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Aliases for ATPAF1 Gene

Aliases for ATPAF1 Gene

  • ATP Synthase Mitochondrial F1 Complex Assembly Factor 1 2 3 5
  • ATP11 3 4
  • Homolog Of Yeast ATP11 3
  • ATP11 Homolog 4
  • ATP11p 3

External Ids for ATPAF1 Gene

Previous GeneCards Identifiers for ATPAF1 Gene

  • GC01M046794
  • GC01M046055
  • GC01M046487
  • GC01M046470
  • GC01M046812
  • GC01M046870
  • GC01M047098
  • GC01M045213

Summaries for ATPAF1 Gene

Entrez Gene Summary for ATPAF1 Gene

  • This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 beta subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]

GeneCards Summary for ATPAF1 Gene

ATPAF1 (ATP Synthase Mitochondrial F1 Complex Assembly Factor 1) is a Protein Coding gene. Diseases associated with ATPAF1 include Isolated Atp Synthase Deficiency.

UniProtKB/Swiss-Prot for ATPAF1 Gene

  • May play an essential role for the assembly of the mitochondrial F1-F0 complex.

Gene Wiki entry for ATPAF1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATPAF1 Gene

Genomics for ATPAF1 Gene

Regulatory Elements for ATPAF1 Gene

Enhancers for ATPAF1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ATPAF1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ATPAF1 Gene

Chromosome:
1
Start:
46,632,737 bp from pter
End:
46,673,867 bp from pter
Size:
41,131 bases
Orientation:
Minus strand

Genomic View for ATPAF1 Gene

Genes around ATPAF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATPAF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATPAF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATPAF1 Gene

Proteins for ATPAF1 Gene

  • Protein details for ATPAF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5TC12-ATPF1_HUMAN
    Recommended name:
    ATP synthase mitochondrial F1 complex assembly factor 1
    Protein Accession:
    Q5TC12
    Secondary Accessions:
    • B1AQW7
    • B7Z7D6
    • B7Z7I6
    • Q9H6E3

    Protein attributes for ATPAF1 Gene

    Size:
    328 amino acids
    Molecular mass:
    36437 Da
    Quaternary structure:
    • Interacts with ATP5B.

    Alternative splice isoforms for ATPAF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATPAF1 Gene

Proteomics data for ATPAF1 Gene at MOPED

Post-translational modifications for ATPAF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ATPAF1 Gene

Domains & Families for ATPAF1 Gene

Protein Domains for ATPAF1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q5TC12

UniProtKB/Swiss-Prot:

ATPF1_HUMAN :
  • Belongs to the ATP11 family.
Family:
  • Belongs to the ATP11 family.
genes like me logo Genes that share domains with ATPAF1: view

Function for ATPAF1 Gene

Molecular function for ATPAF1 Gene

UniProtKB/Swiss-Prot Function:
May play an essential role for the assembly of the mitochondrial F1-F0 complex.
genes like me logo Genes that share phenotypes with ATPAF1: view

Human Phenotype Ontology for ATPAF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for ATPAF1 Gene

miRTarBase miRNAs that target ATPAF1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for ATPAF1 Gene

Localization for ATPAF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATPAF1 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATPAF1 Gene COMPARTMENTS Subcellular localization image for ATPAF1 gene
Compartment Confidence
mitochondrion 4
nucleus 2
endoplasmic reticulum 1
extracellular 1

No data available for Gene Ontology (GO) - Cellular Components for ATPAF1 Gene

Pathways & Interactions for ATPAF1 Gene

SuperPathways for ATPAF1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ATPAF1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ATPAF1 Gene

Drugs & Compounds for ATPAF1 Gene

No Compound Related Data Available

Transcripts for ATPAF1 Gene

Unigene Clusters for ATPAF1 Gene

ATP synthase mitochondrial F1 complex assembly factor 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ATPAF1 Gene

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

Relevant External Links for ATPAF1 Gene

GeneLoc Exon Structure for
ATPAF1
ECgene alternative splicing isoforms for
ATPAF1

Expression for ATPAF1 Gene

mRNA expression in normal human tissues for ATPAF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ATPAF1 Gene

This gene is overexpressed in Urine (15.9), Heart (8.9), and Tonsil (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATPAF1 Gene



SOURCE GeneReport for Unigene cluster for ATPAF1 Gene Hs.100874

mRNA Expression by UniProt/SwissProt for ATPAF1 Gene

Q5TC12-ATPF1_HUMAN
Tissue specificity: Weakly expressed in muscle.
genes like me logo Genes that share expression patterns with ATPAF1: view

Protein tissue co-expression partners for ATPAF1 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for ATPAF1 Gene

Orthologs for ATPAF1 Gene

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

Orthologs for ATPAF1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ATPAF1 35
  • 92.1 (n)
  • 92.49 (a)
ATPAF1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATPAF1 35
  • 92.31 (n)
  • 92.63 (a)
ATPAF1 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atpaf1 35
  • 88.7 (n)
  • 89.08 (a)
Atpaf1 16
Atpaf1 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATPAF1 35
  • 99.86 (n)
  • 99.58 (a)
rat
(Rattus norvegicus)
Mammalia Atpaf1 35
  • 88.41 (n)
  • 87.64 (a)
oppossum
(Monodelphis domestica)
Mammalia ATPAF1 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATPAF1 36
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATPAF1 35
  • 69.86 (n)
  • 69.52 (a)
ATPAF1 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATPAF1 36
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atpaf1 35
  • 65.75 (n)
  • 62.07 (a)
Str.13192 35
zebrafish
(Danio rerio)
Actinopterygii atpaf1 35
  • 64.66 (n)
  • 60.99 (a)
idibd1136 35
atpaf1 36
  • 55 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004641 35
  • 50.07 (n)
  • 37.34 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10340 35
  • 47.46 (n)
  • 35.17 (a)
CG10340 36
  • 32 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ATP11 36
  • 20 (a)
OneToOne
ATP11 38
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2656 36
  • 31 (a)
OneToOne
Species with no ortholog for ATPAF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for ATPAF1 Gene

ENSEMBL:
Gene Tree for ATPAF1 (if available)
TreeFam:
Gene Tree for ATPAF1 (if available)

Paralogs for ATPAF1 Gene

(1) SIMAP similar genes for ATPAF1 Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with ATPAF1: view

No data available for Paralogs for ATPAF1 Gene

Variants for ATPAF1 Gene

Sequence variations from dbSNP and Humsavar for ATPAF1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_038906 -
rs594118 -- 46,665,201(-) CTCCT(C/T)ACCCT intron-variant
rs595813 -- 46,657,606(-) AATAG(C/T)ACTTA intron-variant
rs596794 -- 46,665,576(-) ACAGG(C/T)CCCTT intron-variant
rs597221 -- 46,665,647(-) CTGAA(A/T)GTAAG intron-variant, reference, missense, utr-variant-5-prime

Variation tolerance for ATPAF1 Gene

Residual Variation Intolerance Score: 50.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.05; 37.55% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Relevant External Links for ATPAF1 Gene

Disorders for ATPAF1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ATPAF1 Gene - From: Orphanet

Disorder Aliases PubMed IDs
isolated atp synthase deficiency
  • isolated mitochondrial respiratory chain complex v deficiency
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ATPAF1

Genetic Association Database (GAD)
ATPAF1
Human Genome Epidemiology (HuGE) Navigator
ATPAF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATPAF1
genes like me logo Genes that share disorders with ATPAF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATPAF1 Gene

Publications for ATPAF1 Gene

  1. Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human mitochondria. (PMID: 11410595) Wang Z.-G. … Ackerman S.H. (J. Biol. Chem. 2001) 2 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  4. Identification of ATPAF1 as a novel candidate gene for asthma in children. (PMID: 21696813) Schauberger E.M. … Wills-Karp M. (J. Allergy Clin. Immunol. 2011) 3
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3

Products for ATPAF1 Gene

Sources for ATPAF1 Gene

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