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    ATP5MC1 ATP synthase membrane subunit c locus 1 [ Homo sapiens (human) ]

    Gene ID: 516, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ATP5MC1provided by HGNC
    Official Full Name
    ATP synthase membrane subunit c locus 1provided by HGNC
    Primary source
    HGNC:HGNC:841
    See related
    Ensembl:ENSG00000159199 MIM:603192; AllianceGenome:HGNC:841
    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
    ATP5A; ATP5G; ATP5G1
    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 seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in heart (RPKM 134.4), colon (RPKM 81.3) and 24 other tissues See more
    Orthologs
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    Genomic context

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    Location:
    17q21.32
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (48892787..48895871)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (49756527..49759610)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (46970149..46973233)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371814 Neighboring gene SUMO2 pseudogene 17 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12341 Neighboring gene small nucleolar RNA SNORA68 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:46968965-46969944 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12343 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12344 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12345 Neighboring gene ribosomal protein L37 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8662 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8663 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12346 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12347 Neighboring gene ubiquitin conjugating enzyme E2 Z Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12348

    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. A naturally occurring mutation in ATP synthase subunit c is associated with increased damage following hypoxia/reoxygenation in STEMI patients. Morciano G, et al. Cell Rep, 2021 Apr 13. PMID 33852870
    2. Novel role of ATPase subunit C targeting peptides beyond mitochondrial protein import. Vives-Bauza C, et al. Mol Biol Cell, 2010 Jan 1. PMID 19889836, Free PMC Article
    3. TMEM70 forms oligomeric scaffolds within mitochondrial cristae promoting in situ assembly of mammalian ATP synthase proton channel. Bahri H, et al. Biochim Biophys Acta Mol Cell Res, 2021 Apr. PMID 33359711
    4. The Polyadenosine RNA-binding Protein, Zinc Finger Cys3His Protein 14 (ZC3H14), Regulates the Pre-mRNA Processing of a Key ATP Synthase Subunit mRNA. Wigington CP, et al. J Biol Chem, 2016 Oct 21. PMID 27563065, Free PMC Article
    5. Molecular cloning and sequence of two cDNAs for human subunit c of H(+)-ATP synthase in mitochondria. Higuti T, et al. Biochim Biophys Acta, 1993 Apr 29. PMID 8485160

    See all (41) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A naturally occurring mutation in ATP synthase subunit c is associated with increased damage following hypoxia/reoxygenation in STEMI patients.
      Title: A naturally occurring mutation in ATP synthase subunit c is associated with increased damage following hypoxia/reoxygenation in STEMI patients.
    2. ATP5G1, ATP5G2, and ATP5G3 of the ATP synthase are not involved in forming the permeability transition pore.
      Title: Persistence of the mitochondrial permeability transition in the absence of subunit c of human ATP synthase.
    3. ATP5G1 turnover increases upon depletion of ZC3H14, double knockdown of ZC3H14 and the nonsense-mediated decay factor, UPF1, rescues ATP5G1 transcript levels. Furthermore, fractionation reveals an increase in the amount of ATP5G1 pre-mRNA that reaches the cytoplasm when ZC3H14 is depleted and that ZC3H14 binds to ATP5G1 pre-mRNA in the nucleus.
      Title: The Polyadenosine RNA-binding Protein, Zinc Finger Cys3His Protein 14 (ZC3H14), Regulates the Pre-mRNA Processing of a Key ATP Synthase Subunit mRNA.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    5. The subunit c isoforms are nonredundant, because they differ functionally by their targeting peptides, which, in addition to mediating mitochondrial protein import, play a yet undiscovered role in respiratory chain maintenance.
      Title: Novel role of ATPase subunit C targeting peptides beyond mitochondrial protein import.
    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

    EBI GWAS Catalog

    Description
    Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
    EBI GWAS Catalog

    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
    enables lipid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables proton transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    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 transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of mitochondrial proton-transporting ATP synthase complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    ATP synthase F(0) complex subunit C1, mitochondrial
    Names
    ATP synthase lipid-binding protein, mitochondrial
    ATP synthase proteolipid P1
    ATP synthase proton-transporting mitochondrial F(0) complex subunit C1
    ATP synthase subunit 9
    ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C1 (subunit 9)
    ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9)
    ATP synthase, H+ transporting, mitochondrial Fo complex subunit C1 (subunit 9)
    ATPase protein 9
    ATPase subunit 9
    ATPase subunit C
    dicyclohexylcarbodiimide (DCCD)-reactive proteolipid subunit
    mitochondrial ATP synthase, subunit 9
    mitochondrial ATP synthase, subunit C

    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_001002027.2 → NP_001002027.1  ATP synthase F(0) complex subunit C1, mitochondrial precursor

      See identical proteins and their annotated locations for NP_001002027.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC091133
      Consensus CDS
      CCDS11539.1
      UniProtKB/Swiss-Prot
      P05496
      UniProtKB/TrEMBL
      E7EPU7, Q6FIH7
      Related
      ENSP00000348205.5, ENST00000355938.9
      Conserved Domains (1) summary
      MTH00222
      Location:62 → 136
      ATP9; ATP synthase F0 subunit 9; Provisional

    2. NM_005175.3 → NP_005166.1  ATP synthase F(0) complex subunit C1, mitochondrial precursor

      See identical proteins and their annotated locations for NP_005166.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC091133
      Consensus CDS
      CCDS11539.1
      UniProtKB/Swiss-Prot
      P05496
      UniProtKB/TrEMBL
      E7EPU7, Q6FIH7
      Related
      ENSP00000377033.2, ENST00000393366.7
      Conserved Domains (1) summary
      MTH00222
      Location:62 → 136
      ATP9; ATP synthase F0 subunit 9; Provisional

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      48892787..48895871
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      49756527..49759610
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P05496.2 GenPept UniProtKB/Swiss-Prot:P05496

    Gene LinkOut

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

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