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    ATP5F1C ATP synthase F1 subunit gamma [ Homo sapiens (human) ]

    Gene ID: 509, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ATP5F1Cprovided by HGNC
    Official Full Name
    ATP synthase F1 subunit gammaprovided by HGNC
    Primary source
    HGNC:HGNC:833
    See related
    Ensembl:ENSG00000165629 MIM:108729; AllianceGenome:HGNC:833
    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
    ATP5C; ATP5C1; ATP5CL1
    Summary
    This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing 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 gamma subunit of the catalytic core. Alternatively spliced transcript variants encoding different isoforms have been identified. This gene also has a pseudogene on chromosome 14. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in heart (RPKM 224.0), adrenal (RPKM 140.8) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See ATP5F1C in Genome Data Viewer
    Location:
    10p14
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (7788177..7807801)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (7788947..7808583)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (7830140..7849764)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene inter-alpha-trypsin inhibitor heavy chain 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:7809082-7809283 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2981 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:7830681-7831224 Neighboring gene Kin17 DNA and RNA binding protein Neighboring gene uncharacterized LOC105376392 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:7860144-7860662 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:7860663-7861180 Neighboring gene TATA-box binding protein associated factor 3 Neighboring gene Sharpr-MPRA regulatory region 6244 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:8003953-8004117 Neighboring gene Sharpr-MPRA regulatory region 13617 Neighboring gene uncharacterized LOC105376394

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Gene structure of human mitochondrial ATP synthase gamma-subunit. Tissue specificity produced by alternative RNA splicing. Matsuda C, et al. J Biol Chem, 1993 Nov 25. PMID 8227057
    2. Muscle-specific exonic splicing silencer for exon exclusion in human ATP synthase gamma-subunit pre-mRNA. Hayakawa M, et al. J Biol Chem, 2002 Mar 1. PMID 11744705
    3. Role of the mitochondrial ATP synthase central stalk subunits γ and δ in the activity and assembly of the mammalian enzyme. Pecina P, et al. Biochim Biophys Acta Bioenerg, 2018 May. PMID 29499186
    4. Tissue-specific splicing regulator Fox-1 induces exon skipping by interfering E complex formation on the downstream intron of human F1gamma gene. Fukumura K, et al. Nucleic Acids Res, 2007. PMID 17686786, Free PMC Article
    5. F1-ATPase is a highly efficient molecular motor that rotates with discrete 120 degree steps. Yasuda R, et al. Cell, 1998 Jun 26. PMID 9657145

    See all (211) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Both gamma and delta subunits silenced cells displayed decreased ATP synthase function - lowered rate of ADP-stimulated respiration, a two-fold increased sensitivity of respiration to inhibitor oligomycin, and impaired utilization of mitochondrial membrane potential for ADP phosphorylation.
      Title: Role of the mitochondrial ATP synthase central stalk subunits γ and δ in the activity and assembly of the mammalian enzyme.
    2. Studies indicate that F1-ATPase (F1) is a rotary motor protein driven by ATP hydrolysis and the minimum complex of F1 for function as a rotary motor is the alpha3beta3gamma subcomplex.
      Title: Chemomechanical coupling mechanism of F(1)-ATPase: catalysis and torque generation.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    4. A report on the mechanism of exon skipping regulated by Fox-1, using the hF1gamma gene as a model system.
      Title: Tissue-specific splicing regulator Fox-1 induces exon skipping by interfering E complex formation on the downstream intron of human F1gamma gene.
    5. These results demonstrated that the 5'-AGUUCCA-3' immediately downstream from ESE is a muscle-specific exonic splicing silencer (MS-ESS) responsible for exclusion of exon 9 in vivo and in vitro
      Title: Muscle-specific exonic splicing silencer for exon exclusion in human ATP synthase gamma-subunit pre-mRNA.
    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)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify subunit gamma 1 of mitochondrial ATP synthase F1 complex (ATP5C1), 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 subunit gamma 1 of mitochondrial ATP synthase F1 complex (ATP5C1), 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 subunit gamma 1 of mitochondrial ATP synthase F1 complex (ATP5C1), 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 subunit gamma 1 of mitochondrial ATP synthase F1 complex (ATP5C1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    capsid gag The interaction of HIV-1 CA with human cellular ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 (ATP5C1) is identified by yeast two-hybrid screen 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
    contributes_to ATP hydrolysis activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables RNA binding HDA PubMed 
    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 
    Process Evidence Code Pubs
    involved_in ATP biosynthetic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in oxidative phosphorylation NAS
    Non-traceable Author Statement
    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
    		  
    Component Evidence Code Pubs
    located_in membrane HDA PubMed 
    located_in mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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 HTP PubMed 
    located_in mitochondrion IC
    Inferred by Curator
    more info
    		 PubMed 
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrion NAS
    Non-traceable Author Statement
    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) NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ATP synthase subunit gamma, mitochondrial
    Names
    ATP synthase gamma chain, mitochondrial
    ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1
    F-ATPase gamma subunit
    mitochondrial ATP synthase, gamma subunit 1
    NP_001001973.1
    NP_001307815.1
    NP_005165.1
    XP_016871779.1
    XP_047281210.1
    XP_054221942.1
    XP_054221943.1

    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_001001973.3 → NP_001001973.1  ATP synthase subunit gamma, mitochondrial isoform L (liver) precursor

      See identical proteins and their annotated locations for NP_001001973.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript, and encodes the longest isoform (L), also known as a liver type isoform.
      Source sequence(s)
      BC026049, BQ893894, D16562
      Consensus CDS
      CCDS31142.1
      UniProtKB/Swiss-Prot
      A8KA31, P36542, Q5VYP3, Q6I9V2, Q96AS8
      UniProtKB/TrEMBL
      Q8TAS0
      Related
      ENSP00000349142.7, ENST00000356708.12
      Conserved Domains (1) summary
      TIGR01146
      Location:26 → 297
      ATPsyn_F1gamma; ATP synthase, F1 gamma subunit

    2. NM_001320886.2 → NP_001307815.1  ATP synthase subunit gamma, mitochondrial isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) encodes isoform 3, which lacks a mitochondrial transit peptide compared to isoforms L and H.
      Source sequence(s)
      BC026049, BI603806
      UniProtKB/TrEMBL
      Q8TAS0
      Related
      ENST00000493053.5
      Conserved Domains (1) summary
      TIGR01146
      Location:1 → 250
      ATPsyn_F1gamma; ATP synthase, F1 gamma subunit

    3. NM_005174.4 → NP_005165.1  ATP synthase subunit gamma, mitochondrial isoform H (heart) precursor

      See identical proteins and their annotated locations for NP_005165.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks a segment in the coding region compared to variant 1. The resulting isoform (H), also known as a heart type isoform, contains a shorter and distinct C-terminus compared to isoform L.
      Source sequence(s)
      BC026049, BQ893894, D16563
      Consensus CDS
      CCDS7081.1
      UniProtKB/TrEMBL
      Q8TAS0
      Related
      ENSP00000338568.4, ENST00000335698.4
      Conserved Domains (1) summary
      TIGR01146
      Location:26 → 297
      ATPsyn_F1gamma; ATP synthase, F1 gamma subunit

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      7788177..7807801
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017016290.2 → XP_016871779.1  ATP synthase subunit gamma, mitochondrial isoform X2

      UniProtKB/TrEMBL
      B4DL14, Q8TAS0
      Conserved Domains (1) summary
      TIGR01146
      Location:1 → 250
      ATPsyn_F1gamma; ATP synthase, F1 gamma subunit

    2. XM_047425254.1 → XP_047281210.1  ATP synthase subunit gamma, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      A8KA31, P36542, Q5VYP3, Q6I9V2, Q96AS8
      UniProtKB/TrEMBL
      Q8TAS0

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      7788947..7808583
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365968.1 → XP_054221943.1  ATP synthase subunit gamma, mitochondrial isoform X2

      UniProtKB/TrEMBL
      B4DL14, Q8TAS0

    2. XM_054365967.1 → XP_054221942.1  ATP synthase subunit gamma, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      A8KA31, P36542, Q5VYP3, Q6I9V2, Q96AS8
      UniProtKB/TrEMBL
      Q8TAS0
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P36542.1 GenPept UniProtKB/Swiss-Prot:P36542

    Gene LinkOut

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