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ATP5MC2 ATP synthase membrane subunit c locus 2 [ Homo sapiens (human) ]

Gene ID: 517, updated on 5-Mar-2024

Summary

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Official Symbol
ATP5MC2provided by HGNC
Official Full Name
ATP synthase membrane subunit c locus 2provided by HGNC
Primary source
HGNC:HGNC:842
See related
Ensembl:ENSG00000135390 MIM:603193; AllianceGenome:HGNC:842
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; ATP5G2
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 single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). There are three separate genes which encode subunit c of the proton channel and they specify precursors with different import sequences but identical mature proteins. The protein encoded by this gene is one of three precursors of subunit c. This gene has multiple pseudogenes. [provided by RefSeq, Jan 2018]
Expression
Ubiquitous expression in heart (RPKM 34.1), ovary (RPKM 32.8) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
12q13.13
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (53665170..53681423, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (53631253..53647563, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (54058954..54070114, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L31 pseudogene 51 Neighboring gene uncharacterized LOC124902938 Neighboring gene Sharpr-MPRA regulatory region 12722 Neighboring gene Sharpr-MPRA regulatory region 2395 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6427 Neighboring gene Sharpr-MPRA regulatory region 7415 Neighboring gene calcium binding and coiled-coil domain 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:54118812-54120011 Neighboring gene uncharacterized LOC105369774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:54133003-54133792 Neighboring gene CALCOCO1-CISTR intergenic nontranscribed DNase I hypersensitive site-defined enhancer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:54141521-54142049 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:54142050-54142577 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:54144138-54144726 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4517 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4518 Neighboring gene chondrogenesis-associated transcript

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. 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
  2. The expression of subunit c correlates with and thus may limit the biosynthesis of the mitochondrial F0F1-ATPase in brown adipose tissue. Houstĕk J, et al. J Biol Chem, 1995 Mar 31. PMID 7706317
  3. 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
  4. 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
  5. 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

See all (27) 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

EBI GWAS Catalog

Description
A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
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 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 C2, mitochondrial
Names
ATP synthase c subunit
ATP synthase lipid-binding protein, mitochondrial
ATP synthase proteolipid P2
ATP synthase proton-transporting mitochondrial F(0) complex subunit C2
ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9)
ATP synthase, H+ transporting, mitochondrial Fo complex subunit C2 (subunit 9)
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_001002031.4 → NP_001002031.1  ATP synthase F(0) complex subunit C2, mitochondrial isoform a precursor

    See identical proteins and their annotated locations for NP_001002031.1

    Status: REVIEWED

    Source sequence(s)
    AA748100, AK130971, BG217012
    Consensus CDS
    CCDS31812.1
    UniProtKB/Swiss-Prot
    Q06055
    Related
    ENSP00000499883.1, ENST00000673498.1
    Conserved Domains (1) summary
    MTH00222
    Location:83 → 157
    ATP9; ATP synthase F0 subunit 9; Provisional

  2. NM_001330269.2 → NP_001317198.1  ATP synthase F(0) complex subunit C2, mitochondrial isoform c precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript. Variants 2 and 3 encode the same isoform (c).
    Source sequence(s)
    AC073594, AV737582, D13119, H83751
    Consensus CDS
    CCDS81694.1
    UniProtKB/Swiss-Prot
    B3KQQ6, Q06055
    Conserved Domains (1) summary
    MTH00222
    Location:67 → 141
    ATP9; ATP synthase F0 subunit 9; Provisional

  3. NM_001369753.1 → NP_001356682.1  ATP synthase F(0) complex subunit C2, mitochondrial isoform c precursor

    Status: REVIEWED

    Source sequence(s)
    AC073594
    Consensus CDS
    CCDS81694.1
    UniProtKB/Swiss-Prot
    B3KQQ6, Q06055
    Conserved Domains (1) summary
    MTH00222
    Location:67 → 141
    ATP9; ATP synthase F0 subunit 9; Provisional

  4. NM_001369754.1 → NP_001356683.1  ATP synthase F(0) complex subunit C2, mitochondrial isoform c precursor

    Status: REVIEWED

    Source sequence(s)
    AC073594
    Consensus CDS
    CCDS81694.1
    UniProtKB/Swiss-Prot
    B3KQQ6, Q06055
    Related
    ENSP00000448801.2, ENST00000552242.5
    Conserved Domains (1) summary
    MTH00222
    Location:67 → 141
    ATP9; ATP synthase F0 subunit 9; Provisional

  5. NM_001369755.1 → NP_001356684.1  ATP synthase F(0) complex subunit C2, mitochondrial isoform c precursor

    Status: REVIEWED

    Source sequence(s)
    AC073594
    Consensus CDS
    CCDS81694.1
    UniProtKB/Swiss-Prot
    B3KQQ6, Q06055
    Related
    ENSP00000447317.1, ENST00000549164.5
    Conserved Domains (1) summary
    MTH00222
    Location:67 → 141
    ATP9; ATP synthase F0 subunit 9; Provisional

  6. NM_001369756.1 → NP_001356685.1  ATP synthase F(0) complex subunit C2, mitochondrial isoform d

    Status: REVIEWED

    Source sequence(s)
    AC073594
    UniProtKB/TrEMBL
    E7EQ97
    Conserved Domains (1) summary
    MTH00222
    Location:29 → 103
    ATP9; ATP synthase F0 subunit 9; Provisional

  7. NM_001369757.1 → NP_001356686.1  ATP synthase F(0) complex subunit C2, mitochondrial isoform e

    Status: REVIEWED

    Source sequence(s)
    AC073594
    Conserved Domains (1) summary
    cl00466
    Location:106 → 143
    ATP-synt_C; ATP synthase subunit C

  8. NM_001369758.1 → NP_001356687.1  ATP synthase F(0) complex subunit C2, mitochondrial isoform f precursor

    Status: REVIEWED

    Source sequence(s)
    AC073594
    Conserved Domains (1) summary
    MTH00222
    Location:65 → 139
    ATP9; ATP synthase F0 subunit 9; Provisional

  9. NM_005176.7 → NP_005167.3  ATP synthase F(0) complex subunit C2, mitochondrial isoform c precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and uses a downstream start codon compared to variant 1. Variants 2 and 3 encode the same isoform (c).
    Source sequence(s)
    AC073594, AK130971
    Consensus CDS
    CCDS81694.1
    UniProtKB/Swiss-Prot
    B3KQQ6, Q06055
    Related
    ENSP00000377878.5, ENST00000394349.9
    Conserved Domains (1) summary
    MTH00222
    Location:67 → 141
    ATP9; ATP synthase F0 subunit 9; Provisional

RNA

  1. NR_163135.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC073594
    Related
    ENST00000549748.2

  2. NR_163136.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC073594

  3. NR_163137.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC073594

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    53665170..53681423 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047428989.1 → XP_047284945.1  ATP synthase F(0) complex subunit C2, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    B3KQQ6, Q06055

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    53631253..53647563 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054372257.1 → XP_054228232.1  ATP synthase F(0) complex subunit C2, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    B3KQQ6, Q06055

  2. XM_054372255.1 → XP_054228230.1  ATP synthase F(0) complex subunit C2, mitochondrial isoform X2

  3. XM_054372256.1 → XP_054228231.1  ATP synthase F(0) complex subunit C2, mitochondrial isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q06055.1 GenPept UniProtKB/Swiss-Prot:Q06055

Gene LinkOut

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

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