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    ATP5MC3 ATP synthase membrane subunit c locus 3 [ Homo sapiens (human) ]

    Gene ID: 518, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ATP5MC3provided by HGNC
    Official Full Name
    ATP synthase membrane subunit c locus 3provided by HGNC
    Primary source
    HGNC:HGNC:843
    See related
    Ensembl:ENSG00000154518 MIM:602736; AllianceGenome:HGNC:843
    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
    P3; ATP5G3; DYTSPG
    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 different proteins have been identified. [provided by RefSeq, Jun 2010]
    Expression
    Ubiquitous expression in heart (RPKM 80.5), duodenum (RPKM 51.7) and 24 other tissues See more
    Orthologs
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    Genomic context

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    Location:
    2q31.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (175176258..175181710, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (175665044..175670493, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (176040986..176046438, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak3937 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:175921111-175921658 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:175921659-175922204 Neighboring gene ribosomal protein L21 pseudogene 31 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:175930185-175930417 Neighboring gene MPRA-validated peak3938 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:175972107-175973047 Neighboring gene activating transcription factor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12133 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16787 Neighboring gene ribosomal protein S15a pseudogene 14 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12134 Neighboring gene microRNA 933 Neighboring gene MPRA-validated peak3940 silencer Neighboring gene uncharacterized LOC105373752 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:176328833-176329307

    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. Persistence of the mitochondrial permeability transition in the absence of subunit c of human ATP synthase. He J, et al. Proc Natl Acad Sci U S A, 2017 Mar 28. PMID 28289229, Free PMC Article
    2. Sequences of members of the human gene family for the c subunit of mitochondrial ATP synthase. Dyer MR, et al. Biochem J, 1993 Jul 1. PMID 8328972, Free PMC Article
    3. Sequence analysis and mapping of a novel human mitochondrial ATP synthase subunit 9 cDNA (ATP5G3). Yan WL, et al. Genomics, 1994 Nov 15. PMID 7698763
    4. Human liver cDNA clones encoding proteolipid subunit 9 of the mitochondrial ATPase complex. Farrell LB, et al. Biochem Biophys Res Commun, 1987 May 14. PMID 2883974
    5. TMEM70 and TMEM242 help to assemble the rotor ring of human ATP synthase and interact with assembly factors for complex I. Carroll J, et al. Proc Natl Acad Sci U S A, 2021 Mar 30. PMID 33753518, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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

    Associated conditions

    Description Tests
    Dystonia, early-onset, and/or spastic paraplegia
    MedGen: C5562051 OMIM: 619681 GeneReviews: Not available
    		not available

    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

    Clone Names

    • MGC125738

    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 outer membrane TAS
    Traceable Author Statement
    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
    		  

    General protein information

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    Preferred Names
    ATP synthase F(0) complex subunit C3, mitochondrial
    Names
    ATP synthase lipid-binding protein, mitochondrial
    ATP synthase proteolipid P3
    ATP synthase proton-transporting mitochondrial F(0) complex subunit C3
    ATP synthase subunit 9
    ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9)
    ATP synthase, H+ transporting, mitochondrial Fo complex subunit C3 (subunit 9)
    ATP synthase, mitochondrial, C subunit-3
    ATPase protein 9
    ATPase subunit C
    dicyclohexylcarbodiimide (DCCD)-reactive proteolipid subunit

    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_001002258.5 → NP_001002258.1  ATP synthase F(0) complex subunit C3, mitochondrial isoform A precursor

      See identical proteins and their annotated locations for NP_001002258.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has multiple differences in the presence and absence of intron sequences at the 5' and 3' ends, compared to variant 4. These differences result in a protein (isoform A) with a longer C-terminus, compared to isoform B. Variants 2 and 3 encode the same protein.
      Source sequence(s)
      AC096649, AW025164, U09813
      Consensus CDS
      CCDS2263.1
      UniProtKB/Swiss-Prot
      B2R4Z0, D3DPF0, P48201, Q4ZFX7
      UniProtKB/TrEMBL
      Q6LEU9
      Related
      ENSP00000376324.3, ENST00000392541.3
      Conserved Domains (1) summary
      MTH00222
      Location:68 → 142
      ATP9; ATP synthase F0 subunit 9; Provisional

    2. NM_001190329.2 → NP_001177258.1  ATP synthase F(0) complex subunit C3, mitochondrial isoform B precursor

      See identical proteins and their annotated locations for NP_001177258.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents the longest transcript but encodes a shorter protein (isoform B), compared to isoform A. Isoform B is predicted to lack a complete ATP synthase subunit C domain.
      Source sequence(s)
      AC096649, AW025164, BF210704, BI765737
      Conserved Domains (1) summary
      cl00466
      Location:68 → 105
      ATP-synt_C; ATP synthase subunit C

    3. NM_001689.5 → NP_001680.1  ATP synthase F(0) complex subunit C3, mitochondrial isoform A precursor

      See identical proteins and their annotated locations for NP_001680.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an additional intron sequence in its 3' end, compared to variant 4. This difference results in a protein (isoform A) with a longer C-terminus, compared to isoform B. Variants 2 and 3 encode the same protein.
      Source sequence(s)
      AC096649, AW025164, BC106881, BF210704, BI756002
      Consensus CDS
      CCDS2263.1
      UniProtKB/Swiss-Prot
      B2R4Z0, D3DPF0, P48201, Q4ZFX7
      UniProtKB/TrEMBL
      Q6LEU9
      Related
      ENSP00000284727.4, ENST00000284727.9
      Conserved Domains (1) summary
      MTH00222
      Location:68 → 142
      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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      175176258..175181710 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      175665044..175670493 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001002256.1: Suppressed sequence

      Description
      NM_001002256.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P48201.1 GenPept UniProtKB/Swiss-Prot:P48201

    Gene LinkOut

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

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