Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The catalytic portion of mitochondrial ATP synthase cons... See more...

Aliases for ATP5MF Gene

Aliases for ATP5MF Gene

  • ATP Synthase Membrane Subunit F 2 3 4 5
  • ATP5JL 2 3 4
  • ATP Synthase, H+ Transporting, Mitochondrial Fo Complex Subunit F2 2 3
  • F1Fo-ATP Synthase Complex Fo Membrane Domain F Subunit 2 3
  • ATP Synthase Subunit F, Mitochondrial 3 4
  • ATP Synthase F Chain, Mitochondrial 2 3
  • F1Fo-ATPase Synthase F Subunit 2 3
  • ATP5J2 3 4
  • ATP Synthase, H+ Transporting, Mitochondrial F0 Complex, Subunit F, Isoform 2 2
  • ATP Synthase, H+ Transporting, Mitochondrial F0 Complex, Subunit F2 2
  • ATP Synthase, H+ Transporting, Mitochondrial Fo Complex, Subunit F2 2
  • ATP Synthase, H+ Transporting, Mitochondrial F0 Complex, Subunit F 3
  • F1F0-Type ATPase Subunit F 3
  • ATP5MF 5

External Ids for ATP5MF Gene

Previous HGNC Symbols for ATP5MF Gene

  • ATP5J2

Summaries for ATP5MF Gene

Entrez Gene Summary for ATP5MF Gene

  • Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The catalytic portion of mitochondrial ATP synthase consists of five 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). This gene encodes the f subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. This gene has multiple pseudogenes. Naturally occurring read-through transcription also exists between this gene and the downstream pentatricopeptide repeat domain 1 (PTCD1) gene. [provided by RefSeq, Nov 2010]

GeneCards Summary for ATP5MF Gene

ATP5MF (ATP Synthase Membrane Subunit F) is a Protein Coding gene. Diseases associated with ATP5MF include Progressive Myoclonus Epilepsy 9 and Indolent Systemic Mastocytosis. Among its related pathways are purine nucleotides de novo biosynthesis and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins..

UniProtKB/Swiss-Prot Summary for ATP5MF 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. Minor subunit located with subunit a in the membrane.

Gene Wiki entry for ATP5MF Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP5MF Gene

Genomics for ATP5MF Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATP5MF Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP5MF on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP5MF

Genomic Locations for ATP5MF Gene

Latest Assembly
chr7:99,448,475-99,466,186
(GRCh38/hg38)
Size:
17,712 bases
Orientation:
Minus strand

Previous Assembly
chr7:99,055,818-99,063,790
(GRCh37/hg19 by Entrez Gene)
Size:
7,973 bases
Orientation:
Minus strand

chr7:99,046,098-99,063,954
(GRCh37/hg19 by Ensembl)
Size:
17,857 bases
Orientation:
Minus strand

Genomic View for ATP5MF Gene

Genes around ATP5MF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP5MF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP5MF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP5MF Gene

Proteins for ATP5MF Gene

  • Protein details for ATP5MF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P56134-ATPK_HUMAN
    Recommended name:
    ATP synthase subunit f, mitochondrial
    Protein Accession:
    P56134
    Secondary Accessions:
    • C9J8H9
    • F8W7V3
    • O76079
    • Q6IBB3
    • Q96L83
    • Q9BTI8

    Protein attributes for ATP5MF Gene

    Size:
    94 amino acids
    Molecular mass:
    10918 Da
    Quaternary structure:
    • F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(0) seems to have nine subunits: a, b, c, d, e, f, g, F6 and 8 (or A6L). Component of an ATP synthase complex composed of ATP5PB, ATP5MC1, ATP5F1E, ATP5H, ATP5ME, ATP5PF, ATP5MF, MT-ATP6, MT-ATP8, ATP5F1A, ATP5F1B, ATP5F1D, ATP5F1C, ATP5PO, ATP5MG, ATP5MD and ATP5MPL (By similarity).

    Alternative splice isoforms for ATP5MF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP5MF Gene

Post-translational modifications for ATP5MF Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ATP5MF Gene

Domains & Families for ATP5MF Gene

Gene Families for ATP5MF Gene

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

Protein Domains for ATP5MF Gene

InterPro:

Suggested Antigen Peptide Sequences for ATP5MF Gene

GenScript: Design optimal peptide antigens:
  • ATP synthase subunit f, mitochondrial (ATPK_HUMAN)
  • ATP5J2 protein (Q6IBB3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P56134

UniProtKB/Swiss-Prot:

ATPK_HUMAN :
  • Belongs to the ATPase F chain family.
Family:
  • Belongs to the ATPase F chain family.
genes like me logo Genes that share domains with ATP5MF: view

Function for ATP5MF Gene

Molecular function for ATP5MF 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. Minor subunit located with subunit a in the membrane.

Phenotypes From GWAS Catalog for ATP5MF Gene

Gene Ontology (GO) - Molecular Function for ATP5MF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046933 contributes_to proton-transporting ATP synthase activity, rotational mechanism IBA,IDA 12110673
genes like me logo Genes that share ontologies with ATP5MF: view
genes like me logo Genes that share phenotypes with ATP5MF: view

miRNA for ATP5MF Gene

miRTarBase miRNAs that target ATP5MF

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP5MF

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP5MF Gene

Localization for ATP5MF Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP5MF Gene

Mitochondrion. Mitochondrion inner membrane. Single-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 ATP5MF gene
Compartment Confidence
mitochondrion 5
nucleus 4
cytosol 3
peroxisome 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nuclear membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ATP5MF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000276 mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) IEA --
GO:0005634 nucleus HDA 21630459
GO:0005739 mitochondrion IEA,IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005753 mitochondrial proton-transporting ATP synthase complex IBA,NAS 11959398
genes like me logo Genes that share ontologies with ATP5MF: view

Pathways & Interactions for ATP5MF Gene

genes like me logo Genes that share pathways with ATP5MF: view

Gene Ontology (GO) - Biological Process for ATP5MF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006754 ATP biosynthetic process TAS --
GO:0006811 ion transport IEA --
GO:0042407 cristae formation TAS --
GO:0042776 mitochondrial ATP synthesis coupled proton transport TAS --
GO:0046034 ATP metabolic process IEA --
genes like me logo Genes that share ontologies with ATP5MF: view

No data available for SIGNOR curated interactions for ATP5MF Gene

Drugs & Compounds for ATP5MF Gene

(3) Drugs for ATP5MF Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0

(1) Additional Compounds for ATP5MF 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
58-64-0
genes like me logo Genes that share compounds with ATP5MF: view

Transcripts for ATP5MF Gene

mRNA/cDNA for ATP5MF Gene

6 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP5MF

Alternative Splicing Database (ASD) splice patterns (SP) for ATP5MF Gene

No ASD Table

Relevant External Links for ATP5MF Gene

GeneLoc Exon Structure for
ATP5MF

Expression for ATP5MF Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP5MF

Evidence on tissue expression from TISSUES for ATP5MF Gene

  • Kidney(4.6)
  • Blood(4.4)
  • Nervous system(3.4)
  • Heart(3.4)
  • Muscle(3.3)
  • Intestine(3)
  • Liver(3)
  • Lung(2.9)
  • Skin(2.8)
  • Stomach(2.6)
  • Pancreas(2.4)
  • Adrenal gland(2.3)
  • Lymph node(2.2)
  • Bone marrow(2.2)
  • Thyroid gland(2.1)
  • Gall bladder(2.1)
genes like me logo Genes that share expression patterns with ATP5MF: view

Primer products for research

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 ATP5MF Gene

Orthologs for ATP5MF Gene

This gene was present in the common ancestor of chordates.

Orthologs for ATP5MF Gene

Organism Taxonomy Gene Similarity Type Details
Cow
(Bos Taurus)
Mammalia ATP5J2 29 30
  • 80.68 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Atp5j2 29 16 30
  • 80.56 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Atp5j2 29
  • 80.56 (n)
Dog
(Canis familiaris)
Mammalia LOC102151856 29
  • 80.23 (n)
-- 30
  • 80 (a)
OneToMany
-- 30
  • 78 (a)
OneToMany
-- 30
  • 76 (a)
OneToMany
-- 30
  • 72 (a)
OneToMany
-- 30
  • 69 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia ATP5J2 30
  • 64 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ATP5J2 30
  • 56 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ATP5J2 29 30
  • 70.2 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atp5j2 29
  • 61.18 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC402883 29
  • 64.02 (n)
ATP5J2 30
  • 8 (a)
OneToOne
Species where no ortholog for ATP5MF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chimpanzee (Pan troglodytes)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • 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 Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for ATP5MF Gene

ENSEMBL:
Gene Tree for ATP5MF (if available)
TreeFam:
Gene Tree for ATP5MF (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATP5MF: view image
Alliance of Genome Resources:
Additional Orthologs for ATP5MF

Paralogs for ATP5MF Gene

No data available for Paralogs for ATP5MF Gene

Variants for ATP5MF Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ATP5MF Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ATP5MF Gene

Variant ID Type Subtype PubMed ID
nsv831069 CNV loss 17160897

Variation tolerance for ATP5MF Gene

Residual Variation Intolerance Score: 55.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.32; 7.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP5MF Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP5MF
Leiden Open Variation Database (LOVD)
ATP5MF

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 ATP5MF Gene

Disorders for ATP5MF Gene

MalaCards: The human disease database

(2) MalaCards diseases for ATP5MF Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATP5MF

genes like me logo Genes that share disorders with ATP5MF: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATP5MF Gene

Publications for ATP5MF Gene

  1. Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning. (PMID: 9653160) Mao M … Chen Z (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4
  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
  3. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4
  4. Systems analysis of RhoGEF and RhoGAP regulatory proteins reveals spatially organized RAC1 signalling from integrin adhesions. (PMID: 32203420) Müller PM … Rocks O (Nature cell biology 2020) 3
  5. Extensive rewiring of the EGFR network in colorectal cancer cells expressing transforming levels of KRASG13D. (PMID: 31980649) Kennedy SA … Kolch W (Nature communications 2020) 3

Products for ATP5MF Gene

Sources for ATP5MF Gene