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 c... See more...

Aliases for ATP5F1C Gene

Aliases for ATP5F1C Gene

  • ATP Synthase F1 Subunit Gamma 2 3 4 5
  • ATP Synthase, H+ Transporting, Mitochondrial F1 Complex, Gamma Polypeptide 1 2 3
  • ATP Synthase Subunit Gamma, Mitochondrial 3 4
  • F-ATPase Gamma Subunit 3 4
  • ATP5CL1 3 4
  • ATP5C1 3 4
  • ATP5C 3 4
  • Mitochondrial ATP Synthase, Gamma Subunit 1 3
  • ATP Synthase Gamma Chain, Mitochondrial 3

External Ids for ATP5F1C Gene

Previous HGNC Symbols for ATP5F1C Gene

  • ATP5CL1
  • ATP5C
  • ATP5C1

Summaries for ATP5F1C Gene

Entrez Gene Summary for ATP5F1C Gene

  • 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]

GeneCards Summary for ATP5F1C Gene

ATP5F1C (ATP Synthase F1 Subunit Gamma) is a Protein Coding gene. Diseases associated with ATP5F1C include Intermittent Squint and Alzheimer Disease. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and purine nucleotides de novo biosynthesis.

UniProtKB/Swiss-Prot Summary for ATP5F1C Gene

  • Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(1) domain and the central stalk which is part of the complex rotary element. The gamma subunit protrudes into the catalytic domain formed of alpha(3)beta(3). Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits.

Gene Wiki entry for ATP5F1C Gene

Additional gene information for ATP5F1C Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP5F1C Gene

Genomics for ATP5F1C Gene

GeneHancer (GH) Regulatory Elements for ATP5F1C Gene

Promoters and enhancers for ATP5F1C Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J007786 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 515.5 +0.5 506 4.5 ZBTB40 ZNF217 ZSCAN5C SIN3A NRF1 POLR2G PHF8 ZFX REST POLR2A KIN ATP5F1C ITIH2 lnc-KIN-5
GH10J007817 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 15.2 +30.7 30671 2.8 RXRA EP300 HNRNPK ZBTB40 ZNF217 CTCF SIN3A NRF1 TCF12 POLR2G TAF3 lnc-KIN-12 ATP5F1C KIN ITIH2 lnc-KIN-6 ENSG00000233990
GH10J007665 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.8 -121.4 -121422 3 ZIC2 ZBTB10 ZBTB26 EZH2 KLF9 SP2 RAD21 PHF8 ZBTB11 GABPB1 ITIH5 ATP5F1C piR-57137-004
GH10J007763 Enhancer 0.6 Ensembl 12.7 -23.9 -23929 1.2 ZNF316 TRIM24 CEBPG NFE2 MAFK ATF4 ETV1 ELF4 KDM1A ELF1 KIN ATP5F1C piR-35674-035
GH10J007823 Enhancer 0.3 Ensembl 21.8 +36.0 35971 0.6 ZNF524 ATP5F1C KIN ITIH2 ENSG00000233990 lnc-KIN-6 TAF3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP5F1C on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP5F1C

Genomic Locations for ATP5F1C Gene

Genomic Locations for ATP5F1C Gene
chr10:7,788,130-7,807,815
(GRCh38/hg38)
Size:
19,686 bases
Orientation:
Plus strand
chr10:7,830,092-7,849,778
(GRCh37/hg19)
Size:
19,687 bases
Orientation:
Plus strand

Genomic View for ATP5F1C Gene

Genes around ATP5F1C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP5F1C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP5F1C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP5F1C Gene

Proteins for ATP5F1C Gene

  • Protein details for ATP5F1C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P36542-ATPG_HUMAN
    Recommended name:
    ATP synthase subunit gamma, mitochondrial
    Protein Accession:
    P36542
    Secondary Accessions:
    • A8KA31
    • Q5VYP3
    • Q6I9V2
    • Q96AS8

    Protein attributes for ATP5F1C Gene

    Size:
    298 amino acids
    Molecular mass:
    32996 Da
    Quaternary structure:
    • F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(1) has five subunits: alpha(3), beta(3), gamma(1), delta(1), epsilon(1). CF(0) has three main subunits: a, b and c. Component of an ATP synthase complex composed of ATP5PB, ATP5MC1, ATP5F1E, ATP5PD, ATP5ME, ATP5PF, ATP5MF, MT-ATP6, MT-ATP8, ATP5F1A, ATP5F1B, ATP5F1D, ATP5F1C, ATP5PO, ATP5MG, ATP5MD and ATP5MPL (By similarity).

    Alternative splice isoforms for ATP5F1C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP5F1C Gene

Post-translational modifications for ATP5F1C Gene

  • Ubiquitination at Lys49, Lys55, Lys112, Lys136, and Lys270
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP5F1C Gene

No data available for DME Specific Peptides for ATP5F1C Gene

Domains & Families for ATP5F1C Gene

Gene Families for ATP5F1C Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for ATP5F1C Gene

Blocks:
  • H+-transporting two-sector ATPase, gamma subunit
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ATP5F1C Gene

GenScript: Design optimal peptide antigens:
  • F-ATPase gamma subunit (ATPG_HUMAN)
  • ATP synthase gamma chain (B4DL14_HUMAN)
  • ATP synthase gamma chain (Q6I9V2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P36542

UniProtKB/Swiss-Prot:

ATPG_HUMAN :
  • Belongs to the ATPase gamma chain family.
Family:
  • Belongs to the ATPase gamma chain family.
genes like me logo Genes that share domains with ATP5F1C: view

Function for ATP5F1C Gene

Molecular function for ATP5F1C Gene

UniProtKB/Swiss-Prot Function:
Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(1) domain and the central stalk which is part of the complex rotary element. The gamma subunit protrudes into the catalytic domain formed of alpha(3)beta(3). Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits.

Phenotypes From GWAS Catalog for ATP5F1C Gene

Gene Ontology (GO) - Molecular Function for ATP5F1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0016887 contributes_to ATPase activity NAS 8227057
GO:0022857 transmembrane transporter activity IC 12110673
GO:0046933 contributes_to proton-transporting ATP synthase activity, rotational mechanism IBA 21873635
genes like me logo Genes that share ontologies with ATP5F1C: view
genes like me logo Genes that share phenotypes with ATP5F1C: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP5F1C Gene

Localization for ATP5F1C Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP5F1C Gene

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP5F1C gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for ATP5F1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000275 mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) NAS 8227057
GO:0005739 mitochondrion NAS 8227057
GO:0005743 mitochondrial inner membrane ISS --
GO:0005753 mitochondrial proton-transporting ATP synthase complex IDA 12110673
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with ATP5F1C: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATP5F1C Gene

Pathways & Interactions for ATP5F1C Gene

genes like me logo Genes that share pathways with ATP5F1C: view

Gene Ontology (GO) - Biological Process for ATP5F1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006119 oxidative phosphorylation NAS 8227057
GO:0006754 ATP biosynthetic process TAS,IBA --
GO:0006811 ion transport IEA --
GO:0015986 ATP synthesis coupled proton transport IBA 21873635
GO:0042407 cristae formation TAS --
genes like me logo Genes that share ontologies with ATP5F1C: view

No data available for SIGNOR curated interactions for ATP5F1C Gene

Drugs & Compounds for ATP5F1C Gene

(7) Drugs for ATP5F1C Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
1-ACETYL-2-CARBOXYPIPERIDINE Experimental Pharma Target 0
AUROVERTIN B Experimental Pharma Target 0
N1-(2-AMINO-4-METHYLPENTYL)OCTAHYDRO-PYRROLO[1,2-A] PYRIMIDINE Experimental Pharma Target 0
piceatannol Experimental Pharma Target p56lck/Syk inhibitor 0

(2) Additional Compounds for ATP5F1C Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with ATP5F1C: view

Transcripts for ATP5F1C Gene

mRNA/cDNA for ATP5F1C Gene

3 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP5F1C Gene

No ASD Table

Relevant External Links for ATP5F1C Gene

GeneLoc Exon Structure for
ATP5F1C

Expression for ATP5F1C Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP5F1C

mRNA Expression by UniProt/SwissProt for ATP5F1C Gene:

P36542-ATPG_HUMAN
Tissue specificity: Isoform Heart is expressed specifically in the heart and skeletal muscle, which require rapid energy supply. Isoform Liver is expressed in the brain, liver and kidney. Isoform Heart and Isoform Liver are expressed in the skin, intestine, stomach and aorta.

Evidence on tissue expression from TISSUES for ATP5F1C Gene

  • Muscle(4.7)
  • Heart(4.6)
  • Liver(4.6)
  • Nervous system(4.4)
  • Pancreas(3.4)
  • Lung(3.3)
  • Stomach(3.3)
  • Skin(3.1)
  • Blood(2.8)
  • Kidney(2.4)
  • Adrenal gland(2.2)
  • Eye(2.2)
  • Thyroid gland(2)

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP5F1C Gene

Orthologs for ATP5F1C Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP5F1C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP5C1 31 30
  • 99.78 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ATP5C1 30
  • 90.49 (n)
-- 31
  • 87 (a)
OneToMany
-- 31
  • 83 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia ATP5C1 31
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 90 (a)
OneToMany
-- 31
  • 87 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ATP5C1 31 30
  • 87.58 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Atp5c1 17 31 30
  • 87.47 (n)
rat
(Rattus norvegicus)
Mammalia Atp5c1 30
  • 85.35 (n)
chicken
(Gallus gallus)
Aves ATP5C1 31 30
  • 78 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP5C1 31
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp5c1 30
  • 75.11 (n)
Str.4048 30
zebrafish
(Danio rerio)
Actinopterygii atp5c1 31 30
  • 71 (n)
OneToOne
wufk34c05 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8471 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007966 30
  • 57.54 (n)
fruit fly
(Drosophila melanogaster)
Insecta ATPsyn-gamma 31 30
  • 57.39 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_Y69A2AR.18 30
  • 59.12 (n)
Y69A2AR.18 31
  • 41 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B06886g 30
  • 54.53 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ATP3 33 31 30
  • 52.45 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL176W 30
  • 50.49 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ATP3 30
  • 50.92 (n)
rice
(Oryza sativa)
Liliopsida Os10g0320400 30
  • 50.78 (n)
Os.10703 30
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes atp3 30
  • 50.06 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4089 31
  • 50 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU09119 30
  • 49.81 (n)
Species where no ortholog for ATP5F1C was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATP5F1C Gene

ENSEMBL:
Gene Tree for ATP5F1C (if available)
TreeFam:
Gene Tree for ATP5F1C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATP5F1C: view image

Paralogs for ATP5F1C Gene

Pseudogenes.org Pseudogenes for ATP5F1C Gene

genes like me logo Genes that share paralogs with ATP5F1C: view

No data available for Paralogs for ATP5F1C Gene

Variants for ATP5F1C Gene

Additional dbSNP identifiers (rs#s) for ATP5F1C Gene

Structural Variations from Database of Genomic Variants (DGV) for ATP5F1C Gene

Variant ID Type Subtype PubMed ID
esv2671165 CNV deletion 23128226
esv3622277 CNV loss 21293372
nsv549933 CNV gain 21841781

Variation tolerance for ATP5F1C Gene

Residual Variation Intolerance Score: 28.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.66; 14.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP5F1C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP5F1C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP5F1C Gene

Disorders for ATP5F1C Gene

MalaCards: The human disease database

(2) MalaCards diseases for ATP5F1C Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
intermittent squint
  • intermittent heterotropia
alzheimer disease
  • ad
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATP5F1C

genes like me logo Genes that share disorders with ATP5F1C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATP5F1C Gene

Publications for ATP5F1C Gene

  1. Gene structure of human mitochondrial ATP synthase gamma-subunit. Tissue specificity produced by alternative RNA splicing. (PMID: 8227057) Matsuda C … Kagawa Y (The Journal of biological chemistry 1993) 2 3 4 23 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  3. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 54
  4. Chromosomal localization of genes required for the terminal steps of oxidative metabolism: alpha and gamma subunits of ATP synthase and the phosphate carrier. (PMID: 8168843) Jabs EW … Pedersen PL (Human genetics 1994) 2 3 54
  5. Loss of ER retention motif of AGR2 can impact mTORC signaling and promote cancer metastasis. (PMID: 30575818) Tiemann K … Kani K (Oncogene 2019) 3 54

Products for ATP5F1C Gene

Sources for ATP5F1C Gene