:HGNC:847
See related
Ensembl:ENSG00000154723 MIM:603152; AllianceGenome:HGNC:847
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
F6; CF6; ATP5; ATPM; ATP5A; ATP5J
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 F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo complex has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the F6 subunit of the Fo complex. The F6 subunit is required for F1 and Fo interactions. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. This gene has 1 or more pseudogenes. [provided by RefSeq, Feb 2016]
Expression
Ubiquitous expression in heart (RPKM 71.0), kidney (RPKM 49.2) and 25 other tissues See more
Orthologs
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Genomic context

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See ATP5PF in Genome Data Viewer
Location:
21q21.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (25724500..25735653, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (24082042..24093216, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (27096811..27107964, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene junctional adhesion molecule 2 Neighboring gene uncharacterized LOC124905002 Neighboring gene ferredoxin 1 pseudogene 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:27104507-27105344 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13232 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:27107035-27107690 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13233 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13234 Neighboring gene GA binding protein transcription factor subunit alpha Neighboring gene LLPH pseudogene 2 Neighboring gene uncharacterized LOC105372757

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. Human mitochondrial ATP synthase: cloning cDNA for the nuclear-encoded precursor of coupling factor 6. Javed AA, et al. Gene, 1991 Jan 15. PMID 1825642
  2. Over-expression of the ATP5J gene correlates with cell migration and 5-fluorouracil sensitivity in colorectal cancer. Zhu H, et al. PLoS One, 2013. PMID 24124598, Free PMC Article
  3. Heterogeneous patterns of tissue injury in NARP syndrome. Gelfand JM, et al. J Neurol, 2011 Mar. PMID 20953793, Free PMC Article
  4. Plasma level of mitochondrial coupling factor 6 increases in patients with coronary heart disease. Chai SB, et al. Circ J, 2007 May. PMID 17456993
  5. Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations. Morava E, et al. Am J Med Genet A, 2006 Apr 15. PMID 16532470

See all (86) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. AKT2 and XIST expression was identified as a potential biomarker participating in the effect of ATP5J in colorectal cancer
    Title: Identification of candidate genes and long non-coding RNAs associated with the effect of ATP5J in colorectal cancer.
  2. CF6-induced increase in apoptotic cells was blocked by immature or mature IF1, being accompanied by protein kinase B (PKB) phosphorylation. IF1 antagonizes the pro-apoptotic action of CF6 by relief of intracellular acidification and resultant phosphorylation of PKB.
    Title: Mitochondrial Inhibitory Factor Protein 1 Functions as an Endogenous Inhibitor for Coupling Factor 6.
  3. Over-expression of the ATP5J gene correlates with cell migration and 5-fluorouracil sensitivity in colorectal cancer.
    Title: Over-expression of the ATP5J gene correlates with cell migration and 5-fluorouracil sensitivity in colorectal cancer.
  4. CF6 plays a crucial role in the development of insulin resistance and hypertension
    Title: Coupling factor 6-induced activation of ecto-F1F(o) complex induces insulin resistance, mild glucose intolerance and elevated blood pressure in mice.
  5. The phenotypic range of retinal, peripheral and central nervous system disease expression is characterized in a single family with NARP syndrome from the ATPase 6 m.8993T>C mtDNA point mutation.
    Title: Heterogeneous patterns of tissue injury in NARP syndrome.
  6. coupling factor 6 induces the development of systolic dysfunction and upregulation of nicotinamide adenine dinucleotide phosphate oxidase in the heart under the high-salt diet
    Title: Overexpression of coupling factor 6 causes cardiac dysfunction under high-salt diet in mice.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  8. Coupling factor 6 enhances Src-mediated responsiveness to angiotensin II in resistance arterioles and cells.
    Title: Coupling factor 6 enhances Src-mediated responsiveness to angiotensin II in resistance arterioles and cells.
  9. T8993G allele causes severe extrapyramidal dysfunction and Leigh disease but there is no correlation between the degree of enzyme deficiency and the severity of the phenotype.
    Title: Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations.
  10. in vascular endothelial cells both CF6 (coupling factor 6) and Angiotensin II downregulate PECAM-1 (platelet/endothelial cell adhesion molecule) expression via activation of c-Src kinase
    Title: Coupling factor 6 downregulates platelet endothelial cell adhesion molecule-1 via c-Src activation and acts as a proatherogenic molecule.
Submit: New GeneRIF Correction See all GeneRIFs (15)

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

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Vpu vpu HIV-1 Vpu is identified to have a physical interaction with ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6 (ATP5J) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses 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 protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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 IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in proton transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in substantia nigra development HEP 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 HDA PubMed 
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
  
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, coupling factor F(o) IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
ATP synthase-coupling factor 6, mitochondrial
Names
ATP synthase subunit h
ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F6
ATP synthase, H+ transporting, mitochondrial Fo complex subunit F6
ATPase subunit F6
coupling factor 6
mitochondrial ATP synthase, coupling factor 6
mitochondrial ATP synthase, subunit F6
mitochondrial ATPase coupling factor 6
proliferation-inducing protein 36
NP_001003696.1
NP_001003697.1
NP_001003701.1
NP_001003703.1
NP_001307195.1
NP_001307196.1
NP_001676.2

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_001003696.2 → NP_001003696.1  ATP synthase-coupling factor 6, mitochondrial isoform a precursor

    See identical proteins and their annotated locations for NP_001003696.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, 4, 6 and 7 encode the same isoform (a).
    Source sequence(s)
    AI085837, BC001178, BC066310, BU174560
    Consensus CDS
    CCDS13574.1
    UniProtKB/Swiss-Prot
    J3KQ83, P18859
    UniProtKB/TrEMBL
    Q6IB54, Q6NZ59
    Related
    ENSP00000382959.3, ENST00000400087.7
    Conserved Domains (1) summary
    pfam05511
    Location:1 → 96
    ATP-synt_F6; Mitochondrial ATP synthase coupling factor 6

  2. NM_001003697.2 → NP_001003697.1  ATP synthase-coupling factor 6, mitochondrial isoform a precursor

    See identical proteins and their annotated locations for NP_001003697.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, 4, 6 and 7 encode the same isoform (a).
    Source sequence(s)
    AI085837, BC001178, BC066310, BG938438
    Consensus CDS
    CCDS13574.1
    UniProtKB/Swiss-Prot
    J3KQ83, P18859
    UniProtKB/TrEMBL
    Q6IB54, Q6NZ59
    Related
    ENSP00000382962.3, ENST00000400090.7
    Conserved Domains (1) summary
    pfam05511
    Location:1 → 96
    ATP-synt_F6; Mitochondrial ATP synthase coupling factor 6

  3. NM_001003701.2 → NP_001003701.1  ATP synthase-coupling factor 6, mitochondrial isoform b precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and the 5' coding region, compared to variant 1. The predicted isoform (b) is longer, and it contains a distinct N-terminus, compared to isoform a. The translation initiation site for this transcript is inferred.
    Source sequence(s)
    AI085837, BC001178, BC066310, BI093033
    Consensus CDS
    CCDS46637.1
    UniProtKB/TrEMBL
    Q6NZ59
    Related
    ENSP00000389649.2, ENST00000457143.6
    Conserved Domains (1) summary
    pfam05511
    Location:9 → 104
    ATP-synt_F6; Mitochondrial ATP synthase coupling factor 6

  4. NM_001003703.2 → NP_001003703.1  ATP synthase-coupling factor 6, mitochondrial isoform a precursor

    See identical proteins and their annotated locations for NP_001003703.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, 3, 4, 6 and 7 encode the same isoform (a).
    Source sequence(s)
    AI085837, BC001178, BC066310, BQ268216
    Consensus CDS
    CCDS13574.1
    UniProtKB/Swiss-Prot
    J3KQ83, P18859
    UniProtKB/TrEMBL
    Q6IB54, Q6NZ59
    Related
    ENSP00000284971.3, ENST00000284971.8
    Conserved Domains (1) summary
    pfam05511
    Location:1 → 96
    ATP-synt_F6; Mitochondrial ATP synthase coupling factor 6

  5. NM_001320266.2 → NP_001307195.1  ATP synthase-coupling factor 6, mitochondrial isoform a precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, 4, 6 and 7 encode the same isoform (a).
    Source sequence(s)
    AA364611, AI085837, BQ268216, HY146471
    Consensus CDS
    CCDS13574.1
    UniProtKB/Swiss-Prot
    J3KQ83, P18859
    UniProtKB/TrEMBL
    Q6IB54, Q6NZ59
    Related
    ENSP00000382966.1, ENST00000400094.5
    Conserved Domains (1) summary
    pfam05511
    Location:1 → 96
    ATP-synt_F6; Mitochondrial ATP synthase coupling factor 6

  6. NM_001320267.2 → NP_001307196.1  ATP synthase-coupling factor 6, mitochondrial isoform a precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, 4, 6 and 7 encode the same isoform (a).
    Source sequence(s)
    AI085837, BQ268216, CN260182, HY146471
    Consensus CDS
    CCDS13574.1
    UniProtKB/Swiss-Prot
    J3KQ83, P18859
    UniProtKB/TrEMBL
    Q6IB54, Q6NZ59
    Conserved Domains (1) summary
    pfam05511
    Location:1 → 96
    ATP-synt_F6; Mitochondrial ATP synthase coupling factor 6

  7. NM_001685.5 → NP_001676.2  ATP synthase-coupling factor 6, mitochondrial isoform a precursor

    See identical proteins and their annotated locations for NP_001676.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, 4, 6 and 7 encode the same isoform (a).
    Source sequence(s)
    AI085837, BC001178, BC066310
    Consensus CDS
    CCDS13574.1
    UniProtKB/Swiss-Prot
    J3KQ83, P18859
    UniProtKB/TrEMBL
    Q6IB54, Q6NZ59
    Related
    ENSP00000382965.3, ENST00000400093.3
    Conserved Domains (1) summary
    pfam05511
    Location:1 → 96
    ATP-synt_F6; Mitochondrial ATP synthase coupling factor 6

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_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    25724500..25735653 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    24082042..24093216 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P18859.1 GenPept UniProtKB/Swiss-Prot:P18859

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