Free for academic non-profit institutions. Other users need a Commercial license

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 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
GH01F046621 1.2 Ensembl ENCODE 10.9 +51.3 51312 1.2 CTCF ZNF654 JUN KLF17 REST ZIC2 RAD21 SCRT2 IKZF1 SMC3 MKNK1 EFCAB14 TEX38 ATPAF1 EFCAB14-AS1 LOC105378697 MOB3C
GH01F046603 0.2 ENCODE 10.8 +69.5 69498 2.7 HDGF ATF1 ARID4B SIN3A DMAP1 ZNF48 YY1 ZNF121 SLC30A9 GLIS2 MKNK1 EFCAB14 TEX38 ATPAF1 EFCAB14-AS1 GC01P046604 KNCN
GH01F046594 1 Ensembl ENCODE 10.4 +78.8 78761 2.2 SMARCA5 SCRT1 PKNOX1 ATF1 MAX ZBTB40 JUND ZNF318 SCRT2 IKZF1 MKNK1 MOB3C EFCAB14 TEX38 ATPAF1 EFCAB14-AS1 GC01P046604 KNCN
GH01F046519 1.6 FANTOM5 Ensembl ENCODE 10 +152.3 152273 3.6 HDGF PKNOX1 ARNT CREB3L1 SIN3A CBX5 FOS KLF13 CEBPZ REST EFCAB14-AS1 DMBX1 IPP KNCN EFCAB14 TEX38 ATPAF1 NSUN4 MKNK1 CYP4Z1
GH01F046642 1 Ensembl ENCODE 7.4 +30.4 30417 1.1 PKNOX1 INSM2 FEZF1 ZNF2 RAD21 YY1 ZNF366 OVOL3 TSHZ1 ZEB2 EFCAB14 ATPAF1 LOC105378697 NENFP1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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

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.

Gene Ontology (GO) - Molecular Function for ATPAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11410595
genes like me logo Genes that share ontologies with ATPAF1: view
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

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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

Gene Ontology (GO) - Cellular Components for ATPAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA --
genes like me logo Genes that share ontologies with ATPAF1: view

Pathways & Interactions for ATPAF1 Gene

SuperPathways for ATPAF1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ATPAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006461 protein complex assembly IEA --
GO:0033615 mitochondrial proton-transporting ATP synthase complex assembly IBA --
genes like me logo Genes that share ontologies with ATPAF1: view

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

Transcripts for ATPAF1 Gene

Unigene Clusters for ATPAF1 Gene

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

Inhibitory RNA Products

Flow Cytometry Products

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, MaxQB, and MOPED for ATPAF1 Gene



Protein tissue co-expression partners for ATPAF1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ATPAF1 Gene:

ATPAF1

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

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
chimpanzee
(Pan troglodytes)
Mammalia ATPAF1 34
  • 99.86 (n)
dog
(Canis familiaris)
Mammalia ATPAF1 34 35
  • 92.31 (n)
cow
(Bos Taurus)
Mammalia ATPAF1 34 35
  • 92.1 (n)
mouse
(Mus musculus)
Mammalia Atpaf1 34 16 35
  • 88.7 (n)
rat
(Rattus norvegicus)
Mammalia Atpaf1 34
  • 88.41 (n)
oppossum
(Monodelphis domestica)
Mammalia ATPAF1 35
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATPAF1 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATPAF1 34 35
  • 69.86 (n)
lizard
(Anolis carolinensis)
Reptilia ATPAF1 35
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atpaf1 34
  • 65.75 (n)
Str.13192 34
zebrafish
(Danio rerio)
Actinopterygii atpaf1 34 35
  • 64.66 (n)
idibd1136 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004641 34
  • 50.07 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10340 34 35
  • 47.46 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ATP11 35 37
  • 20 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2656 35
  • 31 (a)
OneToOne
Species where no ortholog for ATPAF1 was found in the sources mined by GeneCards:
  • 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
rs10718568 -- 46,652,206(+) AAAGC(-/A)AAAAA intron-variant
rs1075982 -- 46,642,693(+) TACTT(A/G)TCTAC intron-variant
rs111270739 -- 46,658,737(+) ATCTG(C/T)CTGAA reference, missense, utr-variant-5-prime
rs111275846 -- 46,654,242(+) GCTCA(A/G)GGTTC intron-variant
rs111345741 -- 46,666,108(+) GAGGA(A/C)CCAGG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for ATPAF1 Gene

Variant ID Type Subtype PubMed ID
nsv1007280 CNV gain 25217958

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)

Relevant External Links for ATPAF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATPAF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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 64
  2. 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 46 64
  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 64
  4. Differential expression of ATPAF1 and ATPAF2 genes encoding F(1)- ATPase assembly proteins in mouse tissues. (PMID: 12965202) Pickova A. … Houstek J. (FEBS Lett. 2003) 3 4 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for ATPAF1 Gene

Sources for ATPAF1 Gene

Content
Loading form....