U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 509, updated on 7-Apr-2024

Summary

Go to the top of the page Help
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
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See ATP5F1C in Genome Data Viewer
Location:
10p14
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (7788177..7807801)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (7788947..7808583)
105.20220307 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. 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
  2. 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
  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. Mechanically driven ATP synthesis by F1-ATPase. Itoh H, et al. Nature, 2004 Jan 29. PMID 14749837

See all (174) 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

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

Go to the top of the page Help

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

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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
  
part_of mitochondrial proton-transporting ATP synthase complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of mitochondrial proton-transporting ATP synthase complex NAS
Non-traceable Author Statement
more info
 PubMed 
part_of mitochondrial proton-transporting ATP synthase complex, catalytic sector F(1) IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of mitochondrial proton-transporting ATP synthase complex, catalytic sector F(1) NAS
Non-traceable Author Statement
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 

General protein information

Go to the top of the page Help
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)

Go to the top of the page Help

NEW Try the new Transcript table

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_2023_10

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

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

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

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

Gene LinkOut

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

Other Literature Sources
Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous