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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

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