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 ATP5MC3 Gene

Aliases for ATP5MC3 Gene

  • ATP Synthase Membrane Subunit C Locus 3 2 3 4 5
  • ATP Synthase, H+ Transporting, Mitochondrial F0 Complex, Subunit C3 (Subunit 9) 2 3
  • ATP Synthase, H+ Transporting, Mitochondrial Fo Complex Subunit C3 (Subunit 9) 2 3
  • ATP Synthase Proton-Transporting Mitochondrial F(0) Complex Subunit C3 3 4
  • ATP Synthase F(0) Complex Subunit C3, Mitochondrial 3 4
  • ATP Synthase Proteolipid P3 3 4
  • ATP Synthase Subunit 9 2 3
  • ATPase Subunit C 3 4
  • ATPase Protein 9 3 4
  • ATP5G3 3 4
  • ATP Synthase, H+ Transporting, Mitochondrial F0 Complex, Subunit C (Subunit 9) Isoform 3 2
  • ATP Synthase, H+ Transporting, Mitochondrial Fo Complex, Subunit C3 (Subunit 9) 2
  • ATP Synthase Lipid-Binding Protein, Mitochondrial 3
  • ATP Synthase, Mitochondrial, C Subunit-3 3
  • ATP Synthase Lipid-Binding Protein 4
  • P3 3

External Ids for ATP5MC3 Gene

Previous HGNC Symbols for ATP5MC3 Gene

  • ATP5G3

Summaries for ATP5MC3 Gene

Entrez Gene Summary for ATP5MC3 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 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]

GeneCards Summary for ATP5MC3 Gene

ATP5MC3 (ATP Synthase Membrane Subunit C Locus 3) is a Protein Coding gene. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolism. An important paralog of this gene is ATP5MC2.

UniProtKB/Swiss-Prot Summary for ATP5MC3 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(0) domain. A homomeric c-ring of probably 10 subunits is part of the complex rotary element.

Gene Wiki entry for ATP5MC3 Gene

Additional gene information for ATP5MC3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP5MC3 Gene

Genomics for ATP5MC3 Gene

GeneHancer (GH) Regulatory Elements for ATP5MC3 Gene

Promoters and enhancers for ATP5MC3 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
GH02J175180 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 28.7 +3.3 3307 2.6 ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 TCF12 POLR2G SP1 NCOR1 lnc-ATF2-1 lnc-SCRN3-10 piR-59456 ATF2 ATP5MC3 HOXD9 HOXD4 CHN1 HOXD10 OLA1
GH02J175165 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 28 +17.2 17203 4.4 FOXK2 ZBTB40 ZNF217 EP300 SIN3A NRF1 POLR2G USF1 SP1 NCOR1 ATF2 ENSG00000229750 MIR933 lnc-ATF2-5 ATP5MC3 piR-56451-063
GH02J175061 Enhancer 1.1 Ensembl ENCODE 25.2 +121.9 121903 2.6 EP300 FOXK2 TCF12 POLR2G NCOR1 KDM6A TCF7 FOXA1 ZBTB25 TGIF2 lnc-ATF2-2 ATP5MC3 CHRNA1 CHN1 ATF2 ENSG00000229750 MIR933 lnc-CHN1-5
GH02J175141 Enhancer 0.5 Ensembl 26.2 +41.7 41706 2.6 RBM25 POLR2H ZNF146 CEBPB MBD1 CEBPG ZNF596 CEBPA ATP5MC3 MIR933 ATF2 ENSG00000229750 lnc-ATF2-5 piR-56451-063
GH02J175154 Enhancer 0.7 ENCODE 15.5 +29.9 29878 0.9 FOS MEF2C OSR2 BCL11A CBFB SRF MEF2B RBM22 FOSL1 EZH2 ATP5MC3 lnc-ATF2-5 MIR933 ATF2 piR-56451-063
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP5MC3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP5MC3

Genomic Locations for ATP5MC3 Gene

Genomic Locations for ATP5MC3 Gene
chr2:175,176,258-175,184,607
(GRCh38/hg38)
Size:
8,350 bases
Orientation:
Minus strand
chr2:176,040,986-176,049,335
(GRCh37/hg19)
Size:
8,350 bases
Orientation:
Minus strand

Genomic View for ATP5MC3 Gene

Genes around ATP5MC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP5MC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP5MC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP5MC3 Gene

Proteins for ATP5MC3 Gene

  • Protein details for ATP5MC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48201-AT5G3_HUMAN
    Recommended name:
    ATP synthase F(0) complex subunit C3, mitochondrial
    Protein Accession:
    P48201
    Secondary Accessions:
    • B2R4Z0
    • D3DPF0
    • Q4ZFX7

    Protein attributes for ATP5MC3 Gene

    Size:
    142 amino acids
    Molecular mass:
    14693 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.
    Miscellaneous:
    • There are three genes which encode the mitochondrial ATP synthase proteolipid and they specify precursors with different import sequences but identical mature proteins. Is the major protein stored in the storage bodies of animals or humans affected with ceroid lipofuscinosis (Batten disease).

neXtProt entry for ATP5MC3 Gene

Post-translational modifications for ATP5MC3 Gene

  • Trimethylated by ATPSCKMT at Lys-110. Methylation is required for proper incorporation of the C subunit into the ATP synthase complex and mitochondrial respiration.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATP5MC3 Gene

No data available for DME Specific Peptides for ATP5MC3 Gene

Domains & Families for ATP5MC3 Gene

Gene Families for ATP5MC3 Gene

Protein Domains for ATP5MC3 Gene

Blocks:
  • Eubacterial/plasma membrane H+-transporting two-sector ATPase, C subunit
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ATP5MC3 Gene

GenScript: Design optimal peptide antigens:
  • ATPase subunit c (AT5G3_HUMAN)
  • ATP5G3 protein (Q6LEU9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P48201

UniProtKB/Swiss-Prot:

AT5G3_HUMAN :
  • Belongs to the ATPase C chain family.
Family:
  • Belongs to the ATPase C chain family.
genes like me logo Genes that share domains with ATP5MC3: view

Function for ATP5MC3 Gene

Molecular function for ATP5MC3 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(0) domain. A homomeric c-ring of probably 10 subunits is part of the complex rotary element.

Phenotypes From GWAS Catalog for ATP5MC3 Gene

Gene Ontology (GO) - Molecular Function for ATP5MC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008289 lipid binding IEA --
GO:0015078 proton transmembrane transporter activity IEA --
GO:0046933 proton-transporting ATP synthase activity, rotational mechanism IBA 21873635
genes like me logo Genes that share ontologies with ATP5MC3: view
genes like me logo Genes that share phenotypes with ATP5MC3: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP5MC3 Gene

Localization for ATP5MC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP5MC3 Gene

Mitochondrion membrane; Multi-pass membrane protein.

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 ATP5MC3 gene
Compartment Confidence
mitochondrion 5
extracellular 2
plasma membrane 1
cytoskeleton 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for ATP5MC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000276 mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) IBA 21873635
GO:0005739 mitochondrion IEA --
GO:0005741 mitochondrial outer membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ATP5MC3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATP5MC3 Gene

Pathways & Interactions for ATP5MC3 Gene

genes like me logo Genes that share pathways with ATP5MC3: view

Gene Ontology (GO) - Biological Process for ATP5MC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006754 ATP biosynthetic process TAS --
GO:0006811 ion transport IEA --
GO:0015986 ATP synthesis coupled proton transport IBA 21873635
GO:0042407 cristae formation TAS --
GO:0042776 mitochondrial ATP synthesis coupled proton transport TAS --
genes like me logo Genes that share ontologies with ATP5MC3: view

No data available for SIGNOR curated interactions for ATP5MC3 Gene

Drugs & Compounds for ATP5MC3 Gene

(2) Drugs for ATP5MC3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(2) Additional Compounds for ATP5MC3 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 ATP5MC3: view

Transcripts for ATP5MC3 Gene

mRNA/cDNA for ATP5MC3 Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP5MC3 Gene

No ASD Table

Relevant External Links for ATP5MC3 Gene

GeneLoc Exon Structure for
ATP5MC3

Expression for ATP5MC3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP5MC3

Evidence on tissue expression from TISSUES for ATP5MC3 Gene

  • Nervous system(4.8)
  • Liver(4.4)
  • Pancreas(3.3)
  • Skin(3.2)
  • Lung(2.7)
  • Muscle(2.7)
  • Heart(2.6)
  • Kidney(2.3)
  • Intestine(2.2)
  • Stomach(2.2)
  • Adrenal gland(2)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with ATP5MC3: view

Primer Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP5MC3 Gene

Orthologs for ATP5MC3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ATP5MC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP5G3 31 30
  • 99.68 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LOC478807 30
  • 97.64 (n)
-- 31
  • 95 (a)
OneToMany
-- 31
  • 90 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Atp5g3 17 31 30
  • 95.98 (n)
cow
(Bos Taurus)
Mammalia ATP5G3 31 30
  • 95.04 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp5g3 30
  • 94.8 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 91 (a)
OneToMany
-- 31
  • 86 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia ATP5G3 31
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP5G3 31 30
  • 83.92 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 80 (a)
OneToMany
-- 31
  • 74 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia atp5g3 30
  • 81.8 (n)
Str.16904 30
zebrafish
(Danio rerio)
Actinopterygii atp5g3b 31
  • 79 (a)
OneToMany
atp5g3a 31 30
  • 71.94 (n)
OneToMany
-- 30
fruit fly
(Drosophila melanogaster)
Insecta CG1746 31
  • 63 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y82E9BR.3 31
  • 63 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes OLI1 33 31
  • 62 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10146 31
  • 73 (a)
OneToMany
Cin.4895 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4895 30
Species where no ortholog for ATP5MC3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATP5MC3 Gene

ENSEMBL:
Gene Tree for ATP5MC3 (if available)
TreeFam:
Gene Tree for ATP5MC3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATP5MC3: view image

Paralogs for ATP5MC3 Gene

Paralogs for ATP5MC3 Gene

Pseudogenes.org Pseudogenes for ATP5MC3 Gene

genes like me logo Genes that share paralogs with ATP5MC3: view

Variants for ATP5MC3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP5MC3 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
716298 Benign: not provided 175,180,161(-) T/C SYNONYMOUS_VARIANT
726025 Benign: not provided 175,180,088(-) C/T INTRON_VARIANT
rs8106 Benign: not provided 175,178,369(-) A/G SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
rs1802622 - p.Gly93Glu

Additional dbSNP identifiers (rs#s) for ATP5MC3 Gene

Structural Variations from Database of Genomic Variants (DGV) for ATP5MC3 Gene

Variant ID Type Subtype PubMed ID
nsv1012709 CNV gain 25217958
nsv3044 CNV deletion 18451855

Variation tolerance for ATP5MC3 Gene

Residual Variation Intolerance Score: 57.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.06; 21.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP5MC3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP5MC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP5MC3 Gene

Disorders for ATP5MC3 Gene

Additional Disease Information for ATP5MC3

No disorders were found for ATP5MC3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ATP5MC3 Gene

Publications for ATP5MC3 Gene

  1. Sequence analysis and mapping of a novel human mitochondrial ATP synthase subunit 9 cDNA (ATP5G3). (PMID: 7698763) Yan WL … Gusella JF (Genomics 1994) 2 3 4 23 54
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 54
  3. 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
  4. Lysine methylation by the mitochondrial methyltransferase FAM173B optimizes the function of mitochondrial ATP synthase. (PMID: 30530489) Małecki JM … Falnes PØ (The Journal of biological chemistry 2019) 4 54
  5. Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells. (PMID: 29509190) Giurato G … Tarallo R (Scientific data 2018) 3 54

Products for ATP5MC3 Gene

Sources for ATP5MC3 Gene