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Aliases for ATP5J Gene

Aliases for ATP5J Gene

  • ATP Synthase, H+ Transporting, Mitochondrial Fo Complex Subunit F6 2 3 5
  • ATP Synthase, H+ Transporting, Mitochondrial F0 Complex, Subunit F6 2 3
  • Coupling Factor 6 2 3
  • ATPase Subunit F6 3 4
  • ATP5A 3 4
  • ATPM 3 4
  • ATP Synthase, H+ Transporting, Mitochondrial Fo Complex, Subunit F6 2
  • ATP Synthase-Coupling Factor 6, Mitochondrial 3
  • Mitochondrial ATP Synthase, Coupling Factor 6 3
  • Mitochondrial ATP Synthase, Subunit F6 3
  • Mitochondrial ATPase Coupling Factor 6 3
  • Proliferation-Inducing Protein 36 3
  • ATP5 3
  • CF6 3
  • F6 3

External Ids for ATP5J Gene

Previous HGNC Symbols for ATP5J Gene

  • ATP5A
  • ATP5
  • ATPM

Previous GeneCards Identifiers for ATP5J Gene

  • GC21M023675
  • GC21M026018
  • GC21M027088
  • GC21M012499

Summaries for ATP5J Gene

Entrez Gene Summary for ATP5J 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 F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo complex has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the F6 subunit of the Fo complex. The F6 subunit is required for F1 and Fo interactions. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. This gene has 1 or more pseudogenes. [provided by RefSeq, Feb 2016]

GeneCards Summary for ATP5J Gene

ATP5J (ATP Synthase, H+ Transporting, Mitochondrial Fo Complex Subunit F6) is a Protein Coding gene. Diseases associated with ATP5J include Mitochondrial Complex Deficiency, Nuclear Type 4 and Combined Oxidative Phosphorylation Deficiency 22. Among its related pathways are FOXA1 transcription factor network and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include transporter activity and transmembrane transporter activity.

UniProtKB/Swiss-Prot for ATP5J 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 and the peripheric stalk, which acts as a stator to hold the catalytic alpha(3)beta(3) subcomplex and subunit a/ATP6 static relative to the rotary elements. Also involved in the restoration of oligomycin-sensitive ATPase activity to depleted F1-F0 complexes.

Gene Wiki entry for ATP5J Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP5J Gene

Genomics for ATP5J Gene

Regulatory Elements for ATP5J Gene

Enhancers for ATP5J Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around ATP5J on UCSC Golden Path with GeneCards custom track

Promoters for ATP5J Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Transcription factor binding sites by QIAGEN in the ATP5J gene promoter:

Genomic Location for ATP5J Gene

Chromosome:
21
Start:
25,716,503 bp from pter
End:
25,735,673 bp from pter
Size:
19,171 bases
Orientation:
Minus strand

Genomic View for ATP5J Gene

Genes around ATP5J on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP5J Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP5J Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP5J Gene

Proteins for ATP5J Gene

  • Protein details for ATP5J Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P18859-ATP5J_HUMAN
    Recommended name:
    ATP synthase-coupling factor 6, mitochondrial
    Protein Accession:
    P18859
    Secondary Accessions:
    • J3KQ83

    Protein attributes for ATP5J Gene

    Size:
    108 amino acids
    Molecular mass:
    12588 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 ATP5F1, ATP5G1, ATP5E, ATP5H, ATP5I, ATP5J, ATP5J2, MT-ATP6, MT-ATP8, ATP5A1, ATP5B, ATP5D, ATP5C1, ATP5O, ATP5L, USMG5 and MP68 (By similarity).

    Alternative splice isoforms for ATP5J Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP5J Gene

Post-translational modifications for ATP5J Gene

  • Ubiquitination at Lys 79 and Lys 99
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cloud-Clone Corp. Antibodies for ATP5J

No data available for DME Specific Peptides for ATP5J Gene

Domains & Families for ATP5J Gene

Graphical View of Domain Structure for InterPro Entry

P18859

UniProtKB/Swiss-Prot:

ATP5J_HUMAN :
  • Belongs to the eukaryotic ATPase subunit F6 family.
Family:
  • Belongs to the eukaryotic ATPase subunit F6 family.
genes like me logo Genes that share domains with ATP5J: view

Function for ATP5J Gene

Molecular function for ATP5J Gene

GENATLAS Biochemistry:
ATP synthase H+ transporting,inner mitochondrial membrane,(F0 segment),subunit F6 (coupling factor),complex V of oxidative phosphorylation (OXPHOS)
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 and the peripheric stalk, which acts as a stator to hold the catalytic alpha(3)beta(3) subcomplex and subunit a/ATP6 static relative to the rotary elements. Also involved in the restoration of oligomycin-sensitive ATPase activity to depleted F1-F0 complexes.

Gene Ontology (GO) - Molecular Function for ATP5J Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity NAS 1830479
GO:0015078 hydrogen ion transmembrane transporter activity IEA --
GO:0016887 contributes_to ATPase activity IDA 12110673
GO:0022857 transmembrane transporter activity IC 12110673
genes like me logo Genes that share ontologies with ATP5J: view
genes like me logo Genes that share phenotypes with ATP5J: view

Animal Model Products

CRISPR Products

miRNA for ATP5J Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP5J Gene

Localization for ATP5J Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP5J Gene

Mitochondrion. Mitochondrion inner membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP5J Gene COMPARTMENTS Subcellular localization image for ATP5J gene
Compartment Confidence
mitochondrion 5
chloroplast 2
cytosol 2
endoplasmic reticulum 1
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ATP5J Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000276 mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) IEA --
GO:0005739 mitochondrion IDA 20833797
GO:0005743 mitochondrial inner membrane TAS --
GO:0005753 mitochondrial proton-transporting ATP synthase complex IDA 12110673
genes like me logo Genes that share ontologies with ATP5J: view

Pathways & Interactions for ATP5J Gene

genes like me logo Genes that share pathways with ATP5J: view

Gene Ontology (GO) - Biological Process for ATP5J Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006754 ATP biosynthetic process TAS --
GO:0021762 substantia nigra development IEP 22926577
GO:0042776 mitochondrial ATP synthesis coupled proton transport TAS --
GO:0046034 ATP metabolic process IEA --
genes like me logo Genes that share ontologies with ATP5J: view

No data available for SIGNOR curated interactions for ATP5J Gene

Drugs & Compounds for ATP5J Gene

(5) Drugs for ATP5J Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0

(5) Additional Compounds for ATP5J Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
genes like me logo Genes that share compounds with ATP5J: view

Transcripts for ATP5J Gene

Unigene Clusters for ATP5J Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP5J Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c · 8d ^ 9a · 9b · 9c · 9d
SP1: - - - - - - - - - -
SP2: - - - - - - -
SP3: - - - - - -
SP4: - - -
SP5: - - - -
SP6: - -
SP7: - - - - - - - -
SP8: - -
SP9: -

Relevant External Links for ATP5J Gene

GeneLoc Exon Structure for
ATP5J
ECgene alternative splicing isoforms for
ATP5J

Expression for ATP5J Gene

mRNA expression in normal human tissues for ATP5J Gene

mRNA differential expression in normal tissues according to GTEx for ATP5J Gene

This gene is overexpressed in Heart - Left Ventricle (x5.2).

Protein differential expression in normal tissues from HIPED for ATP5J Gene

This gene is overexpressed in Brain (14.3) and Islet of Langerhans (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ATP5J Gene



Protein tissue co-expression partners for ATP5J Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ATP5J Gene:

ATP5J

SOURCE GeneReport for Unigene cluster for ATP5J Gene:

Hs.246310
genes like me logo Genes that share expression patterns with ATP5J: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for ATP5J Gene

Orthologs for ATP5J Gene

This gene was present in the common ancestor of animals.

Orthologs for ATP5J Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ATP5J 34
  • 85.19 (n)
  • 80.56 (a)
ATP5J 35
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP5J 34
  • 89.37 (n)
  • 84.48 (a)
ATP5J 35
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp5j 34
  • 88.27 (n)
  • 80.56 (a)
Atp5j 16
Atp5j 35
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATP5J 34
  • 98.56 (n)
  • 98.28 (a)
ATP5J 35
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp5j 34
  • 86.42 (n)
  • 76.85 (a)
oppossum
(Monodelphis domestica)
Mammalia ATP5J 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP5J 34
  • 66.34 (n)
  • 59.41 (a)
ATP5J 35
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP5J 35
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp5j 34
  • 72.94 (n)
  • 69.31 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC68738 34
zebrafish
(Danio rerio)
Actinopterygii atp5j 34
  • 60.61 (n)
  • 57.95 (a)
atp5j 35
  • 48 (a)
OneToMany
ATP5J (2 of 4) 35
  • 9 (a)
OneToMany
ATP5J (3 of 4) 35
  • 9 (a)
OneToMany
ATP5J (4 of 4) 35
  • 9 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta ATPsyn-Cf6 35
  • 42 (a)
OneToMany
CG12027 35
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5066 35
  • 35 (a)
OneToOne
Species where no ortholog for ATP5J was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for ATP5J Gene

ENSEMBL:
Gene Tree for ATP5J (if available)
TreeFam:
Gene Tree for ATP5J (if available)

Paralogs for ATP5J Gene

Pseudogenes.org Pseudogenes for ATP5J Gene

genes like me logo Genes that share paralogs with ATP5J: view

No data available for Paralogs for ATP5J Gene

Variants for ATP5J Gene

Sequence variations from dbSNP and Humsavar for ATP5J Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs7276776 -- 25,725,671(+) CTGAC(A/C/T)TCATG intron-variant
rs1803181 -- 25,724,650(-) AAAAC(A/C)CCAGG reference, missense
rs1971497 -- 25,725,707(-) AATCC(A/C/G)AGCAC intron-variant
rs3216073 -- 25,729,589(+) CATAC(-/T)TTGAA intron-variant
rs7280688 -- 25,732,939(+) atcgc(A/G)ccact intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATP5J Gene

Variant ID Type Subtype PubMed ID
esv3646715 CNV loss 21293372
nsv1064561 CNV loss 25217958

Variation tolerance for ATP5J Gene

Residual Variation Intolerance Score: 62.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.00; 49.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP5J Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP5J

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP5J Gene

Disorders for ATP5J Gene

MalaCards: The human disease database

(2) MalaCards diseases for ATP5J Gene - From: OMIM

Disorder Aliases PubMed IDs
mitochondrial complex deficiency, nuclear type 4
  • mitochondrial complex v deficiency nuclear type 4
combined oxidative phosphorylation deficiency 22
  • coxpd22
- elite association - COSMIC cancer census association via MalaCards
Search ATP5J in MalaCards View complete list of genes associated with diseases

Relevant External Links for ATP5J

Genetic Association Database (GAD)
ATP5J
Human Genome Epidemiology (HuGE) Navigator
ATP5J
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP5J
genes like me logo Genes that share disorders with ATP5J: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATP5J Gene

Publications for ATP5J Gene

  1. Human mitochondrial ATP synthase: cloning cDNA for the nuclear- encoded precursor of coupling factor 6. (PMID: 1825642) Javed A.A. … Sanadi D.R. (Gene 1991) 2 3 4 65
  2. Molecular cloning of cDNA for the import precursor of human coupling factor 6 of H(+)-ATP synthase in mitochondria. (PMID: 1830479) Higuti T. … Ichihara A. (Biochem. Biophys. Res. Commun. 1991) 2 3 4 65
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 65
  4. Coupling factor 6 downregulates platelet endothelial cell adhesion molecule-1 via c-Src activation and acts as a proatherogenic molecule. (PMID: 18243211) Kumagai A. … Okumura K. (Atherosclerosis 2008) 3 22 65
  5. Polymorphisms in mitochondrial genes and prostate cancer risk. (PMID: 19064571) Wang L. … Thibodeau S.N. (Cancer Epidemiol. Biomarkers Prev. 2008) 3 46 65

Products for ATP5J Gene

Sources for ATP5J Gene

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